ASHG 2012 Program Guide - American Society of Human Genetics

ashg.org/2012meeting 

Discover • Network • Collaborate

whole exome sequencing 

– One Test – 

More Answers 

Developed jointly by the Human Genome Sequencing Center 

(HGSC), the Department of Molecular and Human Genetics 

and the Medical Genetics Laboratories of the Baylor College of 

Medicine, the Whole Genome Sequencing Laboratory (WGL) 

applies the power of next generation sequencing technology to 

clinical genetics in a CLIA high complexity testing laboratory with 

clinical interpretation of the sequence information. Whole Exome 

Sequencing (WES) is poised to change the current paradigm of 

genetic testing for Mendelian disorders, pharmacogenetic traits, 

and potentially complex traits. Rather than limiting testing to a 

single gene or panel of genes and incurring diagnostic delays and 

escalating costs, the Whole Exome Sequencing test will sequence 

nucleotide by nucleotide, the human exome to the depth of coverage 

required to achieve a consensus sequence with high accuracy. Point 

mutations, small insertions and deletions of the exome are routinely 

detected by this methodology. The team curating the Whole Exome 

Sequencing test focuses the report on on known or predicted 

deleterious mutations in genes associated with patient’s clinical 

problems; however, significant potentially medically actionable 

findings in other genes of interest as well as the option for reporting 

autosomal recessive carrier status are included in the focused whole 

exome report. 

One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 

1-800-411-gene (4363) • www.bcmgeneticlabs.org • www.bcm.edu

Welcome to the ASHG 

62 nd Annual Meeting 

Name: _____________________________________ 

Email: _____________________________________

TABLE OF CONTENTS 

2012 ASHG Board of Directors ................................................................................. 4 

Welcome from the President .................................................................................... 5 

2012 ASHG Program Committee Members ............................................................ 6 

Welcome from the Program Chair ........................................................................... 7 

2012 ASHG Abstract Reviewers ............................................................................... 9 

ASHG Administrative Offices/Staff ...................................................................... 10 

Annual Meeting Support ......................................................................................... 11 

Advertisers .............................................................................................................. 12 

Schedule of Scientific Sessions and Ancillary Events ........................................ 15 

Trainee Track: Meeting within the Meeting Schedule ............................................ 29 

Education Track ...................................................................................................... 31 

Clinical Track .......................................................................................................... 33 

Floor Plans and Maps 

Moscone Center (Convention Center) .................................................................... 37 

San Francisco Marriott Marquis Hotel (Headquarter Hotel) ................................. 39 

San Francisco Hotel Locator Map ......................................................................... 41 

BART Metro System ............................................................................................... 43 

General Information 

About the Meeting ................................................................................................ 45 

Abstracts/Abstract Search ................................................................................. 45 

Invited Sessions .................................................................................................. 45 

Plenary Session Presentations (abstract-driven) ............................................... 45 

Platform Sessions (abstract-driven) ................................................................... 45 

Poster Sessions (abstract-driven) ..................................................................... 46 

Mobile App/Mobile Web Site .............................................................................. 46 

Social Media ....................................................................................................... 46 

Session Tracks .................................................................................................... 46 

Registration, Badge and Program Pick up 

Registration Hours/Fees ..................................................................................... 47 

Replacement/Lost/Forgotten Badge .................................................................. 48 

Meeting Information, Services and Offices 

ASHG Office and Meeting Logistics ................................................................... 48 

ASHG Central/Membership Services ................................................................ 48 

Assistance for Attendees .................................................................................... 49 

Attire/Dress Code ............................................................................................... 49 

Business Center .................................................................................................. 49 

Career/Employment Opportunities ..................................................................... 49 

Cell Phone/Camera/Recording Policy ................................................................ 49 

CME/CEUs .......................................................................................................... 49 

Exhibits/Exhibit Registration and Management ................................................. 50 

Family/Nursing Mothers Room ........................................................................... 50 

First Aid ............................................................................................................... 50 

Food Service ....................................................................................................... 50 

Housing/Hotels .................................................................................................. 51 

Information .......................................................................................................... 51 

Internet Access/Cyber Cafè ............................................................................... 51 

Luggage Storage and Coat Check ..................................................................... 51

TABLE OF CONTENTS 

Message Center/Literature Tables...................................................................... 51 

Parking ................................................................................................................ 52 

Prayer Room ....................................................................................................... 52 

Press Office ........................................................................................................ 52 

Registration Management/Registration Help Desk ............................................ 52 

Restaurant/City Information Tours and Activities ............................................... 52 

Speaker-Presentation/Upload Room ................................................................. 52 

Speaker Conflict of Interest ................................................................................ 53 

Telephone Numbers for ASHG On-Site Offices ................................................. 53 

Travel and Visitor Information ............................................................................. 53 

Transportation/Getting Around .......................................................................... 54 

Daily Meeting Highlights and Workshops 

Tuesday ................................................................................................................. 55 

Wednesday ............................................................................................................. 56 

Thursday ................................................................................................................. 58 

Friday ...................................................................................................................... 59 

Saturday ................................................................................................................. 61 

Charles Epstein Trainee Awards for Excellence in 

Human Genetics Research ..................................................................................... 63 

2012 FASEB MARC TRAVEL AWARDEES ............................................................. 66 

INVITED, PLATFORM AND AWARD SESSIONS 

Session #1 through Session #81 ....................................................................... 68 

Poster Sessions ..................................................................................................... 125 

Exhibitors ................................................................................................................ 267 

Floor Plan of Exhibit and Poster Area .................................................................. 271 

Alpha Listing of Exhibitors .................................................................................... 273 

Product and Service Index ................................................................................... 299 

Continuing Education (CEU/CME Credits) ......................................................... 325 

Speaker and Author Disclosures ......................................................................... 329 

Speaker and Author Index .................................................................................... 333 

Advertisements ...................................................................................................... 421 

3

AMERICAN SOCIETY OF HUMAN GENETICS 

DISCOVER • EDUCATE • ADVOCATE 

www.ashg.org 

The American Society of Human Genetics (ASHG), founded in 1948, is the primary 

professional membership organization for human genetics specialists worldwide. ASHG 

serves research scientists, health professionals, and the public by providing forums to: 

• Share research results at Annual Meetings and in The American Journal of 

Human Genetics; 

• Advance genetic research by advocating for research support; 

• Enhance genetics education by preparing future professionals and informing 

the public; and 

• Promote genetic services and support responsible social and scientific policies. 

ASHG’s nearly 8,000 members include researchers, academicians, clinicians, 

laboratory practice professionals, genetic counselors, nurses and others who have 

a special interest in the field of human genetics. Members of ASHG entered the 

21st century with a commitment to become fluent in the language of the genome, 

understand human variation, and promote the public health. As we transfer new 

knowledge to the next generation of genetics professionals and the public, we will 

translate new ideas into improved clinical practice. Visit the ASHG Web site for 

additional information: www.ashg.org. 

2012 Board of Directors 

Mary-Claire King, President 

Jeffrey C. Murray, President-Elect Directors: 

Brendan Lee, Secretary David M. Altshuler 

Geoffrey M. Duyk, Treasurer Stylianos E. Antonarakis 

Leslie G. Biesecker 

Lynn B. Jorde, Past President 2011 Vivian G. Cheung 

Roderick R. McInnes, Past President 2010 Nancy J. Cox 

Kay E. Davies 

David Nelson, Editor Evan E. Eichler 

Richard A. Gibbs 

Neil J. Risch

WELCOME FROM THE PRESIDENT 

Dear Fellow Members of ASHG, 

Welcome to our 2012 Annual Meeting. The theme for our meeting this year is 

“The Scientist as a Citizen of the World.” This theme was selected for two reasons. 

First, this year has been an extraordinarily productive one for human genetics research 

based in populations from all parts of the world. Human genetics is inherently a science 

without borders. Now, economic constraints notwithstanding, we have reached a 

moment in which the scientific work of our field is carried out in very large part by 

geneticists from the places of origin of populations being studied. Some of this work 

is internationally collaborative, and the projects are true, not token, joint efforts. 

Our field owes this rapid democratization in part to the virtually overnight dissemination 

of next generation sequencing technology, and in part to the cleverness of human 

geneticists worldwide who exploit this technology by inventively integrating local, 

regional, and international capacities. A little outsourcing goes a long way in the right 

hands. Results of international collaborations are integrated into every session of 

this ASHG meeting. I point out this feature of our meeting explicitly, because we take 

international collaboration so much for granted that we might not notice it otherwise. 

We are fortunate in this. It is not the way of the world as a whole. 

Second, what happens this week in the U.S. will have enormous consequences for us all. 

As human geneticists, we are in the privileged position of having far more awareness of 

the world than most of our fellow citizens (wherever we are originally from), and therefore 

the responsibility to try to help the next years be ones of progress for our communities. 

Collectively, we are many (more than 8000), with considerable intellectual influence, 

if not explicit political power, in our communities. We enjoy more autonomy than most in 

exercising that influence, in part because we have each other. ASHG is both our home 

for productive science and for forming friendships that transcend borders. Collaboration 

bridges conflict for far more people than those engaged in the science itself. 

So welcome to the 62nd ASHG Annual Meeting. Enjoy a lovely week in this beautiful city, 

greet old friends, make new friends, arrange a post-doc or a sabbatical year in a place not 

previously your own, and think of fine projects together. It is a great pleasure to see you here. 

With all best wishes, 

Mary-Claire King 

President, ASHG 

5

6 PROGRAM COMMITTEE 

THE AMERICAN SOCIETY OF HUMAN GENETICS 62 ND 

Annual Meeting 

November 6–10, 2012 • San Francisco, California 

ASHG gratefully acknowledges the expertise, hard work and 

dedication of the 2012 Program Committee 

************************************ 

Program Committee 

Joel N. Hirschhorn, Chair 

Sally A. Camper Andrew S. McCallion 

Andrew G. Clark Karen L. Mohlke 

Tina M. Cowan Elaine A. Ostrander 

Clair A. Francomano Barbara R. Pober 

Chris Gunter Nazneen Rahman 

Jonathan L. Haines Michael R. Speicher 

Gail P. Jarvik Catherine A. Wicklund 

Sekar Kathiresan Alexander F. Wilson 

Nicolas Katsanis 

************************************

WELCOME FROM THE PROGRAM CHAIR 

On behalf of the ASHG Program Committee and the Board of Directors, welcome to 

the Society’s 62 nd Annual Meeting in San Francisco! The 2012 Program Committee 

has developed an exceptional program. This year, we received a record 3845 abstracts, 

from which 411 were chosen for plenary/platform oral presentations and over 3400 

of the remaining abstracts are being presented as scientific posters. In addition, there 

are 24 invited scientific sessions, chosen from the 95 proposals submitted this year. 

The program committee has worked to assemble an exciting and outstanding scientific 

program that balances basic, translational, and clinical research with sessions that 

address timely issues. The schedule once again features separate tracks (trainees, 

clinical and educational) to help you select the sessions most relevant to your interests. 

The meeting begins on Tuesday at 4:00 pm with the Presidential Address “The 

Scientist as a Citizen of the World” by Mary-Claire King. The address will be streamed 

live on the ASHG Web site and will be followed by the plenary abstract presentations 

with topics including comparative epigenomics, early exome sequencing in complex 

traits, large-scale identification of enhancers and cis-acting regulators of translation, 

and integrated genetic and functional studies of disease-causing variants (see page 

68 for details). Afterwards, we hope you join us to reconnect with friends and colleagues 

and make new connections at the Opening Mixer and Trainee Mixer-Within-A-Mixer 

starting at 7:00 pm in the San Francisco Marriott Marquis Hotel. 

Each day, you will have the opportunity to select from concurrent invited and platform 

presentations. Poster presentations will be held on each of three afternoons following 

the lunch period, and all posters will remain on display throughout the three days. 

The final session of the day on Wednesday is the invited Presidential Symposium 

entitled “Gene Discovery and Patent Law: Present Experience in the US and in Europe.” 

Please plan to join us from 4:30 pm until 6:30 pm to discuss the present state of gene 

patenting. Come prepared with your written questions for the well-known panelists: 

Hank Greely, Gert Matthijs, Mark Lemley and Lori Andrews. (See page 81 for further 

details). 

In response to survey requests from prior meeting attendees, the Program Committee 

lengthened the lunch break to 90 minutes and added evening workshops in a variety 

of topics. Workshops will cover interactive browser sessions (UCSC, Galaxy and 

Ensembl Browsers), NCBI databases (Sequence Read Archive, GenBank, GEO, 

dbSNP, dbVar and dbGaP) and clinical interpretation of databases (such as DECIPHER, 

7

8 WELCOME FROM THE PROGRAM CHAIR 

ISCA, DbVar). In addition, there will be a session on how scientists can use social 

media to benefit their career as well as a workshop on Diagnostic Dilemmas, with 

presentation of rare and unknown cases. 

The Society’s Board of Directors and the Program Committee continue to share a 

strong commitment for trainee academic development. Therefore, this year, we have 

increased the value of trainee awards. The awards were also renamed to honor the 

late Charles J. Epstein. We continue to offer several events designed to assist our 

trainee members in their transition toward professional independence. These events 

include: (1) the Undergraduate Faculty Genetics Education Workshop, (2) the Trainee- 

Mentor Luncheon, (3) the Trainee Development Program and Networking Reception, 

and (4) a Mock NIH Study Section Workshop. Please refer to page 29 for the “trainee 

meeting within the meeting” schedule. 

The meeting will conclude on Saturday with a special closing symposium entitled, 

“ Human Genetics 2012 and Beyond: Present Progress and Future Frontiers,” from 

12:00 pm to 1:00 pm. This symposium will feature a panel of five outstanding geneticists 

with diverse perspectives: Han Brunner, Hal Dietz, Dian Donnai, Lynn Jorde, and Jay 

Shendure. The panel will address exciting advances presented at this year’s meeting 

and will discuss the opportunities and challenges for the coming years. Attendees will 

have opportunities to ask questions of the panelists during the session in person and 

through social media. Chris Gunter will also pose relevant questions to attendees via 

social media during the meeting, and summarize the responses at the opening of 

the session. 

Feedback 

To determine whether the programmatic changes implemented were successful, and 

to gather suggestions for future meetings, we will be sending an online survey after 

the meeting to all attendees. Please take the time to complete the survey and provide 

us with valuable feedback that we can consider for future meetings. 

Acknowledgments 

Developing a program for the ASHG Annual Meeting is a complex process, requiring the 

coordinated efforts of many individuals over thousands of person-hours. A description 

of how the Program Committee puts together the scientific content of the meeting can 

be found on page 327. This past year, I have had the privilege of working with a truly 

exceptional Program Committee — each member generously volunteering his/her 

expertise and time to develop an outstanding scientific program. I am also grateful to 

the Education, Social Issues, and Awards committees for their valuable contributions 

to the meeting. Finally, my deepest appreciation goes to our ASHG administrative staff 

(with a special note of thanks to Peggi McGovern, Pauline Minhinnett, and Dr. Joann 

Boughman) for their enthusiastic dedication and tireless work in making our Annual 

Meeting the success that it is. 

I hope that you enjoy the meeting, and again, a warm welcome to San Francisco! 

Joel N. Hirschhorn, MD, PhD 

2012 Program Committee Chair 

Boston’s Children’s Hospital/Harvard Medical School 

Broad Institute

ABSTRACT REVIEWERS 

ASHG gratefully acknowledges the expertise, hard work and 

dedication of the 2012 Abstract Reviewers 

Kate G. Ackerman Katherine H. Kim 

Laura Almasy Jan Korbel 

Hans C. Andersson Beth A. Kozel 

Stylianos E. Antonarakis Michael Lovett 

Dimitrios Avramopoulos Richard Maas 

Blake C. Ballif Christa Lese Martin 

David R. Beier Rasika A. Mathias 

Cecelia A. Bellcross Andy McCallion 

Natalie Blagowidow Nazli McDonnell 

Joann A. Boughman Karen Mohlke 

Sally A. Camper Cynthia Morton 

Rita M. Cantor Maximilian Muenke 

Kimberly A. Chapman Christopher Newton-Cheh 

Andrew Clark Rasmus Nielsen 

Gregory M. Cooper Elaine A. Ostrander 

Tina M. Cowan Michael J. Parsons 

Gregory E. Crawford Robert Pilarski 

Dana C. Crawford Robert M. Plenge 

Paul de Bakker Barbara R. Pober 

Hal Dietz Nazneen Rahman 

Michael J. Dougherty Richard Redon 

Flavia M. Facio Catherine A. Reiser 

Clair A. Francomano Lawrence T. Reiter 

Thomas Glover Nathaniel H. Robin 

Chris Gunter Noah Rosenberg 

Jonathan L. Haines Richa Saxena 

Robert Hegele William K. Scott 

Joel N. Hirschhorn Michael R. Speicher 

Fuki M. Hisama Beth A. Sullivan 

Shama Jari Tricia A. Thornton-Wells 

Gail P. Jarvik Luk H. Vandenberghe 

Sekar Kathiresan Catherine A. Wicklund 

Nicholas Katsanis Alexander F. Wilson 

Brendan J. Keating Meredith Yeager 

9

10 

The American Society of Human Genetics 

9650 Rockville Pike, Bethesda, Maryland 20814-3998 

Telephone: 301-634-7300 • 1-866-HUM-GENE • Fax: 301-634-7079 

E-mail: society@ashg.org or ashgmeetings@ashg.org 

ASHG Web site: www.ashg.org 

Annual Meeting Web site: www.ashg.org/2012meeting 

Meetings, Registration and Exhibits 

Pauline Minhinnett, Director of Meetings; paulinem@ashg.org 

Peggi McGovern, Senior Meetings Associate/Registrar; pmcgovern@ashg.org 

Carrie Morin, Exhibits, Sponsorship and Advertising Manager, cmorin@ashg.org 

ASHG Administrative Office 

Jennifer Hobin, Interim Executive Officer; jhobin@faseb.org 

Karen Goodman, Executive Assistant; kgoodman@ashg.org 

Education Department 

Michael J. Dougherty, Director of Education; mdougherty@ashg.org 

Katherine Lontok, Education Programs Manager; klontok@ashg.org 

Information Services 

Yimang Chen, Director, Information Technology; ychen@ashg.org 

Ray Wolfe, System Support Engineer/Web Site Coordinator; rwolfe@ashg.org 

Hubert Zhang, Systems Developer; hzhang@ashg.org 

Communications/Media 

Cathy Yarbrough, ASHG 2012 Communications Consultant; press@ashg.org 

Accounting 

Chuck Windle, Director of Administration and Finance; cwindle@ashg.org 

Membership 

Mary Shih, Membership Manager; mshih@ashg.org 

If you are unsure whom to contact, please e-mail ashgmeetings@ashg.org and your 

inquiry will be forwarded to the appropriate person. See page 53 for a list of on-site 

telephone numbers and offices at the Convention Center during the 2012 ASHG 

Annual Meeting.

ANNUAL MEETING SUPPORT 

The American Society of Human Genetics gratefully acknowledges the 

following Annual Meeting supporters 

BIOBASE 

Galaxy Workshop: Working with High-Throughput Data and Data Visualization 

G3: Genes, Genomes, Genetics 

Educational Support 

Genzyme Corp. 

Cyber Café and WiFi 

Life Technologies 

Diagnostic Challenges: Review and Discussion of Unique Cases (Rare and 

Unknown) 

Roche 

Badge Holders 

11

12 

ADVERTISERS 

Affymetrix, Inc. (Booth 918) Back Cover 

ASHG Central (ASHG/AJHG) 

(Booth 913) Alphabetical, end of book, Page 421 

ASHG 2012 Mobile App Alphabetical, end of book, Page 422 

ASHG 2013 Call for Invited Sessions: 

Boston (Booth 913) Alphabetical, end of book, Page 423 

American College of Medical Genetics 

and Genomics (Booth 318) Alphabetical, end of book, Page 424 

Association of Professors of Human 

and Medical Genetics (APHMG) Alphabetical, end of book, Page 425 

Baylor College of Medicine, Medical 

Genetics Laboratories (Booth 711) Inside Front Cover 

European Society of Human Genetics 

Conference 2013 (Booth 219) Alphabetical, end of book, Page 426 

JAMA Network (Booth 1201) Facing Inside Back Cover 

Life Technologies (Booth 601) Inside Back Cover 

Natera (Booth 504) Alphabetical, end of book, Page 427 

RainDance Technologies (Booth 910) Exhibit Hall Floor Plan Banner 

Sequenom, Inc. (Booth 519) Alphabetical, end of book, Page 428/429 

Shire (Booth 600) Exhibits Tab Divider

NOTES

NOTES

SCHEDULE OF SCIENTIFIC SESSIONS AND 

ANCILLARY EVENTS 

Ancillary and satellite meetings, exhibitor or other special workshops, reunion/university 

receptions or meetings of editorial boards, committees, etc., are not official ASHG functions. 

Listings in bold face indicate the event is an ASHG-sponsored scientific session/event 

open only to scientific registrants. 

Indicates Trainee-focused events 

Indicates Education-focused events 

Indicates Clinical-focused events 

(*)Asterisk denotes meetings/events that the organizer specified are by invitation or preregistration 

only. Otherwise, attendance may be assumed to be open to all registrants on a 

first-come, first-served basis. 

MONDAY, November 5 

*3:00 PM - 

8:00 PM 

*4:00 PM - 

5:45 PM 

*6:00 PM - 

9:00 PM 

*6:00 PM - 

9:00 PM 

*6:00 PM - 

9:00 PM 

ASHG Board of Directors Meeting #1 Marriott Marquis Hotel 

Foothill E, 2nd Level 

ABMG Finance Committee Meeting Marriott Marquis Hotel 

Pacific E, 4th Level 

ABMG Accreditation Committee Meeting Marriott Marquis Hotel 

Pacific D, 4th Level 

ABMG Credentials Committee Meeting Marriott Marquis Hotel 

Pacific F, 4th Level 

ABMG MOC Committee Meeting Marriott Marquis Hotel 

Pacific E, 4th Level 

TUESDAY, November 6 

*7:30 AM - 

4:00 PM 

8:00 AM - 

5:00 PM 

8:00 AM - 

4:00 PM 

*8:00 AM - 

3:00 PM 

*8:00 AM - 

3:30 PM 

*8:00 AM - 

4:00 PM 

FSH Society Facioscapulohumeral Muscular 

Dystrophy [FSHD] 2012 International 

Research Consortium & Research Planning 

Meeting 

Marriott Marquis Hotel 

Club Room, 2nd Level 

Exhibitor Registration Open Moscone Center 

South Lobby 

Annual Meeting of the Society of Craniofacial 

Genetics and Developmental Biology: Stem 

Cells in Craniofacial Development and 

Disease 

ASHG Undergraduate Faculty 

Genetics Education Workshop 

(Advance registration required.) 

15 

UCSF, Parnassus Campus 

Health Sciences West, Room 

301 

Moscone Center 

Room 300, Esplanade Level 

South 

ABMG Board of Directors Meeting Marriott Marquis Hotel 

Sierra I, 5th Level 

ACMG Board Meeting Marriott Marquis Hotel 

Sierra A, 5th Level 

SCHEDULE

16 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 

*8:30 AM - 

2:30 PM 

8:30 AM - 

3:45 PM 

*9:00 AM - 

1:00 PM 

10:00 AM - 

7:00 PM 

*10:00 AM - 

3:00 PM 

11:00 AM - 

4:30 PM 

*11:00 AM - 

1:00 PM 

*11:00 AM - 

3:00 PM 

12:00 PM - 

4:00 PM 

*12:00 PM - 

4:00 PM 

1:00 PM - 

4:00 PM 

1:30 PM - 

3:30 PM 

2:00 PM - 

4:00 PM 

4:00 PM - 

4:30 PM 

4:30 PM - 

6:30 PM 

*6:45 PM - 

9:30 PM 

7:00 PM - 

8:30 PM 

ASHG High School Workshop for Local 

San Francisco Students and Teachers 

(Advance registration required.) 

HVP: Getting Ready for the Human Phenome 

Project (Separate registration required.) 

Philippine Genome Center Health Program 

Scientific Advisory Committee Meeting 


Room 303/305, Esplanade 

Level South 


Yerba Buena 7, Lower B2 

Level 


Room 220, East Mezzanine 

Level South 

Scientific Registration Open Moscone Center 

North Lobby 

ASHG Board of Directors Meeting #2 Moscone Center 


Level South 

Speaker Presentation/Upload Room Open 

Speakers are required to upload their 

presentations here. We recommend uploading 

at least 4 hours before your presentation time. 


Room 110, Lower Level 

South 

ASHG Social Issues Committee Meeting Moscone Center 


Level South 

ASHG Program Committee Meeting #1 Moscone Center 

Room 224/226, East 

Mezzanine Level South 

Ataxia-Telangiectasia & Genome Instability 

Workshop 

For further information contact: 

meyn@sickkids.ca 

European Society of Human Genetics (ESHG) 

Executive Board Meeting 

Getting the Most from the Human Genome: 

Understanding Updates and Improvements in 

the Reference Assembly 

1st Meeting of the International Consortium 

for Autosomal Recessive Intellectual Disability 

(CARID) 

Clinical Utility of Whole Exome Sequencing: 

Baylor’s Initial Experience 

1. ASHG Presidential Address: The 

Scientist as a Citizen of the World 


Room 274/276, West 



Room 270, West Mezzanine 

Level South 






Level South 



South 


Hall D, Lower Level North 

2. Plenary Abstract Presentations Moscone Center 


Genetics of Type 2 Diabetes Meeting Marriott Marquis Hotel 

Pacific I, 4th Level 

ASHG Opening Mixer and Trainee 

Mixer-within-a-Mixer (Open to all 

scientific registrants.) 


Yerba Buena 7/8/9, Lower 

B2 Level

*7:00 PM - 

8:00 PM 

*7:00 PM - 

9:00 PM 

SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 17 

ACMG Development Committee Meeting Marriott Marquis Hotel 


American Journal of Medical Genetics 

Editorial Board Meeting 

WEDNESDAY, November 7 

7:00 AM - 

5:00 PM 

7:00 AM - 

5:00 PM 

8:00 AM - 

10:00 AM 

8:00 AM - 

4:30 PM 

10:00 AM - 

4:30 PM 

10:00 AM - 

4:30 PM 


Golden Gate C2, B2 Level 


North Lobby 







South 

Concurrent Invited Session I (3-10): Moscone Center 

3. Implementing Next-Generation 

Sequencing as a Clinical Test 

4. Assessing the Pathogenicity of 

Genetic Variants: Translating in Vitro 

and in Silico Advances to the Clinic 

5. Gene Regulatory Change: The Engine 

of Human Evolution? 

6. Insights into Human Demography and 

Selection from Full Genome 

Sequencing 

7. Age-Related Macular Degeneration— 

GWAS and Beyond: Guiding Light for 

the Complex Neurodegenerative 

Diseases 

8. “Yes Virginia, Family Studies Really Are 

Useful for Complex Traits in the Next- 

Generation Sequencing Era” (session 

in honor of Dr. Robert Elston’s 

contributions to human genetics in the 

year of his 80th birthday) 

9. Surveying Customer Responses to 

Personal Genetic Services 

10. Metabolism, Metals, and 

Neurodegeneration: Toward 

Enhanced Understanding of 

Disease Mechanisms and 

Rational Therapeutics 


Gateway Ballroom 103, 

Lower Level South 


North 


North 




North 


North 


North 


South Lobby 

Career Resources Open 


Exhibit Hall, Lower Level 

South 

Exhibits Open Moscone Center 


South 

SCHEDULE


10:00 AM - 

4:30 PM 

10:30 AM - 

12:45 PM 

12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

1:45 PM 

12:45 PM - 

2:00 PM 

Posters Open Moscone Center 


South 

Concurrent Platform (abstract-driven) Moscone Center 

Session A (11-19): 

11. Genetics of Autism Spectrum 


Disorders 

12. New Methods for Big Data Gateway Ballroom 103, 


13. Cancer Genetics I: Rare Variants Room 135, Lower Level 

North 

14. Quantitation and Measurement of 

Regulatory Oversight by the Cell 

15. New Loci for Obesity, Diabetes, and 

Related Traits 


North 



16. Neuromuscular Disease and Deafness Room 124, Lower Level 

North 

17. Chromosomes and Disease Room 132, Lower Level 

North 

18. Prenatal and Perinatal Genetics Room 130, Lower Level 

North 

19. Vascular and Congenital Heart Disease Room 123, Lower Level 

North 

Lunch Break, Open Viewing for Posters 

and Exhibits 

ASHG Trainee-Mentor 

Luncheon (Advance ticket 

purchase required.) 

ASHG Workshop: 

Clinical Interpretation 

of Cytogenomic Arrays: 

Tools & Resources (Advance 

ticket purchase required.) 

ASHG/NCBI Workshop: 

Discovering Biological 

Data at NCBI (Advance 


Human Variome Project International 

Scientific Advisory Committee Meeting 

SOLD 

OUT 

SOLD 

OUT 

SOLD 

OUT 

Complete Genomics Workshop: Whole 

Genome Sequencing as a Clinical Tool 

Roche Workshop: Genetic Diversity Analysis 

Using 454 and Nimblegen Sequencing 

Solutions 

Illumina Workshop: Integrated Tools for Next- 

Generation Sequencing & Genotyping 

Applications 



South 



Level South 



Level South 



South 



Level South 

Moscone Center Room 309, 

Esplanade Level South 






South

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

1:15 PM - 

2:15 PM 

2:15 PM - 

4:15 PM 

4:30 PM - 

6:30 PM 

6:30 PM - 

7:45 PM 

6:30 PM - 

8:00 PM 

6:30 PM - 

8:00 PM 

*6:30 PM - 

9:30 PM 

*6:30 PM - 

9:30 PM 

6:45 PM - 

8:45 PM 


Affymetrix Workshop: Enabling the Genome 

Generation #1: Population-Optimized 

Strategies and Genotyping Solutions for 

Expanding Our Understanding of the Genetic 

Variations in Complex Diseases 

Agilent Technologies Lunch Workshop: Better 

Sequencing, Better World: The Latest in 

HaloPlex & SureSelect NGS Target 

Enrichment for Human Disease Research 

Human Molecular Genetics Editorial Board 

Meeting 

DNAnexus: Taking the Guesswork and 

Complexity Out of Genomic Data Analysis 

with a Novel Collaborative and Scalable Data 

Technology Platform 

QIAGEN, Inc. Workshop: New Sample Prep 

Solutions & Multiplex Gene Panel Target 

Enrichment for Next-Generation Sequencing 

Ion Torrent Luncheon Workshop: 

Semiconductor Sequencing For All: Ion 

Proton and Ion PGM Systems, Ion 

AmpliSeq Technology & More 

ACMG Genetics Review Course Faculty 

Meeting 

Knome Workshop: Interpreting Whole 

Genomes to Understand Disease and Drug 

Response: Methods, Tools, and Case Studies 

Poster Session I (Wednesday Poster 

Authors Present) 

20. Invited Presidential Symposium: Gene 

Discovery and Patent Law: Present 

Experience in the U.S. and in Europe 

Ambry Genetics Workshop: The Power of the 

Diagnostic Exome 

Cleveland Clinic Genomic Medicine Institute 

Reception 

Progeny Software Workshop: How to 

integrate Family History into your EMR 



South 



Level South 






South 



South 



South 



Level South 






South 





South 


Yerba Buena 1/2, Lower B2 

Level 




ACMG MOC Meeting Marriott Marquis Hotel 

Sierra F, 5th Level 

ACMG Professional Practice and Guidelines 

Committee Meeting 

Canadian College of Medical Geneticists: 

CIHR Institute of Genetics Mixer 


Sierra E, 5th Level 



Level 

SCHEDULE


*6:45 PM - 

9:45 PM 

*6:45 PM - 

10:30 PM 

7:00 PM - 

10:30 PM 

*7:00 PM - 

8:30 PM 

*7:00 PM - 

8:30 PM 

7:00 PM - 

8:30 PM 

*7:00 PM - 

8:30 PM 

7:00 PM - 

9:00 PM 

7:00 PM - 

9:30 PM 

*7:00 PM - 

10:00 PM 

*7:00 PM - 

10:00 PM 

*7:00 PM - 

10:00 PM 

*7:00 PM - 

10:00 PM 

International Federation of Human Genetics 

Societies (IFHGS) Executive Board Meeting 

Explore Art & Science with Life Technologies 

(By invitation only.) 




San Francisco Museum of 

Modern Art 

Agilent Customer Appreciation Event B Restaurant & Bar 

720 Howard Street 

ASHG Interactive Workshop 

on the UCSC Genome 

Browser for Intermediate/ 

Advanced Users (Advance 


ASHG Workshop: Social 

Media + Scientists = Success: 

Strategies for Using Social Media to 

Benefit Your Research, Your Career 

and Your Connections (Advance 


DNASTAR, Inc. Workshop: Cancer Genomics 

Data Analysis Using Next-Gen Sequencing: A 

Case Study and Workflow 



Level South 



South 



South 

Human Mutation Editorial Board Meeting Marriott Marquis Hotel 

Nob Hill C/D, Lower B2 Level 

Baylor College of Medicine Genetics 

Reception 

University of Michigan, Department of Human 

Genetics Alumni Gathering 

2012 Stanford University, Department of 

Genetics Reunion 

ACMG Biochemical Genetics Subcommittee 

Meeting 


Yerba Buena 10/11/12/13, 

Lower B2 Level 


Pacific C, 4th Level 

Roe-SF 



Sierra B, 5th Level 

ACMG Cytogenetics Subcommittee Meeting Marriott Marquis Hotel 

Sierra C, 5th Level 

ACMG Molecular Genetics Subcommittee 

Meeting 

THURSDAY, November 8 

7:00 AM - 

4:30 PM 

7:00 AM - 

5:00 PM 

7:00 AM - 

8:00 AM 

7:30 AM - 

5:00 PM 





South 







South 

ACMG Education Committee Meeting Moscone Center 


Level South 


North Lobby 

SOLD 

OUT 

SOLD 

OUT

8:00 AM - 

10:00 AM 

8:00 AM - 

4:30 PM 

10:00 AM - 

4:30 PM 

10:00 AM - 

4:30 PM 

10:30 AM - 

12:45 PM 


Concurrent Invited Session II (21-28): Moscone Center 

21. Mendelian Randomization: Using 

Genetic Variants to Inform Causality in 

Observational Epidemiology 

22. Common and Rare CNVs: Genesis, 

Patterns of Variations and Human 

Diseases 

23. Advancing Gene Therapy to the 

Clinic: Molecular Medicines 

Come of Age 

24. RNA Splicing in Human Development, 

Diseases and Natural Variation 

25. Genomic Medicine: ELSI Goes 

Mainstream 

26. Model Organism Genetics, Human 

Biology and Human Disease 

27. Next-Generation Sequencing in 

Isolated Populations: Opportunities for 

Accelerated Gene Discovery in 

Complex Traits 

28. Transforming Medical Student 

Education in Genetics and 

Genomics: How Do We Improve 

Health and Individualize Care 

through Medical School Genetic 

and Genomic Curricula? 


North 





North 


North 




North 


North 


South Lobby 




South 



South 


Session B (29-37): 

29. Next-Generation Sequencing: Methods Hall D, Lower Level North 

and Applications 

30. Genetics and Intellectual Disability Gateway Ballroom 103, 


31. GWAS from Head to Toe Room 135, Lower Level 

North 

32. Cardiovascular Genetics: GWAS and 

Beyond 

33. Clinical Genetics: Mutations, 

Mutations and Syndromes 


North 



34. Cancer Genetics II: Clinical Translation Room 124, Lower Level 

North 

SCHEDULE


12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

12:45 PM - 

2:00 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:00 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

35. Ethical, Legal, Social and Policy 

Issues 


North 

36. Chipping Away at Autoimmune Disease Room 130, Lower Level 

North 

37. Metabolic Disease Discoveries Room 123, Lower Level 

North 


and Exhibits 



South 

AJHG Editorial Board Luncheon Moscone Center 



ASHG Information and Education Meeting Moscone Center 


Level South 

ASHG Workshop: Diagnostic 

Challenges: Review and Discussion 

of Unique Cases, Rare and Unknown 

Cases (Advance ticket purchase required.) 

Association of Professors of Human and 

Medical Genetics (APHMG) and SIGs 

Business Meeting and Lunch 



Level South 



South 

Clinical Genetics Editorial Board Meeting Moscone Center 



Genetic Epidemiology Editorial Board Meeting Moscone Center 


Level South 

Human Variome Project Genetics Journal 

Editors Meeting 

Life Technologies Luncheon Workshop: 

Genetic Analysis at the Speed of Life 

SOLD 

OUT 

Illumina Workshop: Next-Generation 

Sequencing - Implications for the Clinical Lab 

Affymetrix Workshop: Enabling the Genome 

Generation #2: Next Generation Cytogenetics 

Solution for Constitutional and Cancer 

Research Applications 

Agilent Technologies Lunch Workshop: 

Microarrays & Beyond: Advancements in 

Cytogenetic Research Technologies - 

Maximizing Flexibility and Customization for 

Multiple Applications with NGS, FISH, and 

Microarrays 

Asuragen, Inc. Workshop: Next Generation 

Fragile X Testing: New Capabilities in Genetic 

Counseling, Reproduction, and Fertility 

Planning for Female FMR1 Carriers 



Level South 



South 



South 



South 



Level South 



Mezzanine Level South

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

*1:00 PM - 

2:00 PM 

*1:00 PM - 

2:00 PM 

1:00 PM - 

2:15 PM 

2:15 PM - 

4:15 PM 

4:30 PM - 

6:45 PM 

*6:45 PM - 

8:15 PM 

6:45 PM - 

8:15 PM 


BGI Luncheon Workshop: Human Disease 

Research and Drug Development in the Era of 

Next-Gen Sequencing 

BioNano Genomics Workshop: A Game- 

Changing Solution for Structural Variation 

Detection and Improving Assembly with 

Single-Molecule Visualization 

RainDance Technologies Workshop: Powering 

Recent Advances in Human Genetics 

BioDiscovery Nexus CNV Workshop: Recent 

CNV Discoveries and Integrated Genomics 

from NGS and Microarray Data 

ACMG Social, Ethical and Legal Issues 

Committee Meeting 



South 



South 






South 



Level South 

ACMG Therapeutics Committee Meeting Moscone Center 


Level South 

Pacific Biosciences Workshop: Revealing the 

Genome through SMRT Biology: Discoveries 


Poster Session II (Thursday Poster Authors 

Present) 

Concurrent Platform (abstract-driven) 

Session C (38-46): 

38. A Sequencing Jamboree: Exomes to 

Genomes 



Level South 



South 



39. Admixture and Demography Gateway Ballroom 103, 


40. Analysis of Multilocus Systems Room 135, Lower Level 

North 

41. Genes Underlying Neurological 

Disease 


North 

42. Cancer Genetics III: Common Variants Gateway Ballroom 104, 


43. Genetics of Craniofacial and 

Musculoskeletal Disorders 


North 

44. Tools for Phenotype Analysis Room 132, Lower Level 

North 

45. Therapy of Genetic Disorders Room 130, Lower Level 

North 

46. Pharmacogenetics: From Discovery to 

Implementation 

UC Davis Integrative Genetics and Genomics 

Reception 


North 


Sierra H, 5th Level 

PALB2 Interest Group Meeting Moscone Center 


Level South 

SCHEDULE


6:45 PM - 

9:00 PM 

*6:45 PM - 

9:30 PM 

6:45 PM - 

9:45 PM 

6:45 PM - 

10:00 PM 

6:45 PM - 

9:45 PM 

*7:00 PM - 

8:30 PM 

7:00 PM - 

8:30 PM 

7:00 PM - 

8:30 PM 

*7:00 PM - 

9:00 PM 

7:00 PM - 

9:00 PM 

7:00 PM - 

9:00 PM 

*7:00 PM - 

9:30 PM 

*7:00 PM - 

10:00 PM 

7:00 PM - 

10:00 PM 

*7:00 PM - 

8:00 PM 

7:30 PM - 

9:00 PM 

7:30 PM - 

9:30 PM 

8:30 PM - 

10:30 PM 

9:00 PM - 

11:00 PM 

Ion Torrent: Users Group Meeting W Hotel 

Great Room I/II 

Ingenuity Systems Reception 

TBA 

(By invitation only.) 

Emory University Department of Human 

Genetics Reception 


Pacific J, 4th Level 

Reception for Friends of RUCDR Marriott Marquis Hotel 

Nob Hill A/B, Lower B2 Level 

ENCODE-Epigenomics Common Fund 

Tutorial 

ASHG Interactive Workshop: 

Galaxy 101: Data Integration, 

Analysis and Sharing (Separate 

registration required.) 

Association of Chinese Geneticists in America 

(ACGA) Annual Meeting and Career Workshop 

UCLA Medical Genetics Training Program and 

Department of Human Genetics Reception 

Harvard Medical School Genetics Alumni 

Reception 

Johns Hopkins Institute of Genetic Medicine 

Alumni Reception 

Mount Sinai Department of Genetics and 

Genomic Sciences Alumni Reception 

ASHG Trainee Development Program 

and Networking: Science and Public 

Policy: Why Should Scientists Care 

About and Become Active in Public 

Policy Involving Science? (Separate 




Level South 



Level South 


Golden Gate C1, B2 Level 



Level 


Pacific C, 4th Level 


Pacific H, 4th Level 


Sierra C, 5th Level 



South 

ACMG Lab QA Committee Meeting Marriott Marquis Hotel 


23andMe Bar Night at the B B Restaurant & Bar 


GIANT Consortium Moscone Center 



Ohio State Scarlet & Gray Reception Marriott Marquis Hotel 

Nob Hill C/D, Lower B2 Level 

University of Maryland School of Medicine/ 

Program in Personalized and Genomic 

Medicine/Institute for Genome Sciences 

Reception 

University of Chicago Department of Human 

Genetics Dessert & Wine Reception 


Pacific B, 4th Level 


Yerba Buena 10/11, Lower 

B2 Level 

CHOP/PENN Reunion Marriott Marquis Hotel 

Yerba Buena 4, Lower B2 Level 

SOLD 

OUT

FRIDAY, November 9 

7:00 AM - 

4:30 PM 

7:00 AM - 

5:00 PM 

7:30 AM - 

5:00 PM 

8:00 AM - 

10:15 AM 

8:00 AM - 

4:30 PM 

10:00 AM - 

4:30 PM 

10:00 AM - 

4:30 PM 

10:30 AM - 

11:15 AM 

11:15 AM - 

11:45 AM 

11:45 AM - 

12:45 PM 

12:45 PM - 

2:15 PM 




South 







South 


North Lobby 


Session D (47-55): 

47. Structural and Regulatory Genomic Hall D, Lower Level North 

Variation 

48. Neuropsychiatric Disorders Gateway Ballroom 103, 


49. Common Variants, Rare Variants, and 

Everything in Between 


North 

50. Population Genetics Genome-Wide Room 134, Lower Level 

North 

51. Endless Forms Most Beautiful: Variant 

Discovery in Genomic Data 

52. Clinical Genetics: Complex 

Mechanisms and Exome-Discovery 

53. From SNP to Function in Complex 

Traits 

54. Genetic Counseling and Clinical 

Testing 

55. Mitochondrial Disorders and 

Ciliopathies 




North 


North 


North 


North 


South Lobby 




South 



South 

56. Gruber Genetics Prize Award 

Presentation and Rosalind Franklin 

Young Investigator Award 

Announcement 

57. ASHG William Allan Award 

Presentation 

58. ASHG Membership amd Business 

Meeting 


and Exhibits 









South 

SCHEDULE


*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

12:45 PM - 

2:15 PM 

*1:00 PM - 

2:00 PM 

2:15 PM - 

4:15 PM 

4:30 PM - 

6:45 PM 

ASHG Program Committee Meeting #2 Moscone Center 



ASHG Mock Study Section 

Workshop (Advance ticket 

purchase required.) 

ASHG/Galaxy Interactive 

Workshop: Working with 

High- Throughput Data and Data 

Visualization (Separate advance 


NEBNext: Take the Next Step with Your NGS 

Library Prep Reagents 

QIAGEN, Inc. Workshop: Automated 

Solutions for Quality Control and Validation of 

Next-Gen Sequencing 

Recent Advances in NGS Technologies for 

Rapid Discovery and Direct Clinical 

Applications 

Fluidigm Workshop: From Sample to 

Sequence Ready: Building robust amplicon 

libraries for targeted analysis and validation 

using the Access Array System 

CLC bio Workshop: Medical Resequencing 

Pipelines, and Streamlined Amplicon 

Sequence from NGS Data 



Level South 



Level South 



South 



South 






South 




ISCA Consortium Luncheon Marriott Marquis Hotel 


Level 

ACMG Economics Committee Meeting Moscone Center 


Level South 

Poster Session III (Friday Poster Authors 

Present) 


Session E (59-67): 



South 


59. Genome Structure and Variation Hall D, Lower Level North 

60. Advances in Neurodegenerative 

Disease 

61. Missing Heritability, Interactions and 

Sequencing 

62. Exome Sequencing Uncovers Etiology 

of Mendelian Disease 

63. Transcriptional Regulation, Variation 

and Complexity 




North 


North 



64. Epigenetics Room 124, Lower Level 

North 

SOLD 

OUT 

SOLD 

OUT

*7:00 PM - 

8:30 PM 

*7:00 PM - 

8:30 PM 

*7:00 PM - 

9:00 PM 

8:00 PM - 

12:00 

midnight 


65. Advances in Ocular Genetics Room 132, Lower Level 

North 

66. Cancer Genetics: Somatic Variants Room 130, Lower Level 

North 

67. Developmental Insights into Human 

Malformations 


North 

ASHG Trainee Awards Committee Meeting Moscone Center 



ASHG/Ensembl Interactive 

Worshop: Ensembl 

Web- Based Genomic Tools 

for Intermediate/Advance Users 

(Advance ticket purchase required.) 

Drama, Discourse and 

Genomics: IRBs to IFs— 

An Interactive Play (Advance 


UCSF Institute for Human Genetics and 

Medical Genetics Reception 

SATURDAY, November 10 

7:00 AM - 

10:30 AM 

7:30 AM - 

12:00 PM 

8:00 AM - 

8:20 AM 

8:20 AM - 

8:40 AM 

8:40 AM - 

8:45 AM 

8:45 AM - 

8:55 AM 

8:55 AM - 

9:20 AM 

9:40 AM - 

11:40 AM 







Level South 



South 

Museum of the African 

Diaspora 

685 Mission Street 



South 


North Lobby 

68. ASHG Award for Excellence in Human 

Genetics Education 

69. ASHG Victor A. McKusick Leadership 

Award Presentation 

70. AJHG C.W. Cotterman Awards 

Announcement 

71. ASHG Charles J. Epstein Trainee 

Awards for Excellence in Human 

Genetics Research: Announcement 

of Winners 









72. ASHG Curt Stern Award Presentation Moscone Center 


Concurrent Invited Session III (73-80): Moscone Center 

73. Returning Results from Large- 

Scale Sequencing: Where the 

Rubber Meets the Road 

74. Genomic Approaches to Mendelian 

Disorders 

75. Emerging Applications of Identity by 

Descent Segment Detection 

SOLD 

OUT 

SOLD 

OUT 






SCHEDULE


12:00 PM - 

1:00 PM 

76. The Functional Consequences of 

microRNA Dysregulation in Human 

Disease 

77. Centralizing the Deposition and 

Curation of Human Mutations 


North 


North 

78. Stem Cells and Personalized Medicine Room 135, Lower Level 

North 

79. Should Noninvasive Prenatal 

Diagnosis Augment or Replace 

Current Prenatal Screening and 

Diagnosis? 

80. Selection Signatures and the Genetics 

of Autoimmunity and Infectious 

Diseases 

81. Closing Plenary: Human Genetics 2012 

and Beyond: Present Progress and 

Future Frontiers 


North 


North 


Hall D, Lower Level North


*8:00 AM - 

3:00 PM 

7:00 PM - 

8:30 PM 

TRAINEE “MEETING WITHIN THE MEETING” 29 

TRAINEE TRACK 

Trainee “Meeting within the Meeting” 

ASHG Undergraduate Faculty Genetics 

Education Workshop (Advance registration 

required.) 

ASHG Opening Mixer and Trainee Mixerwithin-a-Mixer 

(Open to all scientific 

registrants.) 


10:00 AM - 

4:30 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*7:00 PM - 

8:30 PM 

*7:00 PM - 

8:30 PM 



South 


Yerba Buena 7/8/9, Lower 

B2 Level 

Career Resources Open Moscone Center Exhibit 

Hall, Lower Level South 

ASHG Trainee-Mentor Luncheon 


ASHG Workshop: Clinical 

Interpretation of Cytogenomic 

Arrays: Tools & Resources 


ASHG/NCBI Workshop: Discovering 

Biological Data at NCBI 


ASHG Interactive Workshop on the 

UCSC Genome Browser for 

Intermediate/Advanced Users 


ASHG Workshop: Social Media + 

Scientists = Success: Strategies 

for Using Social Media to Benefit Your 

Research, Your Career and Your Connections 



10:00 AM - 

4:30 PM 

*7:00 PM - 

8:30 PM 

*7:00 PM - 

9:30 PM 



Level South 



Level South 



South 



Level South 



South 

Career Resources Open Moscone Center Exhibit 

Hall, Lower Level South 



Analysis and Sharing 

(Separate registration required.) 

SOLD 

OUT 

SOLD 

OUT 

SOLD 

OUT 

SOLD 

OUT 

SOLD 

OUT 

SOLD 

OUT 

ASHG Trainee Development Program and 

Networking: Science and Public Policy: 

Why Should Scientists Care About and 

Become Active in Public Policy Involving 

Science? (Separate registration required.) 



Level South 



South 

TRAINEE TRACK

30 TRAINEE “MEETING WITHIN THE MEETING” 


10:00 AM - 

4:30 PM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*7:00 PM - 

8:30 PM 

*7:00 PM - 

9:00 PM 

Career Resources Open Moscone Center 


South 

ASHG Mock Study Section Workshop 


ASHG/Galaxy Interactive Workshop: 

Working with High-Throughput Data 

and Data Visualization (Separate 

advance registration required.) 

ASHG/Ensembl Interactive Worshop: 

Ensembl Web-Based Genomic Tools 



Drama, Discourse and Genomics: 

IRBs to IFs—An Interactive Play 



8:40 AM - 

8:45 AM 

8:45 AM - 

8:55 AM 

SOLD 

OUT 

SOLD 

OUT 

SOLD 

OUT 

SOLD 

OUT 

70. AJHG C.W. Cotterman Awards 

Announcement 

71. ASHG Charles J. Epstein Trainee 

Awards for Excellence in Human 

Genetics Research: Announcement of 

Winners 



Level South 



Level South 



Level South 



South 




Hall D, Lower Level North


*8:00 AM - 

3:00 PM 

EDUCATION TRACK 

ASHG Undergraduate Faculty Genetics 

Education Workshop (Advance registration 

required.) 


8:00 AM - 

10:00 AM 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*7:00 PM - 

8:30 PM 

*7:00 PM - 

8:30 PM 

EDUCATION TRACK 31 



South 

Concurrent Invited Sessions I (3-10): Moscone Center 

3. Implementing of Next-Generation 


9. Surveying Customer Responses to 



SOLD 

OUT 




ASHG/NCBI Workshop: Discovering SOLD 

OUT 

Biological Data at NCBI (Advance 


ASHG Interactive Workshop on 

SOLD 

OUT 

the UCSC Genome Browser for 



ASHG Workshop: Social Media + 

SOLD 

Scientists = Success: Strategies for 

OUT 

Using Social Media to Benefit Your 

Research, Your Career and Your Connections 



8:00 AM - 

10:00 AM 

*7:00 PM - 

8:30 PM 



North 



Level South 


Room 307, Esplanade 

Level South 



Level South 



South 




Mainstream 

North 

28. Transforming Medical Student 


Education in Genetics and Genomics: 

How Do We Improve Health and 

Individualize Care through Medical 

School Genetic and Genomic Curricula? 

North 




SOLD 

OUT 


Analysis and Sharing (Separate 


Level South 

EDUCATION TRACK

32 EDUCATION TRACK 

Friday, November 9 

*12:45 PM - 

2:15 PM 

*12:45 PM - 

2:15 PM 

*7:00 PM - 

8:30 PM 

*7:00 PM - 

9:00 PM 

ASHG Mock Study Section Workshop 


ASHG/Galaxy Interactive Workshop: 

Working with High-Throughput Data 

and Data Visualization (Separate 

advance registration required.) 

ASHG/Ensembl Interactive Worshop: 

Ensembl Web-Based Genomic Tools 






Saturday, November 10 

9:40 AM - 

11:40 AM 



Level South 



Level South 



Level South 



Level South 




SOLD 

OUT 

SOLD 

OUT 

SOLD 

OUT 

SOLD 

OUT 


North


8:00 AM - 

10:00 AM 

10:30 AM - 

12:45 PM 

*12:45 PM - 

2:15 PM 

CLINICAL TRACK 33 

CLINICAL TRACK CLINICAL TRACK 

Concurrent Invited Session I (3-10): Moscone Center 

3. Implementing Next-Generation 


4. Assessing the Pathogenicity of Genetic 

Variants: Translating in Vitro and in 

Silico Advances to the Clinic 

10. Metabolism, Metals, and 

Neurodegeneration: Toward 

Enhanced Understanding of Disease 

Mechanisms and Rational Therapeutics 





North 


Session A (11-19): 

18. Prenatal and Perinatal Genetics Room 130, Lower Level 

North 






8:00 AM - 

10:00 AM 

10:30 AM - 

12:45 PM 

*12:45 PM - 

2:15 PM 



Level South 


22. Common and Rare CNVs: Genesis, 

Patterns of Variations and Human 

Diseases 

23. Advancing Gene Therapy to the Clinic: 

Molecular Medicines Come of Age 


Mainstream 


Session B (29-37): 

33. Clinical Genetics: Mutations, Mutations 

and Syndromes 





North 




35. Ethical, Legal, Social and Policy Issues Room 132, Lower Level 

North 

ASHG Workshop: Diagnostic 

Challenges: Review and Discussion 

of Unique Cases, Rare and Unknown 

SOLD 

OUT 

SOLD 

OUT 

Cases (Advance ticket purchase required.) 



Level South

34 CLINICAL TRACK 

4:30 PM - 

6:45 PM 


Session C (38-46): 

45. Therapy of Genetic Disorders Room 130, Lower Level 

North 


8:00 AM - 

10:15 AM 

4:30 PM - 

6:45 PM 

*7:00 PM - 

9:00 PM 


Session D (47-55): 

52. Clinical Genetics: Complex 

Mechanisms and Exome-Discovery 

54. Genetic Counseling and Clinical 

Testing 


Session E (59-67): 

67. Developmental Insights into Human 

Malformations 





9:40 AM - 

11:40 AM 



North 


North 



North 



Level South 


SOLD 

OUT 

73. Returning Results from Large-Scale 

Sequencing: Where the Rubber Meets 

the Road 



79. Should Noninvasive Prenatal Diagnosis 

Augment or Replace Current Prenatal 

Screening and Diagnosis? 




North 


North

floor plans 

Moscone Center, 747 Howard Street 

Tel: 415-974-4000

floor plans 

Marriott Marquis Hotel, 55 Fourth Street 

Tel: 415-896-1600 

Mission Street 

Mission Tunnel 

Corridor to 

Yerba Buena 

Ballroom 

Lower B2 Level. 

YERBA BUENA BALLROOM 

Howard Street 

Howard 

Street 

Loading 

Dock 

Kitchen 

Bake 

Shop 

Banquet 

Office 

Assembly 

Willow 

Walnut 

Freight Door 10' x 10.6' 

Salon 14 

Salon 13 

Salon 12 

Salon 11 

Salon 10 

To 

Lobby 

A 

Golden Gate 

Registration A 

Business 

Center 

Laurel 

Fourth Street 

B 

Golden Gate 

Prefunction Area 

Golden Gate 

Registration B 

Juniper 

Yerba Buena Lane 

Elevators 

Elevators 

C3 

C2 

C1 

Shipping 

Receiving 

Marriott Marquis Hotel, B2 Level 

Salon 9 Salon 8 Salon 7 

Nob Hill D 

Fourth Street 

Service Corridor 

Yerba Buena 

Grand Assembly 

Nob Hill C 

Nob Hill B 

Nob Hill A 

Freight 

Elevator 

Service 

Elevator 

Fourth Street 

Loading Dock 

Salon 15 Salon 1 

To Golden 

Gate Hall 

North 

Registration 

B South A B A 

Registration 

Yerba Buena Gardens 

Marriott Marquis Hotel, Lower B2 Level 

Salon 2 

Salon 3 

Salon 4 

Salon 5 

Salon 6 

Assembly 

Elevator

Pacific 

(Fourth Floor) 

PACIFIC & SIERRA CONFERENCE SUITES 

Fourth & Fifth Levels (All conference suites have windows) 

F 

Pacific 

Y 

J 

Elevator Elevator 

Atrium 

Full 

Service 

Health 

Club 

H 

A B C 

Marriott Marquis Hotel, Level 3 

G 

F 

E 

D 


K 

Elevator 

J H G 

Garden Deck 

Pool 

Atrium 

Whirlpool 

A B C 

F 

E 

D 

Sierra 

(Fifth Floor) 

39

Map/HoTEls In asHG 

offICIal BloCK 

Hotel Questions: ASHG’s Official Housing 

Bureau: Convention Management Resources: 

Tel: 415-979-2272 or 1-800-750-4949. For onsite 

questions, visit the Housing Counter located in 

the Registration Area, Upper North Lobby. 

Marriott Marquis Hotel: 415-896-1600 

Courtyard by Marriott: 415-947-0700 

Grand Hyatt: 415-398-1234 

Hotel nikko: 415-394-1111 

Hotel palomar: 415-348-1111 

Intercontinental Hotel: 415-616-4500 

sir francis Drake Hotel: 415-392-7755 

W Hotel: 415-777-5300 

Westin Market street Hotel: 415-974-6400

The American Society of Human Genetics 

Hotel Map and Key 

Civic Center 

BART/Muni 

4 

7 

8 3 

5 1 

Powell 

BART/Muni 

1 San Francisco Marriott Marquis 

2 Courtyard by Marriott San Francisco Downtown 

3 Grand Hyatt San Francisco 

4 Hotel Nikko San Francisco 

5 Hotel Palomar 

6 InterContinental San Francisco 

7 Parc 55 Wyndham San Francisco-Union Square 

8 Sir Francis Drake Hotel 

9 W San Francisco 

10 The Westin San Francisco Market Street 

BART/Muni Stations 

6 

Montgomery 

BART/Muni 

10 

Hotel Locator Map 

9 

Embarcadero 

BART/Muni 

2 

41

Map/san franCIsCo Bay arEa 

rapID TransIT (BarT)

San Francisco Bay Area Rapid Transit/BART 

43

ABOUT THE MEETING 

GENERAL INFORMATION 

All events for the 62nd Annual Meeting of The American Society of Human Genetics 

will be held at the Moscone Center (Convention Center), unless otherwise indicated. 

The Convention Center is located at 747 Howard Street, San Francisco, CA 94103; 

Tel: 415-974-4000. Please see page 49 for telephone numbers and hotels in the ASHG 

official housing block. 

All Annual Meeting details are available on the ASHG 2012 Annual Meeting Web site 

at www.ashg.org/2012meeting. The Web site will serve as the official e-publication 

of the 2012 Annual Meeting. 

Abstracts 

Abstracts of the plenary, platform and poster presentations may be viewed online only 

at the ASHG meeting Website (www.ashg.org/2012meeting). Abstracts will not 

be available in print. NOTE: Speakers in the invited sessions are not required to 

provide abstracts. 

Abstract Search/Itinerary Planner 

For your convenience, abstract search/printing stations will be located in the 

Registration Area, North Lobby of the Convention Center. 

Invited Sessions 

The 2012 program is highlighted by 24 invited scientific sessions that have been 

scheduled over three concurrent time periods: (1) Wednesday, November 7 from 8:00 

am until 10:00 am (see page 69); (2) Thursday, November 8, from 8:00 am until 10:00 

am (see page 82); and (3) Saturday, November 10, from 9:40 am until 11:40 am (see 

page 119). 

Plenary Session Presentations (abstract-driven) 

The plenary session includes a diverse set of six presentations, selected from the toprated 

abstracts submitted for this year’s annual meeting as determined by the 2012 

Program Committee. These six abstracts have been programmed from 4:30 pm until 

6:30 pm on Tuesday. Each author will give a 15-minute presentation, with an additional 

five minutes for discussion. The first author listed is the presenting author. See page 

68 for a complete description of this session. 

Platform Sessions (abstract-driven) 

The Program Committee has assembled 45 abstract-driven platform sessions totaling 

405 oral presentations. Each presenting author will give a 10-minute talk followed by 

five minutes of discussion. There are five sets of nine concurrent platform sessions 

as follows: (1) Wednesday, November 7 from 10:30 am until 12:45 pm (see page 73); 

(2) Thursday, November 8 from 10:30 am until 12:45 pm (see page 86); (3) Thursday, 

November 8 from 4:30 pm until 6:45 pm (see page 94); (4) Friday, November 9 from 

8:00 am until 10:15 am (see page 101); and (5) Friday, November 9 from 4:30 pm until 

6:45 pm (see page 110). 

45 

GENERAL INFORMATION

46 GENERAL INFORMATION 

Poster Sessions (abstract-driven) 

To encourage scientific discussions and to facilitate the exchange of information, 

posters are grouped by related topics, keyword (selected by the first author at the 

time of abstract submission), and alphabetical order by the last name of the first 

author. The first author listed is the presenting author. The program number and the 

abstract/poster board number are one and the same. It appears in bold print followed 

by the abstract title and author names. Each number is followed by a W (Wednesday), 

or T (Thursday), or F (Friday)to indicate the day on which authors must be present at 

their poster board. Each author is expected to be present for one of the two hours 

during that day. The posters are expected to remain on the boards for all three poster 

sessions. See page 125 for poster mounting/removal schedule and presentation 

times. Poster listings begin on page 127. 

Mobile App 

NEW 

Download the ASHG 2012 Mobile App to your smartphone (iOS, Android, 

and Blackberry platforms). The Mobile App gives you the meeting at your 

fingertips wherever you go. Once the App has been downloaded, you do not need an 

Internet connection to view information. Please refer to the ad on page 422. 

Mobile Web Site 

Access the ASHG 2012 mobile Web site at http://m.ashg.org and bookmark it on 

your Web-enabled mobile device so that you have important meeting information 

at your fingertips. The mobile Web site is an alternative option for those attendees 

that do not have a smartphone. An Internet connection is required when viewing the 

mobile Web site. 

Social Media 

This year, views of the meeting attendees will be followed through 

ASHG’s social media outlets and will be summarized at the closing 

session. Attendees are encouraged to post their thoughts on exciting 

scientific or clinical advances they have heard about during the meeting, 

and on challenges that the field will face, by using hashtag #ASHG2012. 

Questions for the closing panelists can also be sent to Chris Gunler via 

twitter @girlscientist or our Facebook page, https://www.facebook. 

com/GeneticsSociety. Follow ASHG on Twitter: @GeneticsSociety. 

Please refer to the ASHG 2012 Annual Meeting Web site under general information 

for the do’s and don’ts of Social Media. Remember, everything is tweetable unless a 

speaker requests otherwise. 

Session Tracks 

The schedule once again features separate schedules that list sessions of relevance 

to Trainees, as well as Education and Clinical tracks. Please look for the following 

symbols and refer to page 29, 31 and 33 for the schedules. 

Indicates Clinical-focused events 

Indicates Education-focused events 

Indicates Trainee-focused events

REGISTRATION, BADGE AND PROGRAM PICK UP 

GENERAL INFORMATION 47 

Scientific meeting registration, badge, program, and bag pickup is located in the North 

Upper Lobby of the Convention Center and is open during the following hours: 

Tuesday, November 6 10:00 am – 7:00 pm 

Wednesday, November 7 7:00 am – 5:00 pm 

Thursday, November 8 7:00 am – 5:00 pm 

Friday, November 9 7:30 am – 5:00 pm 

Saturday, November 10 7:30 am – 10:30 am 

Exhibitor registration is located in the South Lobby. See page 48 for exhibitor registration 

hours. 

Registration Fees 

The registration fee includes entry to all invited scientific sessions, platform sessions, 

award presentations, poster sessions, exhibits, and to the opening mixer. The fee 

does not include admission to separate ticketed events and does not include meals 

or hotel costs. Registration may be paid by cash, check, money order or credit card 

(American Express, MasterCard or VISA). 

Registration fees are shown in U.S. dollars 

After September 4 Starting November 6 

ASHG Member $500 $600 

Nonmember $750 $850 

Trainee ASHG Member 1 $275 $300 

Trainee Non-member 1 $475 $525 

Developing Country 2 $350 $400 

Guest Registration 3 N/A $125 

One-day registration is not available. 

1 Trainees may register at the trainee rates for the meeting. Postdoctoral fellows and students working 

toward a degree in human genetics or an allied field qualify. Trainees will be asked to provide certain 

information to determine eligibility. Trainees who register at the meeting should bring a student ID card or a 

letter signed by their department or laboratory head to certify trainee/student/fellow status. 

2 Developing Country Delegates may register at this rate if they are from a country that is classified by the 

World Bank as lower income or lower-middle income. Identification such as a passport is required. 

3 Guest registration will be available on-site only for family members or special guests of registered 

delegates. Guest registration fee is $125 per guest and includes admission to the Opening Mixer and the 

Exhibit Hall. The guest registration does not include access to scientific sessions. In order to register as 

a guest, you must be accompanied by a paying scientific registrant. Please go to the Registration Help 

Counter located in the Registration Area. Guests will be issued different colored badges from scientific 

registrants. 

GENERAL INFORMATION


Registration Receipt 

The back of your badge is your registration receipt. Please retain this for your records. 

Replacement, Lost or Forgotten Badges 

A $5 fee will be charged to registrants for each replacement badge requested i.e., 

to replace badges that are left at home or in hotel rooms, lost or forgotten. 

Questions should be directed to the Registration Help Counter. Telephone: 415-978- 

3607. 

MEETING INFORMATION, SERVICES AND OFFICES 

ASHG Office and Meeting Logistics – Room 111, Lower Level North 

Questions about housing, ancillary meetings, audio-visual, on-site logistics, and lost 

and found should be directed to this office. CME and CEU tracking forms are also 

available. Telephone: 415-978-3600. The office hours are as follows: 





Saturday, November 10 7:00 am – 12:30 pm 

Membership questions should be directed to the ASHG Booth at ASHG Central inside 

the Exhibit Hall. 

ASHG Central – Exhibit Hall, Lower Level South 

Visit ASHG Central to address membership questions, view sample publications, 

apply for membership, and to find out more about ASHG. Also available in ASHG 

Central will be editors of the American Journal of Human Genetics ( AJHG). The AJHG 

provides a record of research and review relating to heredity in humans, the application 

of genetic principles in medicine and public policy, and related areas of molecular and 

cell biology, behavioral, molecular, biochemical, population and clinical genetics. Also 

available is additional information on the city of Boston, Massachusetts, the site of 

ASHG’s 2013 Annual Meeting and register to win a gift from the Boston Convention and 

Visitor’s Bureau! 

ASHG Central is located in booth #913, in the very center of the Exhibit Hall! It is 

open during exhibit hours and will have comfortable seating, charging stations, Wi-Fi 

access, and much more! We hope you stop by to see us while visiting the exhibits 

and posters. You can also meet ASHG 2012 Board and Program Committee members 

during poster session hours. Make ASHG Central your destination for networking, 

plugging in, and for all the ASHG information you need!


Assistance for Attendees 

Registrants with questions regarding special needs for auxiliary requirements 

(such as hearing assistance/sign language interpretation), housing, 

and transportation should contact the ASHG office in advance by e-mailing 

ashgmeetings@ashg.org with your specific request. NOTE: It may not be possible to 

accommodate last-minute and on-site requests. 

For information on accessibility within San Francisco, visit http://www.acessnca. 

com. If you have difficulty in walking long distances, you may want to consider renting 

a mobile scooter from Scoot Around. For details or reservations, call 888-441-7575 

or visit www.scootaround.com. For a list of taxi companies that offer ramp access, 

see page 54. 

Attire/Dress Code 

Attire for the meeting is business casual. Remember to dress in layers and wear 

comfortable walking shoes. You may want to carry a small umbrella as San Francisco 

can often have rain showers in November. 

Business Center – Lower Level South 

The Convention Center has a full-service business center for your convenience. It will 

be open from Tuesday through Friday. Hours will be posted outside the entrance. The 

business center will provide an array of services including copying, printing, faxing, 

Internet access, shipping, and office supplies. Please refer to page 51 for information 

on Internet and Wi-Fi access. 

Career/Employment Opportunities – Exhibit Hall, Lower Level South 

The ASHG/FASEB Career Center will operate Wednesday through Friday inside the 

Exhibit Hall during exhibit hours. Job seekers and employers should submit their 

résumés/job descriptions on 8½” x 11” paper to the ASHG/FASEB Career Center 

staff for posting on the employment poster boards inside the Exhibit Hall. Employers 

may also e-mail job descriptions to careers@faseb.org. Visit the FASEB/Career 

Resources Web site at http://careers.faseb.org for details. 

Cell Phone/Camera/Recording Policy 

Attendees are strictly prohibited from using cameras and all other recording 

devices in all meeting session rooms, on the Exhibit Hall floor, and in all poster/ 

oral presentations. This means that attendees are not permitted to take pictures or 

videos of speaker slides, posters or exhibit booths. Attendees not adhering to this 

policy may be asked to leave the room and will be asked to delete all pictures or 

videos already taken, and further action may be taken with repeated or egregious 

offenders. When registering, you agreed to adhere to this policy. Please remember to 

turn off or place on silent cell phones or other devices before entering meeting rooms. 

CMEs and CEUs 

Please refer to page 325 for information. Tracking forms are located at the ASHG 

Information Counter in the North Lobby, at ASHG Central inside the Exhibit Hall and 

at the Society Office, Room 111. 

GENERAL INFORMATION


Exhibits – Exhibit Hall, Lower Level South 

Exhibits will be open daily on Wednesday, Thursday and Friday from 10:00 am until 

4:30 pm. The Exhibit Hall features hundreds of companies from around the world 

showing their latest products and services. More information on who is exhibiting can 

be found either through an alphabetical listing of companies with descriptions starting 

on page 269 or a listing by products and services where companies may be located 

by keyword beginning on page 299. Your barcoded badge will allow you to enter 

contests and request additional information from companies in the Exhibit Hall. For 

additional information on other features in the Exhibit Hall, please see page 267. 

NOTE: Children under the age of 18 may be admitted into the Exhibit Hall only if they 

are accompanied by a paid scientific registrant. 

Exhibit Registration and Exhibit Management – South Upper Lobby 

The Exhibit Management Office and Exhibit Registration are located in the South 

Lobby. Exhibitor Registration hours are as follows: 





Family/Nursing Mothers Room – Room 203, East Mezzanine Level South 

The family room is open during registration hours. The purpose of the room is to 

give parents and children a place to relax during the convention. Attendees are not 

permitted to use this room for babysitting services. Room 218 has also been set aside 

for nursing mothers to have privacy. 

First Aid – Lower Level (North and South) 

There are two locations for first aid rooms. The first is located outside Hall D in the 

North building, telephone 415-974-4096 and the second is located outside Hall C 

in the South building, telephone 415-974-4090. The First Aid Room is staffed Monday 

through Saturday by trained personnel able to handle various medical problems and 

emergencies that might arise. If you are witness to a medical emergency inside the 

Convention Center, please dial 511 from any house phone, or 415-974-4021 from 

your mobile device. The number to call for emergencies outside of the Convention 

Center is 911. 

Food Service – Exhibit Hall, Lower Level 

Food concessions will be open in the Exhibit Hall (Wednesday through Friday) during 

exhibit and poster hours. Portable food stands will also be available in various areas 

throughout the Convention Center, Wednesday through Saturday. The concession 

stands will offer a variety of “grab and go” foods. Hours will be posted on-site. ASHG 

will provide coffee service each morning outside session rooms and will provide light 

lunch refreshments inside the Exhibit Hall during the lunch period on Wednesday, 

Thursday and Friday.


Housing/Hotels – North Upper Lobby 

See page 41 for the hotel locator map. For housing inquiries, visit the housing counter 

located in the registration area (Tuesday through Friday). Hours will be posted at the 

counter. The on-site telephone number is 415-978-3609. You may also contact the 

official ASHG 2012 Housing Bureau: Telephone: 415-979-2272 or 1800-750-4949; 

e-mail ashghousing@cmrus.com. Below is a list of official ASHG hotels. 

Marriott Marquis Hotel (Headquarter): 415-896-1600 

Courtyard by Marriott: 415-947-0700 

Grand Hyatt: 415-398-1234 

Hotel Nikko: 415-394-1111 

Hotel Palomar: 415-348-1111 

Intercontinental Hotel: 415-616-4500 

Sir Francis Drake Hotel: 415-392-7755 

W Hotel: 415-777-5300 

Westin Market Street Hotel: 415-974-6400 

We suggest you put the number of the hotel you are staying at into your mobile 

device/cell phone. 

Information – North Upper Lobby 

The information counter will be open during registration hours (see page 47). 

Telephone: 415-978-3606. Please stop by the information counter to pick up CME 

and CEU tracking forms. 

Internet (Wi-Fi) Access and Cyber Café 

Complimentary Wi-Fi (supported by Genzyme) is available in all public lobbies and 

meeting space of the Moscone Center. The service is not available inside the Exhibit 

Hall and Posters. Attendees who wish to use the Wi-Fi service should bring their own 

laptop or PDA with a wireless 802.11/g network card installed. To access this service, 

open your browser and set the SSID (wireless network identified) to ASHG2012. You 

will need to set your network card to use DHCP. Open a web browser and click the login 

button to continue. Technical support will not be provided at the meeting. Remember 

to consider the security implications of using the wireless network and protect your 

laptop accordingly. The Cyber Café is located in the North Building, Lower Concourse 

Level and is open during registration hours. Attendees are asked to limit their time to 

15 minutes per visit. 

Luggage Storage and Coat Check – South Upper Lobby 

Facilities for luggage storage and coat check are available Wednesday through 

Saturday. This service is complimentary. Please do not take luggage into the session 

rooms. All items must be checked in and checked out on the same day. Items should 

not be left overnight. 

Message Center/Literature Area – South Building, Lower Level 

Leaving messages at the message center is the best way to contact another attendee for 

whom you do not have more direct contact information. Please note that it is not possible 

to page an attendee. Attendees can post fliers advertising social events or upcoming 

meetings. Exhibitors are not permitted to display materials in the literature area. 

GENERAL INFORMATION


Parking 

The Convention Center does not have on-site parking. However, there are many parking 

garages nearby. View the Convention Center’s parking map at www.moscone.com 

to find a nearby parking garage. You can also visit the SFMTA Web site at 

www.sfmta.com for information on parking around the city. 

Prayer Room – Room 266, West Mezzanine Level South 

This room has been set aside for prayer and meditation and will be open during 

registration hours. 

Press Office – Room 113, Lower Level North 

Journalists should go directly to Room 113 to receive a press badge, program 

schedule, news releases and other media materials. The Press Office is open T uesday 

through Saturday only for registered journalists. For more information about press 

registration procedures, policies/guidelines and on-site media events at the 2012 

meeting, please contact Cathy Yarbrough at press@ashg.org. 

Registration Management/Registration Help Desk – North Upper Lobby 

Questions regarding registration should be directed to the Registration Help Desk. 

See registration hours listed on page 47. Telephone: 415-978-3607. 

Restaurant/City Information/Tours and Activities 

San Francisco Travel will provide city information at the permanent counter located in 

the South Upper Lobby. City maps and brochures on local attractions are available 

in this area. 

Not sure where to dine in San Francisco? Contact RESERVATIONS TONIGHT! at 

www.reservationstonight.com or call them toll free in the U.S. at 800-392-DINE (3463). 

Outside the U.S. call 707-795-4885. Assistance will be available at the Restaurant 

Reservations counter located in the Registration Area of the North Upper Lobby as 

follows: 

Wednesday 10:00 am – 5:00 pm 

Thursday 10:00 am – 5:00 pm 

Friday 10:00 am – 5:00 pm 

Speaker-Ready/Presentation Upload Room – Room 110, Lower Level North 

The Speaker-Ready/Presentation Upload Room will be open daily as follows: 

Tuesday 11:00 am – 4:30 pm 

Wednesday 7:00 am – 5:00 pm 

Thursday 7:00 am – 5:00 pm 

Friday 7:00 am – 5:00 pm 

Saturday 7:00 am – 11:00 am 

All speakers are required to upload their presentation in advance of the session. 

We encourage you to do this at least 4 hours before the start of your presentation 

time. Speakers are not permitted to take their laptop to the lectern for use during 

their presentation. On the day of presentation, speakers should arrive at the session 

room and check in with the audio-visual technicians and moderator about one-half 

hour before the scheduled start of the session. For speaker questions, please e-mail 

the ASHG Meeting Management Office at ashgmeetings@ashg.org.


A speaker/author index begins on page 333. Names of all speakers, presenting authors 

and co-authors are listed followed by their session or abstract number(s). 

Speaker Conflict of Interest: Beginning on page 329 is an alphabetical list of invited 

session speakers and authors of abstracts who have disclosed the existence of 

significant financial interest or other relationships the presenter has with companies or 

organizations that may be perceived to bias the presentation. This information allows 

the listener/attendee to be fully knowledgeable in evaluating the presentation, and 

is required to meet CME and CEU requirements. All speakers will have a conflict of 

interest slide automatically inserted into their presentation. For speakers that indicated 

a conflict, the disclosure information you completed during your abstract submission 

or completion of the online conflict of interest form will automatically be used. 

Telephone Numbers for ASHG On-Site Offices 

All offices are located at the Convention Center 

ASHG Office and Meeting Management, Room 111: 415-978-3600 

Exhibitor Registration and Management, South Upper Lobby: 415-978-3605 

Convention Center, Moscone Center Main Number: 415-974-4000 

First Aid, Moscone North, Lower Level: 415-974-4096 

First Aid, Moscone South, Lower Level: 415-974-4090 

Housing Counter, North Upper Lobby: 415-978-3609 

Information Counter, North Upper Lobby: 415-978-3606 

Message Counter, North Upper Lobby: 415-978-3606 

Press Office, Room 113: 415-9783614 

Registration Help Counter, North Upper Lobby: 415-978-3607 

Restaurant Reservations Counter, North Upper Lobby: 415-978-3621 

Security (ASHG Show Management): 415-978-3620 

Security (Convention Center): dial ‘511’ from any house phone 

Emergency/Police/Fire: dial ‘511’ from any house phone 

Non-emergency: dial ‘4021’ from any house phone 

Travel and Visitor Information 

San Francisco is famous for its scenic beauty, cultural attractions, diverse communities, 

and world-class cuisine. San Francisco’s landmarks include the Golden Gate Bridge, 

cable cars, Fisherman’s Wharf, Alcatraz, Chinatown, Union Square, and North Beach. 

The San Francisco Travel Visitors Center is located at 900 Market Street (on the 

lower level of Hallidie Plaza, next to the cable car turn table at Powell and Market 

Streets) and is open Monday through Friday from 9:00 am to 5:00 pm. 

Tax: Sales tax: 9.5%; Hotel tax: 15% occupancy tax, 1.5% tourism fee and $0.25 

commerce fee 

Temperature: Average high in November is 64°F or 18°C and average low is 51°F or 

10°C; average rain fall is 3 inches (80mm). The golden rule when packing for a trip to 

San Francisco is to wear layers! Fog can roll in at any time, and areas near the water 

can feel cool. 

GENERAL INFORMATION


Tipping Guidelines: Tipping is expected in the U.S. Below are some guidelines to follow: 

• Waiters usually receive 15–20% of the bill. In some cases, the tip is automatically 

added to your bill. You should always check before adding a gratuity. 

• Maids usually receive $1-$2 per room per day. You should leave the tip daily 

and not at the end of your stay. 

• Taxi drivers usually receive 15% of the fare. 

• Doormen, Skycaps, and porters usually receive $1/bag 

Transportation/Getting Around 

Bay Area Rapid Transit (BART): BART is the fast, easy, inexpensive way to get to 

downtown San Francisco and around the Bay Area. BART operates five routes with 

service to 43 stations, including stops at SFO and OAK airports. The closest stations to 

ASHG official hotels are the Powell Street station and the Montgomery Street station. 

Visit www.bart.gov for further information and station listings. See Map on page 43. 

Cable Cars and Historic Street Cars (operated by MUNI): San Francisco’s vintage 

electric streetcars run along the F-line. Stops can be found every few blocks on Market 

Street and The Embarcadero between the Castro District and Fisheman’s Wharf (often 

near glass bus stop shelters). The cable streetcars run along Powell Street to Hyde 

or Mason. The California street line goes from California and Market to California and 

Van Ness (a less crowded option)! If you are unsure what the difference is between 

cable cars and streetcars, remember: a street car has a trolley pole connected to an 

overhead wire, while a cable car runs on street rails and has no overhead wires. 

Parking: View the Convention Center’s parking map at www.moscone.com to find a 

nearby parking garage. You can also visit the SFMTA Web site at www.sfmta.com for 

information on parking around the city. 

San Francisco Municipal Railway (MUNI): MUNI provides transit within the city and 

county of San Francisco 24 hours a day, seven days a week. You can buy a Visitor 

Pass for unlimited rides on MUNI, including cable cars (good for three or seven 

consecutive days). 

Taxis: Using taxis is a great way to get around quickly. San Francisco can be 

challenging with its steep hills and attractions scattered around the city. The average 

price for a taxi from the airport is between $40 and $45, plus 15% tip. Regardless of 

what taxi company you select, rates are set for all companies by the San Francisco 

Municipal Transportation Agency (SFMTA). Below are some taxi companies that 

operate in downtown San Francisco. These companies offer ramped mini vans for 

those in wheelchairs or with scooters, advance reservations required: 

Checker 415-206-1900 

DeSoto 415-970-1300 

Luxor 415-282-4141 

Regents 415-487-1004 

Town Taxi 415-401-8900 

Yellow 415-626-2345 

Walking: San Francisco is a great city to walk and explore the unique neighborhoods. 

All hotels in the ASHG hotel block are within a short walk of the Convention Center.

DAILY MEETING HIGHLIGHTS 55 

DAILY MEETING HIGHLIGHTS AND WORKSHOPS 

Tuesday, November 6 

Undergraduate Faculty Genetics Education Workshop 

8:00 am – 3:00 pm, Room 300, Esplanade Level South 

This session for undergraduate faculty, organized by the ASHG Undergraduate 

Subcommittee, covers human genetics content and pedagogies. The goal is to 

encourage effective teaching of human genetics so that it contributes to improving 

the genetic literacy of students. Breakfast and lunch will be served. For further 

information, contact Katherine Lontok at klontok@ashg.org. The registration fee is 

not refundable. Separate advance registration required. 

High School Workshop for San Francisco Students and Teachers 

8:30 am – 2:30 pm, Room 303/305, Esplanade Level South 

The High School Workshop is organized by the ASHG Information and Education 

Committee. Students and teachers will interact with genetics researchers and learn 

about the field of human genetics. The workshop will include several inquiry-oriented 

genetics lessons on newborn screening, DNA forensics, epigenetics, complex traits, 

family history, and malaria/population genetics. 

Presidential Address 

4:00 pm – 4:30 pm, Hall D, Lower Level North 

The Presidential Address, entitled “The Scientist as a Citizen of the World” will be 

presented by Mary-Claire King. See page 68 for a description of this session. This 

session will be available for viewing live on the ASHG 2012 Meeting Web site at 

www.ashg.org/2012meeting. 

Plenary Abstract Presentations 


Six authors will present in this session. Each author will give a 15-minute presentation, 

with an additional five minutes for discussion. See page 68 for a description of this 

session. 

Opening Mixer and Trainee Mixer-within-a-Mixer 

7:00 pm – 8:30 pm, San Francisco Marriott Marquis Hotel, Yerba Buena 7, Lower 

B2 Level 

The opening mixer is open to all scientific registrants and registered guests. The 

mixer offers a relaxed atmosphere in which attendees can become acquainted and 

reacquainted with colleagues. Light snacks, refreshments and a cash bar will be 

offered. 

Trainees should look for the designated area. Trainees will receive one complimentary 

beverage ticket, which will be printed on trainee badges. Please 

remember to bring this ticket with you. 

For those interested in knowing the results of the U.S. general election, large screens 

airing the results will be located inside the Opening Mixer Ballroom after the conclusion 

of the plenary session. 

DAILY MEETING HIGHLIGHTS

56 DAILY MEETING HIGHLIGHTS 

Wednesday, November 7 

Trainee-Mentor Luncheon 

12:45 pm – 2:15 pm, Room 303/305, Esplanade Level South 

The Trainee-Mentor Luncheon is a wonderful opportunity for trainees (graduate 

students, postdoctoral fellows and clinical fellows) in the field of human genetics to 

meet and talk informally with senior members of the Society about career options, 

goals, and professional opportunities. The luncheon is held on the first day of the 

meeting so that students can continue their discussions with these mentors at other 

times during the course of the meeting. Lunch will be served. Please see the ASHG 

Meeting Web site (under workshops) for a list of mentors. Tickets are non-refundable. 

Separate advance registration required and admission is by advance ticket purchase 

only. 

Discovering Biological Data at NCBI 

12:45 pm–2:15 pm, Room 307, Esplanade Level South 

Peter Cooper from the National Center for Biotechnology Information (NCBI) will 

present this workshop, which will provide both general strategies for finding data at 

the NCBI and an introduction to various tools for visualizing and analyzing sequence 

data. This workshop will give a basic introduction to using the Entrez system performing 

searches, and finding data on human genes. Specific tasks covered include finding 

reference sequences, mapping variations, identifying homologous genes, exploring 

expression studies, and using My NCBI to save searches and manage data. Tickets are 

non-refundable. Separate advance registration required and admission is by advance 

ticket purchase only. 

Workshop requirements: Registrants must bring a laptop to this session in order to 

participate. Laptops should have full battery power and must have a wireless card. 

Clinical Interpretation of Cytogenomic Arrays: Tools and Resources 


Darrel Waggoner, University of Chicago, and Christa Lese Martin, Emory University, 

will present this workshop, which is geared for clinical geneticists and residents, 

genetic counselors and genetic counseling students, laboratory directors, laboratory 

training fellows, and other laboratory personnel. This interactive session will cover 

basic information about the differences between the various array platforms and will 

discuss strategies for choosing the appropriate platform for your patients, including 

issues related to repeating arrays utilizing different platforms. Tickets are nonrefundable. 

Separate advance registration required and admission is by advance ticket 

purchase only. 



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OUT 

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Presidential Symposium 


This symposium, organized by Mary-Claire King and entitled “Gene Discovery and 

Patent Law: Present Experience in the U.S. and in Europe,” will explore the present 

extraordinary pace of gene discovery, the question of who, if anyone, owns newly discovered 

genes will be critical to research and practice in human genetics. This issue 

has been before the U.S. Supreme Court and remanded to the Federal District Court 

of Appeals as Association for Molecular Pathology et al. v. Myriad Genetics. In order 

to understand the legal issues represented by this case, the role of this case in the 

larger context of legal issues in genetics, and the consequences of the decision on 

this case for research and services in human genetics, a panel of experts will discuss 

and educate us on this issue. See page 81 for a list of panelists and for a detailed 

description of this session. 

UCSC Genome Browser Interactive Workshop for 

Intermediate/ Advanced Users 


Robert Kuhn and Pauline Fujita, University of California, Santa Cruz, will present this 

interactive workshop on Web-based genomic tools. The workshop will demonstrate 

the use of Table Browser to access more than five terabytes of genomic data in the 

UCSC database. Methods for intersecting data between linked tables and filtering 

data to access specific subsets of large datasets will be covered. Automated program 

driven querying of data in the public MySQL database will also be demonstrated. 

Tickets are non-refundable. Separate advance registration required and admission 

is by advance ticket purchase only. 



Social Media + Scientists = Success: Strategies for Using Social 

Media to Benefit Your Research, Your Career, and Your Connections 

7:00 pm – 8:30 pm, Room 310, Esplanade Level South 

This workshop, which is moderated by Jonathan Gitlin, NHGRI, will involve short presentations 

from panelists who have extensive experience using social media, followed 

by a highly interactive discussion with the audience. The panelists are drawn from 

a cross-section of the genomics community and include an early-stage researcher 

(Daniel MacArthur, Harvard University), a senior faculty investigator and 2012 Program 

Committee Member/former editor for Nature (Chris Gunter, Hudson Alpha), and an 

industry representative in the commercial sector (Shirley Wu, 23andMe). The session 

will feature a brief “Social Media 101” tutorial and attendees will leave the workshop 

armed with knowledge about effective ways to use social media in the context of their 

genetics/genomics work. Tickets are non-refundable. Separate advance registration 

required and admission is by advance ticket purchase only. 

SOLD 

OUT 

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Thursday, November 8 

Diagnostic Challenges: Review and Discussion of Unique Cases 

(Rare and Unknown) 


This event is organized and moderated by Karen W. Gripp, A. I. duPont Hospital for 

Children, and Pedro Sanchez, Children’s Hospital Los Angeles/University of Southern 

California. The session provides an opportunity for registrants to present cases (rare 

and unknown) to a panel of expert clinical geneticists (see below) for discussion of 

differential diagnosis, treatment and counseling options. The session provides a lively 

give-and-take discussion in an informal environment between the audience and the 

panel as each case is presented. Audience participation in suggesting diagnosis or 

testing is encouraged. 

Panelist Area of special interest 

Margaret Adam Dysmorphology/Teratology 

Cynthia Curry Dysmorphology 

Bill Dobyns Brain Malformation 

Dian Donnai Dysmorphology 

Karen Gripp Rasopathies/Dysmorphology 

Julie Hoover-Fong Skeletal Dysplasia 

Micheil Innes Dysmorphology 

Marilyn Jones Craniofacial Anomalies 

Stephen Kahler Metabolic Disorders 

Pedro Sanchez LDDB, Possum Database 

Anne Slavotinek Eye Malformation/Diaphragmatic Hernia 

Andrea Superti-Furga Skeletal Dysplasia 

Alain Verloes Dysmorphology 

Each case will be presented using PowerPoint, with a limit of six slides and three 

minutes per presentation. Best suited are “visuals” with plenty of images. Any slides 

depicting patient information or images must have the consent of the patient. 

It is each presenter’s responsibility to obtain consent prior to sharing identifiable 

information. The discussion by the expert panel will follow the presentation. 

Discussion will be limited to five minutes. Tickets are non-refundable. Separate 

advance registration required and admission is by advance ticket purchase only. 

Galaxy 101: Data Integration, Analysis and Sharing SOLD 

OUT 


Jennifer Hillman-Jackson, Penn State, and Jeremy Goecks, Emory University, will 

present this workshop which is an introduction to Galaxy’s basic functionality as an 

analysis and data integration framework for accessible, reproducible, and transparent 

biomedical research. In this workshop, participants will learn how to use the Galaxy 

Web server (http://usegalaxy.org/) to integrate and analyze biomedical data, including 

how to (1) load and integrate your own data with data from popular online resources; 

(2) perform common analysis/operations on genomic data; and (3) save, share, describe 

and publish your analysis and generated datasets. Tickets are non-refundable. Separate 


SOLD 

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Trainee Development Program and Networking Session 


This event is organized by the ASHG Professional Development Committee, and will be 

led by Derek Scholes, NHGRI, and Tyrone Spady, FASEB. This year’s program will focus 

on science and public policy: Why should scientists care about and become active in 

public policy involving science? Consider the effect of policy on research and funding, 

education/training, and career development. Come take part in a discussion and see how 

you might engage with policy in ways that advance research, medicine, education, etc. 

A networking session follows the formal program. Tickets are non-refundable. Separate 



Gruber Genetics Prize Presentation and Lecture/Rosalind Franklin Award 

Announcement 

10:30 am – 11:15 am, Hall D, Lower Level North 

The Gruber Genetics Prize honors scientists for distinguished contributions in any 

realm of genetic research. Dr. Douglas Wallace, Children’s Hospital of Philadelphia, 

will be presented with the 2012 Gruber Genetics Prize. An acceptance lecture is 

scheduled. The Rosalind Franklin Award winners will also be announced. See page 

107 for a description of this session and a list of past winners. 

William Allan Award: Presentation and Lecture 


The William Allan Award is presented annually to recognize substantial and far-reaching 

scientific contributions to human genetics, carried out over a sustained period of 

scientific inquiry and productivity. Dr. Uta Francke, Stanford University, will be 

presented with the 2012 William Allan Award. An acceptance lecture is scheduled. 

See page 108 for a description of this session and a list of past winners. 

ASHG Membership/Business Meeting 

11:45 am – 12:45 pm, Hall D, Lower Level North 

Reports highlighting current Society business will be presented. This is an opportunity 

for members to learn about recent ASHG activities and to provide suggestions to 

leaders. There will be a moment of silence for those members and colleagues we have 

lost in 2012. Discussion from the floor is encouraged. 

Mock Study Section Workshop 


Ron Adkins and Barbara Thomas, from NIH’s Center for Scientific Review, will lead 

the session. Did you ever wonder what really happens in study section meetings and 

how proposals get discussed? In this workshop, attendees will have the opportunity to 

work with NIH staff to learn about the proposal review process, including the typical 

dynamics of study section deliberations. The NIH streamlining process will be demonstrated, 

and the workshop will present examples of mistakes applicants commonly 

make. Tickets are non-refundable. Separate advance registration required and admission 

by advance ticket purchase only. 

SOLD 

OUT 



Galaxy Advanced Users Workshop: Working with 

High-Throughput Data & Data Visualization 


Jennifer Hillman-Jackson, Penn State, and Jeremy Goecks, Emory University, will 

present this advanced level interactive workshop on the Galaxy tools. This workshop 

builds on the Galaxy 101 workshop, and basic knowledge of Galaxy will be helpful. 

Galaxy supports integration of data from multiple sources, including user-uploaded 

data and popular online resources, such as UCSC, BioMart and InterMine as well 

as complex bioinformatics analysis. You will learn to use the free public Galaxy Web 

server (http://usegalaxy.org/) to analyze NGS data, Galaxy’s visual analytics to iteratively 

guide analysis, etc. Tickets are non-refundable. Separate advance registration 

required and admission by advance ticket purchase only. 



Ensembl Browser Interactive Workshop for 



Paul Flicek, Giulietta M. Spudich, and Bert Overduin from the European Bioinformatics 

Institute, will lead an interactive workshop on the Ensembl genomic tools 

(www.ensembl.org), introducing highlights and new ways of integrating information 

in the genome browser and analysis of variation data. Gene regulation tracks based 

on integrated analysis of ENCODE and human epigenome data will be explored and 

the presenters will also provide some pointers on accessing Ensembl through the 

MySQL and Perl APIs. Ensembl provides an infrastructure for genomic information for 

over 60 species, from storage to analysis and visualization. The workshop is tailored 

to intermediate/advanced users. Tickets are non-refundable. Separate advance registration 

required and admission is by advance ticket purchase only. 



An Interactive Play: Drama, Discourse and Genomics: SOLD 

OUT 

From IRBs to IFs 


This interactive session weaves audience participation with the premiere of an 

original new vignette-play that illuminates ethical, psychological, social, legal, and 

policy concerns surrounding the sharing of information generated by next-generation 

sequencing. Between each act of the fictionalized play, audience and actors are engaged 

in discussion, as the vignettes evolve—from an Institutional Review Board (IRB) 

meeting through the informed consent process to the disclosure of incidental findings 

(IFs). The presenters, Lynn Bush and Karen Rothenberg, delve into controversial ethical 

issues and the dramatization is intended to foster a deeper appreciation for potential 

conflicts when disclosing genomic information. Tickets are non-refundable. 

Separate advance registration required and admission by advance ticket purchase only. 

SOLD 

OUT 

SOLD 

OUT



Award for Excellence in Human Genetics Education: Presentation and Lecture 


This award recognizes outstanding contributions to human genetics education. 

Nominees for this award must have made a contribution that is recognized nationally 

or internationally as being of exceptional quality and great importance to human 

genetics education. Dr. Alan Emery, Green Templeton College, University of Oxford, 

will be presented the 2012 Award for Excellence in Human Genetics Education. An 

acceptance lecture is scheduled. See page 116 for a description of this session and 

a list of past winners. 

Victor A. McKusick Leadership Award: Presentation and Lecture 


This award is presented to an individual whose professional achievements have 

fostered and enriched the development of various human genetics disciplines. In 2008 

the Leadership Award was renamed to honor the memory of Victor A. McKusick (1921- 

2008). Dr. Francis Collins, National Institutes of Health, will be presented with the 2012 

Victor A. McKusick Leadership Award. An acceptance speech is scheduled. See page 

117 for a description of this session and a list of past winners. 

C. W. Cotterman Awards Announced 


The C. W. Cotterman Award winners will be announced and presented with certificates. 

Each September, the editorial board of the American Journal of Human Genetics 

selects two articles representing the best papers published in the Journal during the 

previous year by pre- or postdoctoral ASHG trainees. 

Trainee Research Award Winners Announced 


ASHG honors excellence in research conducted by predoctoral and postdoctoral 

trainees, including genetic counseling trainees, through merit-based awards that recognize 

highly competitive abstracts submitted for the Annual Meeting. These awards 

were renamed in 2012 to honor the late Charles Epstein. The six winners of the Charles 

J. Epstein Trainee Awards for Excellence in Genetics Research will be announced. See 

page 63 for a list of the 18 finalists and page 65 for a list of the 60 semifinalists. 

Curt Stern Award: Presentation and Lecture 


This award is presented yearly for outstanding scientific achievements in human 

genetics occurring in the last 10 years. The work may be a single major discovery or 

a series of contributions on a similar or related topic. This award honors the memory 

of Curt Stern (1902-1981) as an outstanding and pioneering human geneticist. Dr. Jay 

Shendure, University of Washington, will be presented the 2012 Curt Stern Award. An 

acceptance lecture is scheduled. See page 119 for a description of this session and 

a list of past winners. 



Closing Symposium - Human Genetics 2012 and Beyond: 

Present Progress and Future Frontiers 


This year’s annual meeting will conclude with a special symposium that will include 

a panel of five outstanding geneticists, Han Brunner, Hal Dietz, Dian Donnai, Lynn Jorde, 

and Jay Shendure. This session will discuss the most exciting advances and upcoming 

challenges in several areas of human genetics. Panelists will answer questions 

from each other and from the audience. Views of the meeting attendees will be followed 

through ASHG’s social media outlets and will be summarized at the opening of the 

session. Attendees are encouraged to post their thoughts on exciting scientific or clinical 

advances they have heard about during the meeting, and on challenges that the 

field will face, by using hashtag #ASHG2012 on Twitter or Facebook page (https:// 

www.facebook.com/GeneticsSociety). 

ASHG 2012 MOBILE APP 

Download the ASHG 2012 Mobile App to your smartphone (iOS, Android, and 

Blackberry platforms). Refer to the ad on page 422. 

The mobile App brings the meeting to your fingertips wherever you go. Once the App 

has been downloaded, you do not need an Internet connection to view information.


ASHG/CHARLES J. EPSTEIN TRAINEE AWARDS FOR 

EXCELLENCE IN HUMAN GENETICS RESEARCH 

ASHG honors excellence in research conducted by predoctoral and postdoctoral 

trainees, including genetic counseling trainees, through merit-based awards that recognize 

highly competitive abstracts submitted for the Annual Meeting. These awards 

were renamed in 2012 to honor the late Dr. Charles Epstein. 

Congratulations to the 60 semifinalists. Semifinalists were selected based on abstract 

score and awarded complimentary registration plus $750 each. Of those semifinalists, 

18 finalists (selected by the Awards Committee) received an additional $250. The 

finalists’ presentations were reviewed by the ASHG Awards Committee and volunteer 

judges during the Annual Meeting. Six winners are chosen to receive an additional 

$1000 each. See below for the list of finalists and semi-finalists. The winners will be 

announced on Saturday, November 10 at the Awards session starting at 8:45 am. 

Members of the Awards Committee are Christopher Pearson, Chair; Goncalo Abecasis, 

Georgia Dunston, Maximilian Muenke, Pragna Patel, Sharon Plon; Mary-Claire King, 

ex officio. 

Name/Presentation Date & Time Session 

Number 

Li, Q. 

Tuesday, 5:50 pm (Plenary) 

Translational cis-regulation of gene ... 

Xifara, D. 

Wednesday, 10:30 am (Platform) 

The detection, structure and uses of ... 

Ordulu, Z. 


Lessons learned from next-gen ... 

Doyle, A. J. 


Heterozygous germline mutations in a ... 

O’Roak, B. J. 


The discovery and validation of genes ... 

Powell, W. T. 


A long, non-coding RNA from the ... 

Kitzman, J. O. 


Noninvasive whole-genome 

sequencing of a ... 

Program 

Number 

Award 

Category 

Room 

02 5 Postdoctoral Hall D 

Lower Level 

North 

12 16 Predoctoral Gateway 

Ballroom 

103 Lower 

Level South 

18 70 Postdoctoral Room 130 

Lower Level 

North 


Lower Level 

North 


Lower Level 

North 

17 64 Predoctoral Room 132 

Lower Level 

North 


Lower Level 

North 

TRAINEE AWARDS


Lee, Y. 

Wednesday, 12:00 noon (Platform) 

Association of genetic variation 

affecting ... 

Delaneau, O. 

Thursday, 11:00 am (Platform) 

Accurate haplotype estimation using 

phase ... 

Menelaou, A. 


An LD-based method for genotype 

calling ... 

Ruark, E. 


BRCA1 and BRCA2 mutational 

spectrum in a ... 

Snyder, M. W. 

Thursday, 12:00 noon (Platform) 

Methods for noninvasive prenatal ... 

Nguyen, K.-D. H. 

Thursday, 12:00 noon (Platform) 

High exome mutational burden in 

58 African ... 

Teslovich, T. M. 

Thursday, 4:30 pm (Platform) 

Whole-exome sequencing of 

10,000 type 2 ... 

Tsetskhladze, Z. 

Friday, 9:15 am (Platform) 

Functional assessment of human 

coding ... 

Segurel, L. 

Friday, 10:00 am (Platform) 

When ancestry runs deep: 

Trans-species ... 

Arboleda, V. 

Friday, 5:15 pm (Platform) 

Domain-specific mutations in 

CDKN1C cause ... 

Wert, K. J. 

Friday, 6:30 pm (Platform) 

Gene therapy provides long-term 

visual ... 


Lower Level 

North 


Lower Level 

North 

29 91 Predoctoral Hall D 

Lower Level 

North 


Lower Level 

North 

29 94 Predoctoral Hall D 

Lower Level 

North 


Lower Level 

North 


Lower Level 

North 


Lower Level 

North 


Lower Level 

North 


Lower Level 

North 


Lower Level 

North

2012 TRAINEE AWARD SEMIFINALISTS 

Arboleda, Valerie, 361 

Buchan, Jillian, 220 

Carter, Calvin, 404 

de Ligt, Joep, 97 

Goldlust, Ian, 66 

Gorkin, David, 258 

Gymrek, Melissa, 333 

He, Zongxiao, 93 

Kitzman, Jacob, 74 

Kuchenbaecker, Karoline, 208 

Kulzer, Jennifer, 304 

Laurino, Mercy, 144 

Lim, Elaine, 11 

Maranville, Joseph, 248 

Menelaou, Androniki, 91 

Bryc, Katarzyna, 178 

Campbell, Catarina, 278 

Chaki, Moumita, 406 

Chu, Audrey, 51 

Chutake, Yogesh, 381 

Delaneau, Olivier, 90 

Doyle, Alexander, 79 

Fairfax, Benjamin, 373 

Girirajan, Santhosh, 14 

Gulsuner, Suleyman, 287 

Hibaoui, Youssef, 67 

Hung, Christina, 297 

Lee, Phil, 352 

Lee, Younghee, 40 

Li, Quan, 5 


Predoctoral 

Michailidou, Kyriaki, 206 

Mullegama, Sureni, 103 

Nguyen, Khanh-Dung, 121 

Oz-Levi, Danit, 53 

Powell, Weston, 64 

Rowsey, Ross, 250 

Ruark, Elise, 138 

Semaka, Alicia, 265 

Sidore, Carlo, 177 

Snyder, Matthew, 94 

Soblet, Julie, 83 

Stimpson, Kaitlin, 69 

Wert, Katherine, 393 

Xifara, Dionysia Kiara, 16 

Yang, Wen-Yun, 180 

Postdoctoral 

Liu, Pengfei, 61 

Lloyd, Deborah, 219 

Meltz Steinberg, Karyn, 375 

Nord, Alex, 407 

O’Roak, Brian, 10 

Ordulu, Zehra, 70 

Pasaniuc, Bogdan, 89 

Sebro, Ronnie, 279 

Seeley, Andrea, 313 

Segurel, Laure, 285 

Smith, Robin, 246 

Teslovich, Tanya, 169 

Tsetskhladze, Zurab, 309 

Tuschl, Karin, 167 

Wilson Sayres, Melissa, 281 

The number next to each name indicates the authors abstract number. 

TRAINEE AWARDS


2012 FASEB MARC TRAVEL AWARDEES 

Each year, the ASHG/FASEB-MARC Program sponsors the Minority Travel Awards 

to help support the participation of faculty/mentors, postdoctoral fellows, and students 

from minority institutions and historically black colleges and universities in the United 

States. Underrepresented minority faculty, students, and postdoctoral fellows from 

majority institutions are also eligible to apply for these travel awards. The MARC travel 

awards provide up to $1,650 in funding for travel-related expenses. 

Elinette Albino-Rodriguez 

Sandra Brown-Ford 

Beatrice Monica Bowen 

Kristine Lacuesta Bucasas 

Calvin Carter 

Monique Courtenay 

Nadeem Fazal 

Michael Gonzalez 

Belen Hernandez 

James Hicks 

Crystal Humphries 

Janina Jeff 

Zura Liaqat 

Nataly Manjarrez-Orduno 

Candace Middlebrooks 

Maria Nieves-Colon 

Alba Pacheco-Torres 

Carmen Ramirez 

Aisha Rauf 

Nicole Restrepo 

Marquitta White

68 INVITED AND PLATFORM SESSIONS 


4:00 PM–4:30 PM 

SESSION 1 – ASHG Presidential Address: The Scientist 

as a Citizen of the World 

Hall D, Lower Level North, Moscone Center 

Presenter: 

Mary-Claire King 

ASHG 2012 President, 

Univ. of Washington 

One of the most fulfilling features of our lives as 

scientists is to act as citizens of the world. We both 

take this citizenship for granted and take its 

responsibilities seriously. In one generation, this role 

has evolved dramatically, as scientists travel far more 

widely and as modern communication tools enable us 

to remain in contact with our colleagues worldwide. In 

my presidential address, I will specify some elements 

of the scientific life that lead naturally to world 

citizenship. Then I will focus in particular on how the 

intellectual structure of human genetics enables us to 

be particularly effective world citizens. I will also 

discuss migration as a force in our lives, as well as in 

human evolution, and will try to define the concept of 

“home” for a scientist. Finally, I will suggest that 

scientific goals are both practical and idealistic, and 

that we should celebrate both. 


4:30 PM–6:30 PM 

SESSION 2 – Plenary Abstract Presentations 


Moderator: Joel N. Hirschhorn, 2012 Program 

Committee Chair Boston Children’s Hosp., 

Harvard Med. Sch. and Broad Inst. 

1/4:30 A novel molecular and functional mechanism 

predisposing to ototoxicity. B. Wollnik, E. Pohl, N. 

Offenhäuser, A. Uzumcu, F. J. Kersten, A. K. 

Rzadzinska, O. Uyguner, B. Lorente, G. Nürnberg, M. 

Emiroglu, H. Kayserili, I. del Castillo, P. Nürnberg, T. 

Moser, C. Kubisch, K. P. Steel, P. P. Di Fiore, H. 

Kremer, Y. Li. 

2/4:50 Genome-wide comparison of genetic and 

epigenetic regulatory mechanisms in primates. Y. 

Gilad, A. Pai, R. Pique-Regi, C. Cain, J. Degner, N. 

Lewellen, K. Michelini, J. Pritchard. 

3/5:10 Multidisciplinary and translational task force 

for neonatal genomics. E. E. Davis, A. Sabo, N. C. 

Oien, S. H. Katsanis, H. Cope, K. Sheets, A. 

Sadeghpour, K. McDonald, M. Kousi, J. R. Willer, J. 

Kim, S. Dugan-Rocha, D. M. Muzny, A. Ashley-Koch, 

E. Hauser, M. Hauser, J. Sun, J. Kurtzberg, A. Murtha, 

B. Boyd, W. B. Gallentine, R. Goldberg, M. T. 

McDonald, R. A. Gibbs, M. Angrist, C. M. Cotten, N. 

Katsanis. 

4/5:30 Genome-wide identification and functional 

analysis of distant-acting craniofacial enhancers. C. 

Attanasio, Y. Zhu, M. J. Blow, A. S. Nord, V. Afzal, B. 

Hallgrimsson, D. FitzPatrick, H. Morrison, E. M. Rubin, 

L. A. Pennacchio, A. Visel. 

5/5:50 Translational cis-regulation of gene 

expression in human genome: The effect of human 

single nucleotide polymorphisms.Q . Li, A. Makri, Y. 

Lu, L. Marchand, R. Grabs, M. Rousseau, H. Ounissi- 

Benkalha1, H. Qu, C. Polychronakos. 

6/6:10 Lessons learned from the NHLBI-Exome 

Sequencing Project. S. M. Leal on behalf of NHLBI 

Exome Sequencing Project. 

The Opening Mixer and Trainee-Mixer-within-a-Mixer 

will follow the plenary session at the Marriott Marquis 

Hotel, Yerba Buena Ballroom. For those interested, 

large screens will display the U.S. election updates 

after the Plenary session has concluded. 

Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.


8:00 AM–10:00 AM 

Concurrent Invited Session I (3-10) 

SESSION 3 – Implementing Next-Generation 



Moderators: Nazneen Aziz, Col. of American 

Pathologists, Lexington, MA; Ira Lubin, Ctr. for Dis. 

Control and Prevent. 

Next-generation sequencing (NGS) is used widely in 

clinical research for the discovery of diseaseassociated 

genes and the clinical community is 

beginning to embrace this technology for diagnostic 

testing. The rapid evolution of NGS technologies 

presents significant opportunities and challenges for 

researchers and clinicians for improving health 

outcomes; particularly with respect to an increased 

emphasis on personalized and preventive medicine. 

Adoption of NGS in the clinical laboratory setting 

requires the adoption of many processes and 

procedures, such as, the analytic and clinical 

validation of the test, CLIA/CAP certification, standards 

for reference materials for proficiency testing, and 

questions regarding reimbursement and informed 

consent. This session will initially review the state of 

NGS in the clinical setting today and what is 

anticipated in the near future. This will be followed by 

consideration for what is practically needed for clinical 

adoption of NGS such as regulatory and professional 

standards, development, availability, and access to 

reference materials, and the laboratory professional’s 

role for ensuring high quality test results that are useful 

for informing clinical decision making. This session will 

be informative and practical for the researcher and 

laboratorians who are considering launching NGS as a 

clinical test. 

8:00 AM Challenges of introducing NGS in the 

clinical laboratory. S. Richards. Oregon Hlth. & Sci. 

Univ. 

8:15 AM Addressing the fundamentals: NGS 

validation and implementation in a clinical setting. 

M. Hegde. Emory Univ. 

8:45 AM Proficiency testing, quality control and 

development of reference material for NGS clinical 

testing. E. Lyon. Univ. of Utah Sch. of Med. 

9:00 AM Development of accreditation standards 

for laboratories offering NGS as a clinical test. 

N. Aziz. Col. of American Pathologists, Lexington, MA. 

9:30 AM Lessons from the clinic—What’s next? H. 

Jacob. Med. Col. of Wisconsin. 

INVITED AND PLATFORM SESSIONS 69 


8:00 AM–10:00 AM 


SESSION 4 – Assessing the Pathogenicity of Genetic 

Variants: Translating in Vitro and in Silico Advances to 

the Clinic 

Gateway Ballroom 103, Lower Level South, Moscone 

Center 

Moderators: Marc S. Greenblatt, Univ. of Vermont; 

Sean V. Tavtigian, Univ. of Utah 

Interpreting which genetic variants are pathogenic and 

which are not remains a critical challenge in the 

genetics of hereditary cancer syndromes and other 

inherited disorders. Genetic testing for disorders such 

as Lynch syndrome (caused by mutations in DNA 

mismatch repair genes) and hereditary breast-ovarian 

cancer (BRCA1, BRCA2 genes) often identifies a 

`Variant of Uncertain Significance’ (VUS). As DNA 

sequencing capacity increases at a furious pace, there 

is an ever greater need to have effective methods to 

analyze these data. There is a consensus in the field of 

genetic testing that proper classification of variants 

requires the integration of multiple types of data. 

Some lines of evidence are familiar to clinicians (e.g., 

segregation of an allele with disease, detailed 

phenotype), and others are less familiar (e.g., in vitro 

protein functional assays, in silico algorithms based on 

gene sequence or protein structure). Ideally, integration 

can be done in a quantitative way, such as Bayesian 

probabilistic analysis, but qualitative data may be used 

if quantitative measurements are not possible. This 

session will 1) explore recent advances in applying 

and integrating statistical, laboratory, and 

computational methods in the classification of 

missense, splice site, and other genetic variants, and 

2) report on international collaborations that are using 

these methods to classify variants in mismatch repair, 

BRCA, and other genes and disseminating validated 

conclusions to the cancer genetics community. 

8:00 AM Innovative in vitro and in vivo assays to 

investigate the function of mismatch repair gene 

variants in Lynch syndrome. N. de Wind. Leiden 

Univ. Med. Ctr., Netherlands. 

8:30 AM Analysis of splicing abnormalities to 

define pathogenic variants in cancer susceptibility 

genes. A. B. Spurdle. Queensland Inst. of Med. Res., 

Australia. 

9:00 AM Integrating in silico with in vitro, 

statistical, and phenotype data to classify missense 

variants: A paradigm that is ready for translation to 

the clinic. S.V. Tavtigian. Univ. of Utah. 

9:20 AM CAGI: The Critical Assessment of 

Genome Interpretation, a community experiment to 

evaluate phenotype prediction. S. E. Brenner. Univ. 

of California, Berkeley. 

9:40 AM International collaborations to establish 

standards for classifying genetic variants and to 

disseminate results. M. S. Greenblatt. Univ. of 

Vermont. 

Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation. 

INVITED AND PLATFORM SESSIONS



8:00 AM–10:00 AM 


SESSION 5 – Gene Regulatory Change: The Engine of 

Human Evolution? 

Room 135, Lower Level North, Moscone Center 

Moderators: James P. Noonan, Yale Univ. Sch. of 

Med.; Nadav Ahituv, UCSF 

What makes us human? Classic human traits, such as 

language and sophisticated tool use, are the result of 

physical changes during human evolution, including 

increased brain complexity and altered limb 

morphology. This session will focus on efforts to 

identify evolutionary changes in gene regulation that 

produced uniquely human phenotypes. Speakers will 

describe novel approaches that are empowering 

research in this emerging field, and the insights that 

are being gained. Topics to be discussed include: 1) 

Computational identification of putative gene 

regulatory elements that changed extensively during 

human evolution; 2) The role of repetitive elements in 

generating novel regulatory functions; 3) Humanspecific 

loss of developmental regulatory elements; 

4) New methods to link phenotypic and genotypic 

variation across closely related species, and the 

implications for understanding human-specific 

biology and disease; and 5) Identifying humanspecific 

developmental regulatory changes by 

direct comparisons of enhancer function and gene 

expression in embryonic human and nonhuman 

primate tissues using functional genomics. The 

session will illustrate how the synthesis of diverse 

computational and experimental approaches is 

beginning to reveal the genetic basis of unique human 

biology. 

8:00 AM Chromatin profiling of human embryonic 

tissues identifies regulatory elements with humanspecific 

developmental functions. J. P. Noonan. Yale 

Univ. Sch. of Med. 

8:25 AM Many human accelerated regions are 

developmental enhancers. K. S. Pollard. UCSF. 

8:50 AM Linking human and mammalian 

genotypes to phenotype. G. Bejerano. Stanford Univ. 

9:15 AM The role of repetitive elements in driving 

human and mammalian genome regulation. D. 

Odom. Cancer Research UK, Cambridge, U.K. 

9:40 AM Evidence of regulatory turnover in the 

human lineage revealed by comparing mammalian 

constraint, human diversity, and biochemical 

activity. M. Kellis. MIT. 


8:00 AM–10:00 AM 


SESSION 6 – Insights into Human Demography and 

Selection from Full Genome Sequencing 


Moderators: Jeffrey M. Kidd, Univ. of Michigan; Carlos 

D. Bustamante, Stanford Univ. 

Next-generation sequencing allows geneticists to 

directly test the extent and pattern of natural selection 

in the human genome. These new genomic data 

address previous concerns of ascertainment bias and 

accurate identification of causal alleles. Recently, 

population geneticists have proposed multiple, strong 

positive sweeps related to diet and immune defense, 

pervasive negative selection in and nearby genes, and 

adaptation by allele frequency shifts from standing 

variation. The proportion of the human genome 

attributable to these different patterns is currently 

under intense debate. Furthermore, selection is 

operating on the background of complex human 

demography, such as long-range continental 

migrations and population-specific bottlenecks. This 

symposium aims to provide diverse viewpoints on the 

different modes of selection operating on the human 

genome and a discussion of how demographic 

processes may have constrained evolution in both 

recent and ancient human history. 

8:00 AM The effect of out-of-Africa migrations on 

the distribution of deleterious alleles in diverse 

human genomes. B. M. Henn. Stanford Univ. 

8:30 AM Genetic adaptations to new 

environments in humans. A. Di Rienzo. Univ. of 

Chicago. 

9:00 AM Insights into selective sweeps and 

diversity from thousands of sequenced genomes. 

R. Hernandez. UCSF. 

9:30 AM A genomic view of the demographic and 

adaptive history of African pygmies. L. Quintana- 

Murci. Inst. Pasteur, Paris, France. 



8:00 AM–10:00 AM 


SESSION 7 – Age-Related Macular Degeneration– 

GWAS and Beyond: Guiding Light for the Complex 

Neurodegenerative Diseases 


Center 

Moderators: Anand Swaroop, NEI/NIH; Hemin Chin, 

NEI/NIH 

AMD is a complex multi-factorial neurodegenerative 

disease that is a major cause of visual impairment in 

the elderly. Genetic linkage and genome-wide 

association studies (GWAS) have been immensely 

successful in identifying genetic susceptibility loci in 

AMD and in providing insights into cellular pathways 

underlying pathogenesis of the disease. Numerous 

groups worldwide have validated the strong 

association of variants at CFH and ARMS2/HTRA1 loci 

with AMD risk, and genome-wide association studies 

have suggested the involvement of complement, 

extracellular matrix, angiogenesis and HDL cholesterol 

pathways. This session will discuss the current 

progress to carry out comprehensive genetic analyses 

of AMD, highlighting experimental approaches that 

may be applicable to other complex traits and 

multigenic diseases. The speakers in this session will 

provide the current status of meta-analysis of AMD- 

GWAS, targeted resequencing, and whole exome 

sequencing efforts to discover or search for rare 

causal variants and functional pathways, and 

diagnostic/therapeutic implications of genetic variants. 

Additionally, we will discuss the relevance of AMD 

genetics for other complex neurodegenerative 

diseases and the future of genetic studies. 

8:00 AM The bigger the better: Searching for 

novel loci for age-related macular degeneration in 

a large consortium effort. I. Heid. Regensburg Univ. 

Med. Ctr., Germany. 

8:30 AM From genetic association to causal 

alleles by resequencing and exome arrays: The 

stage after GWAS. G. Abecasis. Univ. of Michigan. 

9:00 AM An integrated hypothesis of the 

development and progression of age-related 

macular degeneration based upon available genetic 

and biological data. G. S. Hageman. Univ. of Utah. 

9:30 AM An updated recipe for Mendel’s pea 

soup. M. A. Pericak-Vance. Univ. of Miami Miller Sch. 

of Med. 



8:00 AM–10:00 AM 


SESSION 8 – “Yes Virginia, Family Studies Really Are 

Useful for Complex Traits in the Next-Generation 

Sequencing Era” (session in honor of Dr. Robert 

Elston’s contributions to human genetics in the year 

of his 80th birthday) 


Moderators: Michael A. Province, Washington Univ. in 

St. Louis; Francoise Clerget-Darpoux, INSERM U781, 

Univ. Paris V, France. 

The pros and cons of family designs as NGS targets in 

dissecting complex traits are presented. In the linkage 

era, family studies were ubiquitous, but they were 

largely neglected in the GWAS era, which 

concentrated mostly on unrelated subjects. But as 

attention now moves from the common to the rare 

variants that can only be completely interrogated 

through sequencing, it is useful to at least consider 

whether the designs that were optimal for GWAS 

remain so for NGS studies. Pedigrees seem to have at 

least some advantages over studies of unrelateds for 

studying rare variation. First, it may be easier to 

distinguish true rare variant calls from sequence errors 

in family designs than it is in unrelated cohorts, since 

there is the added dimension of pedigree consistency 

information, especially for low coverage. Second, a 

key statistical challenge to analyzing the phenotype/ 

genotype correlation with rare variants, is finding 

enough copies of any one variant allele with which to 

make inferences (hence the various collapsing or 

burden tests, which combine multiple nearby rare 

variants into a single test). For any given very rare 

allele, sampling additional unrelateds is an inefficient 

strategy to find more copies of that allele, whereas 

family members of allele carriers are much more likely 

to be allele carriers themselves. On the other hand, a 

disadvantage of family designs is that there is a 

smaller diversity of founder mutations, so less of the 

overall population of alleles is measured per individual. 

This session emphasizes the results of real sequencing 

studies in pedigrees as well as simulation results to 

delineate the areas in which family designs offer 

advantages and where they offer disadvantages over 

sequencing unrelated subjects, such as case-control 

designs. 

8:00 AM Whole genome sequencing in large 

pedigrees for the identification of human QTLs. J. 

Blangero. Texas Biomed. Res. Inst., Austin. 

8:30 AM Linkage and association information 

should be considered as complementary and not 

redundant. F. Clerget-Darpoux. INSERM U781, Univ. 

Paris V, France. 

9:00 AM Power to find rare causal variants in 

pedigrees. M. A. Province. Washington Univ. in St. 

Louis. 

9:30 AM Whither human genetics? R. C. Elston. 

Case Western Reserve Univ. 

Taking Photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation. 




8:00 AM–10:00 AM 


SESSION 9 – Surveying Customer Responses to 



Moderator: J. Scott Roberts, Univ. of Michigan 

This session will feature presentation of empirical data 

on the responses of personal genome testing 

consumers to their individual genomic information. Dr. 

David Kaufman of Johns Hopkins University will 

discuss publicly available interpretations of individual 

whole genome sequence data in light of his Center’s 

prior work on direct-to-consumer (DTC) testing and 

return of individual genetic research results. Dr. 

Cinnamon Bloss of the Scripps Genomic Health 

Initiative (SGHI) will present new long-term follow-up 

data from the SGHI, including data related to DTC 

pharmacogenomic testing and genetic ancestry 

testing. Dr. Sandra Lee of Stanford University will 

describe an anthropological study of how the public 

integrates information on population genetic variation 

in their interpretation of individualized genetic risk 

information for disease and drug response. The 

session will conclude with a panel discussion 

moderated by Dr. Scott Roberts of the University of 

Michigan, joint PI (with Dr. Robert Green at Brigham 

and Women’s Hospital) of the Impact of Personal 

Genomics (PGen) Study. The PGen Study is a 

longitudinal survey study examining consumers’ 

response to personal genome testing, including their 

motivations and expectations, risk perceptions, health 

behaviors and intentions. Two personal genomics 

companies, 23andMe and Pathway Genomics, are 

collaborators on the PGen Study, and the closing 

panel will feature a discussion that includes company 

representatives Dr. Joanna Mountain and Dr. Tanya 

Moreno. In this discussion, panelists and audience 

members will share their perspectives on the potential 

benefits and risks involved in research partnerships 

between academicians and personal genomics 

companies. 

8:00 AM Interpretomics: Using studies of DTC 

testing and the return of research results to shape 

the interpretation of personal whole genomic 

sequence data. D. Kaufman. Genet. and Publ. Policy 

Ctr., Johns Hopkins Univ. 

8:30 AM Impact of DTC genomic testing at longterm 

follow-up. C. S. Bloss. Scripps Translational Sci. 

Inst. and Scripps Hlth. 

9:00 AM Rendering population differences 

meaningful: A study of consumer interpretation of 

genetic diversity. S. S-J. Lee. Stanford Univ. Med. 

Sch. 

9:30 AM The role of personal genomic testing 

companies in research: A panel discussion 

featuring industry and academic perspectives. 

Panelists: J. Mountain 1 , T. Moreno 2 , J. S. Roberts 3 . 

1) 23andMe Inc., Mountain View, CA; 2) Genomics 

Corp., San Diego; 3) Univ. of Michigan. 


8:00 AM–10:00 AM 


SESSION 10 – Metabolism, Metals, and 

Neurodegeneration: Toward Enhanced Understanding 

of Disease Mechanisms and Rational Therapeutics 


Moderators: Stephen G. Kaler, NICHD/NIH; Susan J. 

Hayflick, Oregon Hlth. & Sci. Univ. 

This session will focus on the expanding knowledge 

concerning the influence of inborn errors of 

metabolism and disorders of trace metal homeostasis 

on neurodegeneration. Increasing numbers of clinical 

phenotypes and molecular defects are now associated 

with disordered metabolism in the central and 

peripheral nervous systems. These include Alzheimer 

and Parkinson diseases, Menkes and Wilson diseases, 

ATP7A-related distal motor neuropathy, acetyl CoA 

transporter 1-related hypocupremia, pantothenate 

kinase-associated neurodegeneration, infantile 

neuroaxonal dystrophy, dystonia-parkinsonism, 

Friedreich ataxia, hemochromatosis, and iron sulfur 

cluster scaffold myopathy. Expert speakers will discuss 

and review translational research advances relevant to 

these conditions, as well as emerging data on disease 

mechanisms, pathophysiology, and potential novel 

remedies. 

8:00 AM Alzheimer disease and the metal 

hypothesis. R. E. Tanzi. Massachusetts Gen. Hosp. 

8:30 AM Neurodegeneration with brain iron 

accumulation. S. J. Hayflick. Oregon Hlth. & Sci. Univ. 

9:00 AM Friedreich ataxia and diseases of iron 

sulfur cluster assembly. T. A. Rouault. NICHD/NIH. 

9:20 AM Neurodegeneration and disorders of 

copper transport. S. G. Kaler. NICHD/NIH. 

9:40 AM Exploring the link between 

glucocerebrosidase mutations and Parkinson 

disease. E. Sidransky. NHGRI/NIH. 



10:30 AM–12:45 PM 


Session A (11-19) 

SESSION 11 – Genetics of Autism Spectrum Disorders 


Moderators: Fuki M. Hisama, Univ. of Washington; Dan 

E. Arking, Johns Hopkins Sch. of Med. 

7/10:30 Genetic epidemiology of autism spectrum 

disorder in a cohort of over 11,000 affected 

sibships and half-sibships: Evidence of genetic and 

maternal environmental effects. N. Risch, T. J. 

Hoffmann, M. Anderson, L. A. Croen, J. Grether, G. 

Windham. 

8/10:45 Identifying inherited autism mutations using 

whole exome sequencing. T. W. Yu, M. H. Chahrour, 

M. E. Coulter, S. Jiralerspong, K. Okamura-Ikeda, K. 

Schmitz-Abe, G. H. Mochida, J. N. Partlow, R. S. Hill, 

M. Al-Saffar, N. M. Mukaddes, A. Hashmi, S. Balkhy, 

G. G. Gascon, O. Oner, S. Al-Saad, T. Ben-Omran, L. 

Al-Gazali, V. Eapen, C. Stevens, S. Gabriel, K. 

Markianos, H. Taniguchi, N. E. Braverman, E. M. 

Morrow, C. A. Walsh. 

9/11:00 Identical by descent filtering in extended 

families reveals novel autism genes detected by 

exome sequencing. H. N. Cukier, N. D. Dueker, S. H. 

Slifer, J. M. Lee, P. L. Whitehead, E. Lalanne, N. Leyva, 

I. Konidari, R. C. Gentry, W. F. Hulme, D. Van Booven, 

D. J. Hedges, V. Mayo, S. S. Ramsook, B. A. 

Barrionuevo, J. M. Jaworski, M. A. Schmidt, J. L. 

Haines, M. L. Cuccaro, J. R. Gilbert, M. A. Pericak- 

Vance. 

10/11:15 The discovery and validation of genes 

recurrently disrupted in autism spectrum disorders. 

B. J. O’Roak, L. Vives, A. Kumar, I. B. Stanaway, J. 

Egertson, E. Turner, C. Lee, G. L. Carvil, I. G. Phelps, 

D. R. O’Day, W. Fu, J. Hiatt, B. Martin, N. Krumm, B. 

P. Coe, R. Levy, E. Borenstein, D. A. Nickerson, H. C. 

Mefford, D. Doherty, J. M. Akey, R. Bernier, E. E. 

Eichler, J. A. Shendure. 

11/11:30 Rare complete human knockouts: 

Population distribution and significant role in 

autism spectrum disorders. E. T. Lim, M. J. Daly, 

ARRA Autism Sequencing Consortium. 

12/11:45 Exome-based discovery of CNVs in 

simplex autism families. N. Krumm, B. Nelson, S. 

Girirajan, M. Dennis, C. Baker, M. Malig, NHLBI Exome 

Sequencing Project, A. Quinlan, D. A. Nickerson, E. E. 

Eichler. 

13/12:00 Delta catenin (CTNND2): Genetics and 

function of a novel autism gene.T . Turner, E. Oh, Y. 

Liu, M. X. Sosa, S. Sanders, K. Sharma, D. Moreno- 

De-Luca, T. Plona, K. Pike, D. Soppet, M. W. Smith, 

M. State, S. W. Cheung, C. Lese Martin, R. Huganir, E. 

Cook, N. Katsanis, A. Chakravarti. 


14/12:15 Novel hotspots of recurrent copy number 

variation associated with autism spectrum disorder. 

S. Girirajan, M. Y. Dennis, C. Baker, M. M. Malig, B. P. 

Coe, C. D. Campbell, K. Mark, T. Vu, C. Alkan, Z. 

Cheng, R. Bernier, E. E. Eichler. 

15/12:30 Cluster analysis defines subgroups of 

phenotypic expression for autism spectrum 

disorders. O. J. Veatch, B. Yaspan, N. Schnetz- 

Boutaud, M. A. Pericak-Vance, J. L. Haines. 





10:30 AM–12:45 PM 



SESSION 12 – New Methods for Big Data 


Center 

Moderators: Elizabeth Marchani, Univ. of Washington; 

Rita Cantor-Chiu, UCLA Sch. of Med. 

16/10:30 The detection, structure and uses of 

haplotype identity in population genetic data. 

D. Xifara, I. Mathieson, G. McVean. 

17/10:45 Inferring and sequencing the founding 

bottleneck of Ashkenazim. I. Pe’er, S. Carmi, S. 

Mukherjee, N. Parlamee, M. Bowen, K. Hui, V. Joseph, 

P. F. Palamara, L. Ozelius, I. Peter, A. Darvasi, K. Offit, 

H. Ostrer, J. Cho, L. Clark, G. Atzmon, T. Lencz, 

Ashkenazi Genome Consortium. 

18/11:00 Statistical methods for association test of 

rare variants using summarized data without 

individual-subject information. Q. Zhang, I. Borecki, 

M. A. Province. 

19/11:15 Testing for rare variant associations in the 

presence of missing data. P. Livermore Auer, S. Leal, 

G. Wang, NHLBI Exome Sequencing Project. 

20/11:30 Quantitative trait locus analysis for nextgeneration 

sequencing with the functional linear 

models. M. Xiong, L. Luo, Y. Zhu. 

21/11:45 A rapid and powerful method for proteinprotein 

interaction- and pathway-based association 

analysis in genome-wide association studies. M. Li, 

S. Kwan, H. Gui, P. Sham. 

22/12:00 Statistics for X-chromosome association. 

U. Ozbek, D. E. Weeks, W. Chen, J. Shaffer, S. M. 

Purcell, E. Feingold. 

23/12:15 Joint association analysis of pleiotropy 

SNPs using GWAS summary statistics. R. M. Salem, 

J. N. Hirschhorn. 

24/12:30 Multivariate regression-based analysis of 

relative abundance data in metagenomics. 

O. Libiger, N. J. Schork. 


10:30 AM–12:45 PM 



SESSION 13 – Cancer Genetics I: Rare Variants 


Moderators: Ellen L. Goode, Mayo Clin. Col. of Med.; 

John D. McPherson, Ontario Inst. for Cancer Res., 

Canada 

25/10:30 Exome sequencing of more than 6,700 

samples and the study of genetic susceptibility to 

common cancer. A. Kiezun, A. McKenna, G. Kryukov, 

G. Getz. 

26/10:45 Exome sequencing of families severely 

affected with breast cancer suggests eight new 

candidate genes: ATR, BAP1, CHEK1, GEN1, 

KANK4, OBSL1, RAD51B and TP53BP1. C. H. 

Spurrell, A. M. Thornton, M. K. Lee, S. Casadei, S. Ng, 

T. Walsh, J. Shendure, M. C. King. 

27/11:00 Rare variants in XRCC2 as breast cancer 

susceptibility alleles. F. S. Hilbers, M. C. Völker- 

Albert, W. W. Wiegant, M. P. G. Vreeswijk, N. 

Hoogerbrugge, J. C. Oosterwijk, J. M. Collee, M. C. 

Southey, P. Peterlongo, P. Radice, F. J. Couch, K. Offit, 

I. G. Campbell, J. Benitez, C. J. van Asperen, H. van 

Attikum, P. Devilee. 

28/11:15 HOXB13 is a susceptibility gene for 

prostate cancer: Results from the International 

Consortium for Prostate Cancer Genetics. K. 

Cooney, W. Isaacs, J. Xu, E. Lange, L. Lu, S. Zheng, 

Z. Wong, L. Cannon-Albright, J. Stanford, E. A. 

Ostrander, C. Maier, J. Schleutker, D. Schaid, S. 

Thibodeau, G. Cancel-Tassin, F. Wiklund, R. Eeles, 

D. Easton, A. Wittemore, G. Giles, W. Catalona, D. 

Mandal, W. Foulkes, J. Carpten, D. Seminara on behalf 

of International Consortium for Prostate Cancer 

Genetics. 

29/11:30 Parkinson disease and melanoma: 

A common genetic pathway linked to PARKIN 

inactivation. H. Hu, N. Dumaz, S. Lesage, L. Michel, 

V. Descamps, S. Mourah, C. Lebbé, N. Basset-Seguin, 

M. Bagot, A. Bensussan, L. Deschamps, M.-T. Leccia, 

A. Tsalamlal, P. Sivaramakrishna Rachakonda, S. 

Klebe, K. Rajive, C. Kannengiesser, A. Couvelard, B. 

Grandchamp, L. Thomas, A. Brice, N. Soufir. 

30/11:45 Exome sequencing in families at high risk 

for lymphoid malignancies. L. R. Goldin, M. L. 

McMaster, M. Rotunno, K. B. Jacobs, L. Burdette, M. 

Malasky, A. Hutchinson, M. Cullen, J. Boland, M. 

Yeager, M. A. Tucker, S. J. Chanock, N. E. Caporaso. 

31/12:00 Rare allelic forms of PRDM9 associated 

with childhood leukemia. J. Hussin, D. Sinnett, F. 

Casals, Y. Idaghdour, V. Bruat, V. Saillour, J.-C. Grenier, 

J. Healy, T. de Malliard, J.-F. Spinella, M. Lariviere, S. 

Busche, G. Gibson, A. Andersson, L. Holmfeldt, J. Ma, 

L. Wei, J. Zhang, G. Andelfinger, J. R. Downing, C. M. 

Mullighan, P. Awadalla. 



10:30 AM–12:45 PM 


Session A (11-19) (SESSION 13, continued) 

32/12:15 De novo mutation of the TGF beta family 

in early-onset ovarian cancer. I. Tournier, F. 

Charbonnier, S. Coutant, K. Walton, R. Marlin, M. 

Vezain, J. Tinat, E. Angot, R. Sesboué, J.-C. Sabourin, 

D. Vaur, C. Harrison, T. Frebourg. 

33/12:30 Somatic activating mutations in PIK3CA 

cause progressive segmental overgrowth. M. J. 

Lindhurst, V. E. R. Parker, F. Payne, J. C. Sapp, S. 

Rudge, J. Harris, A. M. Witkowski, Q. Zhang, M. P. 

Groeneveld, C. E. Scott, A. Daly, S. M. Huson, L. L. 

Tosi, M. L. Cunningham, T. N. Darling, J. Geer, Z. 

Gucev, P. A. Kreiger, V. R. Sutton, M. M. Thacker, C. 

Tziotzios, A. K. Dixon, T. Helliwell, S. O’Rahilly, D. B. 

Savage, M. J. O. Wakelam, R. K. Semple, I. Barroso, 

L. G. Biesecker. 



10:30 AM–12:45 PM 



SESSION 14 – Quantitation and Measurement of 

Regulatory Oversight by the Cell 


Moderators: Richard M. Myers, HudsonAlpha Inst. for 

Biotechnol., Huntsville, AL; Jeffrey C. Barrett, 

Wellcome Trust Sanger Inst., U.K. 

34/10:30 ChipEnrich: Gene set enrichment testing 

for ChIP-seq data. R. P. Welch, C. Lee, L. J. Scott, R. 

A. Smith, P. Imbriano, M. A. Sartor. 

35/10:45 Enhanced exome sequencing to capture 

genome-wide common variants. I. C. R. M. Kolder, 

K. I. Morley, E. Birney, I. Dunham, J. C. Barrett. 

36/11:00 Complete HIV-1 genomes from 

sequencing single molecules: Simple and complex 

samples. M. P. S. Brown, M. Schaefer, Y. Gao, W. 

Kilembe, S. Allen, E. Hunter, E. E. Paxinos. 

37/11:15 DeTCT pipeline: A software pipeline for 

the analysis of transcript count data. J. A. Morris, J. 

E. Collins, I. Sealy, N. Wali, E. Busch-Netwich, R. 

White, D. L. Stemple, J. C. Barrett. 

38/11:30 Fast genome-wide QTL association 

mapping with pedigrees. H. Zhou, E. M. Sobel, K. 

Lange. 

39/11:45 Discovering SNPs regulating human gene 

expression using allele specific expression from 

RNA-seq data. E. Eskin, E. Kang, B. Han, A. J. Lusis, 

L. Martin, S. Shiffman. 

40/12:00 Association of genetic variation affecting 

exon skipping to disease susceptibility. Y. Lee, H. 

Im, W. Hernandez, N. J. Cox. 

41/12:15 Haplotype-based variant detection and 

interpretation enables the population-scale analysis 

of multi-nucleotide sequence variants. E. Garrison, 

J. A. Rosenfeld, D. MacArthur, Y. Xue, Z. Iqbal, S. 

Balasubramanian, L. Habegger, R. Poplin, M. A. 

DePristo, G. Marth, M. B. Gerstein, C. Tyler-Smith, 

1000 Genomes Project. 

42/12:30 eQTL analysis identifies novel associations 

between genotype and gene expression in the 

human intestine. B. Kabakchiev, NIDDK IBD Genetics 

Consortium, M. S. Silverberg. 





10:30 AM–12:45 PM 



SESSION 15 – New Loci for Obesity, Diabetes, and 

Related Traits 


Center 

Moderators: Jose Florez, Massachusetts Gen. Hosp.; 

Richa Saxena, Massachusetts Gen. Hosp. 

43/10:30 A genome-wide association analysis of 

early-onset severe obesity: The SCOOP project. 

E. Wheeler, N. Huang, E. Bochukova, S. Lindsay, J. 

Keogh, R. J. F. Loos, N. J. Wareham, S. O’Rahilly, M. 

Hurles, I. Barroso, I. S. Farooqi. 

44/10:45 Mapping obesity traits using an integrated 

`omics’ approach in adipose tissue from female 

twins. A. K. Hedman, J. K. Sandling, E. Grundberg, K. 

S. Small, E. Meduri, S. Keildson, A. Nica, A. Buil, J. T. 

Bell, J. Nisbet, M. Sekowska, A. Wilk, A. Barrett, N. 

Hassanali, T.-P. Yang, D. Glass, S.-Y. Shin, L. Parts, N. 

Soranzo, R. Durbin, K. Ahmadi, K. T. Zondervan, C. M. 

Lindgren, T. D. Spector, E. T. Dermitzakis, M. I. 

McCarthy, P. Deloukas for MuTHER Consortium. 

45/11:00 Whole exome sequencing identifies 

candidate causal genes for severe insulin 

resistance. F. Payne, A. Daly, W. Bottomley, E. Raffan, 

E. Goncalves Serra, A. Thompson, D. B. Savage, R. K. 

Semple, S. O’Rahilly, I. Barroso, UK10K Consortium. 

46/11:15 Exome analysis in 8,232 Finnish men 

identifies novel loci and low-frequency variants for 

insulin processing and secretion. J. R. Huyghe, A. 

U. Jackson, M. P. Fogarty, A. Stanáková, H. M. 

Stringham, M. L. Buchkovich, C. Fuchsberger, J. 

Paananen, P. S. Chines, T. M. Teslovich, J. M. Romm, 

H. Ling, I. McMullen, R. Ingersoll, E. W. Pugh, K. F. 

Doheny, J. Kuusisto, L. J. Scott, F. S. Collins, G. R. 

Abecasis, R. M. Watanabe, M. Boehnke, M. Laakso, K. 

L. Mohlke. 

47/11:30 Global genomic and transcriptomic 

variation in human pancreatic islets reveals novel 

loci associated with type 2 diabetes and related 

traits. J. Fadista, P. Vikman, I. Mollet, E. O. Laakso, U. 

Krus, O. Hansson, L. Groop. 

48/11:45 Identification of a novel genome-wide 

significant association with type 2 diabetes risk in 

Mexicans and Mexican Americans. A. L. Williams, H. 

García-Ortiz, M. J. Gómez-Vázquez, C. A. Haiman, A. 

Huerta-Chagoya, A. K. Manning, C. Márquez-Luna, H. 

Moreno-Macías for SIGMA Type 2 Diabetes 

Consortium. 

49/12:00 Discovery and fine-mapping of type 2 

diabetes susceptibility loci through trans-ethnic 

meta-analysis. A. Mahajan, J. E. Below, W. Zhang, M. 

J. Go, E. Parra, A. P. Morris, AGEN-T2D, DIAGRAM, 

MA-T2D and SA-T2D Consortia. 

50/12:15 TCF7L2 genetic variation is associated 

with impaired incretin effect and lower glucagon. B. 

Chamarthi, K. R. Littleton, V. Kaur, L. Chen, A. K. 

Manning, M. K. Thomas, M. S. Hudson, J. C. Florez. 

51/12:30 Novel locus including FGF21 is associated 

with dietary macronutrient intake. A. Y. Chu, T. 

Workalemahu, N. P. Paynter, L. M. Rose, F. Giulianini, 

CHARGE Nutrition Working Group, Q. Qi, G. C. 

Curhan, E. B. Rimm, D. J. Hunter, L. R. Pasquale, P. 

M. Ridker, F. B. Hu, D. I. Chasman, L. Qi on behalf of 

DietGen Consortium. 



10:30 AM–12:45 PM 



SESSION 16 – Neuromuscular Disease and Deafness 


Moderators: Anthony Antonellis, Univ. of Michigan; 

Thomas Glover, Univ. of Michigan 

52/10:30 The TRK-fused gene is mutated in 

hereditary motor and sensory neuropathy with 

proximal dominant involvement (HMSN-P). H. 

Ishiura, W. Sako, M. Yoshida, T. Kawarai, O. Tanabe, J. 

Goto, Y. Takahashi, H. Date, J. Mitsui, B. Ahsan, Y. 

Ichikawa, A. Iwata, H. Yoshino, Y. Izumi, K. Fujita, K. 

Maeda, S. Goto, H. Koizumi, R. Morigaki, M. Ikemura, 

N. Yamauchi, S. Murayama, G. Nicholson, H. Ito, G. 

Sobue, M. Nakagawa, R. Kaji, S. Tsuji. 

53/10:45 Mutation in the autophagy-related 

TECPR2 gene causes hereditary spastic 

paraparesis. D. Oz-Levi, B. Ben-Zeev, E. Ruzzo, Y. 

Hitomi, A. Gelman, K. Pelak, Y. Anikster, H. Reznik- 

Wolf, I. Bar-Joseph, T. Olender, A. Alkelai, M. Weiss, E. 

Ben-Asher, D. Ge, K. Shianna, Z. Elazar, D. Goldstein, 

E. Pras, D. Lancet. 

54/11:00 Spinal muscular atrophy associated with 

progressive myoclonic epilepsy is caused by 

mutations in ASAH1. J. Melki, J. Zhou, M. Tawk, F. D. 

Tiziano, J. Veillet, M. Bayés, F. Nolent, V. Garcia, S. 

Servidei, E. Bertini, F. Castro-Giner, Y. Renda, S. 

Carpentier, N. Andrieu-Abadie, I. Gut, T. Levade, H. 

Topaloglu. 

55/11:15 Genetic variants in chromatin modifying 

genes cause D4Z4 hypomethylation, DUX4 

expression, and contraction-independent 

facioscapulohumeral muscular dystrophy (FSHD2). 

D. G. Miller, R. J. L. F. Lemmers, L. M. Petek, J. Balog, 

P. J. van der Vliet, G. J. Block, J. W. Lim, G. N. 

Filippova, A. M. Amell, G. W. E. Santen, B. Bakker, M. 

J. Bamshad, S. J. Tapscott, R. Tawil, S. M. van der 

Maarel. 

56/11:30 Unexpected extension of the phenotype 

spectrum associated with SMAD3 mutations in 

aneurysms-osteoarthritis syndrome. M. Aubart, D. 

Gobert, N. Hanna, C. Muti, J. Roume, V. Cusin, B. 

Grandchamp, L. Gouya, D. Detains, G. Jondeau, C. 

Boileau. 

57/11:45 Whole-exome sequencing for autosomal 

recessive non-syndromic deafness: 93% of known 

genes covered and OTOGL and SLITRK6 are novel 

genes. M . Tekin, O. Diaz-Horta, D. Duman, J. Foster II, 

A. Sirmaci, M. Gonzalez, N. Mahdieh, M. Bonyadi, F. 

B. Cengiz, R. Ulloa, S. Zuchner, S. Blanton. 

58/12:00 Whole exome sequencing and more to 

unravel the genetics and genotype-phenotype 

correlations for deafness. H. Kremer, M. Schraders, 

C. Zazo Seco, J. Oostrik, I. Feenstra, A. M. M. Oonk, 

E. van Beelen, M. van Bers, K. Neveling, J. A. Veltman, 

R. J. C. Admiraal, H. P. M. Kunst, R. J. E. Pennings, E. 

H. Hoefsloot. 


59/12:15 A mutation in Ca2+ binding protein 2, 

expressed in cochlear inner hair cells, causes 

autosomal recessive hearing impairment. 

I . Schrauwen, S. Helfmann, A. Inagaki, F. Wolk, 

M. A. Tabatabaiefar, M. M. Picher, M. Sommen, 

C. Zazo Seco, H. Kremer, A. Dheedene, C. Claes, 

E. Fransen, M. A. Chaleshtori, P. Coucke, A. Lee, 

T. Moser, G. Van Camp. 

60/12:30 Comprehensive diagnosis for hearing loss 

using personal genomics: The first 100 cases. 

E . Shearer, E. A. Black-Ziegelbein, M. S. Hildebrand, 

A. P. DeLuca, R. W. Eppsteiner, S. E. Scherer, 

T. E. Scheetz, T. L. Casavant, R. J. H. Smith. 





10:30 AM–12:45 PM 



SESSION 17 – Chromosomes and Disease 


Moderators: Christa Lese Martin, Emory Univ.; Blake 

Ballif, Signature Genomics, Spokane, WA 

61/10:30 Characterization of de novo copy-number 

variations in two subjects with a constitutional 

“CNV mutator” phenotype. P. Liu, K. Walter, K. Writzl, 

V. Gelowani, S. Lindsay, C. M. B. Carvalho, M. 

Withers, J. Wiszniewska, A. Patel, B. Rautenstrauss, 

M. Hurles, J. R. Lupski. 

62/10:45 Associations between gene expression 

and phenotypes in 16p11.2 rearrangements. 

E. Migliavacca, K. Mannik, F. Zufferey, N. D. Beckmann, 

L. Harewood, A. Mace, Z. Kutalik, L. Hippolyte, A. 

Maillard, V. Siffredi, R. M. Witwicki, G. Didelot, S. 

Jacquemont, S. Bergmann, J. S. Beckmann, 16p11.2 

European Consortium Collaborators. 

63/11:00 De novo triplication can arise from a 

duplication of the 17p12 region and confers a 

severe Charcot-Marie-Tooth, type 1A phenotype. 

V. Gelowani, P. Liu, F. Zhang, S. B. Shachar, S. D. 

Batish, E. Roney, V. Drory, A. Orr-Urtreger, J. R. Lupski. 

64/11:15 A long, non-coding RNA from the Prader- 

Willi critical region forms a subnuclear cloud and 

recruits transcriptional activating complexes to the 

SNORD 116 locus in postnatal neurons. W . T. 

Powell, R. Coulson, F. Crary, S. Wong, D. H. Yasui, 

J. M. LaSalle. 

65/11:30 Molecular analysis of patients whose 

clinical features overlap the 22q11.2 deletion 

syndrome. S. Saitta, T. Busse, D. McDonald-McGinn, 

E. Zackai, S. Woyciechowski, J. Garbarini, E. 

Goldmuntz, C. Van Ravenswaaij, L. Hoefsloot, B. 

Emanuel, D. Driscoll. 

66/11:45 Mouse model implicates GNB3copy 

number in a novel childhood obesity syndrome. 

I. S. Goldlust, K. E. Hermetz, L. M. Catalano, R. A. 

Cozad, R. T. Barfield, K. N. Conneely, J. G. Mulle, S. 

Dharamrup, M. Hegde, K. Kim, B. Angle, A. Colley, A. 

E. Webb, E. C. Thorland, J. Ellison, J. Rosenfeld, B. C. 

Ballif, L. G. Shaffer, L. A. Demmer, Unique Rare 

Chromosome Support, M. K. Rudd. 

67/12:00 Modeling neurogenesis impairment in 

Down syndrome using induced pluripotent stem 

cells from monozygotic twins discordant for 

trisomy 21. Y. Hibaoui, I. Grad, S. R. Sailani, A. 

Letourneau, S. Dahoun, S. Gimelli, M. F. Pelte, F. 

Béna, S. E. Antonarakis, A. Feki. 

68/12:15 Discovery and interpretation of balanced 

chromosomal aberrations in neurodevelopmental 

abnormalities and prenatal diagnostics. M. E. 

Talkowski, V. Pillalamarri, I. Blumenthal, C. Hanscom, 

Z. Ordulu, J. Rosenfeld, L. G. Shaffer, J. F. Gusella, C. 

C. Morton. 

69/12:30 Predisposition of acrocentric short arm 

fusions due to nuclear location, nucleolar 

disorganization, and telomere-induced DNA 

damage. K. M. Stimpson, L. L. Sullivan, S. Chen, B. 

A. Sullivan. 



10:30 AM–12:45 PM 



SESSION 18 – Prenatal and Perinatal Genetics 


Moderators: Natalie Blagowidow, Harvey Inst. for 

Human Genet., Baltimore; David Chitayat, Mount Sinai 

Hosp., Toronto, Canada 

70/10:30 Lessons learned from next-gen 

cytogenetics: Whole genome sequence-based 

prenatal diagnosis of apparently balanced de novo 

chromosome rearrangements. Z. Ordulu, 

M. Talkowski, V. Pillalamarri, S. Pereira, I. Blumenthal, 

C. Hanscom, A. M. Lindgren, N. Hussain, S. Connolly, 

L. E. Wilkins-Haug, J. F. Gusella, C. C. Morton. 

71/10:45 The use of chromosome microarray 

analysis as a first-line test in pregnancies with a 

priori low risk for detection of submicroscopic 

chromosomal abnormalities. F. Fiorentino, 

S. Napoletano, C. Caiazzo, M. Sessa, S. Bono, 

L. Spizzichino, S. Michiorri, A. Gordon, A. Nuccitelli, 

G. Rizzo, M. Baldi. 

72/11:00 The challenge of preconceptional, 

preimplantation, and prenatal genetic diagnoses of 

mitochondrial DNA disorders. J. Steffann, S. 

Monnot, N. Gigarel, P. Vachin, E. Herzog, P. Burlet, 

N. Frydman, A. Benachi, G. Chalouhi, Y. Ville, R. 

Frydman, A.-S. Lebre, A. Rotig, D. C. Samuels, C. Elie, 

A. Munnich, J.-P. Bonnefont. 

73/11:15 The incidence and spectrum of genomic 

imbalance in products of conception: New insights 

from SNP microarray analysis of 2,400 miscarriage 

specimens. B. Levy, S. Sigurjonsson, B. J. Pettersen, 

M. K. Maisenbacher, Z. P. Demko, R. Lathi, R. Tao, 

V. Aggarwal, M. Rabinowitz. 

74/11:30 Noninvasive whole-genome sequencing of 

a human fetus. J. O. Kitzman, M. W. Snyder, M. 

Ventura, A. P. Lewis, R. Qiu, L. E. Simmons, H. S. 

Gammill, C. E. Rubens, D. A. Santillan, M. K. Santillan, 

J. C. Murray, H. K. Tabor, M. J. Bamshad, E. E. Eichler, 

J. A. Shendure. 

75/11:45 Spina bifida risk is conferred by multiple 

polymorphisms in folate one-carbon pathway 

genes. D. Gilbert, K. Lazaruk, J. Stein, J. Hardin, J. 

Witte, G. Shaw, E. Lammer, N. Marini, J. Rine. 

76/12:00 Bioinformatics approach for identifying the 

genetic contributions to preeclampsia. A.Uzun, 

I. Kurihara, J. Tavormina, R. Cabezas, A. Laliberte, 

A. Dewan, E. Triche, J. Padbury. 


77/12:15 Antenatal spectrum of CHARGE syndrome 

in 40 fetuses with CHD7 mutations. M. Legendre, 

M. Gonzales, G. Goudefroye, F. Bilan, P. Parisot, 

M. J. Perez, M. Bonnière, B. Bessières, J. 

Martinovic, A.-L. Delezoide, F. Jossic, C. Fallet- 

Bianco, M. Bucourt, J. Tantau, P. Loget, L. Loeuillet, 

N. Laurent, B. Leroy, H. Salhi, C. Rouleau, F. Guimiot, 

C. Chelin, A. Bazin, C. Alby, A. Kitzis, Y. Ville, 

F. Encha-Razavi, B. GilbertDussardier, M. Vekemans, 

T. Attié-Bitach, SOFFOET. 

78/12:30 Genetic normalization of day-3 embryos: 

Results from two independent preimplantation 

genetic screening laboratories. P. Brezina, 

E. Littman, Y. Sun, V. Phan, R. Anchan, A. Barker, 

M. Hughes, G. R. Cutting, W. G. Kearns. 





10:30 AM–12:45 PM 



SESSION 19 – Vascular and Congenital Heart Disease 


Moderators: Amy Roberts, Children’s Hosp. Boston; 

Bart L. Loeys, Univ. of Antwerp., Belgium 

79/10:30 Heterozygous germline mutations in a 

prototypical TGF repressor cause Shprintzen- 

Goldberg syndrome with aortic aneurysm. A. J. 

Doyle, J. J. Doyle, M. E. Lindsay, S. L. Bessling, N. 

Huso, D. Schepers, L. Gillis, G. Mortier, L. Van Laer, 

D. W. Mohr, M. J. Caulfield, A. F. Scott, C. J. Curry, B. 

Loeys, A. S. McCallion, H. C. Dietz. 

80/10:45 Loss-of-function mutations inTGFB2 

cause Loeys-Dietz syndrome: Towards solving the 

TGF� paradox in aortic aneurysmal disease. 

B. Loeys, M. E. Lindsay, D. Schepers, N. Ajit Bolar, 

J. Doyle, E. Gallo, J. Fert-Bober, M. J. E. Kempers, 

E. Fishman, Y. Chen, L. Myers, D. Bjeda, G. Oswald, 

B. M. Anderlid, M. Y. Yang, E. M. H. F. Bongers, 

J. Timmermans, A. C. Braverman, N. Canham, 

G. R. Mortier, H. G. Brunner, P. H. Byers, J. Van Eyk, 

L. Van Laer, H. Dietz. 

81/11:00 Genetic dissection of aortic disease in the 

Marfan syndrome. F. Ramirez, L. Carta, M. Del Solar, 

M. Lindsay, H. Dietz, J. R. Cook. 

82/11:15 Bicuspid aortic valve, aortic coarctation 

and patent ductus associated with MATR3 

disruption in human and mouse. F. Quintero- 

Rivera, Q. J. Xi, K. M. Keppler-Noreuil, J. H. Lee, A. 

W. Higgins, R. Anchan, A. E. Roberts, G. A. P. Bruns, 

R. Berezney, B. D. Gelb, R. V. Lacro, D. J. Harris, 

A. Kamp, I. P. Moskowitz, W. Lu, C. C. Morton, J. F. 

Gusella, R. L. Maas. 

83/11:30 Identification of the cause of blue rubber 

bleb nevus syndrome. J. Soblet, N. Limaye, M. 

Cordisco, A. Dompmartin, O. Enjolras, S. Holden, A. 

D. Irvine, C. Labrèze, A. Lanoel, P. N. Rieu, S. Syed, 

C. J. van der Vleuten, R. Watson, S. J. Fishman, J. B. 

Mulliken, L. M. Boon, M. Vikkula. 

84/11:45 Identifying genetic determinants of 

congenital heart defect in Down syndrome. M. R. 

Sailani, P. Makrythanasis, S. Deutsch, A. Valsesia, 

E. Migliavacca, F. Santoni, A. Sharp, C. Serra-Juhe, 

S. Vicari, R. Rabionet, Y. Grattau, G. Dembour, A. 

Megarbane, R. Touraine, S. Kitsiou, H. Fryssira, C. 

Chatzisevastou-Loukidou, E. Kanavakis, G. Merla, L. 

Perez-Jurado, X. Estivill, J. Delabar, S. E. Antonarakis. 

85/12:00 Transcriptome-wide decreased variation 

in gene expression of Down syndrome fibroblasts: 

Selection or canalization? K. Popadin, A. 

Letourneau, F. Santoni, S. E. Antonarakis. 

86/12:15 Mutations in OLFML2B within the QT 

interval associated region 1q23.3 disturb cardiac 

repolarization, predispose to Long-QT syndrome 

and to sudden infant death syndrome. A. Pfeufer, 

C. Congiu, Z. Schäfer, H. Prucha, M. Vennemann, 

I. Sinicina, N. Strutz-Seebohm, H. Kartmann, M. 

Schell, E. Kremmer, E. R. Behr, N. H. Bishopric, R. J. 

Myerburg, L. Crotti, P. J. Schwartz, A. A. Hicks, P. P. 

Pramstaller, W. Rottbauer, S. Kääb, T. Meitinger, M. 

Näbauer, M. Cohen, M. Donner, D. T. Mage, H. W. 

Mewes, T. Bajanowski, G. Seebohm, M. Ueffing, C. J. 

Gloeckner. 

87/12:30 The impact of inherited genetic variants 

associated with lipid profile, hypertension, and 

coronary artery disease on the risk of intracranial 

and abdominal aortic aneurysms. F. N. G. van `t 

Hof, Y. M. Ruigrok, A. F. Baas, L. A. L. M. Kiemeney, 

S. H. Vermeulen, A. G. Uitterlinden, F. Rivadeneira, A. 

Hofman, G. J. E. Rinkel, P. I. W. de Bakker. 




4:30 PM–6:30 PM 

SESSION 20 – Invited Presidential Symposium: Gene Discovery and Patent Law: Present Experience in the 

U.S. and in Europe 


With the present extraordinary pace of gene discovery, the question of who, if anyone, owns newly discovered 

genes will be critical to research and practice in human genetics. This issue was before the U.S. Supreme Court and 

remanded to the Federal Circuit Court of Appeals as Association for Molecular Pathology et al. v. Myriad Genetics, 

No. 11-725 where the decision was affirmed. In order to understand the many legal issues represented by this case, 

the role of this case in the larger context of legal issues in genetics, and the consequences of the decision on this 

case for research and services in human genetics, we have asked a panel of experts to educate us. 

Hank Greely, Professor of Law and Director of the 

Center for Law and Biosciences at Stanford University, 

will moderate the panel and present an overview of 

issues on which genetics and the law have come in 

contact in the U.S. 

Mark Lemley, Professor of Law and Director of the 

Program in Law, Science, and Technology at Stanford 

University, will describe the meaning of patents in the 

context of intellectual property in general and gene 

discovery in particular. 

Lori Andrews, Professor of Law at IIT Chicago-Kent 

College of Law and Fellow of the Hastings Institution, 

will describe the issues of the Myriad case and the 

roles of lawyers, practitioners and advocates in the 

evolution of the case. 

Gert Matthijs, Professor and Head of the Laboratory 

for Molecular Diagnostics at the Center for Human 

Genetics at University of Leuven, Belgium, will discuss 

the challenge to gene patenting brought to the 

European Patent Office by European human 

geneticists, the consequences for genetics services of 

the 2008 EPO decisions, and the present issues of 

gene patents in Europe. 

We intend these presentations to be educational rather than confrontational. Each speaker will present both their 

own views and alternative, opposing points of view. Our goal is to understand the complexity of these issues 

from the legal perspective. Considerable time after the presentations will be devoted to answering questions from 

the audience. We hope ASHG members will enjoy looking at these questions from a different angle and will find 

this perspective useful in their future research. 





8:00 AM–10:00 AM 

Concurrent Invited Session II (21-28) 

SESSION 21 – Mendelian Randomization: Using 

Genetic Variants to Inform Causality in Observational 

Epidemiology 


Moderators: David M. Evans, Univ. of Bristol, U.K.; Lyle 

J. Palmer, Univ. of Ontario, Canada 

A central problem in classical observational 

epidemiology concerns whether an association 

between a medically relevant exposure and a disease 

outcome reflects a causal relationship, or whether the 

purported association is a spurious result of latent 

confounding, bias or reverse causality. For example, 

does an inverse correlation between red wine drinking 

and heart disease, mean that red wine prevents 

heart attacks? The gold standard in proving whether 

an association reflects a causal relationship is the 

randomized controlled trial (RCT), in which participants 

are randomly assigned into groups that differ on 

average only in terms of their treatment (exposure) 

effect. However, RCTs are typically expensive, of long 

duration and in some cases, ethically or practically 

infeasible to implement. Mendelian randomization 

is a relatively new methodology that uses genetic 

variants that have been robustly associated with 

medically relevant exposures from genetic association 

studies (e.g. genetic variants related to BMI, smoking, 

alcohol etc.) to determine whether these exposures 

are truly causally related to disease outcomes. This 

session describes the principles behind Mendelian 

randomization, explains how Mendelian randomization 

can be used in epidemiological and gene expression 

studies to assess causality, describes its assumptions 

and limitations, and finally discusses extensions and 

promising alternatives to the method. 

8:00 AM Mendelian randomization: Overcoming 

the limitations. G . D. Smith. Univ. of Bristol, U.K. 

8:30 AM Utilizing multiple variants to improve 

Mendelian randomization studies. B . Pierce. Univ. 

of Chicago. 

9:00 AM Application of Mendelian randomization 

analyses in prospective studies from Denmark. 

A. Tybjærg-Hansen. Univ. of Copenhagen, Denmark. 

9:30 AM Mendelian randomization for HDL levels 

and implications for clinical risk prediction. 

B. F. Voight. Univ. of Pennsylvania Sch. of Med. 


8:00 AM–10:00 AM 


SESSION 22 – Common and Rare CNVs: Genesis, 

Patterns of Variations and Human Diseases 


Moderators: Chack Yung Yu, Nationwide Children’s 

Hosp. and The Ohio State Univ.; Edward J. Hollox, 

Univ. of Leicester, U.K. 

Copy number variation (CNV) is a part of human 

genomic variation. There are two types of CNVs. The 

first type is common CNVs that occur at regions with 

complex genomic structures and engage genes 

involving in gene-environment interactions. The 

diversity of common CNVs both in terms of copy 

number and sequence variation is remarkable, yet 

because of their complex and challenging nature, they 

are under-studied. The second type is de novo or 

recent CNVs involved deletions and duplications of 

genomic DNA fragments that are rare individually but 

moderately frequent collectively, particularly among 

subjects with developmental, neurologic and 

psychiatric disorders. This session will highlight the 

complexity of common CNVs and discuss their roles in 

immune-mediated and cognitive diseases. In addition, 

the session will feature mechanistic studies to 

understand the generation of CNVs, and illustrate 

techniques for the detection and quantification of 

common and rare CNVs. 

8:00 AM CNVs engaged in immune complex 

handling and autoimmune diseases: Complement 

C4 and immunoglobulin Fc-gamma receptors. 

C. Y. Yu. Nationwide Children’s Hosp. and The Ohio 

State Univ. 

8:30 AM Human lineage-specific CNVs: DUF 1220 

domain copy number linked to cognitive disease 

and brain evolution. J. M. Sikela. Univ. of Colorado 

Sch. of Med., Aurora. 

8:55 AM TAR: A mixed genomic disorder caused 

by a low-frequency regulatory SNP combined with 

a 1q21.1 microdeletion. W. H. Ouwehand. Cambridge 

Univ. and Wellcome Trust Sanger Inst., Cambridge, 

U.K. 

9:20 AM Genetic and environmental risk factors 

for de novo CNVs. T. W. Glover. Univ. of Michigan. 

9:40 AM Frequency estimation of low-level 

somatic mosaicism for pathogenic CNVs. 

P. T. Stankiewicz. Baylor Col. of Med. 



8:00 AM–10:00 AM 


SESSION 23 – Advancing Gene Therapy to the Clinic: 

Molecular Medicines Come of Age 


Center 

Moderator: Beverly Davidson, Univ. of Iowa 

The first evidence for uptake and expression of 

exogenous DNA in mammalian cells occurred in the 

60s and 70s, and in 1980 the first experiment was 

performed in which patients were given plasmid DNA 

expressing protein lacking in their blood cells. Over the 

next 25 years researchers focused on improved vector 

development and better delivery modalities, along with 

more appropriate clinical trial design, to improve 

the chances to positively impact disease course in 

patients with genetic diseases. In this symposium we 

will present exciting advances in gene therapy for the 

eye (Jean Bennett), the liver (Kathy High), blood 

disorders (Maria-Gracia Roncolo), the leukodystrophies 

(Nathalie Cartier), and lysosomal storage diseases 

affecting the brain (Beverly Davidson). Data presented 

will span from preclinical studies in animal models to 

advanced clinical trials in affected individuals using 

several vector platforms. 

8:00 AM Safety and efficacy of AAV-mediated 

gene transfer to liver for severe hemophilia B. 

K. High. Children’s Hosp. of Philadelphia. 

8:25 AM Safety and efficacy after AAV2 

re- administration in subjects with congenital 

blindness due to RPE65 mutations. J. Bennett. Univ. 

of Pennsylvania. 

8:45 AM Advancing gene therapy for ADA-SCID 

and beyond. M- G. Roncarolo. Univ. Vita-Salute San 

Raffaele., Milan, Italy. 

9:10 AM Gene therapy for the leukodystrophies. 

N. Cartier. Saint Vincent de Paul Hosp., Paris, France. 

9:30 AM AAV gene therapy for childhood onset 

neurological disease caused by lysosomal enzyme 

deficiencies. B. Davidson. Univ. of Iowa. 



8:00 AM–10:00 AM 


SESSION 24 – RNA Splicing in Human Development, 

Diseases and Natural Variation 


Moderators: David E. Symer, The Ohio State Univ. 

Comprehen. Cancer Ctr.; Richard A. Padgett, Lerner 

Res. Inst., Cleveland 

RNA splicing has been identified and studied for 

decades, but its roles in normal human biology and in 

contributing to human diseases have not been fully 

described to date. The presentations in this session 

will address the latest breakthroughs in understanding 

how RNA splicing and processing contribute to human 

development, diseases including various cancers and 

neurodegeneration, and natural variation. Also 

discussed will be the development of animal models 

of aberrant RNA splicing, and optimization of the latest 

technologies of RNA-seq and bioinformatics analysis 

of RNA splicing variation. 

8:00 AM Functional consequences of minor 

spliceosomal snRNA mutations in human 

development and natural variation. D. E. Symer. 

The Ohio State Univ. Comprehen. Cancer Ctr. 

8:25 AM Multicopy snRNA genes and 

neurodegeneration. S. L. Ackerman. HHMI/The 

Jackson Lab., Bar Harbor, ME. 

8:50 AM Understanding the chemical mechanisms 

and biological implications of splicing reactions. 

R. A. Padgett. Lerner Res. Inst., Cleveland. 

9:15 AM Overlaying RNA maps onto human 

disease. R. B. Darnell. HHMI and Rockefeller Univ. 

9:40 AM “Seq-ins” the Myotonic Dystrophy Transcriptome. 

E. Wang. MIT 





8:00 AM–10:00 AM 


SESSION 25 – Genomic Medicine: ELSI Goes 

Mainstream 


Moderators: Wylie Burke, Univ. of Washington; James 

P. Evans, Univ. of North Carolina at Chapel Hill 

Next-generation sequencing of the human genome 

has the potential to predict disease risk, identify 

disease causation, and refine therapeutic interventions. 

As research-based sequencing moves into clinical 

practice, however, a number of ethical and social 

questions will enter mainstream practice, and will need 

to be addressed in a practical manner to inform best 

practices. For example, how do key stakeholders 

(patients, providers, researchers, and the public) view 

the risks and benefits of genome sequencing, and how 

can benefits be optimized and risks mitigated? How 

do we address children’s rights as well as other family 

members’ rights with respect to potentially shared 

information learned from sequencing individuals? 

Empirical data can contribute to a better 

understanding of these issues; but what kinds of data 

are most relevant and how can they be used to inform 

practice and policy? How do we navigate the 

increasingly blurred line between research and clinical 

care? These issues will be discussed and empirical 

data presented by a panel of experts investigating the 

ethical and social issues of genome sequencing in a 

variety of research and patient populations. 

8:00 AM Views of patients, parents of patients, 

and clinicians toward whole genome sequencing 

for clinical care management. A. A. Lemke. Med. 

Col. of Wisconsin. 

8:30 AM My46: An innovative web-based 

approach to managing and returning results from 

exome and whole genome sequencing. H. K. Tabor. 

Seattle Children’s Hosp. 

9:00 AM Returning “actionable” results to family 

members in a pancreatic cancer biobank: Views of 

probands and family members. B. Koenig. Sch. of 

Nursing, UCSF. 

9:20 AM Approaches and attitudes on return of 

WGS/WES results. K. Ormond. Stanford Univ. 

9:40 AM Next steps in development of best 

practices for use of genome sequencing in clinical 

care. A. McGuire. Baylor Col. of Med. 


8:00 AM–10:00 AM 


SESSION 26 – Model Organism Genetics, Human 

Biology and Human Disease 


Center 

Moderators: Phil Hieter, Univ. of British Columbia; Hal 

Dietz, Johns Hopkins Univ. Sch. of Med. 

Yeast, worms, flies, zebrafish, and mice are key 

‘model’ organisms that offer powerful experimental 

approaches for the study of biological processes 

relevant to human biology and disease. The genome 

sequencing projects of the 1990s reemphasized the 

striking extent to which all organisms are built from the 

same genes, and highlighted the enormous value of 

model experimental organisms for the study of 

evolutionarily conserved gene function. Few, if any, 

processes at the gene level are known to be unique to 

humans. Indeed, key aspects of most human 

disorders can be modeled in experimentally tractable 

organisms through the analysis of orthologous genes 

and pathways, using the genetic, biochemical and cell 

biological toolboxes that have been developed in each 

model organism. This symposium will accent the 

current relevance of model organism studies for the 

understanding, diagnosis, and treatment of human 

disease, and anticipate the future role of model 

organisms in human disease research. We chose to 

highlight a diverse set of biological processes and 

experimental systems to make the point that the 

principles of cross species analysis of basic gene 

function extend to the study of all human disorders. 

8:00 AM Budding yeast: Lessons from yeast 

applied to the study of human genetic diseases of 

protein traffic. R. Schekman. Univ. of California, 

Berkeley. 

8:30 AM The nematode worm: Mechanisms 

regulating aging in worms and man. C. Kenyon. 

UCSF. 

9:00 AM The zebrafish: Zebrafish heart 

development and function. D. Stainier. Max Planck 

Inst. for Heart and Lung Res., Bad Nauheim, Germany. 

9:30 AM The laboratory mouse: Mouse models of 

glaucoma and retinal ganglion cell loss. S. John. 

HHMI/The Jackson Lab., Bar Harbor, ME. 



8:00 AM–10:00 AM 


SESSION 27 – Next-Generation Sequencing in Isolated 

Populations: Opportunities for Accelerated Gene 

Discovery in Complex Traits 


Moderators: William K. Scott, Univ. of Miami; Jeffrey R. 

O’Connell, Univ. of Maryland Baltimore 

This session will present recent developments in the 

application of whole-exome or whole-genome 

sequencing (collectively `next-generation sequencing’ 

or NGS) in samples from genetically isolated 

populations. Such populations have long been the 

focus of gene discovery efforts for complex traits 

because of the hypothesized reduction in the genetic 

complexity of the trait, and the enrichment of rare 

alleles. Prior genome-wide linkage efforts could detect 

large genomic regions potentially harboring rare 

alleles, while genome-wide association efforts could 

detect smaller areas with more common alleles. NGS 

allows the direct examination of both common and 

rare alleles and can be analyzed in both frameworks. 

Characterisics of isolated population may facilitate the 

blending of NGS with these prior approaches, by deep 

sequencing a small number of individuals to use as a 

reference panel for imputation within pedigrees or on 

the population level, by `filtering’ detected variants 

against pedigree relationships (or kinship estimates) in 

individuals with the trait. However, since the structure 

of the population must be taken into account, 

application of existing reference panels or methods for 

these analyses must be done carefully. The speakers 

for this session will discuss approaches to using NGS 

data for gene discovery for complex traits in isolated 

populations, reviewing methodologic approaches 

specific to such studies and illustrating their use in 

data sets drawn from such populations. 

8:00 AM Using low-pass whole genome 

sequencing to create a reference population for 

genome imputation in an isolated population: 

Examples from the SardiNIA study. S. Sanna. 

Cittadella Univ. di Monserrato, Italy. 

8:30 AM Fine-mapping linkage of age-related 

traits using whole-exome sequencing in a 

midwestern Amish population sample. W. K. Scott. 

Univ. of Miami. 

9:00 AM The many-of-few: The power of genetic 

isolates for discovery and function of rare variants. 

J. R. O’Connell. Univ. of Maryland Baltimore. 

9:30 AM Studying rare variants in the Genetic 

Research in Isolated Populations program. C. van 

Duijn. Erasmus Med. Ctr. Rotterdam, Netherlands. 



8:00 AM–10:00 AM 


SESSION 28 – Transforming Medical Student Education 

in Genetics and Genomics: How Do We Improve Health 

and Individualize Care through Medical School Genetic 

and Genomic Curricula? 


Moderators: Joann N. Bodurtha, Johns Hopkins Univ.; 

Joan Scott, NCHPEG, Lutherville, MD 

This session will provide national perspectives on 

integrating genetics and genomics in medical student 

education. Controversies, ranging from the marketing 

of curriculum change to addressing personal 

genotyping, and lessons learned will be emphasized. 

Challenges in 4-year integration, evaluation, ethical 

issues and competing priorities will be included. 

Drs. Valle, Burke, and Potocki will describe 3 different 

models of curriculum development and delivery. 

Drs. Demmer and Salari will provide contrasting 

experiences in introducing personal genotyping by 

students into the curriculum. 

8:00 AM Genes to Society—3 years of 

implementation. D. Valle. Johns Hopkins Univ. 

8:30 AM The Vermont Integrated Curriculum: The 

UVM experience. L. Burke. Univ. of Vermont Col. of 

Med. 

8:55 AM Effecting change: Building a genetics 

curriculum that supports the physicians of 

tomorrow. L. Potocki. Baylor Col. of Med. 

9:20 AM Lessons learned from the introduction of 

personalized genotyping into a medical school 

curriculum. L. Demmer. Carolinas Medical Center. 

9:40 AM Personal genotyping in a medical school 

curriculum on genomics and personalized 

medicine. K. Salari. Stanford Univ. Sch. of Med. 





10:30 AM–12:45 PM 


Session B (29-37) 

SESSION 29 – Next-Generation Sequencing: Methods 



Moderators: John S. Witte, UCSF; Priya Duggal, Johns 

Hopkins Bloomberg Sch of Publ. Hlth. 

88/10:30 The value of population-specific reference 

panels for genotype imputation in the age of 

whole-genome sequencing. C. Fuchsberger, B. 

Howie, M. Laakso, M. Boehnke, G. Abecasis on behalf 

of Genetics of Type-2 Diabetes Consortium. 

89/10:45 Fast and accurate 1000 Genomes 

imputation using summary statistics or lowcoverage 

sequencing data. B. Pasaniuc, N. Zaitlen, 

G. Bhatia, A. Gusev, N. Patterson, A. L. Price. 

90/11:00 Accurate haplotype estimation using 

phase informative sequencing reads. O. Delaneau, 

J.-F. Zagury, J. Marchini. 

91/11:15 An LD-based method for genotype calling 

and phasing using low-coverage sequencing reads 

and a haplotype scaffold. A. Menelaou, J. Marchini. 

92/11:30 Mixed functional linear model for 

sequence-based quantitative trait association 

studies unifying population and family study 

designs. M. Cao, Y. Zhu, M. Xiong. 

93/11:45 Rare variant extensions of the 

transmission disequilibrium test detects 

associations with autism exome sequence data. Z. 

He, B. O’Roak, J. Smith, G. Wang, M. Kan, S. Hooker, 

B. Li, N. Krumm, D. Nickerson, E. Eichler, S. Leal. 

94/12:00 Methods for noninvasive prenatal 

determination of fetal genomes. M. W. Snyder, 

J. O. Kitzman, M. Ventura, A. P. Lewis, R. Qiu, L. E. 

Simmons, H. S. Gammill, C. E. Rubens, D. A. Santillan, 

M. K. Santillan, J. C. Murray, H. K. Tabor, M. J. 

Bamshad, E. E. Eichler, J. A. Shendure. 

95/12:15 Associating complex traits with rare 

variants identified by NGS: Improving power by a 

position-dependent kernel approach. U. Bodenhofer, 

S. Hochreiter. 

96/12:30 The Kaiser Permanente/UCSF Genetic 

Epidemiology Research Study on Adult Health and 

Aging: Demographic and behavioral influences on 

telomeres and relationship with all-cause mortality. 

C. Schaefer, S. Sciortino, M. Kvale, K. Lapham, J. Lin, 

D. Ranatunga, S. Rowell, M. Sadler, S. Miles, 

W. McGuire, D. Ludwig, L. Walter, I. Listerman, S. Van 

Den Eeden, R. Whitmer, C. Quesenberry, N. Risch, 

E. Blackburn. 


10:30 AM–12:45 PM 



SESSION 30 – Genetics and Intellectual Disability 


Center 

Moderators: Roger Reeves, Johns Hopkins Univ.; Heidi 

Rehm, Harvard Univ. 

97/10:30 Diagnostic exome sequencing in patients 

with intellectual disability of unknown cause. J. de 

Ligt, M. H. Willemsen, B. W. M. van Bon, T. Kleefstra, 

H. G. Yntema, T. Kroes, A. T. Vulto-van Silfhout, D. A. 

Koolen, P. de Vries, C. Gilissen, A. Hoischen, H. 

Scheffer, B. B. A. de Vries, H. G. Brunner, 

J. A. Veltman, L. E. L. M. Vissers. 

98/10:45 C-terminal deletions of the AUTS2 locus 

cause distinct syndromic features and cognitive 

impairment. E. Voorhoeve, G. Beunders, C. Golzio, L. 

Pardo, J. Rosenfeld, M. Talkowski, I. Simonic, A. 

Lionel, S. Vergult, R. Pyatt, J. van de Kamp, A. Nieuwint, 

M. Weiss, P. Rizzu, D. Posthuma, L. Verwer, H. 

Meijers-Heijboer, B. Menten, G. Mortier, S. Scherer, 

E. Eichler, S. Girirajan, N. Katsanis, A. Groffen, E. 

Sistermans. 

99/11:00 Autism traits in the RASopathies. I. Corbin, 

G. Desachy, K. Rauen, L. Weiss. 

100/11:15 Identification of novel recessive 

mutations in genes for intellectual disability. B. De 

Vries, J. H. M. Schuurs-Hoeijmakers, A. T. Vulto-van 

Silfhout, L. E. L. M. Vissers, J. de Ligt, C. Gilissen, 

I. van de Vondervoort, M. T. Greally, C. W. Ockeloen, 

M. H. Willemsen, E. M. Bongers, G. Hira, J. Y. Hehir- 

Kwa, R. Pfundt, T. Kleefstra, K. Neveling, S. Reinateo, 

A. Vitello, P. Failla, D. Greco, M. Fichera, O. Galesi, 

B. W. M. van Bon, J. A. Veltman, C. Romano, 

M. A. Willemsen, H. G. Brunner, H. van Bokhoven, 

A. P. M. de Brouwer. 

101/11:30 Causal de novo SNVs, indels and CNVs in 

children with undiagnosed developmental 

disorders. M. Hurles, M. van Kogelenberg, K. Morley, 

T. Fitzgerald, S. Gerety, A. Tivey, S. Gribble, S. Al-Turki, 

S. Clayton, C. Wright, J. Barrett, H. Firth, D. 

FitzPatrick, N. Carter on behalf of DDD Project. 

102/11:45 Making headway with the molecular and 

clinical definition of rare genetic disorders with 

intellectual disability. M. H. Willemsen, W. M. 

Wissink-Lindhout, L. E. M. Vissers, A. P. M. de 

Brouwer, J. H. M. Rensen, N. de Leeuw, R. Pfundt, H. 

G. Yntema, J. de Ligt, J. A. Veltman, H. G. Brunner, 

H. M. J. Lantman - de Valk, B. C. J. Hamel, H. van 

Bokhoven, T. Kleefstra. 



10:30 AM–12:45 PM 


Session B (29-37) (SESSION 30, continued) 

103/12:00 MBD5 dosage affects multiple 

neurodevelopmental pathways in common with 

other genetic syndromes. S. V. Mullegama, J. A. 

Rosenfeld, C. Orellana, B. W. M. van Bon, E. A. 

Repnikova, L. Brick, L. Dupuis, D. J. Stavropoulos, D. 

L. Thrush, J. G. Foster, K. Manickam, A. Lin, J. C. 

Hodge, M. E. Talkowski, J. F. Gusella, S. Schwartz, S. 

Aradhya, R. E. Pyatt, B. B. A. de Vries, R. Mendoza- 

Londono, L. G. Shaffer, S. H. Elsea. 

104/12:15 Exome sequencing in X-linked 

intellectual disability family assess the role of 

the KIAA2022 gene in the etiology of intellectual 

disability. M. Rio, S. Mouton, AC. Mazery, C. Bole- 

Feysot, P. Nitschke, N. Bahi-Buisson, A. Munnich, 

L. Colleaux. 

105/12:30 Biallelic mutations of a ubiquitin-ligaseencoding 

gene cause an Ohdo-like intellectual 

disability syndrome. G. Borck, B. Dallapiccola, R. 

Ramirez-Solis, A. Segref, H. Thiele, A. Edwards, M. J. 

Arends, X. Miro, J. K. White, J. Desir, M. Abramowicz, 

M. L. Dentici, K. Hofmann, A. Har-Zahav, E. Ryder, N. 

A. Karp, N. J. Ingham, G. Nuernberg, S. Abdelhak, M. 

Pasmanik-Chor, O. Konen, R. I. Kelley, M. Shohat, P. 

Nuernberg, J. Flint, K. P. Steel, T. Hoppe, C. Kubisch, 

D. J. Adams, L. Basel-Vanagaite. 



10:30 AM–12:45 PM 



SESSION 31 – GWAS from Head to Toe 


Moderators: Erik Ingelsson, Karolinska Inst., Sweden; 

Nora Franceschini, Univ. of North Carolina at Chapel 

Hill 

106/10:30 Androgenetic alopecia: Identification 

of four new genetic risk loci and evidence for the 

contribution of WNT-signaling to its etiology. 

S. Heilmann, A. K. Kiefer, N. Kluck, D. Drichel, A. M. 

Hillmer, C. Herold, J. Y. Tung, N. Eriksson, S. Redler, 

R. C. Betz, R. Li, H. Stefansson, D. R. Nyholt, K. Song, 

S. H. Vermeulen, S. Kanoni, G. Dedoussis, N. G. 

Martin, L. A. Kiemeney, V. Mooser, K. Stefansson, J. B. 

Richards, T. Becker, F. F. Brockschmidt, D. Hinds, 

M. M. Nöthen. 

107/10:45 A polymorphism in human estrogenrelated 

receptor beta is associated with early 

indications of hearing loss from acoustic overload 

in young adult musicians. V. C. Henrich, S. L. 

Phillips, S. J. Richter, S. Teglas, R. Morehouse. 

108/11:00 Dissection of polygenic variation for 

human height into individual variants, specific loci 

and biological pathways from a GWAS metaanalysis 

of 250,000 individuals. T. Esko, A. R. Wood, 

S. Vedantam, J. Yang, S. Gustaffsson, S. I. Berndt, J. 

Karjalainen, H. M. Kang, A. E. Locke, A. Scherag, D. 

C. Croteau-Chonka, F. Day, R. Magi, T. Ferreira, 

J. Randall, T. W. Winkler, T. Fall, Z. Kutalik, T. 

Workalemahu, G. Abecasis, M. E. Goddard, L. 

Franke, R. J. F. Loos, M. N. Weedon, E. Ingelsson, P. 

M. Visscher, J. N. Hirschhorn, T. M. Frayling, GIANT 

Consortium. 

109/11:15 Genome-wide association studies metaanalysis 

for fracture risk points to loci related to 

hormonal and neurological pathways: The GEFOS 

Consortium. L. Oei, H. F. Zheng, E. E. Ntzani, C. M. 

Nielson, U. Styrkarsdottir, P. M. Ridker, K. K. Tsilidis, 

K. Estrada, A. Enneman, A. Vernon-Smith, R. D. 

Jackson, S. Trompet, T. Lehtimäki, S. Kaptoge, T. B. 

Harris, J. Eriksson, N. Amin, A. Metspalu, P. C. Sham, 

E. Evangelou, J. P. A. Ioannidis, G. Thorleifsson, A. G. 

Uitterlinden, S. A. Cummings, T. Spector, D. P. Kiel, D. 

Chasman, E. Orwoll, J. B. Richards, F. Rivadeneira, 

GEFOS Consortium. 

110/11:30 Genetic landscape of the red blood cell. 

J. C. Chambers, P. van der Harst, W. Zhang, I. Mateo 

Leach, J. Sehmi, N. Verweij, D. S. Paul, A. Rendon, U. 

Elling, H. Allayee, A. Radhakrishnan, J. S. Beckmann, 

G. V. Dedoussis, P. Deloukas, A. A. Hicks, S. Sanna, 

M. Uda, J. Penninger, C. Gieger, J. S. Kooner, W. 

Ouwehand, N. Soranzo, HaemGen RBC Consortium. 





10:30 AM–12:45 PM 



111/11:45 Discovery and fine-mapping of serum 

protein loci through trans-ethnic meta-analysis. A. 

P. Morris, Y. Okada, F. J. A. van Rooij, B. P. Prins, M. 

F. Feitosa, M. Karakas, J. Felix, B. Z. Alizadeh, L. A. 

Cupples, J. R. B. Perry, N. Franceschini, CHARGE 

Consortium Protein Working Group. 


Epidemiology Research Study on Adult Health 

and Aging: A genome-wide association study of 

telomere length in a multi-ethnic cohort of 100,000 

subjects. M. Kvale, K. Lapham, T. Hoffmann, S. 

Sciortino, L. Walter, Y. Banda, I. Listerman, J. Lin, S. 

Hesselson, P. Kwok, E. Blackburn, C. Schaefer, N. 

Risch. 

113/12:15 Heritability of the variation in aging in 

two longitudinal family cohort studies: SardiNIA/ 

Progenia Study and Framingham Heart Study. J. 

Bragg-Gresham, S. Sanna, C. Sidore, A. Mulas, F. 

Busonero, A. Maschio, M. Urru, F. Reinier, R. Berutti, 

M. Marcelli, R. Cusano, M. Oppo, D. Pitzalis, M. 

Zoledziewska, A. Angius, C. Jones, A. Cao, M. Uda, S. 

Kardia, D. Schlessinger, F. Cucca, G. Abecasis. 

114/12:30 Over 250 novel associations with human 

morphological traits. N. Eriksson, C. B. Do, 

J. Y. Tung, A. K. Kiefer, D. A. Hinds, J. L. Mountain, 

U. Francke. 


10:30 AM–12:45 PM 



SESSION 32 – Cardiovascular Genetics: GWAS and 

Beyond 


Moderators: Cristen J. Willer, Univ. of Michigan; 

Panagiotis Deloukas, Wellcome Trust Sanger Inst., 

U.K. 

115/10:30 Coronary artery disease loci identified in 

over 190,000 individuals implicate lipid metabolism 

and inflammation as key causal pathways: 

Evidence for independent signals in many of the 

risk loci. S. Kanoni, C. Willenborg, M. Farrall, T. L. 

Assimes, J. R. Thompson, E. Ingelsson, D. Saleheen, 

J. Erdmann, M. P. Reilly, R. Collins, S. Kathiresan, A. 

Hamsten, U. Thorsteinsdottir, J. S. Kooner, J. Danesh, 

C. N. A. Palmer, R. Roberts, H. Watkins, H. Schunkert, 

N. J. Samani, P. Deloukas for CARDIoGRAMplusC4D 

Consortium. 

116/10:45 Genome-wide association study in Han 

Chinese identifies four new susceptibility loci for 

coronary artery disease. D. Gu, X. Lu, L. Wang, S. 

Chen, J. Huang, H. Li, X. Yang, Y. Hao, China 

Atherosclerosis Genetics Consortium. 

117/11:00 Discovery of 63 novel loci and refinement 

of known loci associated with lipid levels. C. 

Willer, G. R. Abecasis, M. Boehnke, L. A. Cupples, P. 

Deloukas, P. W. Franks, S. Gustafsson, E. Ingelsson, 

S. Kathiresan, K. L. Mohlke, G. M. Peloso, S. S. Rich, 

S. Ripatti, M. Sandhu, E. M. Schmidt, S. Sengupta, 

Global Lipids Genetics Consortium. 



Aging: Genome-wide association study of plasma 

HDL and LDL and treatment response in over 

100,000 subjects. T. J. Hoffmann, M. N. Kvale, Y. 

Banda, S. E. Hesselson, L. Walter, S. Sciortino, D. K. 

Ranatunga, D. Ludwig, C. Iribarren, R. Grant, P. Kwok, 

C. Schaefer, N. Risch. 

119/11:30 Genome-wide screen with 1000 Genomes 

imputed data identifies 19 new lipid loci and new 

variants with stronger effects in previously known 

loci. I. Surakka, A.-P. Sarin, R. Mägi, M. Horikoshi, S. 

Wiltshire, T. Esko, T. Ferreira, L. Marullo, G. 

Thorleifsson, A. Mahajan, S. Hägg, A. Isaacs, M. 

Beekman, J. S. Ried, T. W. Winkler, C. P. Nelson, C. 

Willenborg, A. Morris, M. I. McCarthy, I. Prokopenko, 

S. Ripatti for ENGAGE Consortium. 

120/11:45 Rare coding variation and risk for 

myocardial infarction: an exome chip study of 

~6,000 cases and controls. R. Do on behalf of NHLBI 

Exome Sequencing Project - Early Onset Myocardial 

Infarction. 

121/12:00 High exome mutational burden in 58 

African Americans with persistent extreme blood 

pressure. K.-D. H. Nguyen, A. C. Morrison, A. Li, 

R. Gibbs, E. Boerwinkle, A. Chakravarti. 



10:30 AM–12:45 PM 



122/12:15 Chipping a hole-in-one from the FAIRE 

way: Use of post-GWAS fine-mapping genotyping 

arrays for functional variant discovery. A. J. P. 

Smith, F. Drenos, P. Howard, C. Giambartolomei, P. J. 

Talmud, V. Plagnol, S. E. Humphries. 

123/12:30 Strong association of one carbon 

metabolism genes with stroke and change in postmethionine 

load homocysteine levels in the 

Framingham Heart and Vitamin Intervention for 

Stroke Prevention studies. S. R. Williams, Q. Yang, 

F. Chen, X. Liu, K. Keen, P. Jacques, W. M. Chen, 

G. Weinstein, F. C. Hsu, A. Beiser, L. Wang, 

K. F. Doheny, P. A. Wolf, M. Zilka, J. Selhub, 

B. B. Worrall, S. Seshadri, M. M. Sale, Genomics and 

Randomized Trials Network (GARNET). 



10:30 AM–12:45 PM 



SESSION 33 – Clinical Genetics: Mutations, Mutations 

and Syndromes 


Center 

Moderators: Nathaniel Robin, Univ. of Alabama at 

Birmingham; Anne Slavotinek, UCSF 

124/10:30 Baraitser-Winter syndrome: Delineation 

of the phenotypic spectrum in a large series of 

molecularly defined patients. A. Verloes, O. A. 

Abdul-Rahman, J. Allanson, J. F. Atkin, M. Baraitser, H. 

Brunner, N. Chassaing, K. Devriendt, V. Drouin, A. Fry, 

J. P. Fryns, F. Giuliano, K. W. Gripp, D. Lacombe, A. 

Lin, G. Mancini, M. Marble, M. Nezarati, M. Nowaczyk, 

S. Osimani, M. Rossi, C. Rusu, Y. Sznajer, C. Van 

Ravenswaaij, J. Masliah, J. B. Rivière, B. W. M. van 

Bon, A. Hoischen, W. Dobyns, D. Pilz. 

125/10:45 Three novel mutations in MED12 cause 

Ohdo syndrome Maat-Kievit-Brunner type. A. T. 

Vulto-van Silfhout, A. Hoischen, B. W. M. van Bon, 

W. M. Nillesen, C. Gilissen, F. Gao, J. M. Spaeth, B. 

C. Hamel, T. Kleefstra, M. A. A. P. Willemsen, H. van 

Bokhoven, H. G. Yntema, B. B. A. de Vries, H. G. 

Brunner, T. G. Boyer, A. P. M. de Brouwer. 

126/11:00 Heterogeneity of mutational mechanisms 

and modes of inheritance in auriculo-condylar 

syndrome. C. Gordon, A. Vuillot, A. Omarjee, S. Park, 

J. Horst, R. McGowan, E. Tobias, S. García-Miñaúr, M. 

Bitner, L. Jakobsen, P. Kroisel, A. Stewart, R. Palmer, 

A. Munnich, M. Holder, A. Lin, A. Henderson, L. Basel- 

Vanagaite, E. Gerkes, L. Wilson, M. Cunningham, S. 

Marlin, S. Lyonnet, J. Amiel. 

127/11:15 Genetic heterogeneity of Myhre 

syndrome. C. Le Goff, C. Michot, C. Mahaut, 

A. Abhyankar, W. Le Goff, V. Serre, A. Afenjar, A. 

Brooks, N. Brunetti-Pierri, P. Campeau, A. Destrée, 

M. di Rocco, D. Donnai, R. Hennekam, D. Heron, S. 

Jacquemont, S. Mansour, S. Marlin, R. McGowan, H. 

Murphy, M. Simon, I. Stolte- Dijkstra, J. Tolmie, R. 

Touraine, N. Van der Aa, T. Van Essen, A. Verloes, J. L. 

Casanova, A. Munnich, V. Cormier-Daire. 

128/11:30 Seven novel families with ADCL favor 

clinical and molecular homogeneity. C. Bodemer, B. 

Callewaert, M. Kempers, E. Bourrat, M. Renard, O. 

Vanakker, F. Malfait, J. De Backer, P. J. Coucke, S. 

Hadj-Rabia, A. De Paepe. 

129/11:45 Comprehensive clinical and molecular 

analysis of 12 families with type I recessive cutis 

laxa. B. Callewaert, C.-T. Su, T. Van Damme, P. 

Vlummens, F. Malfait, O. Vanakker, B. Schulz, M. Mac 

Neal, E. C. Davis, J. G. H. Lee, A. Salhi, S. Unger, K. 

Heimdal, S. De Almeida, U. Kornak, H. Gaspard, J. 

L. Bresson, K. Prescott, M. E. Gosendi, S. Mansour, 

G. E. Pierard, S. Madan-Khetarpal, F. C. Sciurba, S. 

Symoens, P. J. Coucke, L. Van Maldergem, Z. Urban, 

A. De Paepe. 





10:30 AM–12:45 PM 



130/12:00 M694V mutation in Armenian-Americans: 

A ten-year retrospective study of MEFV mutations 

testing for familial Mediterranean fever at UCLA. 

F. S. Ong, H. Vakil, Y. Xue, K. H. Shah, J. Z. Kuo, K. E. 

Bernstein, D. L. Rimoin, J. I. Rotter, J. L. Deignan, K. 

Das, W. W. Grody. 

131/12:15 Clinical features of individuals with 

Floating-Harbor syndrome due to mutations in 

SRCAP. S. M. Nikkel, A. Dauber, R. L. Hood, M. 

Feingold, M. Connolly, M. J. M. Nowaczyk, S. M. 

White, A. Afenjar, F. Brancati, I. Cordeiro, A. Destrée, 

F. Forzano, E. M. Honey, D. Héron, C. M. Jacob, S. 

G. Kant, U. Kini, E. Kirk, E. Lemos Silveira-Lucas, L. 

Silveira Lucas, L. Audi Delaney, B. Santos da Cunha, 

V. Mericq, K. Pope, S. Price, J. M. Wit, D. E. Bulman, 

K. M. Boycott, FORGE Canada Consortium. 

132/12:30 A prospective natural history study of 

DICER1-related familial pleuropulmonary blastoma 

syndrome shows incomplete penetrance, pleiotropy 

and variable expressivity. D. R. Stewart, L. Doros, 

G. Glenn, A. Bauer, G. Williams, A. Carr, J. Ivanovich, 

R. Kase, L. Harney, K. A. Schultz, C. P. Kratz, L. P. 

Dehner, D. A. Hill, Y. Messinger. 


10:30 AM–12:45 PM 



SESSION 34 – Cancer Genetics II: Clinical Translation 


Moderators: Robert Pilarski, The Ohio State Univ.; 

Stephen Thibodeau, Mayo Clin. 

133/10:30 Clinical implementation of a cancer care 

model based on comprehensive molecular profiling 

of tumor-normal pairs. J. C. Taylor, K. Kaur, S. 

Henderson, E. Domingo, A. Cutts, J. Woods, C. 

Motley, B. Dougherty, M. Middleton, B. Hassan, Y. 

Wang, E. Beasley, M. Naley, I. Tomlinson, A. Schuh, 

TSB LifeTech Consortium. 

134/10:45 Clinical implementation of single 

nucleotide polymorphism microarrays in pediatric 

cancer and non-malignant hematologic disorders. 

X. Lu, Y. Zhao, S. Gurusiddappa, C. Lau, J. Shohet, 

P. Rao, K. Rabin, S. E. Plon. 

135/11:00 A prospective clinical trial to evaluate 

DNA sequencing as a diagnostic tool to guide 

cancer therapy. A. M. K. Brown, P. L. Bedard, B. Tran, 

J. Dancey, E. Winquist, S. J. Hotte, G. Goss, S. Welch, 

T. Zhang, L. Stein, V. Ferretti, S. Watt, W. Jiao, K. Ng, 

P. Shaw, B. G. Neel, T. J. Hudson, J. D. McPherson, S. 

Kamel-Reid, L. Siu. 

136/11:15 Whole genome sequencing of a highly 

aggressive melanoma identified BRAFL597 

mutants associated with sensitivity to MEK 

inhibitors. Z. Zhao, K. B. Dahlman, J. Xia, H. 

Hutchinson, C. Ng, D. Hucks, P. Jia, M. Atefi, Z. Su, 

S. Branch, P. Lyle, D. J. Hicks, V. Bozon, J. A. Glaspy, 

J. L. Netterville, C. L. Vnencak-Jones, J. Sosman, 

A. Ribas, W. Pao. 

137/11:30 Identification of novel mechanisms of 

drug resistance in BRCA1-deficient cancer by 

exome and RNA sequencing. K. K. Dhillon, 

T. Taniguchi. 

138/11:45 BRCA1 and BRCA2 mutational spectrum 

in a normal population: Implications for clinical 

diagnostics and incidental findings. E. Ruark, K. 

W. Lau, A. Renwick, E. Ramsay, F. Zhang, S. Seal, N. 

Rahman. 

139/12:00 Targeted re-sequencing of 10 ovarian 

cancer candidate genes in 2,240 cases and 355 

controls. H. Song, M. Cieck, J. Cunningham, B. 

Fridley, E. Dicks, P. Harrington, S. Ramus, S. Gayther, 

E. Goode, P. Pharoah. 

140/12:15 Enhanced detection of low-level mosaic 

mutations in RB1 gene in sporadic unilateral RB by 

ion torrent semiconductor sequencing: Risk of 

second cancer. Z. Chen, S. Walther, K. Moran, 

D. Gerhart, T. Ganguly, A. Ganguly. 



10:30 AM–12:45 PM 



141/12:30 Risk of colorectal cancer for monoallelic 

and biallelic MUTYH mutation carriers. A. K. Win, S. 

P. Cleary, J. G. Dowty, D. D. Buchanan, J. P. Young, N. 

M. Lindor, R. W. Haile, P. A. Newcomb, L. Marchand, 

J. L. Hopper, S. Gallinger, M. A. Jenkins, Colon Cancer 

Family Registry. 



10:30 AM–12:45 PM 



SESSION 35 – Ethical, Legal, Social and Policy Issues 


Moderators: Maureen Smith, Northwestern Univ.; Neil 

Lamb, HudsonAlpha Inst. for Biotechnol., Huntsville, 

AL 

142/10:30 Newborn screening for cystic fibrosis: 

Preliminary results on the false positive experience. 

C. J. Barg, F. A. Miller, R. Z. Hayeems, P. Durie, J. C. 

Carroll, P. Chakraborty, B. K. Potter, Y. Bombard, K. 

Tam, L. Taylor, E. Kerr, C. Davies, J. Milburn, F. Ratjen, 

A. Guttmann. 

143/10:45 Conflicting views on newborn and infant 

genetic screening: Perspectives of relatives of 

children with genetic conditions causing 

developmental delay and parents of healthy 

children. S. A. Metcalfe, A. D. Archibald, A. L. 

Atkinson, C. Hickerton, S. Lawton, B. J. McClaren, 

S. H. Wong. 

144/11:00 Do research participants really want to 

know? The Seattle Colorectal Cancer Family 

Registry experience on the return of research 

genetic test results. M. Laurino, D. Fisher, W. Grady, 

P. Newcomb. 

145/11:15 The student-athletes’ knowledge of 

sickle cell trait and the impact of mandatory 

genetic testing. N. Lovick, L. Mar, M. Treadwell, 

J. Youngblom, C. Hartshorne. 

146/11:30 Impact of direct-to-consumer 

pharmacogenomic testing. C. S. Bloss, N. J. Schork, 

E. J. Topol. 

147/11:45 Impact of genomic risk for type 2 

diabetes on health behaviors. S. B. Haga, W. Barry, 

R. Mills, J. Sullivan, H. F. Willard, L. P. Svetkey, 

G. S. Ginsburg. 

148/12:00 African American attitudes toward exome 

and whole genome sequencing. J. Yu, J. Crouch, 

S. M. Jamal, H. K. Tabor, M. J. Bamshad. 

149/12:15 Personalized health literacy in the age of 

personalized medicine: Results from a deliberative 

public engagement exercise. B. J. Wilson, J. C. 

Carroll, S. G. Nicholls, S. M. Craigie, H. Etchegary, 

D. Castle, B. K. Potter, J. Little, L. Lemyre on behalf of 

Emerging Team in Genomics in Screening. 

150/12:30 Dynamics, definitions and discrepancies: 

Public perspectives on the systematic collection 

and use of family health history in routine health 

care. H. Etchegary, B. J. Wilson, S. M. Craigie, S. G. 

Nicholls, D. Castle, J. C. Carroll, J. Allanson, B. K. 

Potter, P. Chakraborty on behalf of CIHR Emerging 

Team in Genomics in Screening. 





10:30 AM–12:45 PM 



SESSION 36 – Chipping Away at Autoimmune Disease 


Moderators: Judy H. Cho, Yale Univ.; Soumya 

Raychaudhuri, Brigham and Women’s Hosp. 

151/10:30 Immunochip: Redefining the genetic 

architecture of multiple sclerosis. J. McCauley, 

International Multiple Sclerosis Genetics Consortium. 

152/10:45 Dense genotyping of candidate genes 

indentifies 16 new susceptibility loci in ankylosing 

spondylitis. A. Cortes, P. C. Robinson, P. Leo, D. M. 

David, M. A. Brown, International Genetics of 

Ankylosing Spondylitis and Wellcome Trust Case 

Control Consortia. 

153/11:00 Dense fine-mapping study identifies 

novel disease loci and implicates coding and 

non-coding variation in primary biliary cirrhosis 

risk. J. Z. Liu, M. A. Almarri, D. J. Gaffney, G. F. 

Mells, L. Jostins, H. J. Cordell, S. Ducker, D. Day, 

M. A. Heneghan, J. M. Neuberger, P. T. Donaldson, 

A. Bathgate, A. Burroughs, M. Davies, D. E. Jones, 

G. J. Alexander, J. C. Barrett, R. N. Sandford, C. A. 

Anderson, UK PBC Consortium and Wellcome Trust 

Case Control Consortium 3. 

154/11:15 Fifteen novel psoriasis susceptibility loci: 

Disease-specific signals highlight the role of innate 

immunity. L. C. Tsoi, S. L. Spain, J. Knight, E. 

Ellinghaus, P. E. Stuart, F. Capon, J. Ding, Y. Li, T. 

Tejasvi, J. E. Gudjonsson, H. M. Kang, A. M. Bowcock, 

U. Mrowietz, S. Koks, T. Esko, J. J. Voorhees, M. 

Weichenthal, P. Rahman, D. Gladman, C. E. M. 

Griffiths, A. Reis, J. Kere, R. P. Nair, A. Franke, J. N. W. 

N. Barker, G. R. Abecasis, J. T. Elder, R. C. Trembath, 

Genetic Analysis of Psoriasis Consortium, Wellcome 

Trust Case Control Consortium 2. 

155/11:30 MHC fine-mapping in celiac disease 

reveals structural basis of HLA-gluten interaction. 

J. Gutierrez-Achury, G. Trynka, K. A. Hunt, J. 

Romanos, D. van Heel, C. Wijmenga, P. I. W. de 

Bakker. 

156/11:45 Host-microbe interactions shape genetic 

risk for inflammatory bowel disease. J. Barrett, 

International IBD Genetics Consortium. 

157/12:00 Sequencing-based and multiplatform 

genome-wide association study for multiple 

sclerosis and type 1 diabetes in Sardinians. I. Zara, 

E. Porcu, M. Zoledziewska, M. Pitzalis, M. Valentini, 

A. Mulas, F. Busonero, R. Atzeni, M. Oppo, F. Reinier, 

R. Berutti, R. Pilu, F. Deidda, C. Sidore, R. Piras, A. Loi, 

S. Sanna, E. Cocco, F. Poddie, G. Farina, G. Rosati, 

L. Lianas, G. Cuccuru, G. Zanetti, A. Angius, M. G. 

Marrosu, C. M. Jones, G. R. Abecasis, S. Sanna, 

F. Cucca. 

158/12:15 Admixture mapping for asthma in Latinos 

identifies additional heritable risk factors from 

genome-wide meta-analysis data. C. R. Gignoux, 

D. G. Torgerson, J. M. Galanter, L. A. Roth, C. Eng, 

D. Hu, S. Huntsman, R. D. Hernandez, R. A. Mathias, 

S. Sen, K. C. Barnes, E. G. Burchard. 

159/12:30 Deep exome sequencing of psoriasis 

identified new association signals contribute by 

INDELs, CNVs and rare SNPs. X. Jin, H. Tang, H. 

Jiang, D. Cao, H. Shao, Q. Li, J. Shen, L. Song, Y. Shi, 

J. Mei, X. Yang, L. Coin, Y. Li, X. Zhang, J. Wang. 



10:30 AM–12:45 PM 



SESSION 37 – Metabolic Disease Discoveries 


Moderators: Kimberly Chapman, Children’s Natl. Med. 

Ctr.; Hans Andersson, Tulane Univ. Med. Ctr. 

160/10:30 Mutations in DDHD2 cause recessive 

spastic paraplegia with intellectual disability, thin 

corpus callosum and periventricular white matter 

hyperintensities. A. P. M. de Brouwer, J. H. M. 

Schuurs-Hoeijmakers, E. J. Kamsteeg, S. Ben-Salem, 

S. T. de Bot, I. van de Vondervoort, S. Vermeer, J. 

Schwartzentruber, B. R. Ali, S. A. Al-Yahyaee, S. Tariq, 

T. Pramathan, R. Bayoumi, B. P. van de Warrenburg, 

W. M. van den Akker, C. Gilissen, J. A. Veltman, I. M. 

Janssen, A. T. Vulto-van Silfhout, S. van der Velde- 

Visser, A. Diekstra, C. E. Erasmus, M. A. Willemsen, 

L. E. L. M. Vissers, H. van Bokhoven, R. A. Wevers, 

L. Al-Gazali, M. T. Geraghty, B. B. A. de Vries. 

161/10:45 Lipidomics of Gaucher disease: 

Substrate composition and nature is dependent on 

tissue/region and acid �-glucosidase mutations: 

Phenotypic implications. Y. Sun, W. Zhang, Y. Xu, 

B. Quinn, N. Dasgupta, B. Liou, K. D. R. Setchell, 

G. A. Grabowski. 

162/11:00 Sterol precursors induce Niemann-Pick C 

disease phenotypes in Smith-Lemli-Opitz syndrome 

causing defective LDL-cholesterol utilization that 

is corrected by imino-sugars. C. A. Wassif, E. Lloyd- 

Evans, L. J. Haslett, I. M. Williams, C. L. Toth, F. D. 

Porter, F. M. Platt. 

163/11:15 Glucose kinetics in subjects with MELAS 

syndrome: Interim results. L. Emrick, A. El-Hattab, 

J. Hsu, F. Jarhoor, F. Scaglia, W. Craigen. 

164/11:30 Phenylbutyrate therapy for pyruvate 

dehydrogenase complex deficiency. R. Ferriero, 

E. Lamantea, P. W. Stacpoole, L. Bonafè, B. Lee, 

M. Zeviani, N. Brunetti-Pierri. 

165/11:45 Etiologies for neurocognitive delays in 

argininosuccinic aciduria. A. Erez, S. Nagamani, P. 

Campeau, O. Shchelochkov, J. Kho, K. Bissig, Q. Sun, 

N. Bryan, S. Cederbaum, B. Lee. 

166/12:00 Enzyme substitution therapy for 

phenylketonuria delivered orally using a genetically 

modified probiotic: Proof of principle. 

J. Christodoulou, N. Al-Hafid, X.-Z. Tong, K. Carpenter, 

V. Wiley, S. Cunningham, I. E. Alexander. 

167/12:15 A new inborn error of manganese 

metabolism caused by mutations in SLC30A10, 

a newly identified human manganese transporter. 

K. Tuschl, P. T. Clayton, S. M. Gospe, Jr., S. Gulab, S. 

Ibrahim, P. Singhi, R. T. Ribeiro, M. S. Zaki, M. Luz del 

Rosario, S. Dyack, V. Price, R. A. Wevers, P. B. Mills. 


168/12:30 Combined methylmalonic acidemia and 

homocystinuria, cblC type: A prospective clinical 

protocol focusing on neurologic and 

neurodevelopmental parameters in a cohort of preschool 

children diagnosed on expanded newborn 

screening. J. D. Weisfeld-Adams, H. A. Bender, A. M. 

Akerstedt, E. Miles-Mason, T. P. Naidich, S. Lipson, 

T. Bottiglieri, S. P. Young, G. A. Diaz. 





4:30 PM–6:45 PM 


Session C (38-46) 

SESSION 38 – A Sequencing Jamboree: Exomes to 

Genomes 


Moderators: Nancy Cox, Univ. of Chicago; Orli Bahcall, 

Nature Genetics 

169/4:30 Whole-exome sequencing of 10,000 type 

2 diabetes cases and controls from five major 

ancestry groups. T. M. Teslovich, A. P. Morris, P. 

Fontanillas, M. A. Rivas, X. Sim, J. Flannick, N. Burtt, 

H. Chen, A. G. Day-Williams, A. Mahajan, G. Atzmon, 

P. Cingolani, L. Moutsianas, H. M. Highland, T2D- 

GENES Consortium. 

170/4:45 Rare and low frequency coding variants 

are associated with LDL cholesterol levels: 

Findings from the NHLBI Exome Sequencing 

Project. L. A. Lange, Y. Hu, C. Xue, Z. Tang, C. Bizon, 

E. M. Lange, J. D. Smith, E. H. Turner, G. Jun, H.-M. 

Kang, K. P. Li, G. M. Peloso, C. L. Wassel, A. P. 

Reiner, E. Boerwinkle, B. M. Psaty, C. J. O’Donnell, S. 

Kathiresan, K. E. North, D. Lin, G. P. Jarvik, L. A. 

Cupples, C. Kooperberg, J. G. Wilson, D. A. 

Nickerson, G. R. Abecasis, S. S. Rich, R. P. Tracy, C. J. 

Willer on behalf of NHLBI Exome Sequencing Project. 

171/5:00 Exome sequencing of extreme phenotypes 

identifies DCTN4 and CAV2 as modifiers of chronic 

Pseudomonas aeruginosai nfection in cystic 

fibrosis. M. J. Emond, T. Louie, J. Emerson, S. 

McNamara, W. Zhao, R. A. Mathias, M. R. Knowles, F. 

A. Wright, M. J. Reider, H. K. Tabor, D. A. Nickerson, K. 

C. Barnes, R. L. Gibson, M. J. Bamshad. 

172/5:15 A high resolution study of type 2 diabetes 

genetic architecture through whole-genome 

sequencing of 2850 European individuals: The 

GoT2D Study. J. Flannick, C. Fuchsberger, K. J. 

Gaulton, N. P. Burtt, H. M. Kang, C. Hartl, R. D. 

Pearson, GoT2D Consortium. 

173/5:30 Mapping quantitative traits with integrated 

whole exome/genome/array panel in individuals of 

European descent. X. Sim, M. A. Rivas, A. K. 

Manning, A. E. Locke, C. M. Lindgren, GoT2D 

Consortium. 

174/5:45 Whole genome sequence analyses 

describe the genetic architecture of complex 

traits: The Cohorts for Heart and Aging Research 

in Genetic Epidemiology Consortium. A. C. 

Morrison, A. Voorman, A. D. Johnson, X. Liu, J. Yu, 

A. Li, D. Muzny, F. Yu, K. Rice, G. Zhu, G. Heiss, C. 

J. O’Donnell, B. Psaty, L. A. Cupples, R. Gibbs, E. 

Boerwinkle. 

175/6:00 Genome sequencing and analysis in 

autism spectrum disorder. S. Walker, A. Prasad, 

L. Lau, B. Thiruvahindrapuram, B. Fernandez, 

R. Yuen, C. R. Marshall, E. Fombonne, W. Roberts, 

L. Zwaigenbaum, P. Szatmari, S. W. Scherer. 

176/6:15 Deep whole genome sequencing in 

pedigrees illuminates the contribution of low 

frequency and private mutations to the genetic 

architecture of metabolic quantitative traits. 

A. K. Manning, A. R. Wood, P. Fontanillas, G. Jun, P. 

Cingolani, M. Almeida, C. Fuchsberger, T. D. Dyer, M. 

Rivas, K. Gaulton, J. Maller, J. Curran, J. Grunstad, 

T. W. Blackwell, T. M. Teslovich, D. M. Lehman, R. 

Grossman, J. Laramie, S. E. Lincoln, M. Boehnke, M. 

I. McCarthy, T. M. Frayling, R. Sladek, R. Duggirala, J. 

Blangero, G. Abecasis, D. Altshuler, T2D-GENES. 

177/6:30 Whole genome sequencing of 2,100 

individuals in the founder Sardinian population. 

C. Sidore, S. Sanna, A. Kwong, H. M. Kang, 

R. Cusano, M. Pitzalis, M. Zoledziewska, A. Maschio, 

F. Busonero, M. Lobina, A. Angius, R. Lyons, B. Terrier, 

C. Brennan, R. Atzeni, A. Mulas, M. Dei, M. G. Piras, 

S. Lai, F. Reinier, R. Berutti, C. Jones, M. Marcelli, M. 

Urru, M. Oppo, D. Schlessinger, G. Abecasis, F. Cucca. 



4:30 PM–6:45 PM 



SESSION 39 – Admixture and Demography 


Center 

Moderators: Katarzyna Bryc, Harvard Univ.; John 

Novembre, UCLA 

178/4:30 Differential relatedness of African 

Americans to populations within West Africa. 

K. Bryc, A. Williams, N. Patterson, S. Musani, 

M. Sale, W. Chen, J. Divers, M. Ng, D. W. Bowden, 

J. G. Wilson, D. Reich. 

179/4:45 Fine scale population genetic structure 

of African Americans. E. Y. Durand, M. Macpherson, 

B. T. Naughton, J. Mountain, C. B. Do. 

180/5:00 A model-based approach for analysis of 

spatial structure in genetic data. W. Yang, 

J. Novembre, E. Eskin, E. Halperin. 

181/5:15 People of the British Isles: An analysis of 

the genetic contributions of European populations 

to a UK control population. S. Leslie, B. Winney, 

G. Hellenthal, S. Myers, P. Donnelly, W. Bodmer. 

182/5:30 The applicability of the Balding-Nichols 

model to a dataset of over 100,000 Brazilian 

individuals. R. V. Rohlfs, A. Bhaskar, V. R. C. Aguiar, 

K. Lohmueller, A. M. Castro, A. C. S. Ferreira, F. S. V. 

Malta, Y. Song, I. D. Louro, R. Nielsen. 

183/5:45 Rare genetic variants in deep sequencing 

of neutral regions from a homogeneous population 

refine models of recent explosive human 

population growth. A. Keinan, E. Gazave, A. 

Coventry, S. Gottipati, D. Chang, L. Ma, D. Muzny, 

E. Boerwinkle, C. Sing, R. Gibbs, A. Clark. 

184/6:00 Estimating human population sizes using 

the coalescent with recombination. S. Sheehan, 

K. Harris, Y. S. Song. 

185/6:15 Reconstructing historical contributions 

to modern gene pools using the sequentially 

Markovian coalescent conditional sampling 

distribution. A. Platt, J. Novembre. 

186/6:30 On the Sardinian ancestry of the Tyrolean 

Iceman. M. Sikora, M. Carpenter, A. Moreno-Estrada, 

B. M. Henn, P. A. Underhill, I. Zara, M. Pitzalis, 

C. Sidore, F. Reinier, M. Marcelli, A. Angius, C. Jones, 

T. T. Harkins, A. Keller, A. Zink, G. Abecasis, S. Sanna, 

F. Cucca, C. D. Bustamante. 



4:30 PM–6:45 PM 



SESSION 40 – Analysis of Multilocus Systems 


Moderators: Brendan Keating, Univ. of Pennsylvania; 

Laura Almasy, Texas Biomed. Res. Inst., San Antonio 

187/4:30 Gene-based epistasis analysis in genomewide 

association studies. L. Ma, A. Brautbar, 

E. Boerwinkle, C. F. Sing, A. G. Clark, A. Keinan. 

188/4:45 Building human phenotype networks from 

shared genetic risk variants. C. Darabos, K. Desai, 

M. Giacobini, M. Lupien, J. H. Moore. 

189/5:00 Incorporating network dynamics to 

prioritize genes through genome-wide association 

studies. L. Hou, M. Chen, C. K. Zhang, J. Cho, 

H. Zhao. 

190/5:15 Large-scale multi-phenotype metaanalysis 

evaluates pleiotropic effects at FADS1 and 

GIPR loci. V. Lagou, R. Mägi, K. Fischer, M. Akerlund, 

I. Surakka, M. Kaakinen, J. S. Ried, A. Mahajan, M. 

Horikoshi, L. Marullo, K. Strauch, C. Gieger, S. Ripatti, 

A. P. Morris, V. Lyssenko, I. Prokopenko for ENGAGE 

(European Network for Genetic and Genomic 

Epidemiology) Consortium. 

191/5:30 Building and assessing protein-protein 

interaction networks from genome-wide 

association results in cancer. L. T. Hiraki, A. D. Joshi, 

S. Lindstrom, A. T. Chan, S. Chanock, P. Kraft. 

192/5:45 A smoothed functional principal 

component analysis for pathway analysis with 

next-generation sequencing data. J. Zhao, Y. Zhu, 

E. Boerwinkle, M. Xiong. 

193/6:00 Variants in exons and in transcription 

factors affect gene expression in trans. A. Kreimer, 

I. Pe’er. 

194/6:15 The continuation of theory by other 

means: ForSim as a forward simulator for improved 

understanding of the genetic architecture of 

complex traits and its evolution. K. M. Weiss, J. H. 

Lee, J. D. Terwilliger, B. W. Lambert. 

195/6:30 Incorporating phylogenetic conservation 

and pedigree information in tests of rare-variant 

association. H. Hu, C. D. Huff, H. Coon, S. Guthery, 

S. V. Tavtigian, J. C. Roach, Z. Kronenberg, J. Xing, 

A. F. A. Smit, G. Glusman, A. K. Holloway, V. Garg, 

B. Moore, R. Hubley, W. S. Watkins, H. Li, S. Z. 

Montsaroff, D. E. Abbott, L. E. Hood, K. S. Pollard, 

D. J. Galas, D. Srivastava, M. G. Reese, L. B. Jorde, 

M. Yandell. 





4:30 PM–6:45 PM 



SESSION 41 – Genes Underlying Neurological Disease 


Moderators: Stylianos Antonarakis, Univ. of Geneva 

Med. Sch.; Laurie Ozelius, Mount Sinai Med. Sch. 

196/4:30 TMTC4: A novel candidate gene for 

callosal development. L. Fernandez, J. Li, M. 

Wakahiro, E. Rider, T. Bartman, E. Sherr. 

197/4:45 CLK2 missense mutation in a family with 

pontocerebellar hypoplasia type 7. V. R. C. Eggens, 

Y. Namavar, M. A. Haagmans, K. Fluiter, E. J. Bradley, 

P. G. Barth, B. T. Poll-The, F. Baas. 

198/5:00 Missense mutations in ITPR1 cause 

autosomal dominant congenital nonprogressive 

spinocerebellar ataxia. J. Warman Chardon, L. 

Huang, M. Carter, K. Friend, T. Dudding, J. 

Schwartzentruber, R. Zou, P. Schofield, S. Douglas, 

D. Bulman, K. Boycott. 

199/5:15 VPS37A causes a novel form of complex 

hereditary spastic paraparesis. T. Falik-Zaccai, Y. 

Zivony-Elboum, W. Westbroek, D. Savitzki, Y. Shoval, 

Y. Anikster, A. Waters, R. Kleta. 

200/5:30 Genome-wide association study identifies 

two novel susceptibility loci for musician’s 

dystonia. K. Lohmann, A. Schmidt, A. Schillert, S. 

Winkler, K. Siegesmund, H.-C. Jabusch, M. Kasten, 

J. L. Groen, C. Hemmelmann, J. Hagenah, J. Graf, 

N. Brüggemann, A. Grünewald, F. Baas, A. Münchau, 

K. E. Zeuner, S. Schreiber, G. Deuschl, M. A. J. de 

Koning-Tijssen, E. Altenmüller, A. Ziegler, C. Klein. 

201/5:45 Autosomal recessive axonal neuropathy 

with neuromyotonia: A novel disease entity 

caused by mutations in HINT1. J. Baets, M. Zimon, 

L. Almeida-Souza, J. Nikodinovic, Y. Parman, E. 

Battaloglu, V. Guergueltcheva, I. Tournev, M. Auer- 

Grumbach, T. Müller, P. Van Damme, W. N. Löscher, 

N. Barisic, Z. Mitrovic, S. C. Previtali, H. Topaloglu, 

G. Bernert, A. Beleza-Meireles, S. Todorovic, 

B. Ishpekova, K. Peeters, A. F. Hahn, S. Züchner, 

V. Timmerman, V. Milic Rasic, A. R. Janecke, 

A. Jordanova, P. De Jonghe. 

202/6:00 De novo gain of function KCNT1 channel 

mutations cause seizures and developmental delay 

in malignant migrating partial seizures of infancy. 

G. Barcia, M. R. Fleming, A. Deligniere, V. Gazula, 

M. R. Brown, M. Langouet, H. Chen, J. Kronengold, 

A. Abhyankar, R. Cilio, P. Nitschke, A. Kaminska, N. 

Boddaert, J. L. Casanova, I. Desguerre, A. Munnich, 

O. Dulac, L. K. Kaczmarek, L. Colleaux, R. Nabbout. 

203/6:15 Investigating the genetic etiology of 

familial epilepsies using next-generation 

sequencing. E. K. Ruzzo, E. L. Heinzen, R. Wedel, 

K. V. Shianna, I. E. Scheffer, S. F. Berkovic, R. Ottman, 

D. B. Goldstein. 

204/6:30 Autoregulation of the DYT6-gene THAP1. 

A. Erogullari, P. Seibler, D. Braunholz, A. Grünewald, 

R. Depping, J. Eckhold, A. Rakovic, T. Lohnau, G. 

Gillessen-Kaesbach, C. Klein, K. Lohmann, F. J. Kaiser. 



4:30 PM–6:45 PM 



SESSION 42 – Cancer Genetics III: Common Variants 


Center 

Moderators: Kathleen Cooney, Univ. of Michigan; 

Meredith Yeager, NCI/NIH 

205/4:30 Identification of 23 novel prostate cancer 

susceptibility loci using a custom array (the iCOGS) 

in an international consortium, PRACTICAL. R. 

Eeles, A. Amin Al Olama, S. Benlloch, E. Saunders, D. 

Leongamornlert, M. Tymrakiewicz, M. Ghoussaini, C. 

Luccarini, J. Dennis, S. Jugurnauth-Little, T. Dadaev, 

PROTECT Group, G. Giles, G. Severi, F. Wiklund, H. 

Gronberg, C. Haiman, F. Schumacher, B. Henderson, 

L. Le Marchand, S. Lindstrom, P. Kraft, D. Hunter, 

S. Gapstur, S. Chanock, S. Berndt, PRACTICAL 

Consortium, Z. Kote-Jarai, D. Easton. 

206/4:45 Large-scale genotyping identifies more 

than 40 novel breast cancer susceptibility loci. K. 

Michailidou, P. Hall, A. Gonzalez-Neira, M. Ghoussaini, 

J. Dennis, R. L. Milne, M. K. Schmidt, J. Chang- 

Claude, S. E. Bojesen, M. K. Humphreys, Q. Wang, M. 

Garcia-Closas, P. D. P. Pharoah, G. Chenevix-Trench, 

A. M. Dunning, J. Benitez, D. F. Easton, Breast Cancer 

Association Consortium. 

207/5:00 Genome-wide association study in BRCA1 

mutation carriers identifies novel loci associated 

with breast and ovarian cancer risk. A. C. Antoniou, 

X. Wang, L. McGuffog, A. Lee, M. M. Guedet, K. B. 

Kuchenbaecker, P. Soucy, J. Simard, K. Offit, D. F. 

Easton, G. Chenevix-Trench, F. J. Couch, Consortium 

of Investigators of Modifiers of BRCA1/2. 

208/5:15 Identification of the first locus to modify 

breast cancer risk specifically in BRCA2 mutation 

carriers. K. Kuchenbaecker, M. Gaudet, J. Vijai, 

R. Klein, T. Kirchhoff, L. McGuffog, D. Barrowdale, 

A. Dunning, A. Lee, P. Hall, F. Couch, J. Simard, D. 

Altshuler, D. Easton, G. Chenevix-Trench, A. Antoniou, 

K. Offit, Consortium of Investigators of Modifiers of 

BRCA1/2 (CIMBA) Collaborators. 

209/5:30 Fine-scale mapping and functional 

analysis of the breast cancer 11q13 (CCND1) locus. 

M. Ghoussaini, K. B. Meyer, S. Edwards, J. D. French, 

K. Michailidou, S. Ahmed, S. Khan, M. J. Maranian, 

C. S. Healey, P. D. P. Pharoah, H. Nevanlinna, 

M. A. Brown, G. Chenevix-Trench, D. F. Easton, 

A. M. Dunning, BCAC. 


210/5:45 Three independent loci within the TERT- 

CLPTM1L locus associated with telomere length 

and risk of breast and ovarian cancer. G. Chenevix- 

Trench, S. E. Bojesen, K. A. Pooley, S. Johnatty, 

J. Beesley, K. Michailidou, J. Tyrer, S. L. Edwards, 

H. C. Shen, K. Lawrenson, H. Pickett, M. Stutz, C. 

Smart, J. French, P. L. Mai, M. H. Greene, S. Gayther, 

R. Reddel, P. D. P. Pharoah, E. L. Goode, A. Berchuk, 

D. F. Easton, A. C. Antoniou, A. M. Dunning on behalf 

of CIMBA, OCAC and BCAC. 

211/6:00 Statistical fine mapping of regions 

containing melanoma susceptibility genes identified 

through genome-wide association studies. J. H. 

Barrett, J. C. Taylor, M. Brossard, A. M. Goldstein, 

P. A. Kanetsky, E. M. Gillanders, J. A. Newton Bishop, 

D. T. Bishop, F. Demenais, M. M. Iles, GenoMEL 

Consortium. 

212/6:15 Combining expression phenotypes with 

high density imputation to identify melanoma risk 

genes. M. H. Law, G. W. Montgomery, K. M. Brown, 

A. E. Cust, N. G. Martin, G. J. Mann, N. K. Hayward, 

S. MacGregor, Q-MEGA and AMFS Investigators. 

213/6:30 Meta-analysis identifies four new loci for 

testicular germ cell tumor. C. C. Chung, Z. Wang, 

P. A. Kanetsky, C. Turnbull, K. McGlynn, R. L. Erickson, 

M. H. Greene, M. A. T. Hildebrandt, R. I. Skotheim, 

C. Kratz, M. B. Cook, F. Schumacher, R. Koster, 

M. Yeager, K. B. Jacobs, S. M. Schwartz, D. T. Bishop, 

H. K. Gjessing, V. Cortessis, N. Rahman, X. Wu, 

S. J. Chanock, K. L. Nathanson. 





4:30 PM–6:45 PM 



SESSION 43 – Genetics of Craniofacial and 

Musculoskeletal Disorders 


Moderators: Irini Manoli, NHGRI/NIH; Siddharth 

Prakash, Univ. of Texas Hlth. Sci. Ctr. at Houston 

214/4:30 Next-generation sequencing detects 

mutations in ISPD as a common cause of Walker- 

Warburg syndrome with defective glycosylation of 

dystroglycan. T. Roscioli, E.-J. Kamsteeg, K. Buysse, 

I. Maystadt, J. van Reeuwijk, C. van den Elzen, E. 

van Beusekom, M. Riemersma, R. Pfundt, L. E. L. M. 

Vissers, M. Schraders, M. F. Buckley, H. G. Brunner, H. 

Zhou, J. A. Veltman, C. Gilissen, G. M. S. Mancini, M. 

A. Willemsen, D. Petkovi Ramada, D. Chitayat, C. 

Bennett, E. Sheridan, E. A. J. Peeters, G. M. B. Tan- 

Sindhunata, H. Kayserili, O. Abd El-Fattah El-Hashash, 

D. L. Stemple, D. J. Lefeber, Y.-Y. Lin, H. van 

Bokhoven. 

215/4:45 The identification of a novel gene 

identified by exome sequencing reveals the 

upstream components of the RAS/MAPK signaling 

pathway involved in Noonan syndrome. H. Yntema, 

W. Nillesen, J. Paardekooper Overman, M. Bonetti, 

J. de Ligt, H. Venselaar, M. Tartaglia, S. G. M. Frints, 

L. E. L. M. Vissers, J. den Hertog, I. van der Burgt. 

216/5:00 DYNC2H1 mutations are commonly 

found in Jeune asphyxating thoracic dysplasia 

(JATD) without extraskeletal features while IFT140 

mutations cause JATD with renal involvement. 

M. Schmidts, H. H. Arts, Z. Yap, E. M. H. F. Boengers, 

D. Anthony, M. M. Oud, S. Al-Turki, L. Duijkers, 

J. Stalker, J. B. Yntema, A. Hoischen, R. Bogdanovic, 

A. Peco Antic, C. Gillisen, H. Kayserili, I. Veltman, 

A. Kutkowska, E. J. Kamsteeg, R. C. M. Hennekam, 

P. Scambler, P. L. Beales, UK10K Consortium, 

N. V. A. M. Knoers, R. Roepman, H. M. Mitchison. 

217/5:15 Dominant missense mutations in 

ABCC9 cause Cantú syndrome. G. van Haaften, 

M. Harakalova, J. J. T. van Harssel, P. Terhal, S. van 

Lieshout, K. Duran, I. Renkens, D. J. Amor, L. C. 

Wilson, E. P. Kirk, C. L. S. Turner, D. Shears, S. García- 

Miñaúr, M. M. Lees, A. Ross, H. Venselaar, G. Vriend, 

H. Takanari, M. B. Rook, M. A. G. van der Heyden, 

M. E. Swinkels, I. J. Scurr, S. F. Smithson, 

N. V. Knoers, J. J. van der Smagt, I. J. Nijman, 

W. P. Kloosterman, M. M. van Haelst, E. Cuppen. 

218/5:30 Reduced dosage of ERF causes complex 

craniosynostosis in humans and mice, and links 

ERK1/2 signaling to regulation of osteogenesis. 

S. R. F. Twigg, I. Paraki, S. J. McGowan, M. Allegra, 

A. L. Fenwick, V. P. Sharma, E. Vorgia, A. Zaragkoulias, 

E. Sadighi Akha, S. J. Knight, H. Lord, T. Lester, 

L. Izatt, A. K. Lampe, S. N. Mohammed, F. J. Stewart, 

A. Verloes, L. C. Wilson, D. Johnson, S. A. Wall, 

P. Hammond, J. Hughes, S. Taylor, G. Mavrothalassitis, 

A. O. M. Wilkie. 

219/5:45 Mutations in the multidomain protein 

MEGF8 identify a new subtype of Carpenter 

syndrome associated with defective lateralization. 

D. L. Lloyd, S. R. Twigg, N. Elcioglu, D. Jenkins, C. D. 

O. Cooper, N. Akarsu, E. Taskiran, N. Al-Sannaa, A. 

Annagür, G. Gillessen-Kaesbach, I. Stefanova, S. J. L. 

Knight, J. A. Goodship, B. Keavney, P. L. Beales, O. 

Gileadi, S. McGowan, A. O. M. Wilkie. 

220/6:00 Increased frequency of FBN1 variants in 

adolescent idiopathic scoliosis. J. G. Buchan, D. A. 

Alvarado, M. C. Willing, M. B. Dobbs, C. A. Gurnett. 

221/6:15 Exome sequencing in idiopathic scoliosis 

reveals rare variants in VANGL, a planar cell 

polarity gene involved in axial development. 

S. Sharma, J. A. Herring, X. Gao, D. Zhang, C. Wise. 

222/6:30 Recessive mutations in FKBP10, a PPIase 

known to cause type XI OI, extend the phenotype 

to a congenital contracture syndrome (Kuskokwim 

disease), and cause diminished collagen crosslinking 

in matrix. A. M. Barnes, M. Weis, W. A. 

Cabral, E. Makareeva, E. L. Mertz, W. Paton, 

G. Duncan, C. Trujillo, S. Leikin, D. R. Eyre, S. J. Bale, 

J. C. Marini. 



4:30 PM–6:45 PM 



SESSION 44 – Tools for Phenotype Analysis 


Moderators: Donna Maglott, NCBI/NIH; Gregory E. 

Crawford, Duke Univ. 

223/4:30 PRIMUS: Pedigree Reconstruction and 

Identification of the Maximum Unrelated Set. 

J. Staples, D. Nickerson, J. Below. 

224/4:45 Pharmacogenoinformatics: Novel 

approach of in silico drug designing based on 

genetic variation of MDR1 gene involved in statin 

resistance. A. Munshi, M. Sai Babu, A. Venkateswara 

Rao, A. Jyothy. 

225/5:00 A general, integrated variant prioritization 

method for rapid determination of disease causing 

mutations from next-generation sequencing data. 

B. D. O’Fallon, W. Wooderchak-Donahue, P. Bayrak- 

Toydemir. 

226/5:15 Visually integrating and exploring high 

throughput phenome-wide association (PheWAS) 

results using PheWAS-view and PhenoGram. S. A. 

Pendergrass, S. Dudek, D. C. Crawford, M. D. Ritchie. 

227/5:30 PhenoDB: A new web-based tool for the 

collection, storage and analysis of phenotypic 

features. A. Hamosh, J. Hoover-Fong, V. R. Sutton, 

N. Sobreira, C. Boehm, F. Schiettecatte, D. Valle. 

228/5:45 A novel metabolomics analysis workflow 

provides new biological insights into the genetic 

basis of human metabolic variation. H. Dharuri, 

P. Henneman, D. O. Mook-Kanamori, K. Suhre, 

K. Willems van Dijk, P. A. C. `t Hoen. 

229/6:00 Integration of large-scale gene annotation, 

electronic medical records, and incidence data to 

produce phenotype-specific posterior probabilities 

to aid interpretation of genome-wide variant data. 

I. M. Campbell, S. W. Cheung, A. Patel, S. R. Lalani, P. 

Stankiewicz, M. B. Ramocki, J. R. Lupski, C. A. Shaw. 



and Aging: CREX, computerized methodology to 

identify health conditions using the EMR for GWAS. 

S. Sciortino, L. Walter, D. Ranatunga, L. Shen, D. 

Ludwig, J. Kay, L. Sakoda, N. Risch, C. Schaefer. 

231/6:30 An informatics approach to analyzing the 

incidentalome. M. C. Adams, J. S. Berg, N. Nassar, 

C. Bizon, K. Lee, C. P. Schmitt, K. C. Wilhelmsen, 

J. P. Evans. 



4:30 PM–6:45 PM 



SESSION 45 – Therapy of Genetic Disorders 


Moderators: Cynthia J.R. Curry, UCSF; Brunhilde 

Wirth, Univ. of Cologne, Germany 

232/4:30 Pathogenic exon-trapping by SVA 

retrotransposon and rescue in Fukuyama muscular 

dystrophy. M. Taniguchi, K. Kobayashi, M. Kanagawa, 

C. C. Yu, T. Oda, A. Kuga, H. Kurahashi, H. O. Akmen, 

S. DiMauro, T. Yokota, S. Takeda, T. Toda. 

233/4:45 Hematopoietic stem cell transplantation 

for adolescent and adult onset cerebral X-linked 

adrenoleukodystrophy. T. Matsukawa, T. Yamamoto, 

S. Seo, K. Kumano, M. Ichikawa, Y. Takahashi, H. 

Ishiura, J. Mitsui, M. Tanaka, J. Goto, M. Kurokawa, 

S. Tsuji. 

234/5:00 Treating Pelizaeus-Merzbacher disease 

with clinically applicable compounds, curcumin 

and chloroquine: Preclinical studies. K. Inoue, 

T. Morimura, Y. Numata, L.-H. Yu, L. Gotoh, R. 

Yamamoto, N. Inoue, B. Antalfy, K. Deguchi, H. Osaka, 

Y. Goto. 

235/5:15 Systemic L-threo-dihydroxyphenylserine 

corrects neurochemical abnormalities in a mouse 

model of Menkes disease. S. Kaler, A. Donsante, P. 

Sullivan, D. Goldstein, C. Holmes. 

236/5:30 Response to VPA therapy in SMA 

patients is concordant from blood to neurons and 

influenced by CD36. B. Wirth, L. Heesen, I. Hölker, 

T. Bauer, J. Schreml, K. Zimmermann, M. Thoenes, 

M. Walter, J. Dimos, M. Peitz, O. Brüstle, R. Heller, 

L. Garbes. 

237/5:45 Melatonin, a new biomarker reflecting 

brain serotonin metabolism in individuals with 

phenylketonuria: Evaluation of large neutral 

amino acid therapy by a randomized, double-blind 

crossover study. S. Yano, K. Moseley, C. Azen. 

238/6:00 Beyond cholesterol: Antioxidant treatment 

for patients with Smith-Lemli-Opitz syndrome. 

E. Elias, R. Braverman, S. Tong. 

239/6:15 Positive effects of short course androgen 

therapy on the neurodevelopmental outcome 

in boys with 47, XXY syndrome at 36 and 72 

months of age. C. Samango-Sprouse, E. Stapleton, 

T. Sadeghin, F. Mitchell, T. Dixon, M. Kingery, A. 

Gropman. 

240/6:30 A mechanism and treatment strategy for 

pregnancy-associated aortic dissection in Marfan 

syndrome. J. P. Habashi, N. Huso, D. Bedja, G. Rykiel, 

J. J. Doyle, H. C. Dietz. 





4:30 PM–6:45 PM 



SESSION 46 – Pharmacogenetics: From Discovery to 

Implementation 


Moderators: Toni Pollin, Univ. of Maryland Sch. of 

Med.; Edward Ramos, NHGRI/NIH 

241/4:30 Pharmacogenomics, ancestry and clinical 

decision making for global populations. E. Ramos, 

A. Doumatey, H. Huang, D. Shriner, G. Chen, S. Callier, 

J. Zhou, A. Adeyemo, H. Mcleod, C. Rotimi. 

242/4:45 Cell line profiling in oncology (CELLO) as a 

discovery platform for systematic identification of 

genetic and genomic biomarkers of drug 

sensitivity. J. Zhong, H. Niu, J. Cai, S. Middleton, H. 

Bian, J. Hakenberg, C. Saisanit, F. Birzele, W. 

Berkofsky-Fessler, J. Rosinski, N. Sanapareddy, Z. 

Albertyn, B. Chen, S. Bader, G. Chen, M. Xia, L. 

Vassilev, A. Belousov, L. Essioux. 

243/5:00 Screening of the TPMT gene before 

thiopurine treatment results in a lower leucopenia 

occurrence in patient with inflammatory bowel 

disease. M. J. H. Coenen, C. J. van Marrewijk, L. J. 

J. Derijks, S. H. Vermeulen, O. H. Klungel, A. L. M. 

Verbeek, H. Scheffer, B. Franke, H. J. Guchelaar, D. J. 

de Jong, TOPIC Study. 

244/5:15 PGRNseq: A new sequencing-based 

platform for high-throughput pharmacogenomic 

implementation and discovery. A. S. Gordon, J. D. 

Smith, Q. Xiang, M. L. Metzker, R. A. Gibbs, E. R. 

Mardis, D. A. Nickerson, R. S. Fulton, S. E. Scherer. 

245/5:30 Genetic variation in the GRK4 gene 

associates with susceptibility to hypertension 

and response to angiotensin receptor blockade. 

M. White, Z. Wang, H. Sanada, M. Yoneda, S. M. 

Williams, J. Bartlett, L. Gordon, S. Chen, L. Asico, C. 

Escano, V. Villar, C. Zeng, L. Wong, J. Jones, R. Felder, 

G. Eisner, P. Jose. 

246/5:45 Genome-wide discovery of drugdependent 

human liver enhancers. R. P. Smith, K. 

M. Morrissey, X. Sun, T. J. Hoffman, K. M. Giacomini, 

N. Ahituv. 

247/6:00 Genome-wide association study of 

vancomycin pharmacokinetics using a de-identified 

biorepository. S. L. Van Driest, T. L. McGregor, Z. Lu, 

S. Vear, C. B. Creech, P. J. Kannankeril, K. B. Brothers, 

A. Potts, E. Bowton, J. T. Delaney, Y. Bradford, S. 

Wilson, L. Olson, D. C. Crawford, B. Saville, D. M. 

Roden, J. C. Denny. 

248/6:15 Integrating multiple levels of phenotypic 

information to map genetic determinants of 

glucocorticoid sensitivity. J. Maranville, S. Baxter, 

D. Witonsky, A. Di Rienzo. 

249/6:30 Common and rare genetic variation 

in maturity-onset diabetes of the young genes 

influence response to interventions for diabetes 

prevention. L. Billings, l. Tipton, A. Warner, J. McAteer, 

A. Shuldiner, D. Ehrmann, A. Manning, D. Dabelea, 

P. Franks, S. Kahn, T. Pollin, W. Knowler, D. Altshuler, 

K. Jablonski, J. Florez. 



8:00 AM–10:15 AM 


Session D (47-55) 

SESSION 47 – Structural and Regulatory Genomic 

Variation 


Moderators: Mike Lovett, Washington Univ. in St. 

Louis; Greg Elgar, MRC NIMR, London, U.K. 

250/8:00 Germline mosaicism does not explain the 

maternal age effect on trisomy. R. Rowsey, 

B. Murdoch, P. Hunt, C. Dickerson, T. Woodruff, 

T. Hassold. 

251/8:15 Female meiosis II errors prevalence and 

their impact on human embryo viability. A. Kuliev, 

Z. Zlatopolsky, I. Kirillova, J. Cieslak-Janzen. 

252/8:30 A population isolate reveals enriched 

recessive deleterious variants underlying 

neurodevelopmental traits. O. Pietiläinen, J. 

Suvisaari, W. Hennah, V. Leppä, T. Paunio, M. 

Torniainen, S. Ripatti, S. Ala-Mello, K. Rehnström, A. 

Tuulio-Henriksson, T. Varilo, J. Tallila, K. Kristiansson, 

M. Isohanni, J. Kaprio, J. Eriksson, M. Jarvelin, R. 

Durbin, J. Lonnqvist, M. Hurles, H. Stefansson, N. 

Freimer, M. Daly, A. Palotie. 

253/8:45 The role of trans-acting factors on 

recombination in oocytes with nondisjoined 

chromosomes 21. C. D. Middlebrooks, N. 

Mukhopadhyay, S. W. Tinker, E. G. Allen, L. J. H. Bean, 

F. Begum, R. Chowdhury, V. Cheung, E. Feingold, 

S. L. Sherman. 

254/9:00 Large-scale function-based enhancer 

discovery. D. E. Dickel, Y. Zhu, A. S. Nord, J. A. 

Akiyama, A. Visel, L. A. Pennacchio. 

255/9:15 A single enhancer on human chromosome 

11 directly controls >1,000 promoters and distal 

regulatory elements genome-wide. J . A. 

Stamatoyannopoulos, H. Wang, G. J. Cost, H. Quh, Y. 

Santago, J. Belton, R. McCord, S. Orlando, S. Neph, 

L. Zhang, T. Canfield, E. Giste, R. Sandstrom, R. S. 

Hansen, R. E. Thurman, P. D. Gregory, J. Dekker, 

F. D. Urnov. 

256/9:30 Identification of trait- and disease-relevant 

genetic polymorphisms in microRNA target sites. 

S. Busche, B. Ge, T. Kwan, K. Wong, S.-H. Chen, M. 

Georges, D. Ginzinger, T. Pastinen. 

257/9:45 Mapping functional p53 response 

elements and their variants in human genome. 

X. Wang, M. R. Campbell, V. G. Cheung, D. A. Bell. 

258/10:00 A SNP associated with skin cancer and 

pigmentation disrupts a melanocyte enhancer in an 

intron of IRF4. D. U. Gorkin, S. K. Loftus, D. Lee, 

M. A. Beer, W. J. Pavan, A. S. McCallion. 



8:00 AM–10:15 AM 



SESSION 48 – Neuropsychiatric Disorders 


Center 

Moderators: Dimitrios Avramopoulos, Johns Hopkins 

Univ.; Tatiana Foroud, Indiana Univ. Sch. of Med. 

259/8:00 Genetic and functional abnormalities of 

the melatonin biosynthesis pathway in patients 

with bipolar disorder. S. Jamain, B. Etain, A. 

Dumaine, F. Bellivier, C. Pagan, L. Francelle, H. 

Goubran-Botros, S. Moreno, J. Deshommes, K. 

Moustafa, K. Le Dudal, F. Mathieu, C. Henry, J. P. 

Kahn, J. M. Launay, T. W. Mühleisen, S. Cichon, T. 

Bourgeron, M. Leboyer. 

260/8:15 Massively-parallel sequencing of the brain 

transcriptome reveals differential expression of 

novel genes in bipolar disorder. N. Akula, J. Barb, X. 

Jiang, J. Wendland, K. Choi, S. Sen, B. K. Lipska, J. E. 

Kleinman, H. C. Bravo, D. T. Chen, P. J. Munson, F. J. 

McMahon. 

261/8:30 Rare and common gain-of-function 

alleles of the serotonin transporter gene, SLC6A4, 

associated with Tourette disorder.P. R. Moya, J. R. 

Wendland, A. M. Andrews, L. M. Rubenstein, K. R. 

Timpano, G. A. Heiman, J. A. Tischfield, R. A. King, 

S. Rammamoorthy, F. J. McMahon, D. L. Murphy. 

262/8:45 GLRB is the third major gene-of-effect in 

hyperekplexia or startle disease. S. K. Chung, A. 

Bode, C. A. Hunt, A. Derrick, T. D. Cushion, S. Wood, 

C. Drew, O. W. Howells, R. H. Thomas, J. G. Mullins, 

J. Lynch, M. I. Rees. 

263/9:00 Functional analysis of rare chimeric genes 

in schizophrenia. C. Rippey, C. Remmers, M. Cahill, 

A. Nord, T. Walsh, M. Lee, M. Gasperini, P. Penzes, J. 

McClellan, M.-C. King. 

264/9:15 Excess homozygosity in the major 

histocompatibility complex in schizophrenia. 

S. Mukherjee, S. Guha, M. Ikeda, N. Iwata, 

A. K. Malhotra, I. Pe’er, A. Darvasi, T. Lencz. 

265/9:30 Significant risk of new mutations for 

Huntington disease: CAG-size specific risk 

estimates of intermediate allele repeat instability. 

A. Semaka, C. Kay, C. Doty, J. A. Collins, 

M. R. Hayden. 

266/9:45 Mutations in AKT3 lead to 

hemimegalencephaly. A. Poduri, G. D. Evrony, X. Cai, 

P. C. Elhosary, R. Beroukhim, M. K. Lehtinen, L. B. 

Hills, E. L. Heinzen, A. Hill, R. S. Hill, B. J. Barry, 

B. F. D. Bourgeois, J. J. Riviello, A. J. Barkovich, 

P. M. Black, J. Madsen, K. L. Ligon, C. A. Walsh. 

267/10:00 De novo somatic mutations in 

components of the PI3K-AKT3-mTOR pathway 

cause hemimegalencephaly. J. Lee, M. Huynh, 

G. Mathern, J. Gleeson. 





8:00 AM–10:15 AM 



SESSION 49 – Common Variants, Rare Variants, and 

Everything in Between 


Moderators: Steve Rich, Univ. of Virginia; Rasika 

Mathias, Johns Hopkins Univ. Sch. of Med. 

268/8:00 Minimal differences in single nucleotide 

variation calls between blood- and cell line-derived 

DNA from the same individuals. C. M. Schafer, N. G. 

Campbell, G. Cai, J. S. Sutcliffe, J. D. Buxbaum, K. 

Roeder, ARRA Autism Sequencing Consortium. 

269/8:15 The impact of genetic variation on 

diabetes-related quantitative traits from whole 

exome sequences: The T2D-GENES Consortium. 

H. M. Highland, X. Sim, A. Manning, M. Rivas, G. 

Atzmon, S. Choi, B. K. Cornes, J. Dupuis, J. C. Florez, 

P. Fontanillas, T. Frayling, E. R. Gamazon, I.-S. Huh, 

H. K. Im, J. Kim, Y. J. Kim, C. M. Lindgren, A. E. Locke, 

J. B. Meigs, A. P. Morris, N. Palmer, I. Prokopenko, 

T. M. Teslovich, T2D-GENES Consortium. 

270/8:30 Whole-exome sequencing in multiplex 

families identifies novel rare variants in multiple 

sclerosis. A. H. Beecham, J. L. McCauley, A. 

Hadjixenofontos, P. L. Whitehead, I. Konidari, A. 

Aviram, Y. Pasco, S. L. Hauser, J. R. Oksenberg, 

D. J. Hedges, J. M. Vance, J. L. Haines, M. A. Pericak- 

Vance. 

271/8:45 A Mendelian randomization study on 

vitamin D status and blood pressure: A metaanalysis 

in up to 89,042 individuals. K. S. 

Vimaleswaran, D. J. Berry, A. Cavadino, M. R. Järvelin, 

E. Hyppönen, D-CarDia Collaboration. 

272/9:00 APOE modulates the relationship among 

triglycerides, cholesterol, and CHD through 

pleiotropy and gene-gene interactions. 

T . J. Maxwell, C. M. Ballantyne, J. M. Cheverud, 

C. S. Guild, C. E. Ndumele, E. Boerwinkle. 

273/9:15 Statistical inference of tissue-consistent 

and tissue-specific eQTLs. T. Flutre, X. Wen, 

J. Pritchard, M. Stephens. 

274/9:30 Estimates of penetrance for common 

pathogenic copy number variations. J. A. Rosenfeld, 

B. P. Coe, E. E. Eichler, H. Cuckle, L. G. Shaffer. 

275/9:45 Combining Illumina gene expression 

microarrays from different tissues: Methodological 

aspects. K. Heim, C. Schurmann, A. Schillert, 

C. Müller, T. Zeller, C. Herder, J. Kruppa, T. Illig, 

G. Homuth, K. Strauch, A. Peters, H. Wallaschofski, 

M. Dörr, T. Meitinger, P. S. Wild, S. Blankenberg, 

U. Völker, M. Roden, A. Teumer, H. Prokisch, A. Ziegler 

on behalf of MetaXpress Consortium. 

276/10:00 A DNA variant caller adapted to assess 

mitochondrial DNA variation in lymphocytes from 

1,000 Sardinians. J. Ding, C. Sidore, O. Meirelles, 

M. K. Trost, F. Busonero, R. Nagaraja, F. Cucca, 

G. R. Abecasis, D. Schlessinger. 



8:00 AM–10:15 AM 



SESSION 50 – Population Genetics Genome-Wide 


Moderators: Melissa A. Wilson Sayres, Univ. of 

California, Berkeley; Sarah Tishkoff, Univ. of 

Pennsylvania 

277/8:00 Direct measure of human somatic basesubstitution 

mutation rate in monozygotic twins. 

J. B. Richards, R. Li, A. Montpetit, T. D. Spector, C. 

Polychronakos. 

278/8:15 Estimating human mutation rate using 

autozygosity in a founder population. C. D. 

Campbell, J. X. Chong, M. Malig, A. Ko, B. L. Dumont, 

L. Han, L. Vives, B. J. O’Roak, P. H. Sudmant, 

M. Abney, C. Ober, E. E. Eichler. 

279/8:30 The myth of random mating: Evidence 

of ancestry-related assortative mating across 3 

generations in Framingham, MA. R. Sebro, G. 

Peloso, J. Dupuis, N. Risch. 

280/8:45 Combined analysis of loss-of-function 

variants in protein-coding genes from over 16,000 

individuals. D. G. MacArthur, M. Lek, K. Shakir, S. 

Balasubramanian, E. Lim, B. M. Neale, L. Habegger, 

S. Gabriel, P. Sullivan, S. Kathiresan, M. I. McCarthy, 

M. Boehnke, S. Purcell, S. A. McCarroll, M. B. Gerstein, 

D. Altshuler, M. A. DePristo, M. J. Daly. 

281/9:00 Abundant selection explains low diversity 

on human Y chromosomes. M. Wilson Sayres, K. 

Lohmueller, R. Nielsen. 

282/9:15 The genomic geography of close relatives 

across Europe. P. Ralph, G. Coop. 

283/9:30 Evolutionary history and adaptation 

inferred from whole-genome sequences of diverse 

African hunter-gatherers. J. Lachance, B. Vernot, 

C. Elbers, B. Ferwerda, A. Froment, J. Bodo, G. Lema, 

W. Fu, T. Nyambo, T. Rebbeck, K. Zhang, J. Akey, 

S. Tishkoff. 

284/9:45 Mapping the human genome’s missing 

pieces using population admixture. G. Genovese, 

R. E. Handsaker, H. Li, N. Altemose, A. M. Lindgren, 

K. Chambert, B. Pasaniuc, A. Price, D. Reich, C. C. 

Morton, M. R. Pollak, J. G. Wilson, S. A. McCarroll. 

285/10:00 When ancestry runs deep: Trans-species 

polymorphisms in apes. L. Segurel, E. Leffler, Z. Gao, 

S. Pfeifer, A. Auton, O. Venn, L. Stevison, A. Venkat, 

J. L. Kelley, J. Kidd, C. Bustamante, R. Bontrop, M. 

Hammer, J. Wall, P. Donnelly, G. McVean, 

M. Przeworski. 



8:00 AM–10:15 AM 



SESSION 51 – Endless Forms Most Beautiful: Variant 

Discovery in Genomic Data 


Center 

Moderators: Terry Furey, Univ. of North Carolina at 

Chapel Hill; Deanna Church, NCBI/NIH 

286/8:00 Dark matter of the diseasome: Annotating 

personal genomes for gene regulatory disease risk 

alleles. G. Bejerano. 

287/8:15 Causal mutation discovery using nextgeneration 

sequencing data: Development and 

application of a pipeline to reduce false positive 

calls and to map regions of shared homozygosity 

and IBD. S. Gulsuner, T. Walsh, A. C. Watts, M. K. Lee, 

T. Ozcelik, M. C. King. 

288/8:30 A new framework for large-scale genomic 

variant discovery and validation using pooled 

sequencing data. G. del Angel, M. Carneiro, E. Banks, 

R. Poplin, C. Hartl, M. A. DePristo. 

289/8:45 Discovery of genomic variants from RNAsequencing 

data. R. Piskol, G. Ramaswami, J. B. Li. 

290/9:00 zCall: A rare variant caller for array-based 

genotyping. J. I. Goldstein, A. Crenshaw, J. Carey, G. 

Grant, J. Maguire, M. Fromer, C. O’Dushlaine, J. L. 

Moran, K. Chambert, C. Stevens, P. Sklar, C. Hultman, 

S. Purcell, S. McCarroll, P. F. Sullivan, M. J. Daly, B. 

M. Neale, Swedish Schizophrenia Consortium, ARRA 

Autism Sequencing Consortium. 

291/9:15 Copy number detection and variant 

classification in the DDD project. T. W. Fitzgerald, 

K. I. Morley, M. van Kogelenberg, E. Bragin, 

P. Vijayarangakannan, A. Tivey, S. Clayton, S. Gribble, 

C. Wright, D. FitzPatrick, H. Firth, J. Barrett, N. Carter, 

M. Hurles. 

292/9:30 Removal of mapping biases in sequencebased 

functional data improves regulatory element 

identification at heterozygous variants. 

M. Buchkovich, K. L. Mohlke, T. S. Furey. 

293/9:45 SNP discovery in diverse human 

populations by rapid, very-low-cost next-generation 

sequencing of reduced representation libraries. 

T. F. Cooke, M. C. Yee, M. Muzzio, R. Bell, 

O. E. Cornejo, C. D. Bustamante, E. E. Kenny. 

294/10:00 HIBAG -- HLA genotype imputation with 

attribute bagging. X. Zheng, J. Shen, C. Cox, 

J. Wakefield, M. Ehm, M. Nelson, B. Weir. 





8:00 AM–10:15 AM 



SESSION 52 – Clinical Genetics: Complex Mechanisms 

and Exome-Discovery 


Moderators: Michael Gambello, Emory Univ.; Antonie 

D. Kline, Harvey Inst. for Human Genet., Baltimore 

295/8:00 Systematic identification of causal 

mutations in Mendelian disorders using exome 

sequence data. M. Lek, N. F. Clarke, L. B. Waddell, 

B. Thomas, M. A. DePristo, M. J. Daly, K. N. North, 

D. G. MacArthur. 

296/8:15 Exome sequencing of a large cohort of 

patients with congenital digestive system 

disorders. M. Yourshaw, S. F. Nelson, M. G. Martín. 

297/8:30 Novel defect in kinetochore assembly 

causes short stature and microcephaly of postnatal 

onset. C. Y. Hung, J. E. Dallman, O. Rittinger, 

J. W. Bauer, M. Tekin, O. A. Bodamer. 

298/8:45 Mutations in PIGO, a member of the GPI 

anchor synthesis pathway, cause 

hyperphosphatasia with mental retardation 

syndrome. P. M. Krawitz, Y. Murakami, J. Hecht, U. 

Krüger, S. E. Holder, G. R. Mortier, B. Chiaie, E. Baere, 

M. D. Thompson, T. Roscioli, S. Kielbasa, T. Kinoshita, 

S. Mundlos, P. N. Robinson, D. Horn. 

299/9:00 The 600 kb deletion syndrome at 16p11.2 

leads to energy imbalance and neuropsychiatric 

disorders. S. Jacquemont, F. Zufferey, E. H. Sherr, N. 

D. Beckmann, E. Hanson, A. Maillard, L. Hippolyte, A. 

Mace, C. Ferrari, Z. Kutalik, J. Andrieux, R. Bernier, S. 

Bouquillon, B. Delobel, W. Andrew-Faucett, R. P. Goin- 

Kochel, L. Harewood, S. Lebon, D. H. Ledbetter, C. 

Lese-Martin, K. Mannick, D. Martinet, M. B. Ramocki, 

S. J. Spence, K. Steinmann, J. Tjernagel, J. E. Spiro, 

A. Reymond, W. Chung, J. S. Beckmann on behalf 

of Simons VIP Consortium, and 16p11.2 European 

Consortium. 

300/9:15 Ras/MAPK dysregulation caused by MEK2 

haploinsufficiency: A novel mechanism for a 

RASopathy phenotype. M. J. M. Nowaczyk, B. 

Thompson, S. Zeesman, U. Moog, P. A. Sanchez-Lara, 

R. Falk, P. Magoulas, L. Brueton, S. M. Ahmudavalli, 

J. H. Fong, D. Batista, K. Rauen. 

301/9:30 Analysis of ESP5400 exomes for results of 

clinical utility in genes for conditions tested as part 

of newborn screening programs and age-related 

macular degeneration. H. K. Tabor, S. M. Jamal, 

J. H. Yu, A. S. Gordon, W. S. Post, A. D. Johnson, 

T. A. Graubert, D. A. Nickerson, P. L. Auer, M. J. 

Bamshad on behalf of NHLBI Personal Genomics 

Project Team and NHLBI Exome Sequencing Project. 

302/9:45 High congenital malformation rates in a 

Chernobyl ionizing radiation impacted population 

isolate in Ukraine. W. Wertelecki, L. Yevtushok, 

N. Zymak-Zakutnia, S. Lachenko. 

303/10:00 Somatic mosaicism is responsible for 

congenital melanocytic naevus syndrome, and 

underpins the associated risk of melanoma. 

V. A. Kinsler, A. C. Thomas, N. W. Bulstrode, 

S. Abu-Amero, K. McKenzie, E. Chanudet, P. Stanier, 

E. Healy, N. J. Sebire, G. E. Moore. 



8:00 AM–10:15 AM 



SESSION 53 – From SNP to Function in Complex Traits 


Moderators: Praveen Sethupathy, Univ. of North 

Carolina at Chapel Hill; Aravinda Chakravarti, 

McKusick-Nathans Inst. of Genet. Med., Baltimore 

304/8:00 The type 2 diabetes risk allele of 

rs11603334 increases ARAP1 promoter activity 

and is associated with increased ARAP1 mRNA 

in pancreatic islets. J. R. Kulzer, M. L. Stitzel, M. A. 

Morken, F. S. Collins, K. L. Mohlke. 

305/8:15 NOS1AP is the major genetic 

electrocardiographic QT-interval regulator. 

A. Kapoor, R. B. Sekar, V. Pihur, M. K. Halushka, 

G. F. Tomaselli, A. Chakravarti. 

306/8:30 A regulatory polymorphism in Csk, a Lyp 

binding partner, associates with systemic lupus 

erythematosus and affects B cell signaling, 

maturation and activation. N. Manjarrez-Orduño, 

E. Marasco, S. A. Chung, M. S. Katz, J. F. Kiridly, 

K. R. Simpfendorfer, J. Freudenberg, D. H. Ballard, 

E. Nashi, T. J. Hopkins, D. S. Cunninghame Graham, 

A. T. Lee, M. J. H. Coenen, B. Franke, D. S. Swinkels, 

R. Graham, R. P. Kimberly, P. M. Gaffney, T. J. Vyse, T. 

W. Behrens, L. A. Criswell, B. Diamond, 

P. K. Gregersen. 

307/8:45 ITGAM coding variant, rs1143679 (R77H) 

that is associated with systemic lupus 

erythematosus (SLE) susceptibility affects its 

own expression in monocytes and ligand binding 

activities in SLE patients. A. K. Maiti, X. Kim-Howard, 

P. Motghare, J. M. Anaya, L. Loogers, S. K. Nath. 

308/9:00 Loss-of-function of semaphorins 3C and 

3D in Hirschsprung disease. Q. Jiang, K. P. Kilambi, 

T. Heanue, M. X. Sosa, Q. Wang, J. J. Gray, 

A. L. Kolodkin, D. D. Ginty, A. Chakravarti. 

309/9:15 Functional assessment of human coding 

polymorphisms affecting skin pigmentation using 

zebrafish. Z. Tsetskhladze, V. Canfield, K. Ang, 

S. Wentzel, K. Reid, A. Berg, S. Johnson, 

K. Kawakami, K. Cheng. 

310/9:30 Dosage effects of 169 Chr21 genes on 

early development events in zebrafish. S. Edie, 

N. Zaghloul, D. Klinedinst, J. Lebron, N. Katsanis, 

R. Reeves. 

311/9:45 Two birds, one stone: Epistasis profiling of 

many single-nucleotide variants in a human gene. 

O. Zill, J. Kitzman, J. Shendure, S. Fields. 

312/10:00 Discovery and replication of pathwaybased 

trans-eQTL associations. L. Wiley, W. Bush. 



8:00 AM–10:15 AM 



SESSION 54 – Genetic Counseling and Clinical Testing 


Moderators: Susan Hahn, Univ. of Miami, Hussman 

Inst. for Human Genomics; Andrew Faucett, Geisinger 

Hlth. Syst., Danville, PA 

313/8:00 Utilization of chromosomal microarrays in 

pediatrics. A. H. Seeley, C. E. Keegan, C. S. 

Remmert, B. A. Tarini. 

314/8:15 Maximizing detection and minimizing 

noise: The first report of large scale whole exome 

sequencing data interpretation in a clinical 

laboratory. F. Xia, J. Beuten, M. Bainbridge, Z. Niu, 

M. Vatta, M. R. Bekheirnia, R. E. Person, M. Hardison, 

J. G. Reid, D. P. Sexton, A. C. Hawes, P. A. Pham, M. 

Wang, N. Saada, W. Liu, H. Sun, M. Scheel, Y. Ding, 

A. Roy, J. Wiszniewska, A. Willis, D. M. Muzny, S. E. 

Plon, J. R. Lupski, A. L. Beaudet, R. A. Gibbs, C. M. 

Eng, Y. Yang. 

315/8:30 Efficient detection of causative mutations 

for rare diseases: Rethinking clinical practice. 

H. Lee, J. Deignan, T. Toy, B. Harry, M. Yourshaw, 

P. Taylor, S. Webb, N. Dorrani, K. Das, F. Quintero, 

S. Kantarci, D. A. Wong, W. W. Grody, E. Vilain, 

S. F. Nelson. 

316/8:45 Intentions to receive individual results 

from whole-genome sequencing among 

participants in the ClinSeq study. B. B. Biesecker, 

F. M. Facio, H. Eidem, T. Fisher, S. Brooks, A. Linn, 

K. A. Kaphingst, L. G. Biesecker. 

317/9:00 Changes to control perceptions following 

disclosure of APOE-coronary artery disease 

associations during genetic susceptibility testing 

for Alzheimer’s disease: Findings from the REVEAL 

Study. K. Christensen, J. S. Roberts, W. R. Uhlmann, 

P. J. Whitehouse, T. O. Obisesan, D. L. Bhatt, 

L. A. Cupples, R. C. Green. 

318/9:15 Decreased prediction ability of common 

genetic variants on breast cancer risk with age: 

Possible underlying models and impact on risk 

prediction. H. Aschard, S. Lindstrom, P. Kraft. 

319/9:30 Large-sample size, comprehensive catalog 

of variants and advanced machine learning 

technique boost risk prediction for inflammatory 

bowel disease. Z. Wei, W. Wang, J. Bradfield, 

E. Frackelton, C. Kim, F. Mentch, R. Baldassano, 

H. Hakonarson, International IBD Genetics 

Consortium. 

320/9:45 A comparison of risk estimates for 

complex diseases: Navigenics SNP-based testing 

and family history assessment. L. Aiyar, C. Shuman, 

R. Hayeems, L. Velsher, S. Wodak, D. Chitayat, 

J. Davies. 





8:00 AM–10:15 AM 


Session D (47-55) (SESSION 54, continued) 

321/10:00 Web-based case conferencing: An 

effective source of cancer genetics training for 

community-based clinicians. K. Blazer, J. Weitzel. 


8:00 AM–10:15 AM 



SESSION 55 – Mitochondrial Disorders and Ciliopathies 


Moderators: Catherine E. Keegan, Univ. of Michigan; 

Mitzi Murray, Univ. of Washington 

322/8:00 Combination of modern and traditional 

techniques identify MCKD1 causal frameshift 

variants within the MUC1 VNTR. A. Kirby, A. Gnirke, 

D. Jaffe, V. Bareová, N. Pochet, B. Blumenstiel, C. Ye, 

D. Aird, C. Stevens, J. Robinson, M. Calibi, I. Gat-Viks, 

E. Kelliher, R. Daza, M. DeFelice, H. Hlková, J. Sovová, 

C. Antignac, M. Guttman, R. Handsaker, K. Lindblad- 

Toh, S. Gabriel, P. S. Hart, A. Regev, C. Nusbaum, 

S. Kmoch, A. Bleyer, E. Lander, M. Daly. 

323/8:15 ARL13B, INPP5E, PDE6D and CEP164 

form a functional network involved in Joubert 

syndrome and nephronophthisis. S. Seo, M. C. 

Humbert, K. Weihbrecht, C. C. Searby, Y. Li, R. M. 

Pope, V. C. Sheffield. 

324/8:30 Mainzer-Saldino syndrome is a ciliopathy 

caused by mutations in the IFT140 gene. I. Perrault, 

S. Saunier, S. Hanein, E. Filhol, A. Bizet, F. Collins, 

M. Salih, S. Gerber, N. Delphin, E. Silva, V. Baudouin, 

M. Oud, N. Shannon, M. Le Merrer, O. Roche, C. 

Pietrement, C. Bole-Feysot, P. Nitschke, M. Zahrate, P. 

Beales, H. Arts, A. Munnich, J. Kaplan, C. Antignac, V. 

Cormier-Daire, J.-M. Rozet. 

325/8:45 Mutations in ALDH1B1, which encodes a 

mitochondrial protein belonging to the aldehyde 

dehydrogenase family, result in hepatic failure and 

mitochondrial respiratory chain deficiency. S. Salhi, 

V. Serre, M. Beinat, P. Nitschke, O. Bernard, A. Slama, 

A. Munnich, A. Rotig. 

326/9:00 Targeted exome sequencing of 102 

patients with clinical evidence of mitochondrial 

disease. D. S. Lieber, S. E. Calvo, K. Shanahan, 

N. G. Slate, S. Liu, S. G. Hershman, N. B. Gold, 

B. A. Chapman, M. Borowsky, D. R. Thorburn, 

G. T. Berry, J. D. Schmahmann, D. M. Mueller, 

K. B. Sims, V. K. Mootha. 

327/9:15 Genetic diagnosis of mitochondrial 

disorders by whole-exome sequencing. C. J. Carroll, 

V. Brilhante, P. Isohanni, R. Pöyhönen, L. Euro, 

U. Richter, T. Lahtinen, A. Götz, H. Almusa, P. Ellonen, 

H. Pihko, B. Battersby, H. Tyynismaa, A. Suomalainen. 

328/9:30 Constitutive activation of STIM1 causes 

tubular aggregate myopathy. J. Laporte, F. 

Chevessier, A. Maues de Paula, C. Koch, S. Attarian, 

C. Feger, D. Hantaï, P. Laforêt, K. Ghorab, J. M. Vallat, 

M. Fardeau, D. Figarella-Branger, J. Pouget, M. Koch, 

C. Ebel, N. Levy, B. Eymard, M. Bartoli, J. Bohm. 



8:00 AM–10:15 AM 


Session D (47-55) (SESSION 55, continued) 

329/9:45 Mutation in PNPT1 gene, which encodes a 

mitochondrial polyribonucleotide 

nucleotidyltransferase, causes encephalopathy with 

choreo-athetotic movements. V. Vedrenne, A. 

Gowher, P. De Lonlay, P. Nitschke, V. Serre, N. 

Boddaert, C. Altuzarra, A. M. Mager-Heckel, F. 

Chretien, N. Entelis, I. Tarassov, A. Munnich, A. Rotig. 

330/10:00 Comprehensive analysis of 101 nuclear 

genes for molecular diagnosis of mitochondrial 

disorders. R. Bai, J. Higgs, S. F. Suchy, S. Buchholz, 

D. Arjona, B. Boggs, C. Chinault, N. Smaoui, S. 

Benhamed, J. Compton, Y. Shevchenko, G. Richard, 

S. Bale, F. D. Kendall, S. Parikh, A. L. Gropman, 

W. Chung, A. Goldstein, S. E. Palmer, J. A. Panzer, 

S. W. Yum, M. J. Falk. 



10:30 AM–11:15 AM 

SESSION 56 – Gruber Genetics Prize Award 

Presentation and Rosalind Franklin Young Investigator 

Award Announcement 


The Genetics Prize is awarded annually by The Gruber 

Foundation. The Genetics Prize is presented to a 

leading scientist, or up to three, in recognition of 

groundbreaking contributions to any realm of genetics 

research. The recipient will be presented with a gold 

medal and a $500,000 unrestricted cash award. 

Recipient: 

Douglas Wallace, PhD 

Prof. of Pathol. and Lab. Med., Univ. of Pennsylvania 

Ctr. of Mitochondrial and Epigenomic Med., Children’s 

Hosp. of Philadelphia 

The 2012 Genetics Prize of The Gruber Foundation will 

be presented to pioneering geneticist Douglas 

C. Wallace for the discovery of mutations in the 

mitochondrial genome and their impact on human 

health and disease. 

Dr. Wallace will deliver a lecture entitled, “A 

Bioenergetic Perspective on Origins, Health, and 

Disease”. 

Life is the interplay between structure (anatomy), 

energy (vital force), and the information to encode 

the structural and energetic systems. Classical 

Western biomedical thought has taken an anatomical 

perspective on disease and a Mendelian perspective 

on genetics. However, these perspectives are proving 

increasingly inadequate to explain the biological and 

genetic basis of complex diseases, cancer, and aging. 

To augment this classical perspective, we need to 

consider the bioenergetics of the eukarotic cell which 

is centered on the symbiotic bacterium known as the 

mitochondrion. The mitochondrion has its own DNA, 

the mitochondrial DNA (mtDNA), which encodes the 

core cellular energy genes. Mutations in the mtDNA 

have been found to cause the full range of complex 

disease phenotypes, the thousands of mtDNAs per 

cell provides an alternative explanation for quantitative 

genetic traits, and the analysis of mtDNA variation 

in human populations has offered new insights 

into ancient ancestral migrations and adaptation 

to alternative environments. The causal role of 

bioenergetic changes in complex disease has been 

validated by the introduction of mtDNA mutations into 

mice which then manifest common complex disease 

phenotypes. The recognition of the dichotomy 

between anatomical-chromosomal genes and 

bioenergetic-mtDNA genes has generated new insights 





10:30 AM–11:15 AM (SESSION 56, continued) 

into the molecular genetic basis of human health and 

disease, offered a new perspective on the neutralistselectionist 

debate, and provided an explanation for 

the force that drives the evolution of 

complex biological forms. 

The Gruber Genetics Prize has been presented 

annually since 2001. Laureates are: Rudolf Jaenisch, 

H. Robert Horvitz, David Botstein, Mary-Claire King, 

Robert H. Waterston, Elizabeth H. Blackburn, Maynard 

V. Olson, Allan C. Spradling, Janet Davison Rowley, 

Gerald Fink, Ronald Davis. 

Nominations for the 2013 Prize are currently open. The 

deadline is December 15, 2012. For further information 

see www.gruberprizes.org. 

ROSALIND FRANKLIN YOUNG INVESTIGATOR 

AWARDS: Every three years, the Peter and Patricia 

Gruber Foundation presents the Rosalind Franklin Young 

Investigator Awards to two young women geneticists. 

One award is for research in genetics of humans and 

other mammals, and one award is for research in 

genetics of other model organisms. The awards are for 

career development and are $75,000 over three years. 

Winners of the Rosalind Franklin Award are in their first 

three years in an independent faculty level position 

in any area of genetics. The winners are selected by 

a committee of women geneticists, including former 

winners of the award. The recipients of the 2013–2015 

Rosalind Franklin Young Investigator Awards are: 

Valerie Horsley, PhD, 

Assistant Professor of Molecular, Cellular, and 

Developmental Biology at Yale University, for her 

studies of the epithelial stem cell niche delineated by 

mouse genetic models; 

and 

Mary Gehring, PhD, 

Member of the Whitehead Institute and Assistant 

Professor of Biology at MIT, for her studies of 

imprinting and epigenetic regulation in Arabidopsis. 

Other finalists were Genevieve Konopka, PhD, 

Assistant Professor of Neuroscience at UT 

Southwestern and Avital Rodal, PhD, Assistant 

Professor of Biology at Brandeis University. 


11:15 AM–11:45 AM 

SESSION 57 – ASHG William Allan Award Presentation 


The William Allan Award is presented annually by 

ASHG to recognize substantial and far-reaching 

scientific contributions to human and medical 

genetics, carried out over a lifetime of scientific inquiry 

and productivity. 

Introduction: 

Tayfun Özcelik 

Bilkent Univ., Ankara, Turkey 

Recipient: 

Uta Francke, MD 

Prof. Em., Stanford Univ. Med. Ctr. 

Dr. Francke was chosen for her outstanding and 

tireless contributions to human and medical genetics 

fields, for her major impact on the study of many 

human disorders, for the breadth and depth of her 

applications of chromosomal analyses and molecular 

studies, and for her innovative uses of mouse models 

for understanding human genetic disease. The award 

recognizes her seminal work which extends back to 

the early days of medical and human genetics and 

includes more than 500 peer-reviewed publications. 

Among Francke’s exemplary achievements are 

advances in understanding Charcot-Marie-Tooth, 

Marfan, Rett, Prader-Willi, Williams, and Wiskott- 

Aldrich syndromes, which have had a major impact 

on the studying and treatment of these disorders. 

In essence, her lifetime of scientific discoveries and 

numerous contributions to the field over the decades 

have been far-reaching and have made a significant 

impact on advancing both basic and clinical human 

genetics. Dr. Francke has been one of the most 

respected scientists in the genetics community and is 

a stellar example of a tireless scientist, always seeking 

answers to important questions that interested her. 

Past Recipients: John Opitz (2011); Jurg Ott (2010); 

Hunt Willard (2009); Haig Kazazian (2008); Arthur 

Beaudet (2007); Dorothy Warburton (2006); Francis 

Collins (2005); Louis Kunkel (2004); David Weatherall 

(2003); Albert de La Chapelle (2002); Charles Epstein 

(2001); Stephen Warren (1999); Bert Vogelstein 

(1998); Philip Leder (1997); Robert Elston (1996); 

Kurt Hirschhorn (1995); Douglas Wallace (1994); 

Antonio Cao & Michael Kaback (1993); Alec Jeffreys 

(1992); Janet Rowley & Alfred Knudson (1991); Kary 

Mullis (1990); David Bostein & Ray White (1989); T. 

Caspersson (1988); L. L. Cavalli-Sforza (1987); Mary 

Lyon (1986); Joseph Goldstein & Michael Brown 

(1985); Y. W. Kan (1984); Frank Ruddle (1983); 



11:15 AM–11:45 AM (SESSION 57, continued) 

Elizabeth Neufield (1982); Patricia Jacobs (1981); 

Walter Bodmer (1980); F. Clarke Fraser (1979); 

Charles Scriver (1978); Victor McKusick (1977); 

Philip Levin and A.S. Wiener (1975); Curt Stern (1974); 

Barton Childs (1973); Arno Motulsky (1970); 

Jerome Lejeune (1969); Harry Harris (1968); 

Vernon Ingram (1967); James Neel (1965); 

Newton Morton (1962). 



11:45 AM–12:45 PM 

SESSION 58 – ASHG Membership and Business 

Meeting 


Reports highlighting current Society business will be 

presented. This is an opportunity for members to learn 

about recent ASHG activities and to provide 

suggestions to leaders. There will be a moment of 

silence for those members and colleagues we have 

lost in 2012. Discussion from the floor is encouraged. 





4:30 PM–6:45 PM 


Session E (59-67) 

SESSION 59 – Genome Structure and Variation 


Moderators: John Moran, Univ. of Michigan Med. Sch.; 

Ryan Mills, Univ. of Michigan Med. Sch. 

331/4:30 A map of human genetic variation: Update 

from the 1000 Genomes Project. F. Yu, 1000 

Genomes Consortium. 

332/4:45 Towards a whole genome map of heritable 

copy number variation. S. Aradhya, L. Matyakhina, 

D. Pineda Alvarez, D. Riethmaier, A. Fuller, G. Richard, 

J. Meck. 

333/5:00 Charting the population-scale landscape 

of short tandem repeat variation in humans. 

M . Gymrek, J. Chen, C. O’Dushlaine, M. Daly, 

D. Reich, Y. Erlich. 

334/5:15 Whole-genome sequencing analysis of 

iPSC lines uncovers lineage-manifested CNVs. 

A . E. Urban, A. Abyzov, D. Palejev, L. Rosenberg- 

Belmaker, Y. Zhang, J. Mariani, L. Tomasini, 

A. Ferrandino, A. Szekely, M. Wilson, M. Haney, 

E. Grigorenko, A. Huttner, S. Weissman, M. Gerstein, 

F. Vaccarino. 

335/5:30 SNP markers identify areas with restricted 

recombination suggesting structural variation 

across the human genome is widespread. 

P. G. Hysi, B. Tamraz, A. Nag, C. Venturini, J. S. 

Rahi, T. D. Spector, C. J. Hammond. 

336/5:45 Mapping the L1 interactome reveals RISCassociated 

helicase MOV10 as a potent inhibitor 

of retrotransposition. J. Goodier, L. Cheung, H. H. 

Kazazian. 

337/6:00 FoSTeS/MMBIR replicative repair 

mechanisms are error prone: High frequency of 

nucleotide variation at the breakpoint junctions. 

C. M. B. Carvalho, M. B. Ramocki, D. Pehlivan, 

P. Fang, L. M. Franco, J. W. Belmont, P. J. Hastings, 

J. R. Lupski. 

338/6:15 Telomere position effect in patients with 

subtelomeric deletions. J. Gerfen, M. K. Rudd, 

H. Mason-Suares. 

339/6:30 De novo CNV formation in mouse 

embryonic stem cells occurs in the absence of 

Xrcc4-dependent nonhomologous end joining. 

M . F. Arlt, S. Rajendran, S. R. Birkeland, 

K. M. McSweeney, T. E. Wilson, T. W. Glover. 


4:30 PM–6:45 PM 



SESSION 60 – Advances in Neurodegenerative Disease 


Center 

Moderators: Jeff Vance, Univ. of Miami; 

Tricia Thornton-Wells, Vanderbilt Univ. 

340/4:30 A genome-wide association study for 

cerebrospinal fluid tau and amyloid beta 42 identify 

new candidate variants implicated in Alzheimer’s 

disease. J. S. K. Kauwe, C. Cruchaga, O. Harari, K. 

Mayo, S. Bertelsen, M. Bailey, D. McKean, P. G. Ridge, 

T. J. Maxwell, E. Peskind, D. Galasko, A. M. Goate, 

ADGC, ADNI, GERAD. 

341/4:45 Analysis of whole transcriptome specific 

to the temporal pole of late-onset Alzheimer’s 

disease. C. E. Humphries, M. A. Kohli, P. W. 

Whitehead, W. F. Hulme, L. Nathanson, D. C. Mash, 

M. A. Pericak-Vance, J. R. Gilbert. 

342/5:00 Rare variants from high-density exome 

genotyping in late-onset Alzheimer’s disease: 

Update from Alzheimer’s Disease Genetics 

Consortium. L.-S. Wang, A. C. Naj, C. Cruchaga, 

S. Mukherjee, C.-F. Lin, O. Valladares, L. B. Cantwell, 

R. Graham, T. Behrens, P. K. Crane, A. M. Goate, 

M. A. Pericak-Vance, G. D. Schellenberg, Alzheimer’s 

Disease Genetics Consortium. 

343/5:15 Common variants in ABCA7 and GRIN3B, 

HMHA1 and SBNO2, are associated with late-onset 

Alzheimer’s disease in African Americans. C. Reitz, 

G. Jun, J. Buros, B. Vardarajan, L.-S. Wang, J. D. 

Buxbaum, E. B. Larson, N. Graff-Radford, D. Evans, 

N. Ertekin-Taner, M. Logue, C. T. Baldwin, R. C. Green, 

L. L. Barnes, L. B. Cantwell, M. D. Fallin, J. Manly, 

K. L. Lunetta, M. I. Kamboh, D. A. Bennett, K. Hall, 

A. M. Goate, G. S. Byrd, W. A. Kukull, T. M. Foroud, 

J. L. Haines, M. A. Pericak-Vance, L. A. Farrer, G. 

Schellenberg, R. Mayeux, ADGC Consortium. 

344/5:30 Genome-wide association analyses of 

onset age in late-onset Alzheimer disease 

demonstrate no strong effect outside of the APOE 

region. A. C. Naj, Y. S. Park, R. Rajbhandary, K. L. 

Hamilton, G. W. Beecham, E. R. Martin, R. Mayeux, 

J. L. Haines, L. A. Farrer, G. D. Schellenberg, 

M. A. Pericak-Vance, Alzheimer’s Disease Genetics 

Consortium. 

345/5:45 Identification by exome analysis of the 

molecular bases of familial idiopathic basal ganglia 

calcification not related to SLC20A2 mutation. 

G. Nicolas, C. Pottier, D. Maltête, S. Coutant, 

A. Rovelet- Lecrux, S. Legallic, Y. Vaschalde, 

L. Guyant-Maréchal, J. Augustin, O. Martinaud, 

L. Defebvre, P. Krystkowiak, J. Pariente, I. Le Ber, 

T. Frebourg, D. Hannequin, D. Campion. 



4:30 PM–6:45 PM 


Session E (59-67) (SESSION 60, continued) 

346/6:00 Mutations in DNAJ cause autosomal 

dominant Parkinson disease in the Mennonite 

community. C. Vilarino-Guell, A. Rajput, S. Appel- 

Cresswell, B. Shah, I. Yu, C. Thompson, C. Szu Tu, J. 

Trinh, M. Encarnacion, D. W. Dickson, A. J. Stoessl, M. 

L. Rajput, M. J. Farrer, A. H. Rajput. 

347/6:15 C9ORF72 repeat expansion is a risk factor 

for Parkinson disease. K. Nuytemans, G. Bademci, 

M. M. Kohli, G. Beecham, V. Inchausti, A. Dressen, 

L. Wang, J. I. Young, F. Nahab, C. Singer, E. R. Martin, 

J. R. Gilbert, M. Benatar, J. L. Haines, W. K. Scott, 

S. Zuchner, M. A. Pericak-Vance, J. M. Vance. 

348/6:30 Age-dependent penetrance of ALS+/-FTD 

due to C9orf72 hexanucleotide intronic repeat 

expansion mutations. B. N. Smith, S. Topp, 

J. Barnwell, A. Al-Chalabi, J. Kirby, P. J. Shaw, H. Pall, 

K. E. Morrison, V. de Jong, F. Bass, C. E. Shaw, 

C. M. Lewis. 



4:30 PM–6:45PM 



SESSION 61 – Missing Heritability, Interactions and 

Sequencing 


Moderators: Dana Crawford, Vanderbilt Univ.; 

Alkes Price, Harvard Sch. of Publ. Hlth. 

349/4:30 Empirical and theoretical studies on 

genetic variance of rare variants for complex traits 

using whole genome sequencing in the CHARGE 

Consortium. C. Zhu, A. Morrison, J. Reid, C. J. 

O’Donnell, B. Psaty, L. A. Cupples, R. Gibbs, E. 

Boerwinkle, X. Liu. 

350/4:45 Leveraging admixture analysis to resolve 

missing and cross-population heritability in GWAS. 

N. Zaitlen, A. Gusev, B. Pasaniuc, G. Bhatia, S. 

Pollack, A. Tandon, E. Stahl, R. Do, B. Vilhjalmsson, E. 

Akylbekova, A. Cupples, M. Fornage, L. Kao, L. Lange, 

S. Musani, G. Papanicolaou, J. Rotter, I. Ruczinksi, 

D. Siscovick, X. Zhu, S. McCarroll, G. Lettre, 

J. Hirschhorn, N. Patterson, D. Reich, J. Wilson, 

S. Kathiresan, A. Price, CARe Analysis Core. 

351/5:00 Applying a quantitative genetics test of 

evolutionary neutrality to finger ridge-count, a 

classical model trait in humans. S. E. Medland, 

P. M. Visscher, G. W. Montgomery, D. M. Evans, 

N. G. Martin. 

352/5:15 Does common variation contribute to the 

shared genetic basis for schizophrenia and autism? 

P. H. Lee, S. Ripke, S. Santangelo, M. Daly, Psychiatric 

GWAS Consortium - Schizophrenia & Autism Working 

Group. 

353/5:30 Ultrafast genome-wide interaction scan 

on case-control data implicates epistatic calcium 

channels in bipolar disorder. S. Prabhu, I. Pe’er. 

354/5:45 Computational challenges in the analysis 

of low coverage sequence data in thousands of 

individuals. Y. Luo, L. Jostins, C. A. Anderson, J. C. 

Barrett, UK10K, UKIBDGC. 

355/6:00 Sparse sequencing of 6,000 cases and 

6,000 controls from Chinese women for genomewide 

association study of major depression. 

X. Gan, R. Mott, J. Flint, CONVERGE Consortium. 

356/6:15 Deep targeted sequencing of 12 breast 

cancer loci in 4,700 women across four different 

ethnicities. P. Kraft, S. Lindstrom, B. Chapman, 

G. Chen, C. Chen, O. Hofman, D. Mirel, C. Haiman. 

357/6:30 Population stratification of human 

disease-associated SNPs, and their relevance to 

human disease networks. S. M. Raj, G. E. Hoffman, 

A. G. Clark. 





4:30 PM–6:45 PM 



SESSION 62 – Exome Sequencing Uncovers Etiology of 

Mendelian Disease 


Moderators: Cheryl Maslen, Oregon Hlth. & Sci. Univ.; 

Jun Z. Li, Univ of Michigan 

358/4:30 Loss of function mutations in known 

human disease genes in 572 exomes. J. Johnston, 

K. Lewis, D. Ng, S. Gonsalves, J. Mullikin, L. G. 

Biesecker. 

359/4:45 The problem of multiple plausible 

molecular diagnoses in next-generation 

sequencing data: The NIH Undiagnosed Diseases 

Program experience. D. Adams, C. Boerkoel, 

K. Fuentes- Fajardo, P. Cherukuri, M. Sincan, C. Toro, 

C. Tifft, W. Gahl, T. Markello. 

360/5:00 Exome sequencing to identify the cause of 

Mendelian diseases. J. Lupski, C. Gonzaga- 

Jauregui, W. Wiszniewski, D. Pehlivan, E. Karaca, 

A. Stray- Pedersen, S. Jhangiani, J. Reid, D. Muzny, 

R. A. Gibbs, Baylor-Hopkins Center for Mendelian 

Genomics. 

361/5:15 Domain-specific mutations in CDKN1C 

cause two disorders with opposing phenotypes: 

The undergrowth disorder IMAGe syndrome or 

the overgrowth disorder Beckwith-Wiedemann 

syndrome. V. Arboleda, H. Lee, R. Parnaik, A. 

Fleming, A. Banerjee, B. Ferraz-de-Souza, E. Delot, 

I. A. Rodriguez-Fernandez, D. Braslavsky, I. Bergadá, 

E. C. Dell’Angelica, S. F. Nelson, J. A. Martinez- 

Agosto, J. C. Achermann, E. Vilain. 

362/5:30 SCID newborn screening and exome 

sequencing identifies ataxia telangiectasia and low 

T cells early in life. J. M. Mallott, A. Kwan, J. Church, 

D. Gonzalez, S. Rana, U. Sunderam, R. Srinivasan, 

S. E. Brenner, L. F. Tang, F. Lorey, J. Puck. 

363/5:45 Identification of a new melanocyte 

differentiation gene underlying human autosomal 

recessive albinism. K. Grønskov, C. M. Dooley, 

E. Østergaard, R. N. Kelsh, L. Hansen, M. P. Levesque, 

K. Vilhelmsen, D. Stemple, T. Rosenberg. 

364/6:00 Exome sequencing results in 230 patients 

with severe developmental disorders in the DDD 

project. M. van Kogelenberg, K. Morley, T. Fitzgerald, 

S. Gerety, A. Tivey, S. Al-Turki, S. Clayton, C. Wright, J. 

Barrett, H. Firth, D. FitzPatrick, N. Carter, M. Hurles on 

behalf of DDD Project. 

365/6:15 Genetic etiology of isolated congenital 

asplenia. A. Bolze, L. Abel, A. Puel, N. Trede, 

L. Selleri, J.-L. Casanova. 

366/6:30 Whole genome sequencing in two 

brothers with heterotaxy reveals BCL9L as a 

novel gene associated with autosomal recessive 

heterotaxy (HTX6). C. J. Saunders, N. A. Miller, 

S. E. Soden, E. Farrow, D. L. Dinwiddie, N. P. Safina, 

S. Humphray, P. Saffrey, Z. Kingsbury, J. C. Weir, 

J. Betley, R. J. Grocock, J. E. Petrikin, K. P. Hall, 

S. F. Kingsmore. 



4:30 PM–6:45 PM 



SESSION 63 – Transcriptional Regulation, Variation and 

Complexity 


Center 

Moderators: Barbara Stranger, Brigham and Women’s 

Hosp., Harvard Med. Sch; Ross Hardison, Penn State 

367/4:30 The complete GENCODE human 

annotation: New insights into the functionality of 

transcriptional complexity. J. M. Mudge, A. Frankish, 

GENCODE Consortium, T. Hubbard, J. L. Harrow. 

368/4:45 Genetic analyses in the Genotype-Tissue 

Expression (GTEx) project. K. Ardlie, N. Cox, D. 

DeLuca, E. Dermitzakis, B. Foster, G. Getz, R. Guigo, 

S. Jewell, D. Koller, J. Liu, J. Londsdale, D. Mash, 

M. McCarthy, M. Moser, D. L. Nicolae, A. Nobel, J. 

Pritchard, I. Rusyn, J. Thomas, W. Winckler, F. Wright, 

J. Zhu, GTEx Consortium. 

369/5:00 Characterizing the genetic basis of 

transcriptome diversity in a large RNA sequencing 

study. A. Battle, S. Mostafavi, X. Zhu, 

S. B. Montgomery, J. B. Potash, M. M. Weissman, 

C. Haudenschild, C. McCormick, R. Mei, A. E. Urban, 

D. F. Levinson, D. Koller. 

370/5:15 Genetic and molecular basis of RNA-DNA 

sequence differences in humans. V. G. Cheung, 

A. Bruzel, L. McDaniel, A. L. Richards, J. M. Toung, 

I. X. Wang. 

371/5:30 Characterizing gene expression variation 

across seven diverse human populations. 

A. R. Martin, H. A. Costa, J. M. Kidd, B. M. Henn, 

M. C. Yee, F. Grubert, S. B. Montgomery, H. M. Cann, 

M. P. Snyder, C. D. Bustamante. 

372/5:45 Comparative eQTL analyses within and 

between seven tissue types suggest mechanisms 

underlying cell type specificity of eQTLs. 

B. Engelhardt, C. Brown. 

373/6:00 Identification of novel genetic 

determinants of induced innate immune responses 

and context specific eQTL in human primary 

monocytes. B. P. Fairfax, S. Makino, J. C. Knight. 

374/6:15 Gene-level and exon-level expression QTL 

signals in the UK Brain Expression Consortium 

dataset. M. E. Weale, A. Ramasamy, D. Trabzuni, 

R. Walker, C. Smith, M. Ryten, J. Hardy, UK Brain 

Expression Consortium. 

375/6:30 First complete haplotype of the human 

immunoglobulin heavy chain locus from a single 

individual and characterization of novel allelic and 

structural variation. K. Meltz Steinberg, 

C. T. Watson, J. Huddleston, P. H. Sudmant, 

R. L. Warren, M. Malig, J. Schein, A. J. Willsey, 

J. B. Joy, J. K. Scott, T. Graves, R. K. Wilson, 

R. A. Holt, F. Breden, E. E. Eichler. 



4:30 PM–6:45 PM 



SESSION 64 – Epigenetics 


Moderators: Bernd Wollnik, Univ of Cologne, Germany; 

Beth A. Sullivan, Duke Univ. 

376/4:30 The epitranscriptome reveals novel 

mechanisms of RNA regulation and spatiotemporal 

dynamics. C. E. Mason, K. Meyer, Y. Saletore, P. 

Zumbo, O. Elemento, S. Jaffrey. 

377/4:45 Epigenome-wide profiling of circulating 

DNA in colorectal cancer. R. Cortese, Y. Li, A. Kwan, 

B. Zanke, Z. Zhang, A. Petronis. 

378/5:00 Alterations in genomically imprinted 

miRNA and snoRNA clusters in a mouse model of 

fetal alcohol spectrum disorders. B. I. Laufer, 

K. Mantha, M. L. Kleiber, E. J. Diehl, S. M. F. Addison, 

S. M. Singh. 

379/5:15 KDM6A escapes X-inactivation and 

controls expression of reproduction-related 

homeobox genes in female ES cells and ovary: 

Deficiency may explain embryonic and ovarian 

failure in Turner. C. M. Disteche, J. B. Berletch, 

X. Deng, D. Nguyen. 

380/5:30 Genome-wide scan of DNA methylation 

in the aging brain and its relation to Alzheimer’s 

disease. P. L. De Jager, G. Srivastava, M. L. Eaton, L. 

E. Chibnik, B. Keenan, N. Taner, A. Myers, 

B. Bernstein, A. Meissner, M. Kellis, D. A. Bennett. 

381/5:45 RNA-mediated transcriptional silencing in 

Friedreich ataxia. Y. K. Chutake, A. M. Castro, 

S. I. Bidichandani. 

382/6:00 P53 regulates 5-hydroxymethylcytosinemediated 

epigenetic landscape through GADD45A. 

Y. Li, Y. Zhu, K. Szulwach, L. Lin, C. Street, H. Wu, 

D. Chen, P. Jin. 

383/6:15 Maps of open chromatin highlight cell 

type-specific patterns of regulatory sequence 

variation at hematological trait loci. C. A. Albers, 

D. S. Paul, A. Rendon, K. Voss, J. Stephens, P. van der 

Harst, J. C. Chambers, N. Soranzo, W. H. Ouwehand, 

P. Deloukas, HaemGen Consortium. 

384/6:30 Functional epialleles at an endogenous 

human centromere. B. A. Sullivan, K. A. Maloney, 

L. L. Sullivan, E. D. Strome, J. Matheny. 





4:30 PM–6:45 PM 



SESSION 65 – Advances in Ocular Genetics 


Moderators: Erica Davis, Duke Univ. Med. Ctr; Arupa 

Ganguly, Univ. of Pennsylvania 

385/4:30 Rare insertion polymorphisms identified 

by exome sequencing may be associated with agerelated 

macular degeneration. L. Farrer, J. Kozubek, 

M. Schu, J. Farrell, M. Morrison, K. Mayne, D. Morgan, 

R. Robinson, A. Swaroop, D. Schaumberg, K.-H. Park, 

E. E. Tsironi, G. Silvestri, I.-K.. Kim, R. Chen, C. Huff, 

G. Jun, M. deAngelis. 

386/4:45 The role of SIX6 in primary open-angle 

glaucoma. M. Ulmer, B. Whigham, D. Parker, X. Qin, 

N. Katsanis, Y. Liu, A. Ashley-Koch, R. R. Allingham, 

M. Hauser, NEIGHBOR Consortium Investigators. 

387/5:00 Topical ocular sodium 4-phenylbutyrate 

rescues glaucoma in a mouse model of primary 

open angle glaucoma. G. S. Zode, K. E. Bugge, 

E. M. Stone, V. C. Sheffield. 

388/5:15 Meta-analysis of GWAS on corneal 

thickness identifies a total of 27 associated loci, 

including six risk loci for eye disease keratoconus. 

S. Macgregor on behalf of CCT Consortium. 

389/5:30 Mouse models reveal an essential role 

for RERE in eye development. B. Kim, Z. Yu, O. 

Shchelochkov, M. Justice, B. Lee, D. Scott. 

390/5:45 Mutations in the nuclear NAD synthesizing 

enzyme NMNAT1 cause autosomal recessive Leber 

congenital amaurosis with early-onset severe 

macular atrophy and optic atrophy. J. Rozet, 

I. Perrault, S. Hanein, X. Zanlonghi, V. Serre, 

M. Nicouleau, S. Defoort-Delhemmes, N. Delphin, 

L. Fares-Taie, S. Gerber, O. Xerri, C. Edelson, 

A. Goldenberg, A. Duncombe, G. Le Meur, C. Hamel, 

E. Silva, P. Nitschke, P. Calvas, A. Munnich, O. Roche, 

H. Dollfus, J. Kaplan. 

391/6:00 RNA-DNA differences in miRNA 

transcriptome of retina and retinoblastoma. 

A. Ganguly, J. Leipzig, J. Richards, J. Purrazzella, 

T. Ganguly. 

392/6:15 Knock-in of human KIAA0649P in to the 

mouse Rb1 locus: Modeling the mechanism of 

imprinted RB1 expression in humans. L. Steenpass, 

D. Kanber, M. Hiber, K. Buiting, D. Lohmann, 

B. Horsthemke. 

393/6:30 Gene therapy provides long-term 

visual function in a pre-clinical model of retinitis 

pigmentosa. K. J. Wert, R. J. Davis, S. H. Tsang. 


4:30 PM–6:45 PM 



SESSION 66 – Cancer Genetics: Somatic Variants 


Moderators: Charis Eng, Cleveland Clinic; Jennelle 

Hodge, Mayo Clin. 

394/4:30 The genomic landscape of childhood pre- 

B acute lymphoblastic leukemia. J. Spinella, 

R. Vidal, J. Healy, V. Saillour, E. Bareke, C. Richer, 

S. Busche, B. Ge, T. Pastinen, D. Sinnett. 

395/4:45 Genomic analysis of serial chronic 

lymphocytic leukemia samples suggests that 

epigenetic changes, rather than clonal evolution, 

drive progression of disease. E. N. Smith, 

C. DeBoever, L. Rassenti, E. Ghia, S. Rozenzhak, 

P. Shepard, H. Alakus, O. Harismendy, C. Barrett, 

T. J. Kipps, K. A. Frazer. 

396/5:00 Whole-genome sequencing of liver 

cancers identifies etiological influences on 

mutation patterns and recurrent mutations in 

chromatin regulators. A. Fujimoto, Y. Totoki, T. Abe, 

K. A. Boroevich, F. Hosoda, H. H. Nguyen, M. Aoki, 

N. Hosono, M. Kubo, F. Miya, Y. Arai, H. Takahashi, 

T. Shirakihara, M. Nagasaki, T. Shibuya, K. Nakano, 

K. Watanabe-Makino, H. Tanaka, H. Nakamura, K. 

Chayama, N. Kamatani, S. Miyano, H. Nakagama, 

Y. Nakamura, T. Tsunoda, T. Shibata, H. Nakagawa. 

397/5:15 Breast cancer evolution revealed by deep 

whole-genome sequencing of early neoplasias and 

their concurrent carcinomas. A. Sidow, D. Kashef- 

Haghighi, D. Newburger, Z. Weng, T. Sweeney, 

S. Batzoglou, R. West. 

398/5:30 Intra-tumor genetic heterogeneity in 

cancer tissues: The key to assessing its 

significance is the distribution profile of gene 

variants not just their presence in tumors. 

B. Gottlieb, C. Alvarado, C. Wang, B. Gharizadeh, 

F. Babrzadeh, L. K. Britel, M. Trifiro. 

399/5:45 Next generation sequencing and 

chromosomal microarray analysis provide novel 

insight into the genomic landscape of metastatic 

breast cancer. M. Li, Y. Wen, E. Fang, Y. Li, P. Chen, 

G. Douglas, C. Carmack, K. Osborne. 

400/6:00 The 3D topographic mapping of genetic 

variations in treatment of naïve advanced ovarian 

cancer.E. Cuppen, M. de Pagter, M. Hoogstraat, 

G. Cirkel, J. Kreeftmeijer, C. Lee, E. Levandowsky, 

T. Guy, K. Duran, R. `t Slot, T. Jonges, S. van Lieshout, 

M. Lolkema, R. Zweemer, M. Koudijs, I. Nijman, 

E. Voest, T. Harkins, W. Kloosterman. 

401/6:15 Transcriptome sequence analysis of 

human colorectal cancer samples to reveal 

functional attributes. H. Ongen, T. F. Orntoft, 

B. Oster, L. Romano, A. Planchon, C. L. Andersen, 

E. T. Dermitzakis. 



4:30 PM–6:45 PM 


Session E (59-67) (SESSION 66, continued) 

402/6:30 Regulatory regions are somatic mutation 

cold spots in cancer genomes. S. Sunyaev, P. Polak, 

M. S. Lawrence, R. E. Thurman, N. Stoletzki, P. 

Stojanov, E. Rynes, L. A. Garraway, S. Mirkin, G. Getz, 

J. A. Stamatoyannopoulos. 



4:30 PM–6:45 PM 



SESSION 67 – Developmental Insights into Human 

Malformations 


Moderators: Lucy Osborne, Univ. of Toronto, Canada; 

Rhona Schreck, Cedars-Sinai Med Ctr. 

403/4:30 TECTONIC3 mutations cause 

orofaciodigital syndrome type IV (Mohr-Majewski). 

S. Thomas, M. Legendre, S. Saunier, B. Bessières, 

C. Alby, M. Bonnière, A. Toutain, L. Loeuillet, K. 

Szymanska, F. Jossic, D. Gaillard, M. Tahar Yacoubi, 

S. Mougou-Zerelli, A. David, M.-A. Barthez, Y. Ville, C. 

Bole-Feysot, P. Nitschke, A. Munnich, C. A. Johnson, 

F. Encha-Razavi, V. Cormier-Daire, C. Thauvin-Robinet, 

M. Vekemans, T. Attié-Bitach. 

404/4:45 Abnormal development of NG2+PDGFR � + 

neural progenitor cells causes neonatal 

hydrocephalus in a ciliopathy mouse model. C . S. 

Carter, T. W. Vogel, Q. Zhang, T. O. Moninger, D. R. 

Thedens, K. M. Keppler-Noreuil, D. Y. Nishimura, C. C. 

Searby, K. Bugge, V. C. Sheffield. 

405/5:00 Malformation of the brain cortex, as the 

only expression of a ciliopathy, results from 

mutation in human Rotatin. G. M. S. Mancini, F. W. 

Verheijen. 

406/5:15 Whole exome resequencing identifies 

mutations in LRRC6 as a novel single-gene cause 

of primary cliary dyskinesia. M. Chaki, H. Y. Gee, E. 

A. Otto, K. Diaz, T. W. Hurd, J. Halbritter, S. J. Allen, 

M. B. Zariwala, M. R. Knowles, F. Hildebrandt. 

407/5:30 Temporally and spatially resolved 

catalogues of in vivo forebrain enhancers. A. S. 

Nord, L. Taher, J. Akiyama, M. J. Blow, A. Holt, R. 

Hosseini, S. Phouanenavong, I. Plajzer-Frick, M. 

Shoukry, V. Afzal, E. M. Rubin, I. Ovcharenko, J. L. R. 

Rubenstein, L. A. Pennacchio, A. Visel. 

408/5:45 SRY regulation of the RET gene suggests 

a potential role of the Y-chromosome gene in 

sexual dimorphism in Hirschsprung disease. Y. Li, 

Z. L. Tabatabai, M.-M. Garcia-Barceló, P. K. H. Tam, 

Y.-F. C. Lau. 

409/6:00 MAP3K1 mutations in 46 XY DGDs alter 

crosstalk in downstream signal transduction 

pathways to cause abnormal human gonadal 

development. J. Loke, A. Pearlman, H. Ostrer. 

410/6:15 Soft tissue aspects of the Williams-Beuren 

syndrome facial phenotype can be attributed to 

GTF2IRD1. S. J. Palmer, C. P. Canales, P. Carmona- 

Mora, P. Kaur, P. W. Gunning, E. C. Hardeman. 

411/6:30 Notch gain of function inhibits 

chondrocyte differentiation via Rbpj-dependent 

suppression. S. Chen, J. Tao, Y. Bae, M. Jiang, T. 

Bertin, Y. Chen, T. Yang, B. Lee. 





8:00 AM–8:20 AM 

SESSION 68 – ASHG Award for Excellence in Human 



The ASHG Award for Excellence in Human Genetics 

Education was established to recognize those who 

have made significant contributions of exceptional 

quality and great importance to human genetics 

education. 

Introduction: 

Kay Davies, Univ. of Oxford 

Recipient: 

Alan E. H. Emery, MD, PhD, DSc 

Em. Prof. of Human Genetics, 

Univ. of Edinburgh; Hon. Fellow, 

GreenTempleton Col., 

Univ. of Oxford 

Professor Emery is being recognized for his 

distinguished work in education through lecturing, 

mentoring, establishment of programs, and for his 

writings, which include over 400 peer-reviewed articles 

and 26 books on all aspects of human and medical 

genetics (as well as poetry and the relationship 

between Medicine and Art). Indeed, Professor Emery 

has been one of the most prolific authors of important 

genetics texts in the world. 

His books have covered all aspects of medical 

genetics, prenatal diagnosis, genetic counseling, 

statistics, molecular genetics, and historical 

perspectives. His texts including Elements of Medical 

Genetics (general), Methodology in Medical Genetics 

(statistics), Introduction to Recombinant DNA 

(molecular genetics) and Principles and Practice of 

Medical Genetics with David Rimoin (medical), remain 

among the most important texts in their fields. One of 

his textbooks has been republished in twelve editions 

and translated into seven languages. Professor Emery 

was the first to describe a form of muscular dystrophy 

now referred to as Emery-Dreifuss Muscular Dystrophy 

(EDMD or EMD) and the defective protein Emerin is 

named after him. 

Among his many accolades, Professor Emery is a 

fellow or honorary fellow in ten different societies, 

including the Royal Society of Medicine and the Royal 

Society of Arts. Emery has also received many 

awards, including the Lifetime Achievement Award 

from the World Federation of Neurology and the 

Cockcroft Medal from the University of Manchester, 

plus several honorary degrees. For many in the field of 

human genetics, Professor Emery is simply known as 

“the expert.” 

Past Recipients: Giovanni Romeo (2011); Thomas 

Gelehrter (2010); Bruce Korf (2009); John Carey, 

Lynn Jorde & Louisa Stark (2008); Robert Elston 

(2007); Roberta Pagon (2006); Joseph McInerney 

(2005); Robert Gorlin (2004); Joan Marks (2003); Kurt 

Hirschhorn (2002); Charles Scriver (2001); F. Clarke 

Fraser (2000); Arno Motulsky (1999); C.C. Li (1998); 

Victor McKusick (1997); Barton Childs (1996); Margaret 

Thompson (1995). 



8:20 AM–8:40 AM 

SESSION 69 – ASHG Victor A. McKusick Leadership 

Award Presentation 


ASHG established this prestigious award in honor of 

Dr. Victor A. McKusick and his inspiring contributions 

to the human genetics field. The McKusick Leadership 

Award is presented to an individual whose 

professional achievements have fostered and enriched 

the development of the field of human genetics. 

Recipients of this award exemplify the enduring 

leadership and vision required to ensure that the field 

of human genetics will flourish and successfully 

assimilate into the broader context of science, 

medicine, and health. 

Introduction: 

Joann A. Boughman, Univ. Syst. of Maryland 

Recipient: 

Francis S. Collins, MD, PhD 

Director, National Institutes of Health 

Dr. Collins has been named as the 2012 winner in 

recognition of his extensive achievements in genetics 

research, his efforts to advance health science 

and technology through policy and education, and 

his stellar leadership of the genetics community in 

mapping the human genome. The revolution that was 

dreamed of at the start of the Human Genome Project 

is currently being realized. Today’s medical geneticists, 

genetic counselors, and other health professionals are 

increasingly able to identify and test genes associated 

with both single-gene and complex disease. Today’s 

medical researchers are increasingly able to 

investigate treatments and therapies for diseases with 

genetic causes. These medical and scientific advances 

would not have been possible without Dr. Collin’s 

leadership and dedication to studying the molecular 

genetics of diseases, for the benefit of health and 

medicine. 

During the completion of the NIH-based Human 

Genome Project, Dr. Collins served as the Director of 

the National Human Genome Research Institute. 

However, prior to taking on that leadership role, he 

had already contributed much to human genetics. He 

took part in the identification of the gene for cystic 

fibrosis in 1989, the gene for neurofibromatosis in 

1990, and the gene for Huntington’s disease in 1993. 

His laboratory is known for its past and continuing 

focus on the function of genes involved in breast 

cancer, diabetes, Hutchinson-Gilford progeria 

syndrome, and many other conditions. In 2008, Dr. 

Collins stepped down from the NHGRI, and less than 


year later, he was chosen by President Obama to 

serve as the director of the National Institutes of 

Health. 

Dr. Collins has received many awards for his 

achievements in science and technology, including the 

Presidential Medal of Freedom in November 2007, the 

National Medal of Science in 2009, and election into 

the Institute of Medicine and the National Academy of 

Sciences. 

Dr. Collins has also made “singing for science” an 

emphasis of his professional career. His efforts in 

education and outreach are commended by many. 

These efforts include, among many others, creating 

clinical partnerships with four historically black 

colleges and universities to develop clinical research 

degrees and conduct treatment trials among minority 

patients, and establishing the National Center for 

Advancing Translational Sciences to enhance the 

process of translating scientific discoveries into new 

drugs, diagnostics, and devices. Dr. Collins continues 

to play a vital role in the advancement of genetics and 

medical research and the improvement of health and 

medicine. 

Past Recipients: Leon E. Rosenberg (2011); Charles J. 

Epstein (2010); Arno G. Motulsky (2009); Victor A. 

McKusick (2008); Walter Nance (2007); David Rimoin 

(2006). 





8:40 AM–8:45 AM 

SESSION 70 – AJHG C.W. Cotterman Awards 

Announcement 


Presenter: David L. Nelson, Editor, The American 

Journal of Human Genetics 

Baylor Col. of Med 

Each September, the editorial board of The American 

Journal of Human Genetics elects two articles 

published in the journal in the previous year that best 

represent outstanding scientific contributions to the 

field of human genetics. Two Cotterman Awards are 

given annually. Monetary awards of $1000 and a 

certificate will be presented to the recipients for the 

top two papers published in the Journal during the 

previous year on which the first author was either a 

pre- or postdoctoral trainee and an ASHG member. 


8:45 AM–8:55 AM 

SESSION 71 – ASHG Charles J. Epstein Trainee Awards 

for Excellence in Human Genetics Research: 

Announcement of Winners 


Presenter: C. E. Pearson, Awards Committee Chair 

Hosp. for Sick Children 

ASHG honors excellence in research conducted by 

predoctoral and postdoctoral trainees, including 

genetic counseling trainees, through merit-based 

awards that recognize highly competitive abstracts 

submitted for the Annual Meeting. These awards were 

renamed in 2012 to honor the late Dr. Charles Epstein. 

60 Semifinalists were selected based on abstract 

score and awarded complimentary registration plus 

$750 each. Of those semifinalists, 18 finalists (selected 

by the Awards Committee) received an additional 

$250. The finalists’ presentations were reviewed by the 

ASHG Awards Committee and volunteer judges during 

the Annual Meeting. 

Six winners announced today will receive an additional 

$1000 each. 

Members of the Awards Committee are Christopher 

Pearson, Chair; Goncalo Abecasis, Georgia Dunston, 

Maximilian Muenke, Pragna Patel, Sharon Plon. 



8:55 AM–9:20 AM 

SESSION 72 – ASHG Curt Stern Award Presentation 


The Curt Stern Award is given annually by ASHG in 

recognition of major scientific achievement in human 

genetics that has occurred in the last 10 years. 

The work could be a single discovery or a series of 

contributions on similar or related topics. This Award 

honors the memory of Dr. Curt Stern (1902-1981), an 

outstanding pioneer in human genetics who served as 

ASHG president in 1956. 

Introduction: 

Evan Eichler, Univ. of Washington 

Recipient: 

Jay A. Shendure, MD, PhD 

Assoc. Prof., Dept. of Genome 

Sciences, Univ. of Washington 

Dr. Shendure was selected for his outstanding 

contributions to the broad development and 

application of exome sequencing and its truly 

revolutionary effects on human genetics, as well as for 

the development of methods for high-throughput 

functional analysis of non-coding areas of DNA. This 

work has been - and will continue to be - of great 

impact to human disease gene discovery and 

understanding in clinical genetics. Importantly, these 

contributions have permitted individual (particularly 

small) clinical and laboratory groups to make 

significant contributions to our understanding of 

disease. Most recently, Dr. Shendure and colleagues 

non-invasively sequenced the whole genome of a 

fetus, using DNA from the blood of the mother and the 

saliva of the father. This work will lead to major 

changes in prenatal diagnosis as the field moves 

toward non-invasive yet comprehensive testing. Dr. 

Shendure is one of the most promising young 

scientists in our genetics community. He will certainly 

continue to lead the way in developing techniques that 

will have great impact on patients. 

Past Recipients: David Altshuler (2011); Vivian Cheung 

(2010); David Haussler and James Kent (2009); Evan 

Eichler (2008); Jeffrey Murray (2007); Hal Dietz (2006); 

Patrick Brown (2005); Neil Risch (2004); David Page 

(2003); James Lupski (2002); Daniel Pinkel and Joe 

Gray (2001). 



9:40 AM–11:40 AM 

Concurrent Invited Session III (73-80) 

SESSION 73 – Returning Results from Large-Scale 

Sequencing: Where the Rubber Meets the Road 


Center 

Moderators: Leslie G. Biesecker, NHGRI/NIH; Robert 

C. Green, Brigham and Women’s Hosp. 

Medicine is on the brink of a revolution, as large-scale 

medical sequencing (LSMS) is now available for 

patient care, marking the dawn of genomic medicine. 

LSMS may be used in patients with a family history or 

symptoms of a disease for diagnosis or to predict 

future health risks for prevention and surveillance. 

Developing standards and procedures for the use of 

LSMS in clinical medicine is critical and there is a 

need for empiric data to determine how to interpret, 

analyze, and return results. A critical question is how 

to handle secondary findings from LSMS. Speakers in 

this session will share their pioneering research 

initiatives that explore the translation of LSMS into 

meaningful clinical information and the delivery to 

patients. The speakers will report on a range of 

studies, including patients ascertained with diseases, 

healthy volunteers, adults, and children, research 

versus clinical, and rare versus common disease. All of 

the speakers will focus on results, and not just 

opinions, to inform the practice of genomic medicine 

and future research studies on the return of results. Dr. 

Biesecker will introduce the session and present 

ClinSeq, a large cohort LSMS study with return of 

results to subjects. Dr. Green will present the results of 

two efforts to formulate consensus on return of 

incidental findings in LSMS. Dr. Kingsmore will present 

experience with neonatal and pediatric diagnosis by 

LSMS. Finally, Dr. Veltman will present the results of 

a pilot using LSMS to diagnose genetically 

heterogeneous diseases with required return of all 

medically relevant results. 

9:40 AM ClinSeq: A pilot study of large-scale 

medical sequencing in research and implications 

for clinical genomic medicine. L. G. Biesecker. 

NHGRI/NIH. 

10:10 AM Expert concordance and discordance for 

return of incidental findings from whole genome 

sequencing. R. C. Green. Brigham and Women’s 

Hosp. 

10:40 AM Using next-generation sequencing for 

carrier testing for severe childhood recessive 

diseases. S. F. Kingsmore. Children’s Mercy Hosp., 

Kansas City, KS. 

11:10 AM Diagnostic implementation of exome 

sequencing: Results from 500 patients. J. Veltman. 

Genomic Disorders Nijmegen, Netherlands. 





9:40 AM–11:40 AM 


SESSION 74 – Genomic Approaches to Mendelian 

Disorders 


Moderators: Jay Shendure, Univ. of Washington; David 

Valle, Johns Hopkins Univ. Sch. of Med. 

Although the gene(s) underlying approximately 3,000 

Mendelian disorders are known, there are thousands 

of well-defined or suspected Mendelian disorders for 

which the genetic basis remains unknown. The past 

three years have been witness to an explosion of 

interest in applying new technologies such as exome 

and genome sequencing to identify the genetic basis 

of Mendelian disorders that have proven intractable to 

conventional strategies. In this session, we will 

describe the progress as well as current challenges 

facing efforts to scale and accelerate the application of 

next-generation technologies to Mendelian disorders, 

e.g. the U.S.-based Mendelian Genome Centers as 

well as related international efforts. Topics that will be 

explored include primary research results from leading 

groups in this field; advances and ongoing challenges 

in phenotype curation, sequencing technology, and 

data analysis; and the broader implications of these 

efforts for biology and medicine. 

9:40 AM Genomic approaches to Mendelian 

disorders. D. Valle. Johns Hopkins Univ. Sch. of Med. 

9:55 AM FORGE Canada: A nation-wide effort to 

understand the genomics of childhood disorders. 

K. Boycott. Children’s Hosp. of Eastern Ontario, 

Canada. 

10:10 AM Current challenges in exome or genomebased 

analysis of Mendelian disorders. J. Shendure. 

Univ. of Washington. 

10:40 AM Lessons from 500 diagnostic exomes. H. 

G. Brunner. Radboud Univ. Nijmegen Med. Ctr., 

Netherlands. 

11:10 AM Genes, genomes and the future of 

medicine. R. Lifton. Yale Univ. 


9:40 AM–11:40 AM 


SESSION 75 – Emerging Applications of Identity by 

Descent Segment Detection 


Center 

Moderators: Sharon R. Browning, Univ. of Washington; 

Brian L. Browning, Univ. of Washington 

Identity by descent (IBD) is fundamental to genetics 

and has diverse applications. Recently developed 

statistical methods and genome-wide SNP data have 

made it possible to detect haplotypes shared 

identically by descent between individuals with 

common ancestry up to 25-50 generations ago. With 

sequence data, shared haplotypes from even more 

distant ancestry can be detected. Patterns of IBD 

segment sharing within and between populations 

reveal important population demographic features 

including recent effective population size and migration 

patterns. IBD segment sharing is directly relevant to 

disease gene mapping and estimation of heritability. 

Individuals who share a genetic basis for a trait are 

more likely to have IBD sharing compared to randomly 

chosen individuals, and this forms the basis for IBD 

mapping and heritability estimation. Analysis of data 

from extended pedigrees was extremely difficult with 

standard linkage approaches, but is now possible 

using approaches based on detected IBD segments. 

Detected IBD can be present across pedigrees, which 

enhances power to detect association with the trait. 

Further, in population samples there is potential to 

utilize detected IBD segments to improve power to 

detect association when multiple variants within a 

gene influence the trait. IBD segments can also be 

used to greatly improve haplotype phase estimates, 

which is critical to understanding the functional 

consequence of genetic variation. IBD-based longrange 

phasing has previously been shown to be 

effective in isolated populations such as Iceland, but 

recent advances have extended its application to large 

outbred populations. In this session, we explore these 

exciting new developments. 

9:40 AM Sharing by descent, phasing, rare 

variants and population structure. A. Kong. deCODE 

Genet., Reykjavik, Iceland. 

10:10 AM Length distributions of identity by 

descent reveal fine-scale demographic history. 

I. Pe’er. Columbia Univ. 

10:40 AM Identity by descent within and between 

pedigrees. E. A. Thompson. Univ. of Washington. 

11:00 AM Using high resolution identity by descent: 

From detecting selection to explaining trait 

variability. M. Abney. Univ. of Chicago. 

11:20 AM Extending the limits of IBD segment 

detection with sequence data and new statistical 

methods. B. L. Browning. Univ. of Washington. 



9:40 AM–11:40 AM 


SESSION 76 – The Functional Consequences of 

microRNA Dysregulation in Human Disease 


Moderators: Cheryl L. Thompson, Case Western 

Reserve Univ.; Ahmad Khalil, Case Western Reserve 

Univ. 

MicroRNAs (miRNAs) are an evolutionarily conserved 

class of small non-coding RNAs that have been shown 

to regulate the expression levels of numerous proteincoding 

genes. Although integral to animal biology, their 

role in human disease has only recently been studied. 

Previously, numerous miRNAs have been 

demonstrated to be dysregulated in multiple diseases, 

including cancer, cardiovascular disease, neurological 

disease and many others. However, the exact 

functions and mechanisms of these miRNAs in human 

diseases are yet to be fully elucidated. A number of 

recent studies have now begun to shed light on the 

role of miRNAs in disease, providing insights into 

mechanisms for imitation and progression of disease 

as well as targets for preventive and therapeutic 

intervention. In this session we have assembled a 

group of world leaders in the field of miRNA and 

human diseases. The speakers will discuss their latest 

research on miRNAs, which will cover a range of 

topics from targets of miRNAs, animal models of 

miRNA action as well as the role of circulating miRNAs 

in diagnostics. 

9:40 AM OncomiR-1 in cancer and development: 

A tale of mice and men. A. Ventura. Sloan-Kettering 

Inst. 

10:10 AM microRNA reprogramming in cancer: 

Mechanisms and consequences. J. Mendell. Univ. of 

Texas Southwestern Med. Ctr. 

10:40 AM Exploring circulating miRNAs as bloodbased 

diagnostic biomarkers. M. Shapero. 

Affymetrix, Santa Clara, CA. 

11:10 AM Circulating microRNAs in obesity and 

postmenopausal breast cancer. C. L. Thompson. 

Case Western Reserve Univ. 



9:40 AM–11:40 AM 


SESSION 77 – Centralizing the Deposition and Curation 

of Human Mutations 


Moderators: Robert L. Nussbaum, UCSF; David H. 

Ledbetter, Geisinger Hlth. Syst., Danville, PA 

Hundreds of thousands of disease-causing variants 

have been identified in patients with disease, yet only 

a small fraction of that data, and the interpretation of 

it, is accessible to researchers and clinicians. The 

centralization of data on human genomic variation is a 

critical step in accelerating advances within the field of 

genomic medicine. Such centralization of variant data 

will not only enable more efficient approaches to data 

analysis, but will also ensure the use of a uniform set 

of standards across the many communities 

contributing data and intending to use the resources 

for research and clinical applications. This session will 

highlight groups that have recently joined efforts 

to solve this challenge and create a free and useful 

human genomic mutation database for the community. 

9:40 AM Improving the accuracy of variant 

identification. D. Church. NLM/NIH. 

10:10 AM The ISCA Consortium: Standardization 

and sharing of structural variation data. C. L. 

Martin. Emory Univ. Sch. of Med. 

10:40 AM Introducing ClinVar. D. Maglott. NCBI, 

NLM/NIH. 

11:10 AM Community involvement in centralized 

mutation curation. H. L. Rehm. Harvard Med. Sch. 





9:40 AM–11:40 AM 


SESSION 78 – Stem Cells and Personalized Medicine 


Moderator: Stephen H. Tsang, Columbia Univ. 

Speakers will discuss applications of patient-specific 

and disease-specific stem cell lines, including disease 

modeling, drug screening, and regenerative medicine. 

Panelists will bring experience in clinical genetics, 

genetic manipulation in stem cells, and disease 

modeling. The FDA has recently approved phase I/II 

clinical trials to investigate the safety and efficacy of 

embryonic stem cell-based retinal cell transplantation, 

but such therapy requires immunosuppression. 

Patient-specific stem cells may offer an alternative to 

embryonic stem cells that will skirt the need for 

immunosuppressive therapy as well as the social and 

political ramifications of embryonic stem cell research, 

but their utility even extends far beyond such 

groundbreaking advances. 

9:40 AM Stem cells and personalized medicine in 

retinal degenerations. S. H. Tsang. Columbia Univ. 

10:10 AM Direct reprogramming to generate 

patient-specific stem cells and neurons. M. Wernig. 

Stanford Sch. of Med. 

10:40 AM A chemical approach to controlling cell 

fate. S. Ding. UCSF. 

11:10 AM Patient-specific stem cells and 

cardiovascular genetics. B. Conklin. UCSF. 


9:40 AM–11:40 AM 


SESSION 79 – Should Noninvasive Prenatal Diagnosis 

Augment or Replace Current Prenatal Screening and 

Diagnosis? 


Moderators: Mark E. Nunes, Kaiser Permanente, San 

Diego; Mildred K. Cho, Stanford Univ. 

The discovery of circulating cell-free fetal nucleic acid 

(cffDNA) in maternal blood plasma in 1997 allowed for 

the development of noninvasive prenatal diagnosis 

(NIPD) offered commercially in a medical setting in 

North America beginning in October 2011. From the 

initial discovery, ethical issues were raised in that 

the method could most easily be validated seeking 

circulating Y chromosome transcripts. The method 

subsequently has been validated for fetal Rh typing 

and fetal aneuploidy, but the next-generation 

sequencing methods used to analyze cffDNA allow 

any Mendelian trait or disorder with a known gene to 

be detected by the method. This technology 

convergence, coupled with the test being offered at 

10-weeks gestation, could provide a level of access 

and choice in women’s reproductive decision making 

unprecedented since the introduction of oral 

contraception. We will briefly introduce the topic, and 

then debate the ethical, legal, and social issues of 

broadening the scope and availability of NIPD. The 

technique will be placed in the context of the history 

of seeking fetal markers and cells in maternal 

circulation. The ethical context will be outlined, with 

competing issues of autonomy and societal interest. 

The legal context, within the current debate 

surrounding reproductive freedom, will be discussed. 

The possible impact on society and medical practice 

will be described. 

9:40 AM Lessons from the clinical introduction of 

noninvasive prenatal diagnosis: How we got here. 

A. T. Bombard. Sequenom Inc., San Diego. 

10:05 AM Cell-free fetal DNA in prenatal diagnosis: 

Where we are going? D. Bianchi. Tufts Univ., Boston. 

10:30 AM Academia and industry in the 

development of noninvasive prenatal diagnosis. M. 

K. Cho. Stanford Univ. 

10:55 AM Ethical and policy implications of early 

noninvasive prenatal diagnosis. J. S. King. UC 

Hastings Col. of the Law, San Francisco. 

11:20 AM Discussion. M. E. Nunes. Kaiser 

Permanente, San Diego. 



9:40 AM–11:40 AM 


SESSION 80 – Selection Signatures and the Genetics 

of Autoimmunity and Infectious Diseases 


Moderators: Judy H. Cho, Yale Univ.; Richard A. 

Spritz, Univ. of Colorado Denver Anschutz Med. 

Campus 

The overlap of autoimmune and infectious disease loci 

is one of the seminal findings of the GWAS era. The 

presence of a relatively limited and recurring number 

of major autoimmune and infectious disease- 

associated genes and pathways may well correspond 

with functional networks that evolved in response to 

historically significant infectious pathogens. It may be 

speculated that the plethora of common functional 

polymorphisms identified through GWAS in 

autoimmune diseases evolved through positive 

selection; in subsequent eras and environmental 

conditions, these once beneficial polymorphisms 

confer increased susceptibility to autoimmunity. 

Support for this concept is provided by the 

observation that uncommon, often highly penetrant, 

mutations in overlapping genes and pathways are 


associated in infectious diseases such as severe 

mycobacterial infections. Predictive functional 

networks may be optimized by integration of 

complementary data sources, notably selection 

signatures. Novel approaches of identifying signatures 

of positive selection at single and multiple loci will 

require integration of genetic association data with 

biologic data that optimally models relevant selection 

conditions. 

9:40 AM Genetics and Autoimmunity. J. H. Cho. 

Yale Univ. 

9.55 AM The genetics of autoimmunity. R. A. 

Spritz. Univ. of Colorado Denver. 

10:10 AM Selection signatures and mechanisms of 

host-microbe interactions. P. Sabeti. Harvard Univ. 

10:40 AM Interactions of HLA class I with killer-cell 

immunoglobulin-like receptors: Influences on 

human disease. P. Parham. Stanford Univ. 

11:10 AM Toward a genetic theory of infectious 

diseases. J.-L. Casanova. Rockefeller Univ. 





12:00 NOON–1:00 PM 

SESSION 81 – Closing Plenary: Human Genetics 2012 

and Beyond: Present Progress and Future Frontiers 


Moderator: Joel N. Hirschhorn, 2012 Program 

Committee Chair Boston Children’s Hosp., 

Harvard Med. Sch. and Broad Inst. 

Presenter: Chris Gunter, HudsonAlpha Inst. for Biotechnol. 

Panelists: 

Han Brunner 

Radboud Univ. Nijmegen 

Jay Shendure 

Univ. of Washington 

Dian Donnai 

Univ. of Manchester 

Lynn Jorde 

Univ. of Utah 

Hal Dietz Johns 

Hopkins Univ. 

An outstanding panel of expert human geneticists 

with varying perspectives will make will make brief 

presentations and then participate in a wide-ranging 

discussion on the most exciting advances and 

important upcoming challenges in their areas of 

human genetics. Topics will be driven by questions 

from the panelists and the audience, but will include 

many of the following perspectives: 

• The importance of education for the public, 

scientists, and clinicians 

• The impact of new technology on human genetics 

and genomics 

• Advances that define biological mechanisms 

• Challenges of interpretation of exome and genome 

sequencing 

• Translation of advances into clinical care 

During the course of the 62nd Annual Meeting, 

registrants are encouraged to post their thoughts on 

scientific or clinical advances they have heard about at 

the meeting, and on upcoming important challenges 

in human genetics, via ASHG’s social media outlets 

(Twitter, Facebook). 

Twitter: Use hashtag #ASHG2012 

Facebook: https://www.facebook.com/GeneticsSociety 

You can also address your comments through Twitter 

directly to Chris Gunter, @girlscientist, during the 

meeting. 

Posts by meeting participants will be followed and 

summarized at the beginning of the session by Chris 

Gunter, 2012 Program Committee Member. 

After the brief presentations by the panelists, there will 

be opportunities for audience members to ask questions 

of one or more panel members. 

At the conclusion of the session, the moderator will 

provide a brief summary, and the meeting will be 

adjourned by the 2012 President, Mary-Claire King. 


POSTER SESSIONS 

Moscone Center, Exhibit Hall, Lower Level South 

POSTER SESSIONS 125 

The program and abstract/poster board number next to each listing is followed by a W (Wednesday), or 

T (Thursday), or F (Friday) to indicate the day on which authors must be present at their poster boards. To 

encourage discussion and to facilitate the exchange of information, posters are sorted by related topics. 

Refer to the schedule below for presentation times and for the poster mounting/removal schedule. Posters 

should remain up all three days. 


10:00 am – 10:30 am Authors place posters on boards. Posters should remain up for all three days 

10:00 am – 4:30 pm Posters open for viewing 

2:15 pm – 4:15 pm Poster Session I (W) 

2:15 pm – 3:15 pm (odd poster board numbers; author must be present) 

3:15 pm – 4:15 pm (even poster board numbers; author must be present) 



2:15 pm – 4:15 pm Poster Session II (T) 





2:15 pm – 4:15 pm Poster Session III (F) 



4:15 pm – 4:30 pm Authors must remove posters 

4:30 pm Exhibit Hall and Posters closed 

NOTE: For safety reasons, no registrant will be admitted into the Exhibit Hall or poster area for any 

reason after 4:30 pm on Friday. No exceptions can be made to this policy. 

IMPORTANT: Do not leave materials or belongings under poster boards or in the poster area. ASHG is not 

responsible for any articles left in the poster area or any other area. 

POSTER SESSIONS

126 POSTER SESSIONS 

Overview of Poster Schedule 

The program number and the abstract/poster board number are one and the same. 

It appears in bold print followed by the letter W (Wednesday), T (Thursday) or F (Friday). 

The title and author names follow. The first author listed is the presenting author. 

Please check the addendum for author changes or cancellations. 

Abstract/Poster 

Board Numbers Session Topic/Title Page 

412-600 Genome Structure, Variation and Function ................................ 127 

601-655 Pharmacogenetics ...................................................................... 134 

656-753 Metabolic Disorders .................................................................... 137 

754-804 Therapy for Genetic Disorders .................................................... 140 

805-854 Development ............................................................................... 143 

855-980 Cytogenetics ............................................................................... 145 

981-1279 Cancer Genetics ......................................................................... 150 

1280-1583 Statistical Genetics and Genetic Epidemiology .......................... 162 

1584-1715 Cardiovascular Genetics ............................................................. 174 

1716-1796 Genetic Counseling and Clinical Testing .................................... 180 

1797-1850 Ethical, Legal, Social and Policy Issues in Genetics .................. 183 

1851-1863 Genetics Education .................................................................... 185 

1864-1877 Health Services Research ........................................................... 186 

1878-2369 Complex Traits and Polygenic Disorders .................................... 187 

2370-2661 Psychiatric Genetics, Neurogenetics and Neurodegeneration ..... 209 

2662-2966 Molecular Basis of Mendelian Disorders .................................... 221 

2967-3034 Prenatal, Perinatal and Reproductive Genetics .......................... 234 

3035-3250 Clinical Genetics and Dysmorphology ........................................ 237 

3251-3414 Evolutionary and Population Genetics ........................................ 245 

3415-3525 Epigenetics ................................................................................. 252 

3526-3735 Bioinformatics and Genomic Technology ................................... 256

Genome Structure, Variation and 

Function 

412W Capture of chromosome conformation changes 

in breast cancer cell lines. C. Liu, C. Woo, P. Yim, S. 

Dong, J. Stevens. 

413F Myc-induced anchorage of the rDNA intergenic 

spacer region to nucleolar matrix modulates growthstimulated 

changes in higher-order rDNA architecture. 

C. Shiue, A. Nematollahi-Mahani, A. Wright. 

414W CENcode: Linear assembly and epigenetic 

annotation of human centromeres. K. E. Hayden, J. 

Kent. 

415F Impact of genetic variation on genome-wide 

epigenetic profiles and gene expression phenotypes. 

A. Reymond, H. Kilpinen, S. Waszak, A. Gschwind, E. 

Migliavacca, R. M. Witwicki, S. Raghav, A. Orioli, L. 

Romano-Palumbo, M. Wiederkehr, S. Turnherr, D. Hacker, 

M. Gutierrez-Arcelus, L. J. Core, J. T. Lis, N. Hernandez, B. 

Deplancke, E. T. Dermitzakis. 

416W Capturing long-range chromatin interactions 

of chromatin regulatory elements. N. Heidari, D. H. 

Phanstiel, W. Soon, M. P. Snyder. 

417F PRDM9 directs genetic recombination away from 

functional genomic elements. K. Brick, F. Smagulova, P. 

Khil, R. D. Camerini-Otero, G. Petukhova. 

418W ATRX interacts with the MRN complex to play 

a key role in the replication of non-canonical DNA 

structures associated with tandem repeats. R. Gibbons, 

D. Clynes, C. Jelinska, H. Ayyub, D. R. Higgs. 

419F Genome-wide copy number variation analysis 

of a branchio-oto-renal syndrome cohort identifies 

a recombination hotspot associated with an EYA1 

deletion and novel candidate genomic regions. F. Alasti, 

P. Brophy, B. Darbro, J. Dierdorff, C. Nishimura, B. Cobb, 

J. Clarke, M. Hakeman, A. Bassuk, R. J. H. Smith, J. R. 

Manak. 

420W Delineation of the reliability of in silico copy 

number variation calls from different Illumina SNP 

arrays. S. Herms, L. Priebe, F. Degenhardt, M. M. 

Noethen, S. Cichon, P. Hoffmann. 

421F The Kaiser Permanente/UCSF Genetic 


Aging: Detecting copy number variation in a multiethnic 

cohort of 100,000. C. Sabatti, Z. Zhang, Y. Banda, 

M. Kvale, T. Hoffman, S. Hesselson, H. Tang, P.-Y. Kwok, 

C. Schaefer, N. Risch. 

422W Genomic copy number variation affects brain 

structure volumes in schizophrenia. T. H. Wassink, 

J. Manak, D. Rudd, E. Epping, F. Fleming, G. Zeien, S. 

Ziebell, B. C. Ho, N. C. Andreasen. 


423F The use of matepair sequencing in the detection 

of structural variation in patients with ID and/or 

congenital anomalies. S. Vergult, E. Van Binsbergen, 

T. Sante, S. Nowak, O. Vanakker, S. Janssens, K. Claes, 

B. Poppe, N. Van der Aa, F. Roelens, A. De Paepe, F. 

Speleman, E. Cuppen, W. Kloosterman, B. Menten. 

424W At the crossroads of structure and function: SNP 

genotypes indexed by copy number yield novel eQTLs. 

L. K. Davis, E. R. Gamazon, N. J. Cox. 

425F Extensive genetic variation in somatic human 

tissues. M. O’Huallachain, K. J. Karczewski, S. Weissman, 

A. E. Urban, M. Snyder. 

426W Copy number variations in a cohort of 

Brazilian sickle cell anemia patients with and without 

cerebrovascular accident. G. Ananina, F. Menaa, M. A. 

Bezerra, A. S. Araujo, P. R. S. Cruz, G. P. Gil, F. F. Costa, 

M. B. Melo. 

427F Prevalence and effects of the obesity associated 

deletion on chromosome 16p11.2 in the Swedish 

Obese Subjects study. J. C. Andersson-Assarsson, S. 

Romeo, L. Sjöström, L. M. S. Carlsson. 

428W Molecular study of the inverted repeats 

responsible for triplication of the PLP1 locus. C. R. 

Beck, C. M. B. Carvalho, J. R. Lupski. 

429F Novel sequence-based CNV detection framework 

allows fine-mapping of the CFH region in 150 Chinese 

Singaporeans with age-related macular degeneration. 

E. Bellos, L. Coin, T. Y. Wong, C. Y. Cheng, G. Cheung, M. 

Hibberd, V. Kumar, S. Davila. 

430W Incidental copy-number variants identified by 

routine genome testing in a clinical population. P. M. 

Boone, Z. T. Soens, I. M. Campbell, P. Stankiewicz, S. W. 

Cheung, A. Patel, A. L. Beaudet, S. E. Plon, C. A. Shaw, A. 

L. McGuire, J. R. Lupski. 

431F Parental age and burden of genomic copy 

number variation. J. Buizer-Voskamp, H. M. Blauw, M. P. 

M. Boks, K. R. Van Eijk, J. H. Veldink, E. A. M. Hennekam, 

J. A. S. Vorstman, F. Mulder, H. Tiemeier, A. G. Uitterlinden, 

L. A. Kiemeney, L. H. Van den Berg, R. S. Kahn, C. Sabatti, 

R. A. Ophoff. 

432W Genome-wide analyses of recurrent genomic 

rearrangements: Identification of three novel genomic 

disorders. P. Dittwald, T. Gambin, P. Szafranski, J. Li, 

R. S. Amato, M. Divon, K. Maliszewski, E. E. Dolgado 

Bohorquez, L. Elton, A. C.-H. Tsai, D. Scott, S.-H. L. 

Kang, A. M. Breman, S. R. Lalani, C. Bacino, W. Bi, A. 

Milosavljevic, J. R. Lupski, A. L. Beaudet, C. A. Shaw, A. 

Patel, A. Gambin, S. W. Cheung, P. Stankiewicz. 

433F DUF1220 domain copy number loss implicated in 

1q21-associated microcephaly. L. Dumas, M. O’Bleness, 

J. Davis, C. M. Dickens, N. Anderson, J. G. Keeney, J. 

Jackson, M. Sikela, A. Raznahan, J. Giedd, J. Rapoport, S. 

S. C. Nagamani, A. Erez, N. Brunetti-Pierri, R. Sugalski, J. 

R. Lupski, T. Fingerlin, S. W. Cheung, J. M. Sikela. 

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present 

POSTER SESSIONS


434W Age-related somatic structural changes in the 

nuclear genome of human blood cells. L. A. Forsberg, 

C. Rasi, H. R. Razzaghian, G. Pakalapati, L. Waite, K. S. 

Thilbeault, A. Ronowicz, N. E. Wineinger, H. K. Tiwari, 

D. Boomsma, M. P. Westerman, J. R. Harris, R. Lyle, 

M. Essand, F. Eriksson, T. L. Assimes, C. Iribarren, E. 

Strachan, T. P. O’Hanlon, L. G. Rider, F. W. Miller, V. 

Giedraitis, L. Lannfelt, M. Ingelsson, A. Piotrowski, N. L. 

Pedersen, D. Absher, J. P. Dumanski. 

435F Genome-wide scan of common copy number 

variant regions in post-traumatic stress disorder. G. 

Guffanti, A. Aiello, M. Uddin, D. Wildman, S. Galea, K. 

Koenen. 

436W Genetic variation among somatic cells revealed 

by single nucleus sequencing. I. M. Hall, M. L. Lindberg, 

J. Piper, K. J. Brennand, F. H. Gage, M. J. McConnell. 

437F Structural haplotypes and recent evolution of the 

human 17q21.31 locus. R. E. Handsaker, L. M. Boettger, 

M. C. Zody, S. A. McCarroll. 

438W Population genetics of haptoglobin and 

haptoglobin-related protein: 50 years of human copy 

number variation. E. Hollox, A. Menard, F. Yang, B. Fu, M. 

Sironi, R. Hardwick. 

439F Microduplication in 5p15.33 including CLPMT1L 

and TERT genes identified in a patient with cleft lip and 

palate, cardiopathy and urogenital abnormalities. G. 

Izzo, E. L. Freitas, A. C. V. Krepischi, D. R. Bertola, M. R. 

Passos-Bueno, C. Rosenberg. 

440W Integration of microarray and NGS generated 

data for copy number analysis. R. Keshavan, S. Verma, 

S. Shams. 

441F Comparative performance of three algorithms 

in detecting CNV associated with obesity and nonalcoholic 

fatty liver disease. W. Li, J. Littrell, S. Gawrieh, 

M. Olivier. 

442W Increased rate of rare genic copy number 

variants in Parkinson’s disease among Ashkenazi 

Jews. X. Liu, C. Cheng, S. Kisselev, H. Mejia-Santana, E. 

Louis, L. Cote, H. Andrews, C. Waters, B. Ford, S. Frucht, 

S. Fahn, K. Marder, J. Lee, L. Clark. 

443F A map of copy number variation in admixed 

populations in Xinjiang. H. Lou, S. Li, R. Fu, X. Pan, L. 

Jin, S. Xu. 

444W Human CNVs and ultraconserved elements: A 

rapid progression to mutual exclusivity. R. B. McCole, 

C. Y. Fonseka, C.-T. Wu. 

445F Prediction of 3551 human haploinsufficient 

genes. S. Meader, F. Honti, C. Webber. 

446W Prioritization of copy number variation loci 

associated with autism from AutDB: An integrative 

multi-study genetic database. I. Menashe, E. C. Larsen, 

S. Banerjee-Basu. 

447F Copy number variant analysis in a deeply 

phenotyped cohort of individuals with intellectual 

disability. E. Mercier, Y. Qiao, J. Gillis, S. Lewis, E. 

Separovic, P. Pavlidis. 

448W A novel susceptibility gene, UGT2B17, is 

associated with familial ankylosing spondylitis. 

D. O’Rielly, M. Uddin, R. Inman, D. Gladman, W. 

Maksymowych, R. Yazdani, P. Rahman. 

449F Evolution of copy number variation in the rhesus 

macaque b-defensin region. B. Ottolini, T. Schwarzacher, 

C. L. Bevins, J. V. Solnick, G. Doxiadis, E. J. Hollox. 

450W Characterization of copy number variation 

involving the salivary agglutinin gene DMBT1. S. Polley, 

D. Hains, E. Hollox. 

451F Single exon deletion in PCCA gene in patient with 

propionic acidemia highlights challenges to clinical 

whole exome CNV analysis. G. Scharer, G. Creadon- 

Swindell, E. Spector, C. Coughlin, T. Shaikh. 

452W Identifying autism loci using homozygosity 

analysis and copy number variation analysis. K. E. 

Schmitz-Abe, T. W. Yu, T. K. Kim, R. S. Hill, E. M. Morrow, 

M. E. Greenberg, K. Markianos, C. A. Walsh. 

453F Rare exonic deletions contribute to autoimmune 

diabetes susceptibility. C. Shtir, D. Smith, H. Guo, J. 

Barrett, M. Hurles, N. Walker, V. Plagnol, J. Cooper, J. 

Howson, O. Burren, S. Rich, J. Todd. 

454W An atypical microduplication overlapping the 

C2orf27A gene at 2q21.1 co-segregates with Tourette 

syndrome in a three generation family. M. Uddin, 

D. D. O’Reilly, P. Rahman, T. R. Purchase, H. White, S. 

Luscombe, S. J. Moore, T. L. Young, K. A. Hodgkinson. 

455F Detection of copy number variation from exomes 

in the DDD and UK10K projects. P. Vijayarangakannan, 

T. Fitzgerald, C. Joyce, S. McCarthy, M. Hurles, DDD and 

UK10K Projects. 

456W Alterations in RBFOX1: Real finding or red 

herring? L. Walters, A. Bailes, L. Erdman, A. McKinney, 

S. Ramsey, C. Weber, S. Hashimoto, L. Lamb Thrush, J. 

Atkin, G. Herman, S. Hickey, K. Manickam, C. Crowe, S. 

Thomas, C. Astbury, J. Gastier-Foster, S. Reshmi, R. E. 

Pyatt. 

457F Analyses of copy number variation reveal 

putative susceptibility loci in MTX-induced mouse 

neural tube defects. J.-H. Wang, X.-W. Wang, T. Guan, 

Q. Xiang, M.-S. Wang, Z. Zhang, Z. Guan, G.-L. Wang, 

Z.-Q. Zhu, Q. Xe, G.-N. Li, J. Guo, F. Wang, Z.-G. Wang, 

B. Niu, T. Zhang. 

458W Large range of copy number variation for human 

alpha-defensin genes DEFA1 and DEFA3: Lower copy 

number is a risk factor for autoimmune diseases. 

H. Wang, B. Zhou, Y. L. Wu, S. Bowden, R. Hoffman, 

J. Ahearn, D. Birmingham, B. Rovin, L. Hebert, A. 

Schwaderer, D. Hains, C. Y. Yu. 

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

459F Analysis of structural variation in the Genome 

of the Netherlands project. K. Ye, V. Guryev, W. 

Kloosterman, L. Francioli, J. Y. Hehir-Kwa, E. Lameijer, 

A. Abdellaoui, J. de Ligt, V. Koval, N. Amin, F. van Dijk, 

L. C. Karssen, H. Mei, Genome of the Netherlands 

Consortium. 

460W Copy number variation of the Y chromosome 

in autism spectrum disorder. R. K. Yuen, E. Kolomietz, 

M. Vlasschaert, A. Merkoulovitch, J. R. MacDonald, C. R. 

Marshall, S. W. Scherer. 

461F Novel method of CNV analysis in FcgR locus 

and its application to immune-related diseases. A. 

Zhernakova, L. Franke, A. Ioan, G. Trynka, K. Fransen, 

R. Weersma, S. Rantapää-Dahlqvist, P. Gregersen, C. 

Wijmenga, T. Huizinga, R. Toes. 

462W An improved diagnostic workflow using SNP 

arrays reveals novel insights into CNVs in mental 

retardation. X. Zhou, J. M. Wang, B. Wang, J. Wang, T. Ji, 

X. Zhang, X. Ma, Y. Jiang. 

463F Copy number variation in autism spectrum 

disorders. B. Sheppard, C. Ladd-Acosta, B. K. Lee, J. 

Bonner, G. Windham, L. Schieve, L. Croen, A. Reynolds, 

D. Schendel, C. Newschaffer, M. D. Fallin. 

464W Understanding revisions to the human reference 

genome and assembly model. D. Church, P. Flicek, T. 

Graves, T. Hubbard, V. Schneider, The Genome Reference 

Consortium. 

465F Evolutionary history and genome organization 

of DUF1220 protein domains. M. O’Bleness, C. M. 

Dickens, D. Albracht, H. Kotkiewicz, T. Graves, R. Wilson, 

J. Sikela. 

466W Retrotransposition of gene transcripts leads 

to structural variation in mammalian genomes. A. D. 

Ewing, T. Ballinger, D. Earl, D. Haussler. 

467F Whole genome sequencing of iPS cells 

reveals somatic mutation arising at latest stages of 

reprogramming. M. Cortes, J. S. Seo. 

468W Possible genomic impact of SVA retrotransposon 

in humans similar to that in gibbons. T. Hara, Y. Hirai, H. 

Hirai, A. Koga. 

469F Functional studies of tandem repeat variation 

in the human genome using multiplexed capture and 

high-throughput sequencing. A. Guilmatre, G. Highnam, 

D. Mittelman, A. J. Sharp. 

470W Meta-analysis with dbGaP data on genome-wide 

association studies for Alzheimer’s disease. J. H. Kim. 

471F A survey of the mutational load in genes 

associated with rare Mendelian disorders and autism. 

A. R. Rao, S. F. Nelson. 

472W Inferring mechanisms of indel mutation from 

whole genome sequence. I. H. C. Turner, Z. Iqbal, G. 

McVean. 


473F A complex rearrangement of the OCA2 gene in 

two unrelated albino patients. B. Arveiler, E. Lasseaux, 

D. Cailley, M. L. Vuillaume, C. Rooryck, A. Rouault, J. 

Toutain, D. Lacombe, F. Morice-Picard. 

474W A four base pair insertion in WNT16a identified 

through exome sequencing is associated with type 2 

diabetes. L. Been, M. Fortner, E. Howard, M. Lerner, D. 

Brackett, D. Sanghera. 

475F Obstetric complication-associated ANXA5 

promoter polymorphisms affect gene expression 

via DNA secondary structures. H. Inagaki, S. Ota, H. 

Nishizawa, H. Miyamura, K. Nakahira, M. Suzuki, S. 

Nishiyama, Y. Udagawa, I. Yanagihara, H. Kurahashi. 

476W The influence of genomic context on mutation 

patterns inferred from extremely rare variants. V. M. 

Schaibley, M. Zawistowski, D. Wegmann, D. Kessner, 

M. G. Ehm, M. R. Nelson, P. L. St. Jean, G. Abecasis, J. 

Novembre, S. Zöllner, J. Z. Li. 

477F Sequencing the unsequenceable: Expanded CGG 

repeats in the human FMR1 gene. P. Hagerman, J. Eid, P. 

Peluso, D. Rank, J. Yin, L. Hickey, E. Loomis. 

478W Three novel NR5A1 gene mutations in 

patients with 46,XY karyotype and disorders of sex 

development. H. C. Fabbri, J. G. Andrade, A. T. Maciel- 

Guerra, G. Guerra-Junior, M. P. de Mello. 

479F A deletion and a novel nonsense SRY mutation 

in 46,XY Brazilian patients with disorder of sex 

development. C. S. C. Piveta, B. P. B. Araújo, P. D. 

Pereira, F. B. Coeli-Lacchini, A. T. Maciel-Guerra, G. 

Guerra-Junior, I. L. Monlleó, M. P. de Mello. 

480W Whole genome sequencing in autism identifies 

hotspots for germline mutation. J. Michaelson, H. 

Zheng, M. Gujral, Y. Shi, D. Malhotra, X. Jin, D. Greer, 

A. Bhandari, R. Corominas, A. Peoples, A. Koren, S. 

McCarroll, L. Iakoucheva, Y. Li, J. Wang, J. Sebat. 

481F Molecular basis of male infertility: An Indian 

perspective. H. Sharma, R. Prasad, R. Mohan, S. K. Singh. 

482W Phase-defined complete HLA genotyping by 

amplicon sequencing and read-backed phasing. K. 

Hosomichi, T. Hayano, I. Inoue. 

483F Characterization of sequence variants from the first 

direct-to-consumer exome pilot project. A. Shmygelska, 

E. Harrington, C. McLean, A. Chowdry, B. Naughton. 

484W Targeted sequencing applications and project 

design. R. Fulton. 

485F Inverted low-copy repeats and genome 

instability: A genome-wide analysis. T. Gambin, P. 

Dittwald, C. Gonzaga-Jauregui, C. M. B. Carvalho, J. R. 

Lupski, A. Gambin, P. Stankiewicz. 

486W DNA from 1D to 3D: Effect of single nucleotide 

change on DNA conformational structure. P. W. Yim, C. 


POSTER SESSIONS


Liu, C. Woo, Y. Shi, J. Stevens, S. Dong. 

487F Analysis of dinucleotide mutation rates and 

composition of human genome. G. Zhang, D. W. Nebert. 

488W The L141R and G153D variations associated with 

exfoliation glaucoma do not affect enzymatic functions 

of the lysyl oxidase-like protein 1. Y. Kim, S. Kim. 

489F Exploration of HIV susceptibility by exome 

sequencing. S. Liu, W. Scott, D. Dykxhoorn. 

490W Linkage disequilibrium analysis of 

polymorphisms of FRAS1 related extracellular matrix 1 

(FREM1). J. F. Tuff, N. Kaplonski, V. Ly, B. Liang, S. Tyler, F. 

A. Plummer, M. Luo. 

491F Exome sequencing of subjects with familial 

1q21.1 CNV and variable phenotype. C. Harvard, F. Mo, 

F. Tang, Y. Qiao, S. Hamilton, S. Marles, B. McGillivary, C. 

Colins, M. E. S. Lewis, P. Pavlidis, E. Rajcan-Separovic. 

492W Deep resequencing of the NOS2 gene suggests 

multiple potential mechanisms underlying the 

association of several complex diseases with a 

common synonymous SNP. L. Wang, J. Santos, A. 

Dressen, A. Mehta, M. Pericak-Vance, J. Vance, W. Scott. 

493F Characteristics and analysis of exonic SNPs and 

indels discovered by low-pass and exome sequencing. 

J. Schmidt, J. Gollub, J. Barts, C. Davies, B. Wong, R. 

Shigeta, G. Hsiao, M. Nitzberg, E. Shell, J. Peete, S. Hsu, 

A. Kohli, T. Ha, D. Brown, L. Bellon, T. Webster. 

494W Somatic mosaicism in the blood compartment of 

a 115-year-old woman. H. Holstege, D. Sie, W. Pfeiffer, 

T. Nicholas, M. A. Miller, T. Harkins, C. Lee, T. Ross, B. 

Ylstra, H. Meijers-Heijboer, M. Reinders, G. Holstege, E. 

Sistermans, S. Levy. 

495F High-resolution melting analysis of STAT3 involved 

in autosomal dominant hyper IgE syndrome using 

bulge-inducing primers to eliminate polymorphisms 

and snapback primers for genotyping. M. T. Seipp, N. H. 

Augustine, A. Kumanovics, H. R. Hill, C. T. Wittwer. 

496W PON-P: Integrated predictor for pathogenicity of 

missense variants. M. Vihinen, A. Olatubosun, J. Väliaho, 

J. Härkönen, J. Thusberg. 

497F Data submissions to EBI variation archives. 

I. Lappalainen, V. Kumanduri, J. Almeida-King, L. Skipper, 

J. D. Spalding, M. Maguire, P. Flicek. 

498W The power of large numbers: frequencies of rare 

pathogenic mutations in the 23andMe database. E. R. 

Chang, D. A. Hinds, N. Eriksson, J. M. Macpherson, C. B. 

Do, B. T. Naughton. 

499F Finding from CAGI: The Critical Assessment of 

Genome Interpretation, a community experiment to 

evaluate phenotype prediction. S. Brenner, S. Repo, J. 

Moult, CAGI Participants. 

500W Polymorphic regulation of gene expression by 

the histone demethylase KDM4C. B. L. Gregory, V. G. 

Cheung. 

501F Mitochondrial sequence variation in twins. 

Y. Bouhlal, S. Martinez, H. Gong, K. Dumas, J. T. C. Shieh. 

502W Polymorphisms in primer binding site affect 

genotyping accuracy of FCGR2B rs1050501 in 

Caucasians. J. M. Reynolds. 

503F Identification of rare variants contributing to 

pain sensitivity in the normal population: an exome 

sequencing study. B. Zhang, F. M. K. Williams, S. Scollen, 

D. Coa, Y. Memari, C. Hyde, Y. Shi, J. Harris, I. Harrow, A. 

Malarstig, B. Dougherty, R. McEwen, J. C. Stephens, K. 

Patel, C. Menni, D. Hodgkiss, G. Surdulescu, W. He, B. 

Sidders, D. Ziemek, N. Soranzo, X. Jin, S. B. McMahon, S. 

L. John, J. Wang, T. D. Spector. 

504W Discovering retrotransposon insertion 

polymorphisms associated with human phenotypes by 

TIP-chip. T. D. Babatz, D. Avramopoulos, J. D. Boeke, K. 

H. Burns. 

505F Fork stalling and template switching mechanism 

generates a novel rearrangement associated with 

incontinentia pigmenti. M. I. Conte, S. Raimo, M. 

Paciolla, A. Pescatore, E. Esposito, M. G. Miano, F. Fusco, 

M. V. Ursini. 

506W The ENCODE effort combining RNA-seq and 

RT-PCR-seq allows to catalog thousands of novel 

lncRNAs. C. Howald, A. Tanzer, J. Chrast, F. Kokocinski, 

T. Derrien, N. Walters, J. Manuel Gonzalez, A. Frankish, B. 

L. Aken, T. Hourlier, J. Vogel, S. White, S. M. J. Searle, J. 

Harrow, T. Hubbard, R. Guigò, A. Reymond. 

507F Evolution of microRNA-3’UTR interactions and 

their impact on whole transcriptome regulation. A. Z. 

Pietrzykowski, E. Kruse, N. Kinstlinger, L. Tejeda, S. 

Hamza, Y. Wang. 

508W Let-7 coordinately downregulates genes on 

the amino acid sensing pathway to repress mTOR 

and activate neuronal autophagy. A. N. Dubinsky, 

S. Djakovic, R. Zahra, C. Hsu, B. E. Morrison, A. R. La 

Spada. 

509F Deep sequencing of hypoxic breast cancer 

reveals deregulation of non-coding RNAs, non ploy-A 

RNAs and natural anti-sense transcripts. H. Choudhri, 

C. Camps, J. Shoedel, S. Oikonomopoulos, L. Winchester, 

F. Buffa, D. Moralli, E. Volpi, P. Ratcliffe, A. Harris, D. Mole, 

J. Ragoussis. 

510W Integrative annotation and functional 

characterization of human long non-coding RNAs in 

bladder cancer. W. Tang, L. Prokunina-Olsson. 

511F microRNA-xx regulates vascular smooth muscle 

cell phenotypes and prevents neointimal formation. 

Y. Wang, H. Wang, Y. Liao, P. Tsai, K. Chen, H. Cheng, R. 

Lin, S. Juo. 


512W Comparative analysis of strand-specific RNA 

sequencing approaches. D. Munafo, P. Liu, C. Sumner, 

L. Apone, B. Langhorst, E. Yigit, L. Merrill, F. Stewart, E. 

Dimalanta, T. Davis. 

513F microRNAs modulating the expression of FMR1 

mRNA: Implications in the pathophysiology of FXTAS. 

S. Zongaro, R. Hukema, L. Davidovic, S. D’Antoni, M. V. 

Catania, R. Willemsen, B. Mari, B. Bardoni. 

514W Dysfunction of miRNAs biogenesis in association 

with neuronal differentiation in focal cortical dysplasia. 

S. H. Avansini, F. R. Torres, D. B. Dogini, F. Rogério, A. C. 

Coan, R. Secolin, C. S. Rocha, A. F. Costa, A. L. F. Costa, 

A. C. S. Piaza, L. A. M. Reis, E. P. L. Oliveira, H. Tedeschi, 

L. S. Queiroz, F. Cendes, I. Lopes-Cendes. 

515F Genome-wide miRNA signatures of human 

longevity. A. ElSharawy, A. Keller, F. Flachsbart, A. 

Wendschlag, G. Jacobs, N. Kefer, T. Brefort, P. Leidinger, 

C. Backes, E. Meese, S. Schreiber, P. Rosenstiel, A. 

Franke, A. Nebel. 

516W Peripheral blood mononuclear cells microRNAs 

predict treatment outcome of chronic hepatitis C. E. 

Hsi, C. Huang, M. Yu, C. Dai, S. Juo, C. Chou, J. Huang, 

W. Chuang. 

517F Copy number variation of miRNA in individuals 

with intellectual disability. Y. Qiao, C. Harvard, E. 

Mercier, S. Lewis, P. Pavlidis, E. Rajcan-Separovic. 

518W Novel human variation in microRNAs associated 

with disease, biomarkers, and drug metabolism. R. Afi 

Rawlings-Goss, S. Tishkoff. 

519F The tale about MIR147B regulate catalase AEI by 

one SNP in the 5’- UTR. Z. Wang, B. Wang, K. Zhang, L. 

Jin, W. Huang. 

520W Inactivation of the miR-183/96/182 cluster results 

in syndromic retinal degeneration: The miR-183/96/182 

cluster is required for normal function of the retina and 

other sensory organs. S. Xu, S. Lumayag, C. Haldin, C. 

Cowan, B. Kovacs, P. Larsen, D. Valle, P. D. Witmer. 

521F microRNA analysis in human ocular scleral 

tissue. T. Young, X. Luo, F. Hawthorne, S. Feng, P. 

Gonzalez. 

522W Founder mutation in a transposable element 

leads to the identification of a long noncoding RNA in a 

progressive infantile encephalopathy. A. Henrion Caude, 

P. Munier, E. Benko, S. Hanein, E. Westhof, N. Boddaert, 

I. Desguerre, S. Bandiera, M. Girard, D. Rodriguez, A. 

Munnich, M. Fähling, S. Lyonnet, F. Cartault. 

523F Human single nucleotide polymorphisms 

influence non-coding RNA expression. V. Magadi 

Gopalaiah, H.-J. Westra, J. Karjalainen, D. V. Zhernakova, 

B. Hrdlickova, R. Almeida, A. Zhernakova, M. H. Hofker, J. 

Fu, S. Withoff, L. Franke, C. Wijmenga. 

524W Identifying source locations for Alu transcripts 

within human testes. S. Linker, P. Deininger, D. Hedges. 


525F The genetic basis of human drug response 

variation. M. Kaganovich, D. Spacek, M. Snyder. 

526W Dietary protein regulates gene expression of 

amino acid-degrading enzymes through PPARa. A. V. 

Contreras, C. Rangel, V. Ortiz, G. Aleman, B. Palacios, E. 

Tejero, N. Torres, A. R. Tovar. 

527F Patterns of allele-specific gene expression in ten 

human tissues. K. R. Kukurba, T. Nance, R. Piskol, M. H. 

Tan, J. B. Li, S. B. Montgomery. 

528W Gene expression variation in the response of 

human monocyte-derived dendritic cells to LPS and 

influenza dNS1 stimulation. M. N. Lee, C. Ye, A. C. 

Villani, W. Li, P. I. Chipendo, M. H. Lee, P. L. De Jager, C. 

O. Benoist, A. Regev, N. Hacohen. 

529F Gene expression profiling in a large cohort of 

Europeans with Sjögren’s syndrome reveals viral, 

immune, and interferon-related pathways. J. A. Ice, 

H. Li, J. A. Kelly, I. Adrianto, S. B. Glenn, K. S. Hefner, E. 

S. Vista, D. U. Stone, R. Gopalakrishnan, G. D. Houston, 

D. M. Lewis, M. D. Rohrer, P. Hughes, J. B. Harley, C. G. 

Montgomery, J. Chodosh, J. A. Lessard, J.-M. Anaya, 

B. M. Segal, N. L. Rhodus, L. Radfar, M. B. Frank, R. H. 

Scofield, C. J. Lessard, K. Moser Sivils. 

530W A normalization procedure for removal of 

residual multiplex PCR amplification bias from ultradeep 

sequencing of the TCR repertoire. M. J. Rieder, 

C. Carlson, A. Sherwood, R. Emerson, C. Desmaris, M. 

Chung, J. Parsons, M. LaMadrid-Herrmannsfeldt, D. 

Williamson, R. Livingston, H. Robins. 

531F Expression QTL analysis of a gene expression 

signature which predicts advanced non-alcoholic fatty 

liver disease. M. Garrett, C. Moylan, J. Gibson, H. Yang, 

H. Pang, A. Dellinger, A. Suzuki, H. Tillmann, C. Guy, M. 

Abdelmalek, S. Murphy, A. Diehl, M. Hauser, A. Ashley- 

Koch. 

532W Bead-based method for capturing specific 

microRNA in human urine: A non invasive way of 

detecting clinical conditions. M. Rath, T. Xu, C. Trinh, K. 

Tran, J. Stevens, A. Shi, M.-P. Gauthier. 

533F Experimental depletion and regeneration of human 

mitochondrial DNA to investigate its role in nuclear 

gene regulation. S. Kumar, C. Bellis, M. P. Johnson, H. H. 

H. Goring, T. D. Dyer, J. Blangero, J. E. Curran. 

534W Primary mitochondrial diseases dysregulate the 

transcriptional and post-transcriptional regulatory 

systems in a tissue-specific pattern. Z. Zhang, M. 

Tsukikawa, E. Polyak, J. Ostrovsky, C. Clarke, E. Place, E. 

Rappaport, G. Reiner, M. Yudkoff, R. Naviaux, R. Haas, J. 

Baur, M. Falk. 

535F Genetic variation in expression response to 

endoplasmic reticulum stress in human B cells. W. 

Bernal, M. Morley, V. Cheung. 

536W Dynamic network connectivity mapping of 

T-cell activation in Caucasians and African Americans 


POSTER SESSIONS


identifies a common set of asthma-associated hub 

genes. J. Chu, W. Qiu, V. Carey, K. Barnes, C. Ober, F. 

Martinez, R. Lemanske, A. Liu, S. London, S. Weiss, B. Raby. 

537F Immunity genes and pathways are associated 

with human microbiome composition at host body 

sites. R. Blekhman, J. Goodrich, K. Huang, R. Bukowski, 

Q. Sun, R. E. Ley, D. Gevers, A. G. Clark. 

538W Ribosome footprints on Williams syndrome 

region genes in the mouse brain. R. Weiss, M. Howard, 

L. Dai, J. Korenberg. 

539F Regulatory mutations in the 5’UTR of NMNAT1, 

encoding the nuclear isoform of nicotinamide 

nucleotide adenylyltransferase 1, cause Leber 

congenital amaurosis. F. Coppieters, A. Baert, C. Van 

Cauwenbergh, M. Bauwens, S. De Jaegere, T. de Ravel, 

F. Meire, N. Abdelmoula Bouayed, L. Florentin-Arar, B. P. 

Leroy, E. De Baere. 

540W Disruption of a cis-acting microRNA site in 

FMR1 results in reduced translation of an FMRP 

reporter. J. Suhl, R. Muddashetty, G. Bassell, S. 

Warren. 

541F Is the biosynthesis of the major phospholipid 

class phosphatidylcoline in mammalian cells regulated 

by microRNA? K. Hokynar, S. Hänninen, M. Hermansson, 

P. Somerharju. 

542W Poly(A) binding protein nuclear 1 levels affect 

alternative polyadenylation. E. de Klerk, A. Venema, S. 

Y. Anvar, J. J. Goeman, O. Hu, J. T. den Dunnen, S. M. van 

der Maarel, V. Raz, P. A. C. ‘t Hoen. 

543F Identification of human RNA editing sites 

using publically available RNA-sequencing data. 

G. Ramaswami, J. B. Li. 

544W Human ADAR proteins regulate RNA editing and 

gene expression as revealed in systems study. I. Wang, 

J. Toung, A. Richards, E. So, Y. Zhao, W. Ankener, J. 

Devlin, Y. Liu, V. Cheung. 

545F Integrating functional and computational 

genomics to develop neuronal regulatory vocabularies. 

X. Reed, L. Taher, G. M. Burzynski, C. Fletez-Brant, 

D. Lee, D. S. Gary, M. A. Beer, I. Ovcharenko, A. S. 

McCallion. 

546W Transcriptome genomic analysis using RNA-seq 

in three tissues of a twin cohort. A. Buil, A. Brown, M. 

Davies, A. Viñuela, M. Gallardo, D. Glass, M. Blasco, R. 

Durbin, T. D. Spector, E. T. Dermitzakis for EUROBATS 

Consortium. 

547F The genetics of gene expression, splicing and 

transcriptional efficiency through poly-A selection 

and ribosomal depletion RNA sequencing in humans. 

M. Pala, M. Marongiu, A. Mulas, R. Cusano, F. Crobu, F. 

Reinier, R. Berutti, M. G. Piras, C. Joens, D. Schlessinger, 

G. Abecasis, A. Angius, S. Sanna, F. Cucca, S. B. 

Montgomery. 

548W Quantification of chitinase transcripts in human 

tissues. M. Ohno, K. Tsuda, M. Sakaguti, Y. Sugahara, F. 

Oyama. 

549F Two functional variants in the promoter region of 

UBE2L3 confer risk for systemic lupus erythematosus. 

S. Wang, G. B. Wiley, F. Wen, J. Warner, J. Robertson, J. 

M. Guthridge, M. Dozmorov, J. D. Wren, J. A. James, P. 

M. Gaffney. 

550W A 660 kb deletion centromeric to the lamin B1 

gene (LMNB1) mimics LMNB1 duplication and causes 

adult-onset autosomal dominant leukodystrophy. 

E. Giorgio, D. Robyr, E. Di Gregorio, D. Lacerenza, G. 

Vaula, A. Brusco, S. E. Antonarakis, A. Brussino. 

551F Variation in transcription factor binding among 

humans. F. Grubert, M. Kasowski, C. Heffelfinger, M. 

Hariharan, A. Asabere, S. Waszak, L. Habegger, J. 

Rozowsky, M. Shi, A. Urban, M. Hong, K. Karczewski, W. 

Huber, S. Weissman, M. Gerstein, J. Korbel, M. Snyder. 

552W Widespread R-loop formation in the human 

genome: Implications for epigenetic control and 

beyond. Y. Lim, P. Ginno, P. Lott, I. Korf, F. Chedin. 

553F Genome-wide transcriptome profiling reveals the 

functional impact of rare de novo and recurrent CNVs 

in autism spectrum disorders. R. Luo, S. Sanders, Y. 

Tian, I. Voineagu, N. Huang, S. Chu, L. Klei, C. Cai, J. Ou, 

J. Lowe, M. Hurles, B. Devlin, M. State, D. Geschwind, 

ACE Network Consortium. 

554W Transcriptional alterations underlying variable 

phenotypic expressivity associated with 16p11.2 

microdeletion/microduplication syndrome within 

multiplex autism families. I. Blumenthal, J. Z. Levin, Y. 

Shen, C. Ernst, C. C. Morton, J. F. Gusella, M. E. Talkowski. 

555F Differential reduced expression of IRS-1 in 

visceral and subcutaneous adipose depots in morbidly 

obese and type2 diabetic subjects and their correlation 

with metabolic profiles with 2 novel mutations 

sequenced in Asian Indians. M. Sharma, K. Luthra, S. 

Aggarwal, N. Vikram, A. Misra. 

556W Quantitative analysis of the human beta cell 

transcriptome. A. C. Nica, H. Ongen, J. Irminger, S. 

Dupuis, A. Planchon, L. Romano, S. E. Antonarakis, P. A. 

Halban, E. T. Dermitzakis. 

557F Novel sequence motif regulates pluripotency. Y. 

Song, S. Bao, G. Niu, Y. Zhao, H. Zhu. 

558W Quantitative expression analysis of mouse 

chitinases: Acidic mammalian chitinase is the major 

transcript in stomach. F. Oyama, M. Ohno, K. Tsuda, M. 

Sakaguchi, Y. Sugahara. 

559F The Japanese firefly, Luciola cruciata, gene: 

Small intron and their insufficiency of splicing in CHO 

cells. M. Ishii, R. Kojima, S. Fukuda, M. Sakaguchi, Y. 

Sugahara, M. Kamaya, F. Oyama. 

560W Expression QTL interactions in a cohort of 869 


individuals reveals sex specific, cis-cis, trans-cis and 

trans-trans interactions. J. Bryois, A. Buil, D. M. Evans, 

D. F. Conrad, S. M. Ring, M. Hurles, P. Deloukas, G. D. 

Smith, E. T. Dermitzakis. 

561F Tissue-specific effects of genetic variation and 

DNA methylation on gene regulation. E. T. Dermitzakis, 

M. Gutierrez-Arcelus, S. B. Montgomery, T. Lappalainen, 

H. Ongen, A. Yurovsky, J. Byrois, A. Buil, T. Giger, L. 

Romano, A. Planchon, E. Falconnet, I. Padioleau, C. 

Borrel, A. Letourneau, P. Makrythanasis, M. Guipponi, C. 

Gehrig, S. E. Antonarakis. 

562W Multi-scale integration systematically connects 

disease-associated variants to molecular pathology. 

K. J. Karczewski, J. T. Dudley, R. Chen, A. J. Butte, M. 

Snyder. 

563F Analysis of primary natural killer cells reveals 

multiple novel cell-specific eQTL. S. Makino, B. P. 

Fairfax, E. Ng, J. C. Knight. 

564W The impact of polymorphisms within probe 

sequences on expression QTL studies. A. Ramasamy, 

D. Trabzuni, R. J. Gibbs, A. Dillman, D. G. Hernandez, 

S. Arepalli, R. Walker, C. Smith, A. A. Shabalin, Y. Li, A. 

B. Singleton, M. R. Cookson, J. Hardy, M. Ryten, M. E. 

Weale, North American Brain Expression Consortium and 

UK Brain Expression Consortium. 

565F PGC-1a regulates TFEB to promote autophagy 

lysosome-mediated turnover of aggregate-prone 

neurodegenerative disease proteins. T. Tsunemi, B. E. 

Morrison, T. D. Ashe, A. R. La Spada. 

566W The SLE associated TT.A polymorphism 

downstream of TNFAIP3 demonstrates lower affinity 

for NF- B and SATB1 and reduced enhancer activity. 

F. Wen, A. K. Templeton, S. Wang, J. M. Guthridge, M. B. 

Humphrey, P. M. Gaffney. 

567F Transcriptome and genome sequencing 

uncovers functional variation in human populations. 

T. Lappalainen, M. Sammeth, N. Kurbatova, J. Monlong, 

M. Friedländer, M. A. Rivas, T. Wieland, O. Karlberg, 

M. Barann, P. A. C. ‘t Hoen, T. Griebel, M. Sultan, D. 

MacArthur, E. Lizano, T. Strom, S. Schreiber, H. Lerach, S. 

E. Antonarakis, G. J. van Ommen, R. Sudbrak, R. Häsler, 

A. Brazma, A.-C. Syvänen, P. Rosenstiel, T. Meitinger, 

R. Guigo, I. Gut, X. Estivill, E. T. Dermitzakis, Geuvadis 

Consortium. 

568W Impact of private variants on human 

transcriptome architecture. X. Li, K. Karczewski, K. 

Smith, K. Kukurba, S. Montgomery. 

569F Predicting disease-relevant cis-regulatory 

SNPs via tissue-specificity of allelic expression and 

chromatin state. N. Light, V. Adoue, P. Lundmark, B. Ge, 

T. Kwan, A.-C. Syvänen, T. Pastinen. 

570W Characterization of the basic regulatory 

elements involved in the regulation of OTC gene 

expression in human. O. Luksan, L. Dvorakova, 

M. Jirsa. 


571F Regulatory impact of alternative polyadenylation 

in human B-lymphoblastoid cells. O. K. Yoon, T. Y. Hsu, 

J. H. Im, R. B. Brem. 

572W Identification of a novel CFTR mRNA isoform 

in nasal epithelial cells. A. Hinzpeter, A. de Becdelièvre, 

E. Bieth, F. Brémont, C. Costa, C. Gameiro, A. Aissat, M. 

Goossens, P. Fanen, E. Girodon. 

573F Cytokine induced genetic-epigenetic interactions 

at autoimmune thyroiditis susceptibility gene variants. 

M. Stefan, W. Zang, M. Keddache, Y. Tomer. 

574W DMD transcript imbalance regulates dystrophin 

levels. P. Spitali, J. C. van den Bergen, B. Wokke, A. A. M. 

Janson, R. van den Eijnde, J. J. G. M. Verschuuren, J. T. 

den Dunnen, P. A. C. ‘t Hoen, A. Aartsma-Rus. 

575F Protein inhibitor of activated STAT3 modulates 

the activity of anterior segment dysgenesis 

transcription factors in trabecular meshwork cells. 

T. Footz, L. Huang, M. Walter. 

576W Statin-induced alternative splicing in HepG2 

cells. C. Stormo, M. K. Kringen, O. K. Olstad, J. P. Berg, 

A. P. Piehler. 

577F Functional RNA editing sites identified by 

comparative transcriptome analysis. R. Zhang, G. 

Ramaswami, L. P. Keegan, T. Deng, M. A. O’Connell, J. 

B. Li. 

578W Meta-analysis of transcriptome data using 

pathway-based approach reveals biologically relevant 

asthma genes. T. Mersha, S. Amirisetty, G. Hershey. 

579F Whole transcriptome analysis of velocardiofacial 

syndrome using next-generation sequencing. Y. Zhang, 

J. Jin, X. Zhu, M. Haney, Y. Kluger, S. Weissman, A. Urban. 

580W Genome-wide search for novel human uORFs 

and N-terminal protein extensions using ribosomal 

footprinting. J. Hampe, C. Fritsch, A. Herrmann, M. 

Nothnagel, K. Szafranski, K. Huse, S. Schreiber, M. Platzer, 

M. Krawczak, M. Brosch. 

581F Variation in protein levels and its genetic 

determination in human lymphoblastoid cell lines. L. 

Wu, S. I. Candille, Y. Choi, H. Tang, M. Snyder. 

582W The impact of loss of function variants on the 

transcriptome. M. A. Rivas, T. Lappalainen, M. Sammeth, 

D. G. MacArthur, N. Kurbatova, T. Wieland, M. Lek, T. 

Griebel, M. Barann, M. Sultan, J. Carlsson, P. Hoen, T. 

Strom, S. Schreiber, H. Lehrach, S. E. Antonarakis, G. van 

Ommen, R. Sudbrak, R. Hasler, A. Brazma, A.-C. Syvänen, 

P. Rosenstiel, T. Meitinger, R. Guigo, I. Gut, X. Estivill, M. I. 

McCarthy, E. T. Dermitzakis, Geuvadis Consortium. 

583F Mapping cis and trans regulatory effects across 

multiple tissues in twins: The MuTHER Study. K. Small, 

E. Grundberg, A. Hedman, A. Nica, A. Buil, S. Keildson, 

J. Bell, T. Yang, A. Barrett, J. Nisbet, D. Meduri, S.-Y. 

Shin, D. Glass, J. Min, L. Parts, L. Tsaprouni, F. Nestle, 

S. O’Rahilly, N. Soranzo, C. M. Lindgren, K. Zondervan, 


POSTER SESSIONS


K. Ahmadi, E. Schadt, K. Stefansson, G. Davey Smith, 

M. McCarthy, P. Deloukas, E. Dermitzakis, T. Spector, 

MuTHER Consortium. 

584W Identifying age- and sex-associated gene 

expression profiles in .7,000 whole-blood samples. 

M. J. Peters, R. Joehanes, T. Esko, K. Heim, H. Völzke, 

L. Pilling, J. Brody, Y. F. Ramos, B. E. Stranger, M. W. 

Christiansen, S. Gharib, R. Hanson, A. Hofman, J. 

Kettunen, D. Levy, P. Munson, C. O’Donnell, B. Psaty, F. 

Rivadeneira, A. Suchy-Dicey, A. G. Uitterlinden, H. Westra, 

I. Meulenbelt, D. Enquobahrie, T. Frayling, A. Teumer, H. 

Prokisch, A. Metspalu, J. B. J. Van Meurs, A. D. Johnson 

on behalf of CHARGE Gene Expression Working Group. 

585F Simplified sample preparation and streamlined 

library preparation method for deep sequencing 

ribosome protected mRNA fragments. R. Vaidyanathan, 

S. Kuersten, A. Radek, S. Swami, D. Vo, L. Penalva. 

586W Genetics and epigenetic regulation of eukaryotic 

transcriptome. Y. Wakabayashi, T. Ni, D. Corcoran, W. 

Yang, U. Ohler, W. Peng, C. O’Donnell, J. Zhu. 

587F Differential protein expression in human-induced 

pluripotent and embryonic stem cells. S. Brown-Ford, 

M. Pellitteri-Hahn, A. De La Forest, B. Halligan, S. Duncan, 

M. Olivier. 

588W Understanding the molecular mechanisms 

underlying autism spectrum disorders using iPSCderived 

neurons. B. A. DeRosa, J. M. Van Baaren, G. 

K. Dubey, J. M. Lee, M. L. Cuccaro, J. M. Vance, M. A. 

Pericak-Vance, D. M. Dykxhoorn. 

589F Whole exome sequencing in familial non-HHT 

brain arteriovenous malformations. N. Bendjilali, 

L. Tang, D. E. Guo, R. Hernandez, M. Segal, C. E. 

McCulloch, S. Inoue, A. Koizumi, W. L. Young, L. 

Pawlikowska, H. Kim. 

590W The investigation of angiotensin converting 

enzyme I/D and plasminogen activator inhibitor-1 

4G/5G polymorphisms in venous thromboembolism 

patients in Turkish patients. H. Salifoglu, H. Kaya, M. 

Karkucak, D. Torun, Y. Tunca. 

591F Organization of alphoid sequence clusters on 

human chromosome 21. W. Ziccardi, C. Putonti, J. 

Doering. 

592W A high-resolution genome-wide map of meiotic 

double-strand breaks in humans. F. Pratto, K. Brick, P. 

Khil, F. Smagulova, G. Petukhova, R. D. Camerini-Otero. 

593F Genome-wide scan of disease-inversion 

association. J. Ma, C. I. Amos. 

594W HOXA11 and MMP2 gene expressions in women 

with pelvic organ prolapsus. N. Yilmaz, G. Ozaksit, Y. K. 

Terzi, S. Yilmaz, B. Budak, O. Aksakal, F. I. Sahin. 

595F Large scale whole genome and whole exome 

sequencing of rhesus monkeys (Macaca mulatta) in 

five primate research centers. M. Raveendran, D. Rio 

Deiros, G. L. Fawcett, Z. Johnson, N. H. Kalin, R. W. 

Wiseman, B. Ferguson, E. Vallender, S. Kanthaswamy, D. 

M. Muzny, R. Gibbs, J. Rogers. 

596W Whole genome haplotyping by dilution, 

amplification and sequencing. F. Kaper, S. Swamy, B. 

Klotzle, J. Cottrell, S. Munchel, M. Bibikova, S. Kruglyak, 

M. Ronaghi, M. A. Eberle, J. B. Fan. 

597F Mechanism and potential diversity of T-cell 

receptor rearrangement from sequence repertoires. 

A. Murugan, T. Mora, A. Walczak, C. Callan. 

598W Expression of mouse acidic mammalian 

chitinase in Escherichia coli and characterization of its 

properties. A. Kashimura, Y. Kida, M. Ohno, K. Ishikawa, 

M. Sakaguchi, F. Oyama. 

599F Functional analysis of mouse chitinase-like 

protein Ym1. Y. Kida, M. Sakaguchi, Y. Sugahara, F. 

Oyama. 

600F Targeted deep sequencing by mobile element 

scanning (ME-Scan) reveals Alu insertions throughout 

the genome and around the world. D. J. Witherspoon, 

W. S. Watkins, Y. Zhang, J. Xing, M. A. Batzer, L. B. Jorde. 

Pharmacogenetics 

601T Identification of HNRNPA1 as a novel regulator 

of cholesterol metabolism. C. Yu, E. Theusch, D. A. 

Nickerson, K. Lo, M. Kutilova, R. M. Krauss, M. W. Medina. 

602T Novel association of dual anti-platelet drug 

response with a functional variant in PPARG. A. S. 

Fisch, J. Liu, J. P. Lewis, L. M. Yerges-Armstrong, J. R. 

O’Connell, B. D. Mitchell, R. B. Horenstein, N. Ambulos, K. 

Ryan, Q. Gibson, J. Shelton, A. R. Shuldiner. 

603T Genetic variations associated with gemcitabine 

treatment outcome in pancreatic cancer. L. Li, B. 

Fridley, G. Jenkins, E. Carlson, K. Kalari, G. Petersen, R. 

McWilliams, L. Wang. 

604T Large scale phenotyping using the 1000 Genomes 

Project lymphoblastoid cell line panel. D. Spacek, M. 

Kaganovich, M. Snyder. 

605T The association of SLC6A4 with antidepressantinduced 

mania: The long and the short of it. J. M. 

Biernacka, D. L. Walker, J. Geske, S. Winham, S. Crow, M. 

Chauhan, S. McElroy, M. Frye. 

606T Interactions between polymorphisms in 

eicosanoid metabolism genes and vasodilator 

responses in humans. L. N. Gordon, C. R. Lee, M. 

Pretorius, R. N. Schuck, L. H. Burch, D. C. Zeldin, S. M. 

Williams, N. J. Brown. 

607T Pharmacogenetics of schizophrenia: Predicting 

early response to antipsychotic therapy. M. Gupta, S. 

Jain, R. Kukreti. 


608T Identification of novel polymorphisms associated 

with efficiency of metformin treatment in type 2 

diabetes patients. J. Klovins, L. Tarasova, L. Zarina, V. 

Pirags, OPTIMED Consortium. 

609T Cholesteryl ester transfer protein polymorphisms, 

statin use, and their impact on cholesterol levels and 

cardiovascular events. M. Leusink, N. C. Onland-Moret, 

F. W. Asselbergs, B. Ding, S. Kotti, N. R. van Zuydam, 

A. C. Papp, N. Danchin, L. Donnelly, A. D. Morris, D. I. 

Chasman, P. A. F. M. Doevendans, O. H. Klungel, P. M. 

Ridker, W. H. van Gilst, T. Simon, F. Nyberg, C. N. A. 

Palmer, W. Sadee, P. van der Harst, C. Verstuyft, P. I. W. de 

Bakker, A. de Boer, A.-H. Maitland-van der Zee. 

610T Association study of inflammation-related 

genes and depressive disorders and antidepressant 

response. M.-W. Lin, Y.-T. Chang, I.-H. Lin, Y.-M. Bai. 

611T Are CYP2C9 and VKORC1 polymorphisms 

associated with increased bleeding or thrombosis risk 

among Blacks receiving warfarin anticoagulation? F. 

Mili, T. A. Deans, W. C. Hooper, P. Weinstein, C. Lally, H. 

Austin, N. Wenger. 

612T Twelve candidate genes and antidepressant 

response in obsessive-compulsive disorder. G. Zai, E. 

Brandl, J. Deluce, J. L. Kennedy, M. A. Richter. 

613T A genome-wide integrative study of microRNAs 

in human liver. W. Liu, F. Innocenti, E. Gamazon, S. 

Mirkov, J. Ramirez, S. Huang, N. Cox, M. Ratain. 

614T Protein quantitative trait loci identify novel 

proteins predictive for chemotherapeutic induced 

phenotypes. A. L. Stark, R. J. Hause, Jr., L. K. Gorsic, 

N. N. Antao, S. S. Wong, D. F. Gill, S. H. Chung, S. M. 

Delaney, C. D. Brown, K. P. White, R. B. Jones, M. E. 

Dolan. 

615T Functional genetic variation in RHOA is 

associated with the cholesterol-lowering effects of 

statin treatment. E. Theusch, D. Naidoo, F. Bauzon, K. 

Stevens, L. Mangravite, Y. L. Kuang, R. M. Krauss, M. W. 

Medina. 

616T The modulation of CYP3A4 expression by the 

efflux pump ABCB1 in HepG2 cells. W. Shou, B. Wang, 

Z. Wang, J. Shi, W. Huang. 

617T Genetic determinants of dabigatran plasma levels 

and their relation to bleeding. G. Pare, N. Eriksson, 

T. Lehr, S. Connolly, J. Eikelboom, M. D. Ezekowitz, T. 

Axelsson, S. Haertter, J. Oldgren, P. Reilly, A. Siegbahn, 

A.-C. Syvänen, C. Wadelius, M. Wadelius, H. Zimdahl- 

Gelling, S. Yusuf, L. Wallentin. 

618T Genome-wide study of resistant hypertension 

using existing genomic data and electronic medical 

records. L. Dumitrescu, M. D. Ritchie, J. C. Denny, S. J. 

Bielinski, P. Peissig, J. A. Pacheco, M. G. Hayes, G. P. 

Jarvik, R. Li, I. J. Kullo, C. G. Chute, R. L. Chisholm, E. B. 

Larson, C. A. McCarty, D. M. Roden, M. de Andrade, D. C. 

Crawford on behalf of eMERGE Network. 


619T Genetic and clinical determinants of warfarin 

dose: A RE-LY genomics substudy. N. Eriksson, L. 

Wallentin, L. Berglund, T. Axelsson, S. Connolly, M. 

Ezekowitz, J. Oldgren, P. Guillaume, P. Reilly, A. Siegbahn, 

A.-C. Syvänen, C. Wadelius, S. Yusuf, M. Wadelius. 

620T The Kaiser Permanente/UCSF Genetic 


Aging: A genome-wide association study of quetiapineinduced 

weight gain derived from electronic medical 

records and outpatient pharmacy data. N. Gonzaludo, 

S. Sciortino, L. Walter, N. Risch, P. Y. Kwok, C. Schaefer. 

621T Genome-wide association analysis of pain 

reduction in rheumatoid arthritis patients treated with 

anti-TNF medication. M. Umicevic Mirkov, H. Scheffer, S. 

Krintel, S. H. Vermeulen, J. Johansen, W. Kievit, M. A. F. 

van de Laar, P. C. L. van Riel, B. Franke, M. Hetland, M. J. 

H. Coenen. 

622T A genome-wide association analysis of 

corticosteroid response in asthmatics. Q. Duan, B. E. 

Himes, B. Schuemann, K. G. Tantisira, S. T. Weiss. 

623T microRNA-based approach expands on genomewide 

association study and identifies SNPs important 

for response to glucocorticoids in asthma patients. 

H. Im, E. R. Gamazon, D. Lenkala, K. Wu, G. Clemmer, S. 

T. Weiss, N. J. Cox, K. Tantisira, R. S. Huang. 

624T SLC9A9 variant as a novel biomarker of response 

to interferon beta: Results from a pharmacogenetic 

study on Italian, U.S. and French multiple sclerosis 

patients. F. Martinelli Boneschi, F. Esposito, E. Lim, P. 

Brambilla, M. Sorosina, M. Romeo, M. Rodegher, N. 

Bohossian, N. A. Patsopoulos, B. Kenan, V. Martinelli, D. 

Brassat, G. Comi, P. De Jager. 

625T Polygenic heritability estimates of asthma and 

treatment-related phenotypes. M. J. McGeachie, E. A. 

Stahl, B. E. Himes, S. A. Pendergrass, M. D. Ritchie, R. M. 

Plenge, K. G. Tantisira. 

626T Web-based phenotyping yields replication of 

genetic associations with sensitivity to warfarin. J. L. 

Mountain, A. K. Kiefer, M. Mullins, T. K. Acquaye, C. 

B. Marsh, J. A. Johnson, H. L. McLeod, J. Y. Tung, N. 

Eriksson, K. E. Barnholt. 

627T Follow-up study of genetic risk factors for 

carbamazepine-induced cutaneous adverse drug 

reactions in Japanese population. T. Ozeki, T. Mushiroda, 

A. Takahashi, M. Kubo, Y. Shirakata, Z. Ikezawa, M. Iijima, 

T. Shiohara, K. Hashimoto, Y. Nakamura. 

628T Re-examination of the CATIE pharmacogenetics 

whole-genome dataset using a run of significiant 

findings approach, focus on tardive dyskinesia. C. Zai, 

V. Gonçalves, A. Tiwari, G. Oh, V. de Luca, D. Mueller, J. 

Knight, J. Kennedy. 

629T A Bayesian approach to genome-wide genetic 

association studies with survival time as outcome. 

L. Chien, I. Chang, C. Hsiung. 


POSTER SESSIONS


630T IL28B genotypes associated with IFN-induced 

virologic response in clinical studies evaluating 

eltrombopag treatment in HCV-infected patients with low 

platelet counts. M. Chiano, L. Condreay, L. Briley, D. Pulford, 

D. Fraser, K. Johansson, D. Briley, E. Harris, S. Bhatti, D. 

Theodore, F. Campbell, S. Vasey, M. Arning, C. Spraggs. 

631T Mapping the incidentalome: Quantifying 

incidental findings generated through a clinical 

pharmacogenomics project. K. B. Brothers, M. J. 

Westbrook, M. F. Wright, S. L. Van Driest, T. L. McGregor, 

J. C. Denny, R. L. Zuvich, E. W. Clayton. 

632T The Coriell Personalized Medicine Collaborative 

pharmacogenomics appraisal and evidence scoring 

sytem. N. Gharani, M. A. Keller, C. A. Stack, T. J. 

Schmidlen, R. S. Kasper, J. P. Jarvis, N. P. Gerry, E. S. 

Gordon, M. F. Christman. 

633T PharmGKB: From pharmacogenomics knowledge 

to clinical interpretation and implementation. L. Gong, 

M. Whirl-Carrillo, J. M. Hebert, E. M. McDonagh, K. 

Sangkuhl, C. F. Thorn, D. Klein, R. B. Altman, T. E. Klein. 

634T Development of a scoring tool to prioritize clinical 

pharmacogenomic testing. S. F. Manzi. 

635T Pharmacogenomic research undertaken by 

PharmGKB consortia groups. E. M. McDonagh, M. Whirl 

Carrillo, L. Gong, J. M. Hebert, K. Sangkuhl, C. F. Thorn, 

D. Klein, R. B. Altman, T. E. Klein. 

636T Effects of CYP2C9 and VKORC1 polymorphisms 

on clinical outcomes and warfarin response: Focusing 

on personalized medicine. P. C. J. L. Santos, R. A. G. 

Soares, C. M. C. Strunz, J. E. Krieger, A. C. Pereira. 

637T Performance of a biomarker risk algorithm for a 

primary prevention trial of Alzheimer’s disease. M. W. 

Lutz, D. K. Burns, D. G. Crenshaw, A. M. Saunders, A. D. 

Roses. 

638T A study of asthma pharmacogenomics using RNAseq. 

B. E. Himes, R. Hu, P. Wagner, D. Chan, B. Klanderman, 

R. A. Panettieri Jr., K. Tantisira, S. T. Weiss, Q. Lu. 

639T Genetic moderators of treatment response 

to methylphenidate and guanfacine in children and 

adolescents with ADHD. E. L. Nurmi, K. S. Mallya, F. 

Whelan, C. P. Laughlin, J. J. McGough, S. K. Loo, R. M. 

Bilder, J. T. McCracken. 

640T Identifying genes that influence acute ethanol 

responsive behaviors in Caenorhabditis elegans. J. T. 

Alaimo, A. G. Davies, J. C. Bettinger. 

641T Characterization of Northeast Asian ADME gene 

variation via exome sequencing. D. H. Hovelson, Z. Xue, 

S. Rashkin, X. Zhan, M. G. Ehm, A. Yeo, I. J. Jang, I. Ieiri, 

J. E. Lee, L. R. Cardon, S. L. Chissoe, G. Abecasis, M. R. 

Nelson. 

642T Drug metabolizing enzyme genes and nicotine 

and cotinine metabolism. A. W. Bergen, H. S. Javitz, M. 

Michel, R. Krasnow, D. Nishita, C. N. Lessov-Schlaggar, H. 

Hops, N. J. Markward, S. Hall, T. Baker, D. V. Conti, R. F. 

Tyndale, N. L. Benowitz, G. E. Swan. 

643T Identification of a SNP in the UGT1A1 promoter 

associated with increased serum bilirubin levels. M. K. 

Kringen, A. P. Piehler, R. M. Grimholt, M. S. Opdal, K. B. F. 

Haug, P. Urdal. 

644T Well-characterized cohorts and exome data: 

Investigating antipsychotic pharmacogenomics in 

the South African context. B. Drogemoller, D. Niehaus, 

G. Wright, B. Chiliza, L. Asmal, L. Koen, R. Emsley, L. 

Warnich. 

645T Can genetic variation of CES1A predict 

methylphenidate response in ADHD patients? 

A. Cassidy, E. Sizer, D. Rutschow, K. Hogg, J. Berg, D. 

Coghill. 

646T Whole exome analysis of African American 

warfarin pharmacogenomics. R. Daneshjou, K. Aquino- 

Michaels, B. Burkley, L. H. Cavallari, J. A. Johnson, N. A. 

Johnson, T. E. Klein, K. J. Karczewski, T. Langaee, S. R. 

Patel, M. Perera, H. Sagreiya, H. Tang, N. Tatonetti, R. B. 

Altman. 

647T Survey of rare variants in pharmacogenes for 

patients with statin-induced myopathy identified in 

a biorepository linked to electronic medical records. 

M. T. Oetjens, Q. Feng, A. R. Ramirez, E. Bowton, T. Clark, 

D. M. Roden, D. C. Crawford, R. A. Wilke. 

648T Genetic determinants of fetal hemoglobin 

response to hydroxyurea. V. A. Sheehan, A. Sabo, J. 

R. Crosby, T. A. Howard, D. M. Muzny, B. Davis, A. Li, U. 

Nagaswamy, E. Boerwinkle, R. A. Gibbs, R. E. Ware, J. M. 

Flannagan. 

649T Translating genetic associations to new 

medicines. M. G. Ehm, S. L. Chissoe, M. R. Nelson, D. 

M. Waterworth, L. C. McCarthy, H. Tipney, T. Pastinen, M. 

Saleh, P. Gros, P. Agarwal, M. Lathrop, L. R. Cardon, J. B. 

Richards, P. Sanseau. 

650T Association of CYP3A4 and CYP3A5 genotypes 

with treatment-related hyperlipidemy. L. E. Wong- 

Ley, L. E. Figuera, R. Ortiz-Orozco, M. Perez-Nuño, 

P. Aguiar-Garcia, F. A. Ortega-Gutierrez, A. Nuñez- 

Zenteno.ñ 

651T Pharmacogenetic investigation of diarrhea 

in pazopanib-treated patients with renal cell 

carcinoma. Z. Xue, L. Huang, C. N. Sternberg, R. A. 

Figlin, L. McCann, C. F. Spraggs, C. Carpenter, L. N. 

Pandite, C. Xu. 

652T Multi-ethnic glutathione S-transferase copy 

number profiling. S. Martis, R. Vijzelaar, J. Sload, H. Mei, 

L. Edelmann, R. J. Desnick, S. A. Scott. 

653T Pharmacogenomics of cardiovascular disease 

treatment in subjects from the Lithuanian population. 

A. Pranculis, I. Pepalyte˙ , J. Arasimavičius, Z. A. 

Kučinskiene˙ , V. Kučinskas. 


654T Systematic functional characterization of 

cytochrome P450 2E1 promoter variants in the Chinese 

Han population. S. Qin, L. He. 

655T Influence of common polymorphisms in 

ABCB1 gene on interaction between methadone and 

p-glycoprotein. Y. Teng, C. Hung, M. Chiou. 

Metabolic Disorders 

656T Genetic regulation of circulating glycine 

concentration in the Finnish population. J. Kettunen, T. 

Tukiainen, M. Ala-Korpela, J. Eriksson, O. Raitakari, M. R. 

Järvelin, T. Lehtimäki, V. Salomaa, M. Perola, A. Palotie, 

S. Ripatti. 

657F Functional and physical interaction of the 

mitochondrial electron transport chain and fatty acid 

oxidation and its disruption in fatty acid oxidation 

deficient animals. J. Vockley, Y. Wang, E. Goetzman, J. 

Palmfeldt, N. Gregersen. 

658T Dysregulation of central nervous system 

sphingolipid metabolism as a unifying mechanism for 

neuro-cognitive manifestations of Gaucher disease 

and HIV infection. A. F. Elias, N. J. Haughey, K. Mackey, 

T. Pitman, A. W. Thomas, S. Wakefield, S. P. Yang. 

659F Autism spectrum disorders functioning levels 

and metabolic alterations. N. Arciniegas, N. Linares, M. 

Cabrera-Rios, S. Carlo. 

660T Creatine transporter deficiency: Novel mutations 

and functional studies. O. Ardon, X. Yin, N. Longo, A. 

Shilon-Hadass, G. Gabis, C. Hoffman, M. Tzadok, G. 

Heimer, S. Sadan, B. Ben-Zeev, Y. Anikster. 

661F Mice deficient for succinyl-CoA synthetase 

exhibit functionally significant mtDNA depletion and 

are a model for mitochondrial disease. T. Donti, M. Ge, 

K. Eldin, B. Graham. 

662T Role of medium chain acyl-CoA dehydrogenase 

in the metabolism of sodium phenylbutyrate. 

K. Kormanik, H. Kang, D. Cuebas, B. Scharschmidt, J. 

Vockley, A.-W. Mohsen. 

663F Common dysfunctional variants of ABCG2 

decrease extra-renal urate excretion and cause 

hyperuricemia. H. Matsuo, T. Takada, A. Nakayama, 

T. Shimizu, H. Kasuga, H. Nakashima, T. Nakamura, Y. 

Takada, Y. Kawamura, Y. Utsumi, H. Ogata, M. Nakamura, 

Y. Sakurai, T. Hosoya, N. Shinomiya, H. Suzuki, K. Ichida. 

664T Exploring the phenotype of MMACHC deficiency 

(cblC) in zebrafish with morpholinos and zinc finger 

nuclease targeted mutagenesis. J. L. Sloan, K. Bishop, T. 

L. Blake, R. J. Chandler, B. P. Brooks, R. Sood, C. P. Venditti. 

665F Comparative study of gene expression profiling 

of skin fibroblasts of Leigh syndrome French Canadian 

subjects and controls. J. Tardif, C. Laprise, LSFC 

Consortium. 


666T SUCLG1 mutations causing mitochondrial depletion 

syndrome with congenital anomalies. H. C. Andersson, M. 

Landsverk, T. Yeh, D. Cejas, D. Singh, L. J. Wong. 

667F A mouse model of mitochondrial complex I 

deficiency exhibits progressive cardiac disease and 

seizures. W. J. Craigen, T. Donti, Y. C. Lai, S. Ather, X. 

Wehrens, B. H. Graham. 

668T Enzyme function affected by mutations in the 

sucrase-isomaltase gene. J. Huang, Z. Wu, S. Uhrich, C. 

R. Scott. 

669F Hyperammonemia and urea cycle homeostasis in 

methylmalonic acidemia. R. J. Chandler, H. Morizono, P. 

J. McGuire, C. P. Venditti. 

670T Propionic acidemia: Is there a decreased 

in tricarboxylic acid cycle enzyme functions? 

K. Chapman, A. Markowitz-Shulman, G. Cunningham, 

J. Cabrera-Luque, M. Summar. 

671F Cap myopathy: A distinct form of congenital 

myopathy. S. J. Piteau, G. Smith, S. Ludwin, J. MacKenzie. 

672T Mutations in the phospholipid remodeling 

gene SERAC1 impair mitochondrial function and 

intracellular cholesterol trafficking and cause dystonia 

and deafness. E. Morava, S. Wortmann, F. Vaz, T. 

Gardeitchik, L. E. L. M. Vissers, J. Schuurs-Hoeijmakers, 

R. Rodenburg, A. Grünewald, C. Klein, T. Kozicz, P. 

van Hasselt, M. Harakalova, W. Kloosterman, I. Barić, 

K. Naess, Z. Krumina, C. Gilissen, H. Bokhoven, J. A. 

Veltman, J. A. M. Smeitink, D. J. Lefeber, R. A. Wevers, A. 

P. M. de Brouwer. 

673F Somatic cell diagnostic studies may miss some 

patients with mutations in MMAA and MMAB genes 

responsible for isolated methylmalonic aciduria. 

L. Dempsey Nunez, M. L. Illson, J. Kent, Q. Huang, A. 

Brebner, D. Watkins, B. M. Gilfix, C. Wittwer, D. S. Rosenblatt. 

674T The clinical spectrum of combined malonic 

and methylmalonic aciduria, a defect in the 

intramitochondrial fatty-acid-biosynthesis pathway. 

I. Manoli, J. L. Sloan, J. J. Johnston, L. Peller, J. C. Sapp, 

L. G. Biesecker, C. P. Venditti. 

675F Neurochemical profiles in children with 

inborn errors of metabolism determined by in vivo 

1H-magnetic resonance spectroscopy. W. Al-Hertani, 

E. Mason, T. Tam, B. Schmitt, S. Blaser, H. Branson, A. 

Schulze. 

676T Analyzing functional phenotypes in fibroblasts 

from patients with clinically-diagnosed mitochondrial 

disease. B. Graham, T. Donti, A. Bessee, W. Craigen, P. 

Bonnen. 

677F Clinical molecular laboratory analysis of the 

genes of fatty acid oxidation. M. T. Hardison, M. 

Landsverk, L. Wong. 

678T Fabry disease: Molecular analysis of GLA in 

females with no family history. D. Doheny, I. Nazarenko, 


POSTER SESSIONS


J. Kim, R. Dobrovolny, R. Desnick. 

679F Maple syrup urine disease due to a new point 

mutation at BCKDHB in Iranian family. M. Hamid, G. R. 

Shariati, A. H. Saberi, M. Mohammadi. 

680T Peanut consumption increases levels of plasma 

very long chain fatty acids in humans. C. T. Lam, D. A. 

Wong, S. D. Cederbaum, B. Lim, Y. Qu. 

681F Diagnostic testing for multiple treatable 

metabolic neurodegenerative disorders by nextgeneration 

sequencing. S. van Koningsbruggen, O. R. 

Mook, G. Visser, M. A. Haagmans, R. C. Hennekam, G. S. 

Salomons, P. Verwaijen, H. R. Waterham, F. A. Wijburg, M. 

M. Mannens. 

682T Prevalence of GNE p.M712T and hereditary 

inclusion body myopathy in Sangesar population of 

Northern Iran. H. Khademian, R. Carbajo, E. Mehravar, L. 

Sandoval, J. Garcia-Figueroa, Z. Khokher, D. No, Y. Valles- 

Ayoub, D. Darvish. 

683F Clinical application of massively parallel sequencing 

for molecular diagnosis of genetically heterogeneous 

glycogen storage diseases. J. Wang, H. Cui, N.-C. Lee, W.- 

L. Hwu, Y. H. Chien, W. J. Craigen, L.-C. Wong, V.-W. Zhang. 

684T Findings from the ZOOM genetic screening 

study of Niemann-Pick disease type C in adults with 

neurological and psychiatric signs. P. Bauer, D. J. 

Balding, H. H. Klünemann, D. Linden, D. Ory, M. Pineda, J. 

Priller, F. Sedel, A. Muller, H. Chadha-Boreham, R. Welford, 

D. S. Strasser, J. E. Wraith, M. C. Patterson. 

685F Detection of mucopolysacchariduria in driedurine 

filter paper samples: A useful technique for 

regions where transportation of liquid samples is 

challenging. R. Giugliani, F. Bender, G. Marasca, R. 

Guidobono, J. De Mari, M. Burin, G. Civallero. 

686T Analysis of non-reducing ends of 

glycosaminoglycans for the diagnosis and monitoring 

of therapy in mucopolysaccharidoses type I and type II. 

T. Yuzyuk, E. Schwarz, J. Brown, B. Crawford, M. Pasquali. 

687F Rare, bizarre, and complex illnesses with unusual 

medical events in patients should be a signal to trigger 

a mitochondrial work-up: Clinical decision tree for 

mitochondrial disorder workup is provided. A. Perszyk. 

688T Clinical re-sequencing of 450 genes to diagnose 

mitochondrial disorders: Results from the first 119 

patients. J. DaRe, V. Vasta, T. Tran, J. Penn, L. Susswein, 

J. Booker, S. Hahn. 

689F Insulin resistance: Development of a clinical 

assay for INSR mutation detection. M. Procter, O. Ardon, 

A. Carey, H. Amiri, N. Longo, R. Mao. 

690T Comparative transcriptome profiles in 

Gaucher disease mice treated with imiglucerase or 

velaglucerase alfa. N. Dasgupta, Y.-H. Xu, S. Oh, Y. Sun, 

L. Jia, S. Barnes, M. Keddache, G. A. Grabowski. 

691F Enzyme replacement therapy started at birth 

improves outcome in difficult-to-treat organs in 

mucopolysaccharidosis I mice. G. Baldo, F. Mayer, B. 

Martinelli, F. Meyer, P. de Oliveira, A. Tavares, L. Meurer, T. 

de Carvalho, U. Matte, R. Giugliani. 

692T Long-term bone mineral density response 

to enzyme replacement therapy in a retrospective 

pediatric cohort of Gaucher patients. B. Bembi, G. 

Ciana, L. Deroma, A. M. Franzil, A. Dardis. 

693F Evaluation of long-term enzyme replacement 

therapy for children with Fabry disease. A. M. Hebert, T. 

Taber, L. Lacbawan, M. Banikazemi, O. Goker-Alpan. 

694T Combined therapy in a patient with Gaucher 

type III. J. Navarrete, P. Galindo, R. Delgado, A. Limon. 

695F Biochemical characterization of myelin 

abnormalities in the corpus callosum in MPS I 

dogs. S.-H. Kan, S. Q. Le, J. K. Yee, M. Guzman, N. M. 

Ellinwood, P. I. Dickson. 

696T Enzyme replacement therapy in a Gaucher type 

3 patient: Report of a paradigmatic case. F. Vairo, A. D. 

Dornelles, S. D. Mittelstadt, M. Wilke, D. Doneda, C. B. O. 

Netto, I. V. D. Schwartz. 

697F Alteration in liver TGFb expression and signaling 

in MPS I canines and the effect of enzyme replacement 

therapy. M. Vera, S. Q. Le, S. H. Kan, P. I. Dickson. 

698T Korean experience with citrin deficiency. B. H. 

Lee, Y. M. Kim, G. H. Kim, K. M. Kim, H. W. Yoo. 

699F Molecular diagnosis in mitochondrial respiratory 

chain deficiency using exome sequencing. 

R. Kopajtich, T. B. Haack, B. Haberberger, K. Danhauser, 

J. A. Mayr, W. Sperl, U. Ahting, G. F. Hoffmann, M. 

Tesarova, E. Frisch, M. Schülke, I. Wittig, P. Freisinger, 

D. Ghezzi, M. Zeviani, A. Rötig, E. Graf, T. M. Strom, T. 

Meitinger, H. Prokisch. 

700T Occurrence of lysosomal storage disorders in 

children with hepatomegaly or hepatosplenomegaly: 

An institutional experience. M. Mistri, C. Ankeleshwaria, 

A. Bavdekar, M. Kamate, C. Datar, F. Sheth, J. Sheth. 

701F Exome sequencing reveals that mutations in the 

genes encoding aminoacyl tRNA synthetases cause 

a variety of clinical syndromes. M. T. Geraghty, M. J. 

M. Nowaczyk, P. Humphreys, J. Schwartzentruber, C. L. 

Beaulieu, A. Smith, L. Huang, J. Majewski, D. E. Bulman, 

K. M. Boycott, FORGE Consortium. 

702T Novel mutations in the PC gene in patients with 

type B pyruvate carboxylase deficiency. E. Oestergaard, 

M. Duno, . LB. Møller, H. S. Kalkanoglu-Sivri, A. Dursun, 

D. Aliefendioglu, H. Leth, M. Dahl, E. Christensen, F. 

Wibrand. 

703F Bioinformatics and genotypic evaluation of the 

IDUA gene and protein in MPS I patients diagnosed in 

Colombia, Ecuador and Perú. H. Velasco, J. Gonzalez, 

T. Pineda. 


704T A founder mutation causing a severe 

methylenetetrahydrofolate reductase deficiency in 

Bukharian Jews. S. Ben-Shachar, T. Zvi, A. Rolfs, A. B. 

Klobus, Y. Yaron, A. Bar-Shira, A. Orr-Urtreger. 

705F Somatic cell and molecular studies on an 

atypical patient with combined homocystinuria and 

methylmalonic aciduria (cblC). A. Brebner, C. Ficicioglu, 

D. Watkins, T. Pastinen, D. S. Rosenblatt. 

706T Exome sequencing reveals a homozygous ABCD4 

mutation in an adolescent with hyperpigmentation, 

ischemia, hyperhomocysteinemia, and methylmalonic 

aciduria. J. C. Kim, A. Brebner, N. C. Lee, W. L. Hwu, Y. 

H. Chien, S. Fahiminiya, J. Majewski, D. Watkins, D. S. 

Rosenblatt. 

707F Molecular characterization of the GALK1 gene 

in Filipino patients with non-classical galactosemia. 

C. L. T. Silao, K. N. Hernandez, D. M. Canson, S. C. 

Estrada. 

708T Exome sequencing reveals a frequent Moroccan 

founder mutation in SLC19A3 as a new cause of 

early-childhood fatal Leigh syndrome. H. Smeets, M. 

Gerards, R. Kamps, I. Boesten, E. Jongen, B. de Koning, 

K. Schoonderwoerd, A. Sefiani, I. Ratbi, W. Coppieters, L. 

Karim, I. de Coo, B. van den Bosch. 

709F SATB2 acts as an activator of the UPF3B gene. 

P. Leoyklang, K. Suphapeetiporn, C. Srichomthong, S. 

Tongkobpetch, H. Dorward, A. R. Cullinane, M. Huizing, W. 

A. Gahl, V. Shotelersuk. 

710T Low bone strength is a manifestation of 

phenylketonuria in mice and is attenuated by a 

glycomacropeptide-based diet. R. D. Blank, P. 

Solverson, S. G. Murali, S. J. Litscher, D. M. Ney. 

711F Natural history study of patients with hereditary 

inclusion body myopathy. J. K. De Dios, J. Shrader, G. 

Joe, C. Ciccone, A. Mankodi, J. Dastgir, C. Bonnemann, 

M. Bevans, D. Draper, J. McKew, M. Huizing, W. A. Gahl, 

N. Carrillo-Carrasco. 

712T Hepatic carnitine palmitoyltransferase 

1A deficiency: Adulthood complications and a 

Durango, Mexico founder mutation. N. M. Gallant, N. 

Vatanavicharn, D. Salazar, W. R. Wilcox. 

713F Basis of immune dysregulation in Gaucher 

disease. C. Martin, L. Kozhaya, T. Taber, D. Unutmaz, O. 

Goker-Alpan. 

714T Longitudinal change in brain volumes and 

cognitive function in MPS IIIA. I. Nestrasil, K. Delaney, 

B. Yund, A. Ahmed, K. Rudser, V. Kovac, P. Haslett, C. 

Richard, C. Whitley, E. Shapiro. 

715F Is the profile of medical signs and 

symptoms associated with specific genotype in 

mucopolysaccharidosis type I? A. Ahmed, R. Cooksley, 

C. Whitley, E. Shapiro. 

716T Prevalence of Fabry disease in patients with 


chronic pain. C. Goizet, V. Dousset, M. Cadenne, 

E. Maurat, S. François, C. Blanchard, P. Poulizac, S. 

Tabuteau, C. Hubert, S. Laborde, P. Casenave, X. Ferrer, 

G. Solé, I. Coupry, F. Bauduer, T. Levade, D. Lacombe. 

717F Infantile onset severe phenotype of cblG 

disorder in a patient and abnormal neurotransmitter 

metabolites. R. Jobling, S. Hewson, S. Mercimek- 

Mahmutoglu. 

718T Abnormal central tegmental tract signal in a 

patient with mild glycogen storage disease type 1a. 

D. L. Renaud, S. T. Janousek, D. K. Freese, W. F. Schwenk. 

719F Mild clinical and atypical somatic cell findings 

in a cblF patient detected by expanded newborn 

screening. D. Rosenblatt, A. Brebner, I. R. Miousse, J. C. 

Kim, M. T. Geraghty, D. Watkins, C. Armour. 

720T Fumarase deficiency. Expanding the phenotype. K. 

Siriwardena, W. Al-Hertani, J. Kronick, D. Chitayat. 

721F Renal growth in isolated methylmalonic acidemia. 

P. Kruszka, I. Manoli, J. Sloan, C. P. Venditti. 

722T Plasmalogen deficiency in the Pex7 hypomorphic 

mouse, a model of rhizomelic chondrodysplasia 

punctata, causes neonatal lethality associated with 

late lung maturational defects. N. Braverman, X. He, 

S. Jiralerspong, G. Nimmo, Y. Chen, J. Hacia, A. Moser, 

W. Cui. 

723F Phenylketonuria and defective metabolism of 

tetrahydrobiopterin. A. Al-Aqeel. 

724T Two cases of neonatal onset type II citrullinemia 

diagnosed by urine organic acids based newborn 

screening. Y. Watanabe, K. Tashiro, K. Aoki, T. Inokuchi, 

Y. Seki, T. Yanagi, T. Mizuochi, J. Okada, M. Yoshino, T. 

Matsuishi. 

725F Translational research in newborn screening: 

Implementation of a consensus data set for the 

long-term follow-up of patients to improve scientific 

understanding and optimize health outcomes. S. Berry, 

K. Hassell, A. Brower, Joint Committee of NBSTRN Clinical 

Centers Workgroup and NCC/RC Long-Term Follow-Up 

Workgroup. 

726T Newborn screening for infantile Pompe disease: 

Report of a pilot study in National Center for Child 

Health and Development. M. Kosuga, K. Kida, N. Fuji, T. 

Okuyama. 

727F The identification of infants with Fabry, Pompe, 

and mucopolysaccharidosis-I from newborn blood 

spots. C. R. Scott, S. Elliott, N. Buroker, L. I. Thomas, M. 

Glass, F. Turecek, M. H. Gelb. 

728T Bare lymphocyte syndrome type III, a novel 

mutation in RFXAP and failure to identify with newborn 

screening for severe combined immunodeficiency. L. 

Randolph, J. Chase, M. Aguilera, J. Siles, J. Church. 

729F Standard value of urine HVA/VMA ratio in the 


POSTER SESSIONS


early neonatal period to screen for Menkes disease. M. 

Yagi, N. Kusunoki, T. Lee, H. Awano, T. Yokota, A. Miwa, A. 

Shibata, I. Morioka, Y. Takeshima, K. Iijima. 

730T Correlation of phenylalanine concentration with 

neuropsychiatric symptom scores in phenylketonuria 

patients. T. Morgan, N. Owen, A. Bawcom, G. Wey, L. 

Ashford, J. Phillips. 

731F A rare disease–simple treatment: Sepiapterin 

reductase deficiency with a novel mutation. I. M. Zamir, 

B. Ben-Zeev, A. Mimouni-Bloch, S. Msilaty-Gross, Y. 

Anikster. 

732T A phase 2a study to investigate the effects of 

a single dose of migalastat HCl, a pharmacological 

chaperone, on alpha-Gal A activity in subjects 

with Fabry disease. F. K. Johnson, P. N. Mudd, Jr., S. 

Sitaraman, R. Winkler, J. Flanagan, R. Khanna, K. J. 

Valenzano, D. J. Lockhart, P. Boudes on Behalf of Study 

AT1001-013 Principal Investigators. 

733F A novel drug target site for medium chain acyl- 

CoA dehydrogenase deficiency: Implications for future 

drug therapy. H. Kang, J. Vockley, A.-W. Mohsen. 

734T Immune response against enzyme 

replacement therapy alters enzyme distribution in 

mucopolysaccharidosis I mice. S. Le, S.-H. Kan, M. 

Vera, P. Dicskon. 

735F Hepatic gene transfer of TFEB results in 

clearance of mutant alpha-1-antitrypsin. N. Pastore, P. 

Piccolo, F. Annunziata, R. M. Sepe, F. Vetrini, D. Palmer, P. 

Ng, K. Blomenkamp, J. Teckman, A. Ballabio, N. Brunetti- 

Pierri. 

736T Neuronal differentiation of induced pluripotent 

stem cells from Gaucher disease fibroblasts. J. B. 

Florer, C. N. Mayhew, Y. Sun, G. A. Grabowski. 

737F Resveratrol and bezafibrate both dramatically 

induce transcription of aspartoacylase: A potential 

new treatment for Canavan disease? B. S. Andresen, T. 

K. Doktor, J. O. Sass, J. Bastin, F. Djouadi, T. J. Corydon, 

E. Christensen, A. M. Lund, H. S. Andersen. 

738T The ingestion of a high protein diet during 

gestation magnifies the in vivo production of 

metabolites in MMA mice in utero. D. Brown, J. Senac, 

J. Sloan, I. Manoli, C. Venditti. 

739F Danshen extract regulates energy metabolism by 

activating the AMPK-SIRT1-PGC-1a. Y. H. Cho, C. R. 

Ku, H. Lee, E. J. Lee. 

740T Protocols for sick day management and 

emergency interventions for mitochondrial disorder 

patients are important for family education, treatment 

and support. M. Fredrich, A. Perszyk. 

741F High fat diet paradoxically improves cold 

survival in a mouse model of medium-chain acyl-CoA 

dehydrogenase deficiency. S. E. McCandless, L. Rice, 

C. L. Hoppel. 

742T Sapropterin treatment for toddlers with PKU. N. 

L. Pallone. 

743F Ubiquinol preparations are numerous and 

selection of appropriate mitochondrial supplement 

requires careful scrutiny by family and doctor. 

N. Franklin, A. Perszyk. 

744T The role of N-acetylcysteine in treating 

mitochondrial liver disease. A.-K. Niemi, G. M. Enns. 

745F Phase 3 study of migalastat HCl for Fabry 

disease: Stage 1 results. K. Nicholls, C. Feliciani, S. 

Shankar, F. Ezgu, S. G. Janmohamed, S. M. Laing, R. 

Schroyer, A. C. Bragat, S. Sitaraman, V. Sniukiene, R. E. 

Winkler, P. Boudes. 

746T Differential risk for Parkinson disease in males 

and females with Gaucher disease. D. Elstein, R. 

Alcalay, T. Dinur, G. Altarescu, E. Ben-Chetrit, A. Zimran. 

747F Potential cluster of MPS IV A in Northeast Brazil. 

F. Kubaski, A. C. Brusius-Facchin, P. F. V. Medeiros, C. S. 

E. Gondim, R. Giugliani, S. Leistner-Segal. 

748T Persistent thrombocytopenia in type I Gaucher 

disease: Evaluation and management. H. Rosenbaum. 

749F Chemotactic factors critical for increased 

immunological cell invasion in Gaucher disease mice. 

M. K. Pandey, N. A. Jabre, G. A. Grabowski. 

750T Systematic screening for treatable inborn errors 

of metabolism in intellectual disability patients: First 

study results. S. Stockler, R. Salvarinova, G. Horvath, 

Y. Lillquist, H. Vallance, S. Sinclair, M. Lafek, T. Murphy, 

A. Lehman, M. Patel, M. Demos, M. Connolly, C. van 

Karnebeek, TIDE BC, Treatable Intellectual Disability 

Endeavor in British Columbia. 

751F A novel homozygous mutation in EARS2 causing 

a fatal multisystem infantile disease. A. Pyle, B. 

Talim, H. Griffin, H. Topaloglu, M. Santibanez-Koref, P. F. 

Chinnery, R. Horvath. 

752T Novel phenotype associated with OPA mutations? 

M. Tesarova, V. Stranecky, H. Kratochvilova, Z. Hajkova, 

J. Sladkova, J. Spacilova, H. Hansikova, T. Honzik, H. 

Hartmannova, L. Noskova, L. Piherova, E. Lalonde, J. 

Majewski, S. Kmoch, J. Zeman. 

753T Evaluating pain, negative mood, and resilience 

in patients affected by Fabry disease. A. M. Lelis, R. 

Duran, L. Beckman, J. Garbanati, W. Wilcox, J. Mirocha. 

Therapy for Genetic Disorders 

754W Comparison of the differentiation potential of 

human mesenchymal stem cells and several animal 

species. F. Piryaei, M. Ramezani, M. Kadivar, F. Piryaei. 

755W Bone marrow-derived cells as a stable source of 

sialic acid for mice with GNE myopathy. M. C. Malicdan, 


K. Momma, F. Funato, Y. K. Hayashi, I. Nonaka, M. 

Huizing, W. Gahl, C. F. Boerkoel, I. Nishino, S. Noguchi. 

756W Lysine restricted diet as novel therapy for 

pyridoxine dependent epilepsy: First observational 

study. C. van Karnebeek, H. Hartmann, S. Jaggawantru, 

J. P. Collet, B. Plecko, S. Stockler, Pyridoxine Dependent 

Epilepsy Consortium. 

757W High-fat diet rescues lethality of homozygous 

knockin R155H mice with VCP-associated disease. 

K. J. Llewellyn, A. Nalbandian, C. Nguyen, V. E. Kimonis. 

758W Serin diet relieves symptoms of hereditary 

sensory and autonomous neuropathy type 1A caused 

by a c.992 C.T, p.(Ser331Phe), mutation in SPTLC1. 

B. Rautenstrauss, E. Wilichowski, E. Holinski-Feder, T. 

Hornemann. 

759W Pilot trial of high-dose carnitine supplementation 

in young, non-dysmorphic males with autism spectrum 

disorders. R. Goin-Kochel, F. Scaglia, C. Schaaf, D. Dang, 

A. Laakman, K. Nowell, A. L. Beaudet. 

760W Results of the phase II multicenter, single 

arm, phase II controlled trial ‘IEDAT-01’. L. Chessa, V. 

Leuzzi, A. Plebani, R. Micheli, A. R. Soresina, I. Quinti, D. 

D’Agnano, C. Bozzao, P. Lulli, M. Magnani. 

761W Generation and characterisation of FRDA mouse 

model cell lines. C. Sandi, S. Al-Mahdawi, V. Ezzatizadeh, 

S. Virmouni, M. Sandi, M. Pook. 

762W Non-penetrance in RP17? An investigation 

into the molecular mechanisms underlying retinitis 

pigmentosa 17 with the view to developing novel genebased 

therapies. A. Pandor, S. Prince, R. Ramesar. 

763W Pharmacological evaluation of a CNP analogue 

for the treatment of achondroplasia. F. Lorget, N. Kaci, 

J. Peng, C. Benoist-Lasselin, E. Mugniery, T. Oppeneer, D. 

Wendt, S. Bullens, S. Bunting, L. Tsuruda, C. O’Neill, F. Di 

Rocco, A. Munnich, L. Legeai-Mallet. 

764W Role of vitamin D in osteoarthritis knee: A six 

month double blind, randomized, placebo control trial. 

S. R. Nath, D. Sanghi, S. Raj, K. Baghel, A. Mishra. 

765W Use of the amniotic fluid transcriptome to 

identify novel antenatal treatments for fetuses affected 

with Down syndrome. F. Guedj, L. Massingham, K. 

Johnson, U. Tantravahi, D. Bianchi. 

766W Treatment of basal cell carcinomas with a 

hedgehog pathway inhibitor vismodegib in basal cell 

nevus syndrome. A. Treherne, S. Bale, W. Chen, J. R. 

Toro. 

767W TGFb signaling exerts dimorphic effects on 

aortic aneurysm formation and progression in Marfan 

syndrome. L. Carta, J. R. Cook, M. Del Solar, E. Chiu, N. 

Clayton, C. Nelson, B. Wentworth, F. Ramirez. 

768W Safety of velaglucerase alafa in type 1 Gaucher 

disease patients with anti-imiglucerase antibodies. O. 


Goker-Alpan, G. M. Pastores, B. Rosenbloom, J. Ibrahim, 

G. M. Cohn, D. Zahrieh, P. K. Mistry. 

769W Safety and tolerability of velaglucerase alfa 

enzyme replacement therapy in patients aged $65 

years with type 1 Gaucher disease: A multicenter, open 

label trial. J. Ibrahim, G. M. Pastores, B. Rosenbloom, O. 

Goker-Alpan, G. M. Cohn, D. Zahrieh, P. K. Mistry. 

770W A double blind, placebo controlled trial of 

minocycline in children with fragile X syndrome. R. 

Hagerman, M. J. Leigh, D. V. Nguyen, T. I. Winarni, S. 

Rivera, A. Schneider, T. Chechi, D. Hessl. 

771W Enhancing suppression of nonsense mutations 

in Duchenne muscular dystrophy. P. S. Lai, R. 

Elangovan, S. K. H. Tay, P. S. Low. 

772W Long-term safety of migalastat HCl in patients 

with Fabry disease. D. P. Germain, R. Giugliani, G. M. 

Pastores, K. Nicholls, S. Shankar, R. Schiffmann, D. 

Hughes, A. B. Mehta, S. Waldek, A. Jovanovic, K. Benistan, 

J. K. Simosky, V. Sniukiene, R. Winkler, P. F. Boudes. 

773W Eliglustat, an investigational oral therapy for 

Gaucher disease type 1: Phase 2 results after 4 years 

of treatment. M. J. Peterschmitt, E. Lukina, N. Watman, 

M. Dragosky, G. M. Pastores, E. Avila Arreguin, H. 

Rosenbaum, A. Zimran, E. Sysoeva, R. Aguzzi, L. H. Ross, 

A. C. Puga. 

774W Ammonia control in children ages 2 months 

through 5 years with urea cycle disorders: Comparison 

of sodium phenylbutyrate and glycerol phenylbutyrate. 

W. Smith, G. Diaz, U. Lichter-Konecki, S. A. Berry, C. O. 

Harding, S. E. McCandless, C. LeMons, K. A. Dickinson, 

D. Coakley, T. Moors, M. Mokhtarani, B. F. Scharschmidt, 

B. Lee. 

775W A comprehensive genetic and functional analysis 

of a large cohort of patients with Kabuki syndrome: 

Suggestions for therapy. L. Micale, C. Fusco, B. Augello, 

M. N. Loviglio, C. Maffeo, M. T. Pellico, L. Zelante, G. 

Merla. 

776W Differential effects of ramipril and losartan 

therapy on phenotype in mice model for Marfan 

syndrome. B. L. Lima, G. P. Cardozo, G. R. Fernandes, L. 

V. Pereira. 

777W Curcumin facilitates a transitory cellular stress 

response in Trembler-J mice. Y. Okamoto, K. Mehrdad, 

D. Pehlivan, W. Wiszniewski, G. Snipes, J. Lupski. 

778W Novel therapeutic assays for epidermolysis 

bullosa simplex. J. Lacroix, T. Farez, G. Leclerc, A. 

Dupérée, J. Powell, C. McCuaig, C. Morin, V. Legendre- 

Guillemin, M. Bchetnia, C. Laprise. 

779W Sodium butyrate and valproic acid as a splicing 

restoring agents in erythroid cells of b-thalassaemic 

patients. M. Taghizadeh, S. Mansoori Derakhsham, M. 

Shekari Khaniani, A. Hoseinpour Pheysi. 

780W Bisphosphonate therapy in Hajdu-Cheney 


POSTER SESSIONS


syndrome: Response, suggested protocol and future 

directions in treatment. M. D. Irving, W. M. Drake, J. 

Pittaway, D. Dafou, M. A. Simpson, R. T. Trembath. 

781W A small chemical, TG003, enhances skipping of 

mutated dystrophin exons: The third example revealing 

a decrease of exonic splicing enhancer density in 

common. A. Nishida, Y. Takeshima, N. Kataoka, M. Yagi, 

H. Awano, T. Lee, K. Iijima, M. Hagiwara, M. Matsuo. 

782W Bezafibrate as treatment option in patients with 

mitochondrial complex I deficiency. B. M. Haberberger, 

P. Freisinger, V. Strecker, M. Steger, H. Heide, B. F. Müller, 

T. Beckhaus, K. Heim, U. Ahting, B. Rolinski, J. Mayr, 

A. Rötig, W. Sperl, M. Zeviani, I. Wittig, T. Meitinger, H. 

Prokisch. 

783W FMF patients homozygous for M694V have 

incomplete response to colchicine. H. Yonath, M. Lidar, 

N. Shechter, F. Sikron, S. Sadetzki, P. Langevitz, A. Livneh, 

E. Pras. 

784W CNS administration of recombinant human 

tripeptidyl peptidase-1 attenuates neurodegeneration, 

improves function, and increases lifespan in a canine 

model of classical late infantile neuronal ceroid 

lipofuscinosis. B. Vuillemenot, M. Katz, D. Kennedy, J. 

Coates, C. Sibigtroth, R. Whiting, F. Wininger, R. Reed, 

E. Adams, M. Butt, R. Cahayag, S. Keve, L. Tsuruda, D. 

Musson, C. O’Neill. 

785W Intrathecal enzyme replacement therapy 

improves diffusion tensor imaging abnormalities 

and volume loss in the corpus callosum in canine 

mucopolysaccharidosis I. P. Dickson, S. Chen, I. 

Nestrasil, V. Kovac, J. Jens, S. Q. Le, S.-h. Kan, M. A. 

Guzman, J. Provenzale, E. G. Shapiro, C. H. Vite, A. 

Mlikotic, N. M. Ellinwood. 

786W Enzyme replacement therapy using chemically 

modified enzyme markedly enhances therapeutic 

efficacies for bone lesions in mucopolysaccharidosis 

VII murine model. S. Tomatsu, D. Rowan, J. Grubb, B. 

Haupt, A. Montaño. 

787W A phase 2 multicenter, open label, switch 

over trial to evaluate the safety and efficacy of 

Abcertin®(imiglucerase) in patients with type 1 

Gaucher disease previously treated with imiglucerase. 

H. W. Yoo, B. H. Lee, J. S. Lee, J. M. Ko, Y. B. Sohn. 

788W Results of 12 months use of taliglucerase alfa 

for Gaucher disease in an unselected cohort of adult 

patients on an Israeli compassionate use program. A. 

Zimran, H. Maayan, G. Altaescu, M. Tiomkin, M. Phillips, 

D. Elstein. 

789W Gaucher disease type 2: Outcomes of enzyme 

replacement therapy and impact on quality of life. 

C. Prada, R. Hopkin, L. Bailey, A. Lovell, N. Leslie, G. 

Grabowski. 

790W Efficiency of various antisense oligonucleotides 

for correcting ATM pre-mRNA in a patient with ataxiatelangiectasia 

with a deep intronic splicing mutation. 

S. Cavalieri, E. Pozzi, R. Cavalli, R. A. Gatti, A. Brusco. 

791W In utero brain-directed AAV gene therapy results 

in rapid, robust, and specific transduction of mouse 

choroid plexus epithelia. M. Haddad, A. Donsante, S. G. 

Kaler. 

792W Gene and stem cell treatment for alpha-1 

antitrypsin deficiency. B. Feinerman. 

793W Identifying motor neuron transduction 

efficiencies that are efficacious in SMA mice and 

achievable by intrathecal delivery in a large animal 

model. S. Cheng, M. Passini. 

794W Differential response to exogenous MeCP2 in 

mouse models of Rett syndrome. J. Young, V. Camarena, 

M. Saez, A. Abrams, K. Bayetti, A. Castle, K. Walz. 

795W Preclinical trial of trauma-induced osteoarthritis 

therapy by overexpressing matrix protein and reducing 

inflammation by gene-transfer. M. Z. C. Ruan, K. Guse, 

A. Erez, B. C. Dawson, Y. Chen, B. Lee. 

796W Towards lentiviral gene therapy for the treatment 

of MNGIE. R. De Coo, M. Stok, R. Yadak, H. Smeets, N. 

Van Til, G. Wagemaker. 

797W Directing miRNA-regulatory PNAs to breast 

cancer cells with synthetic targeting peptides. Y.-Y. Jin, 

C.-P. Chen, M. L. Thakur, E. Wickstrom. 

798W Effective inhibition of human cytomegalovirus gene 

expression and lytic replication by DNA-based external 

guide sequence. H. Li, X. Jia, L. Sun, T. Zhou, Z. Deng. 

799W Oncogenic EGFR allele specific inhibition by 

RNA interference for cancer therapy lacking adverse 

effects. M. Takahashi, T. Chiyo, T. Okada, H. Hohjoh. 

800W Remission induction of spinocerebellar ataxia 6 

by systems therapy with medicinal herbs. T. Okabe. 

801W Disease progression in MPS IIIA (Sanfilippo 

syndrome type A) is associated with genotype and age 

at diagnosis. C. B. Whitley, I. Nestrasil, K. Delaney, R. 

Cooksley, P. Haslett, C. Richard, E. Shapiro. 

802W Therapeutic efficacy of D-penicillamine 

encapsulated alginate/chitosan nanoparticles in rat model 

of copper toxicity with neurobehavioral impairments. 

R. Prasad, A. Pal, S. Attri, B. Thappa, R. Vasishta. 

803W High-efficiency gene correction of a Parkinson’s 

disease associated LRRK2 gene variant in patientderived 

iPS cells. B. Schuele, J. Laganiere, S. K. Mak, 

B. J. Vu, M. Vangipuram, Y. A. Huang, D. E. Paschon, O. 

Macaranas, A. Flierl, R. Sundararajan, P. D. Gregory, F. D. 

Urnov, J. W. Langston, H. S. Zhang. 

804W Inhibition of CTR1 by antisense oligonucleotides 

in mouse model for Wilson disease reduces copper 

accumulation and improves liver pathology. T. R. 

Grossman, P. Lincoln, M. McCaleb. 


Development 

805F Genome-wide identification of human cardiac 

developmental genes located within regions 

associated with congenital heart disease. K. D. Ajbro, 

T. A. Andersen, M. Bak, J. A. Rosenfeld, K. Møllgård, S. C. 

Eliasson, R. R. Jakobsen, E. Bendsen, N. Tommerup, L. G. 

Schaffer, K. Lage, l. A. Larsen. 

806F Voltage-gated sodium channels are required for 

proliferation of embryonic myocardium in zebrafish. 

J. Bennett, D. Stroud, J. Becker, D. Roden. 

807F Modeling early heart development in Down 

syndrome using sibling hESC lines. A. Bosman, A. 

Letourneau, M. Zuchelli, V. Tohonen, O. Hovatta, S. E. 

Antonarakis, M. E. Jaconi. 

808F Ofd1 controls dorso-ventral patterning and 

axoneme elongation during embryonic brain 

development. A. de Angelis, A. D’Angelo, B. Avallone, I. 

Piscopo, R. Tammaro, M. Studer, B. Franco. 

809F Exome sequencing identifies a single mutation 

in the CCDC114 gene as the cause for primary ciliary 

dyskinesia in the Volendam population. A. Onoufriadis, 

T. Paff, D. Anthony, A. Shoemark, D. Micha, B. Kuit, M. 

Schmidts, S. Petridi, R. Wilson, C. Hogg, R. Emes, UK10K, 

E. M. K. Chung, G. Pals, H. M. Mitchison. 

810F ALDH1A3 loss of function causes bilateral 

anophthalmia and hypoplasia of the optic nerve and 

optic chiasm. M. Yahyavi, A. S. De Preux Charles, T. Xiao, 

T. Bardakjian, A. Schneider, H. Baier, A. Slavotinek. 

811F Differential expression of lung function genes by in 

utero smoke exposure during human lung development. 

S. Sharma, A. Kho, K. Haley, C. Vyhlidal, R. Gaedigk, L. 

Kobzik, J. S. Leeder, K. G. Tantisira, S. T. Weiss. 

812F The C7orf58 locus is strongly associated with 

both bone mineral content and density at the pediatric 

distal radius. B. S. Zemel, M. Li, S. Deliard, C. E. Kim, 

L. Qu, R. M. Chiavacci, J. M. Lappe, H. J. Kalkwarf, V. 

Gilsanz, H. Hakonarson, S. E. Oberfield, J. A. Shepherd, 

S. F. A. Grant. 

813F A novel GNAI3 gain-of-function mutation 

associated with auriculo-condylar syndrome in a 

Brazilian family. V. L. R. Tavares, T. T. Torres, H. Buermans, 

C. Masotti, D. F. Bueno, J. A. Horst, R. M. Zechi-Ceide, M. 

L. Cunningham, M. L. Guion-Almeida, M. R. Passos-Bueno. 

814F Non-syndromic cleft lip/palate: A disease driven 

by deficiency in genomic repair? G. S. Kobayashi, L. A. 

Cruz, D. Y. Sunaga, D. F. Bueno, P. Francis-West, A. Kutta, 

B. V. P. Almada, S. G. Ferreira, M. Aguena, L. C. Andrade- 

Lima, C. F. Menck, M. R. Passos-Bueno. 

815F Genetic characterization of osteopenia and bone 

overgrowth in Marfan syndrome mice. S. Smaldone, J. 

R. Cook, M. Del Solar, F. Ramirez. 

816F Evaluating the genetic disruption of lung hypoplasia 


in a mouse model of CDH. S. C. Schecter, J. Wu, D. Miniati. 

817F The role of FMRP during early steps of 

neurodevelopment. B. Bardoni, L. Davidovic, B. Mari, O. 

Khalfallah. 

818F rbm24a and rbm24b Are required for normal 

somitogenesis and craniofacial development and are 

essential for Notch signaling. S. Maragh, R. A. Miller, S. 

L. Bessling, W. Huang, M. J. Parsons, A. S. McCallion. 

819F Kabuki syndrome: Functional analysis of 

MLL2 and KDM6A in vertebrate development. P. Van 

Laarhoven, L. Neitzel, E. A. Geiger, E. H. Zackai, K. B. 

Artinger, J. E. Ming, T. H. Shaikh. 

820F Fibulin-4b is required for cardiovascular and 

musculoskeletal development as an antagonist of 

transforming growth factor-beta. Z. Urban, S. M. Khatri, 

A. B. Maxfield. 

821F Three-dimensional study of Ror2-/- and 

Wnta5-/- mice craniofacial phenotype using two 

imaging techniques. S. Beiraghi, V. Leon-Salazar, J. 

Zhang, D. Idiyatullin, M. Garwood, A. S. L. Fok, M. Maga, 

Y. Yang. 

822F Retinal disease gene identification and 

generation of photoreceptor gene regulatory networks 

by ChIP-seq analysis of multiple transcription factors. 

H. Hao, M. Brooks, M. Seifert, A. Swaroop. 

823F Genome-wide ChIP-seq analysis to identify 

mouse Foxl2 binding sites in vivo. M. Marongiu, A. 

Sbardellati, L. Marcia, A. Meloni, R. Cusano, A. Angius, G. 

Fotia, F. Cucca, L. Crisponi. 

824F Cc2d2a is required for cilia biogenesis. S. Veleri, 

T. J. Foskett, S. H. Manjunath, A. Longo, M. A. English, P. 

Liu, J. Lei, C. Gao, R. N. Fariss, R. Sood, R. A. Rachel, P. 

Liu, L. Dong, A. Swaroop. 

825F Prdm16 is required during mouse craniofacial 

development. B. C. Bjork, F. Schnutgen, L. Furlan, B. 

Nelson, D. R. Beier. 

826F Examination of lungs and kidneys in a mouse 

model of osteogenesis imperfecta. E. Carter, S. Doty, N. 

Pleshko, C. Raggio. 

827F Pathway analysis by quantitative profiling of gene 

expression patterns in developing mouse retina. M. 

J. Brooks, I. Nasonkin, S. Perez, S. Veleri, J. Roger, M. 

Seifert, A. Swaroop. 

828F Essential roles of FGF ligands in endochondral 

and intramembranous bone development. I. H. Hung, D. 

M. Ornitz, G. C. Schoenwolf, M. Lewandoski. 

829F Taking a different pathway: Notchless plays with 

p53 and Wnt during embryogenesis. A. C. Lossie, C.-L. 

Lo, J. B. Sherrill. 

830F Developmental defects in the retina of Pias3 


POSTER SESSIONS


conditional knockout mice. J. E. Roger, H. Breit, D. 

Cheng, L. Dong, A. Swaroop. 

831F Uncovering the function of TMED2 during 

trophoblast differentiation. T. Heba, A. Zakariyah, L. A. 

Jerome-Majewska. 

832F Mouse models of neurodevelopmental disorders: 

Overlap between FoxG1 and MeCP2. S. A. Adams, R. 

Woods, S. Luu, J. M. LaSalle. 

833F Comprehensive characterization of a zebrafish 

model for pseudoxanthoma elasticum. M. J. Hosen, O. 

M. Vanakker, A. Willaert, A. Huysseune, P. J. Coucke, A. 

De Paepe. 

834F Mouse model reveals the role of SOX7 in the 

development of congenital diaphragmatic hernia 

associated with recurrent deletions of 8p23.1. D. A. 

Scott, M. J. Wat, T. F. Beck, A. Hernández-García, Z. Yu, 

D. Veenma, M. Garcia, A. M. Holder, J. J. Wat, Y. Chen, C. 

A. Mohila, K. P. Lally, M. Dickinson, D. Tibboel, A. de Klein, 

B. Lee. 

835F Generation and characterization of humanized 

DUF1220 transgenic mice. J. G. Keeney, N. Anderson, D. 

Restrepo, J. M. Sikela. 

836F Overexpression of Sox9 in keratinocytes changes 

hair follicle cycling in mice. Y. Zhang, Z. H. Zheng, Y. Q. 

Xu, S. L. Zhou, L. Shi, X. Zhang. 

837F Integration of BAC transgenesis, evolutionary 

conservation, 3C, DNaseHS, and ChIP on chip data 

identifies a candidate osteoblast enhancer of Bmp2. 

E. M. Broeckelmann, S. Pregizer, D. P. Mortlock. 

838F The role of Filamin b in skeletogenesis and BMP 

signaling in mice. J. Zieba, A. Sarukhanov, M. Ivanova, A. 

S. Kim, A. E. Merrill, D. Krakow. 

839F The role of SOX7 in cardiovascular 

development. A. Hernández-Garcia, M. Wat, M. Garcia, 

T. F. Beck, Z. Yu, R. Schwartz, M. Dickinson, B. Lee, D. 

A. Scott. 

840F Novel mouse models reveal the role of in the 

development of inner ear phenotypes seen in 1p36 

deletions. H. Zaveri, B. J. Kim, O. A. Shchelochkov, F. A. 

Pereira, A. K. Groves, J. S. Oghalai, M. Justice, B. Lee, D. 

A. Scott. 

841F Xenopus laevis, a model for studying 

the involvement of HDAC6 in a novel form of 

chondrodysplasia. K. Massé, C. Blanchard, D. Simon, 

M. Barillot, P. Helwi, C. Durand, P. Babin, A. Tingaud, P. 

Thiebaud, N. Thézé, D. Lacombe, B. Arveiler. 

842F Genetic interaction between Sox10 and 

b1 integrins during enteric nervous system 

development. Y. Watanabe, F. Bondon-Broders, 

P. Paul-Gilloteaux, B. Prosper, V. Baral, S. Dufour, 

N. Bondurand. 

843F Mowat-Wilson syndrome associated ZEB2 

zinc-finger mutations lead to phenotype-correlated 

impairment of the transcription factor function. 

J. Ghoumid, L. Drévillon, SM. Alavi-Naini, M. Rio, A. 

Briand-Suleau, L. Goodwin, P. Raymond, N. Bondurand, 

C. Yanicostas, M. Goossens, S. Lyonnet, D. Mowat, N. 

Soussi-Yanicostas, J. Amiel, I. Giurgea. 

844F Methylation status of a vault RNA, VTRNA2-1 

(MIR886), is co-segregated with neural tube defects in 

Chinese Han families. W. Li, C. Cai. 

845F A high frequency of genomic disorders in 

patients with congenital kidney malformations. S. 

Sanna-Cherchi, K. Kiryluk, K. E. Burgess, M. Bodria, M. 

G. Sampson, D. Hadley, S. N. Nees, M. Verbitsky, V. J. 

Lozanovski, A. Materna-Kiryluk, B. J. Perry, N. Ristoska- 

Bojkovska, M. Zaniew, H. Flogelova, K. Drnasin, V. Goj, 

R. P. Lifton, L. N. Clark, M. Saraga, A. F. Dominiczak, L. 

Gesualdo, Z. Gucev, L. Allegri, A. Latos-Bielenska, D. 

Cusi, F. Scolari, V. Tasic, H. Hakonarson, G. M. Ghiggeri, 

A. G. Gharavi. 

846F Genome-wide screening and proteome analysis 

of developing mice diastema region. J. Y. Kim, W. J. 

Sohn, Y. M. Chae, Y. J. Jin, B. J. Han, Y. K. Lee, J. K. Jung, 

S. H. Kim, M. O. Kim, J. Y. Suh, S. Lee. 

847F Foxl2, as Sox9, is involved in skeletal 

development through its role in cartilage maturation 

and bone mineralization. L. Marcia, A. Puddu, M. Lovicu, 

R. Piras, D. Schlessinger, A. Forabosco, M. Uda, L. 

Crisponi, M. Marongiu. 

848F Expression and functional analysis of MMACHC 

during mammalian development. M. Moreno-Garcia, M. 

Pupavac, D. S. Rosenblatt, L. A. Jerome-Majewska. 

849F Three novel human VANGL1 gene mutations in 

144 Slovakian, Romanian and German patients with 

neural tube defects. O. Bartsch, I. Kirmes, A. Thiede, S. 

Lechno, H. Gocan, I. S. Florian, T. Haaf, U. Zechner, L. 

Sabova, F. Horn. 

850F Identification of a new ENU-induced mouse 

model for neural tube defects. S. Lachance, M. C. 

Guyot, M. Justice, Z. Kibar. 

851F Involvement of sperm microRNAs in unidentified 

male factor infertility. M. G. Katz-Jaffe, B. R. McCallie, J. 

Stevens, W. B. Schoolcraft. 

852F Comparison of the osteogenic potential of adult 

stem cells from different sources. R. Fanganiello, F. 

A. A. Ishiy, L. P. Capelo, M. Aguena, D. F. Bueno, B. V. P. 

Almada, M. T. Martins, M. R. Passos-Bueno. 

853F The NINDS repository’s publicly accessible 

collections of highly characterized induced pluripotent 

stem cells and primary fibroblasts. C. Tarn, K. Fecenko- 

Tacka, M. O’Rourke, K. Panckeri, C. Rhoda, S. Heil, K. 

Hodges, M. Sutherland, R. Corriveau, M. Self. 

854F Deciphering the Hmx1 pathway in the mouse 

retina. A. Boulling, D. F. Schorderet. 


Cytogenetics 

855W Evaluation of vitamin B12 effects on DNA 

damage induced by paclitaxel. O. Khabour, K. Alzoubi, 

M. Khader. 

856T Evaluation of vitamin B12 effects on DNA damage 

induced by pioglitazone. K. Alzoubi, O. Khabour, N. 

Hussain, S. Al-azzam, N. Mhaidat. 

857W Cytogenetic study of induced pluripotent 

stem cells derived from senescent cells of elderly 

persons. F. Pellestor, L. Lapasset, F. Becker, J. 

Puechberty, A. Schneider, S. Taviaux, P. Sarda, J. M. 

Lemaitre, G. Lefort. 

858T Secondary aneuploidy in samples of balanced 

chromosomal rearrangements: No increased rate 

detected. O. Reish, R. Amiran, A. Kanesky, S. Gerafi, M. 

Mashevich. 

859W Telomere “loss” in people with Down syndrome 

with and without mild cognitive impairment more than 

doubles after T-lymphocytes have been frozen in liquid 

nitrogen and short-term cultured with PHA. E. Jenkins, 

L. Ye, S. Krinsky-McHale, W. Zigman, N. Schupf, W. 

Silverman. 

860T Study of aging consequences in human 

mesenchymal stem cells during tandem passages. H. 

Pour-Jafari, B. Pourjafari, F. Talebzadeh, A.R. Zamani, M. 

Hosseinipanah, H. Fazli. 

861W Telomere structure and function in Cornelia 

de Lange syndrome preserved despite evidence 

for premature aging. A. D. Kline, H. Riethman, K. 

Ravichandran, M. Kaur, A. Kimball, I. D. Krantz. 

862T Identifying genes associated with hearing loss 

through chromosomal translocations. B. B. Currall, 

N. G. Robertson, A. M. Lindgren, M. E. Talkowski, C. C. 

Morton. 

863W An unbalanced whole-arm translocation 

der(1;13)(q10;q10) in Burkitt lymphoma. Y. Seok, S. J. 

Park, S. J. Kim, E. Y. Lee, J. R. Choi. 

864T Two sibs with trisomy 2q 34-qter. Y. Wang, X. He, 

Y. Zhou, C. Wang, X. Yang, L. Zhu, Y. Yang, H. Wu, X. Liu, 

D. Shrestha, C. Lee, E. Carter, J. Martinez. 

865W Subtelomere sequences on human acrocentric 

chromosome short arms. S. Baaj, A. Clarke, P. 

Thakkar, E. Chan, M. Khan, S. Chawla, J. Leya, 

J. Doering. 

866T Multiple chromosomal losses and gain including 

the deletion of 12p13 region defined by cytogenetic 

microarray in a case of simultaneous T-cell 

prolymphocytic leukemia and renal cell carcinoma. J. 

Kim, J. Moon, M. Nam, J. Kim, S. Yoon. 

867W A case of therapy-related acute myeloid 

leukemia with t(19;21)(q13.4;q22). M. Nam, J. Moon, J. 

Kim, J. Kim, S. Yoon. 


868T Detection of donor cells with a clonal 

abnormality 20 years after transplantation: Is this 

evidence of donor cell leukemia? G. Velagaleti, V. 

Ortega, D. Means. 

869W Xp22.31 duplications: Indistinctly benign or 

inconspicuously pathogenic? E. D. Esplin, B. Li, V. Cox, 

R. Clark, C. Curry, A. Slavotinek, L. Hudgins. 

870T Refining the critical region associated with 

Jacobsen syndrome through the identification of a 

small interstitial deletion at 11q23.4-q24.1 by CGH 

array. S. Raskin, H. Salomão, F. R. Faucz, A. Bonalumi, J. 

Souza, P. Grossfeld, J. Rosenfeld, V. S. Sotomaior. 

871W Triploid-diploid mixoploidy presenting with 

gastrointestinal complaints and growth failure. F. I. 

Bhamani, G. L. Elsner, M. B. Beg, R. R. Lebel. 

872T Trisomy 14 mosaicism in a girl: Clinical 

cytogenetic and molecular analysis. R. Cruz-Alcivar, E. 

Lieberman, C. Salas, M. P. Navarrete Meneses, C. Cantú, 

K. Buiting, C. Durán-McKinster, V. Del Castillo-Ruiz, P. 

Pérez-Vera, Alcivar. 

873W Low Klinefelter mosaicism in a male with 

azoospermia detected by FISH. P. A. Delgado, B. 

Crandall, N. Rao, P. Bui, C. A. Tirado. 

874T A balanced translocation t(2;16)(q35;q24.1) 

associated with limb defects and craniofacial 

dysmorphism through presumptive misregulation of 

the IHH (Indian hedgehog) gene. A. C. S. Fonseca, S. 

Antonini, A. Bonaldi, P. A. Otto, A. M. Vianna-Morgante. 

875W Detection of parental origin and meiotic error 

type in abortions and born alive with aneuploidies. S. 

Frias, S. P. Mendoza-Constantino, S. Sánchez, L. Torres, 

B. Molina, P. Grether, D. G. Mayén, R. Meléndez, E. 

Yokoyama, C. Villarroel, E. Lieberman, V. del Castillo. 

876T Non-mosaic trisomy 9: A new case report. T. 

Greer, B. Powell, N. Hauser, J. Shen, L. Mahon, R. Owen, 

T. Sahoo, A. Anguiano, F. Boyar. 

877W A unique phenotype of 2q24.3-2q32.1 

duplication: Infantile-onset epilepsy without mesomelic 

dysplasia. B. Lim, J. Ko, J. Choi, M. Woo, J. Chae. 

878T Importance of chromosome breakage testing 

in Fanconi’s anemia: Involvement of specific 

chromosomes. V. Mohan, G. Archana, T. Preethi. 

879W Collaborative multicenter cytogenetic study of 

microdeletion syndromes: Brazilian Network. M. Riegel, 

N. Barcellos, R. Mergener, R. Gus, R. Giugliani, Brazilian 

Network Members. 

880T Iidentification of chromosome aberration 

in fragile X syndrome patients in Tamil Nadu 

population South India using cytogenetic techniques. 

A. Sundramoorthy. 


POSTER SESSIONS


881W A defect in the TUSC3 gene is associated 

with syndromic intellectual disability. A. Battaglia, L. 

Bernardini, S. Loddo, V. Doccini, V. Parisi, A. Novelli, T. 

Filippi. 

882T An apparently balanced translocation t(5;6) 

(q35.2;p22.3) disrupting the CDKAL1 gene in a girl with 

clinical features of Silver-Russell syndrome. A. Bonaldi, 

S. A. S. Fonseca, A. C. S. Fonseca, A. M. Vianna- 

Morgante. 

883W Report of the first case of robertsonian 

translocation in Down-Turner mosaicism (mos 45, X / 

46,XX, 1 21, rob (21;21)(q10;q10)) with clinical evolution. 

M. F. Carvalho, E. F. Carvalho, K. M. Carvalho. 

884T Copy number variation in imprinted regions: 

Narrowing critical imprinted intervals. B. C. Ballif, N. J. 

Neill, J. E. Fox, M. Descartes, F. Brewer, T. Stroud, J. B. 

Ravnan, L. G. Shaffer, J. A. Rosenfeld. 

885W Detection of partial tetrasomy 12pter-12p11.22 

region by array CGH and FISH in a newborn with 

multiple congenital abnormality. S. Ebrahim, D. 

Stockton, A. M. Jay, M. Hankerd, D. Schloff, M. Kristofice, 

A. N. Mohamed. 

886T Duplication Xq28 and deletion of SHOX in a family 

with short stature, intellectual and developmental 

disability. E. F. Andersen, E. E. Baldwin, S. Ellingwood, R. 

Smith, A. N. Lamb. 

887W Deafness and infertility syndrome: An underdiagnosed 

cause of hearing loss? U. Aypar, N. 

Hoppman-Chaney, D. Babovic-Vuksanovic. 

888T Identification of 90 first-reported abnormal 

chromosome karyotypes in population of Eastern 

China with G-band and/or C-band banding techniques. 

L. Li, S. Zheng, J. Zhang, W. Fan. 

889W Genotype-phenotype correlation in individuals 

with MEF2C mutations and/or 5q14.3-q15 deletion 

syndrome. E. Pallesi-Pocachard, J. Andrieux, A.-M. 

Bisgaard Pedersen, A. Carabalona, R. Steensbjerre Moller, 

P.-H. Kaad, E. Parrini, D. Heron, B. Keren, B. Benyahia, 

M. Walsh, N. Sobreira, D. Batista, V. Malan, A. Represa, T. 

Wang, R. Guerrini, M. Kirchhoff, C. Cardoso, M. Holder- 

Espinasse. 

890T Full-blown expression of paternally inherited 

Fabry disease in a young woman due to complete 

skewed X-inactivation of a der(X)t(X;Y)(p22.13;p11.2) 

mat.ishYp11.3(SRY1). F. Vialard, K. Benistan, C. Beldjord, 

S. Heide, D. Molina-Gomes, F. Jabbour, P. De Mazancourt, 

D. P. Germain. 

891W Whole-genome array-CGH screening in patients 

with autosomal dominant sensorineural hearing loss 

points to novel susceptibility loci. E. L. Freitas, D. T. 

Uehara, V. G. L. Dantas, A. G. Silva, A. C. Krepischi, R. C. 

Mingroni-Netto, C. Rosenberg. 

892T Comparison of HER2/neu gene amplification 

assessment by fluorescent in situ hybridization and 

immunohistochemistry in Iranian breast cancer 

patients. M. Moradi Chaleshtori, Z. Hojati, H. Teimori, S. 

H. Ramazi. 

893W Array CGH of normal karyotype plasma cell 

neoplasms reveals hidden recurrent and individual 

genomic copy number alternations. G. Tang, H. Zhang, 

C. Shaw, P. Hixson, W. Bi, C. Borgan, M. Coyle, D. 

Freppon, D. Vo, J. O’Hare, J. Gonzalez Berjon, C. Chang, 

S. Cheung, A. Patel. 

894T Interstitial duplication/triplication 20q13.2: 

Clinical, cytogenetical and genetical characterization. 

A. Briand-Suleau, J. Martinovic, L. Tosca, B. Tou, S. 

Brisset, J. Bouligand, V. Delattre, I. Giurgea, C. Goumy, 

C. Francannet, A. Guiochon-Mantel, A. Benachi, J. 

Vermeesch, G. Tachdjian, P. Vago, M. Goossens, C. Métay. 

895W Array-based copy-number analysis in patients 

associating obesity and developmental delay/learning 

disabilities and additional features. C. D’Angelo, I. Kohl, 

C. de Castro, C. Kim, D. R. Bertola, C. Lourenço, A.-B. 

Perez, C. Koiffmann. 

896T Complex genomic reorganization in 

microdeletions/microduplications syndromes and 

molecular mechanisms for formation. L. Kulikowski, 

F. Piazzon, E. Zanardo, R. Dutra, A. Dias, M. Oliveira, 

M. Moreira, G. Novo-Filho, M. Basso, C. Negretto, A. 

Zandoná, M. Melaragno, C. Kim. 

897W Gene mapping in the Finnish national collection 

of balanced translocations and inversions. T. M. 

Luukkonen, M. Pöyhönen, P. Ellonen, S. Lagström, J. H. 

Lee, K. O. J. Simola, K. Aittomäki, J. Ignatius, R. Salonen, 

A. Palotie, J. D. Terwilliger, T. Varilo. 

898T Combined exon array CGH plus SNP genome 

analyses for optimized clinical diagnostics. A. Patel, W. 

Bi, C. Shaw, S.-H. Kang, A. N. Pursley, S. Lalani, P. Hixson, 

T. Gambin, A. C-H. Tsai, H.-G. Bock, M. Descartes, F. 

Probst, F. Sacaglia, A. L. Beaudet, J. R. Lupski, C. Eng, S. 

W. Cheung, C. Bacino, J. Wiszniewska. 

899W Facing current diagnostic challenges in 

array copy number analysis. F. B. Piazzon, R. Dutra, 

E. Zanardo, A. Dias, M. Moreira, G. Novo-Filho, D. 

Christofolini, V. Meloni, M. Oliveira, A. Zandoná-Teixeira, 

M. Basso, C. Negretto, C. Moreira-Filho, M. Melaragno, C. 

Kim, L. Kulikowski. 

900T Genetic analyses of Korean patients with 

unexplained mental retardation and developmental 

delay using the multiple ligation-dependent probe 

amplification. S. Shim, S. Sung, S. Park, K. Kang, M. Lee, 

S. Lyu, D. Cha, M. Kim. 

901W Complex nature of apparently balanced 

chromosomal rearrangements in patients with autism 

spectrum disorder. A. C. Tabet, A. Verloes, M. Pilorge, B. 

Benzacken, C. Betancur. 

902T The identification of submicroscopic gains and 

losses at the breakpoints of apparently balanced 

rearrangements. B. Torchia, J. A. Rosenfeld, L. G. Shaffer. 


903W Complex phenotype associated with 17q21.31 

microdeletion. A. Pic-Taylor, H. Dornelles-Wawruk, C. 

Rosenberg, A. C. Krepischi, H. P. N. Safatle, I. Ferrari, J. 

F. Mazzeu. 

904T Association of a deletion downstream of NKX2-1 

with benign hereditary chorea: Transfer of a benign 

CNV to likely pathogenic category. U. Surti, J. Liao, K. 

Coffman, J. Hu, M. Sathanoori, S. Yatsenko, S. Madan- 

Khetarpal, M. McGuire, A. Rajkovic. 

905W Chromosomal microarray analysis in 22q11.2 

deletion syndrome: New insight to LCR-mediated 

rearrangement. A. Tsai, D. Klepacka, M. Dodge. 

906T Array CGH as a first line diagnostic test in place 

of karyotyping for postnatal referrals: Results from 

four years clinical application for over 7,800 patients. 

J. W. Ahn, S. Bint, A. Bergbaum, K. Mann, R. P. Hall, C. 

Mackie Ogilvie. 

907W Identification of the critical region for 7q32q34 

deletion syndrome in a 1.5 Mb region at 7q32.3q33. T.- 

J. Chen, J. Hoffman, K. Phelan, H. C. Andersson. 

908T Clinical implementation of whole-genome array 

CGH in Korean patients with pediatric neurologic 

diseases and multiple congenital anomalies. E. Shin, K. 

Lee, B. Eun. 

909W Chromosome and segmental imbalances 

detected by array CGH in samples of product of 

conception: a pilot study. S. Xu, X. Wang, W. Xu, F. 

Gong, J. Lee, X. Lu, S. Li. 

910T Hemophilia A and trigonocephaly in a male with 

a complex chromosome rearrangement involving 

chromosomes X and 1. J. Liu, J. Chernos, R. Lamont, R. 

Perrier, B. Argiropoulos. 

911W Identification of cryptic genomic imbalance 

in congenital and development abnormalities: An 

institutional experience. F. J. Sheth, J. Andrieux, M. 

Desai, J. Sheth, T. Mampilly, G. Mampilly, C. Neeradha, J. 

Vijayalakshmy, K. Godbole, S. Desai. 

912T Lack of evidence for biparental inheritance of 

copy number variation contributing to pathogenic 

features in a series of clinical microarray cases. C. 

E. Cottrell, S. Kulkarni, H. Al-Kateb, M. Evenson, S. 

Anderson, D. Lamb Thrush, S. Hashimoto, A. K. Bailes, L. 

Erdman, A. McKinney, C. Weber, J. Weslow-Schmidt, S. 

Ramsey, C. Astbury, S. Reshmi, J. M. Gastier-Foster, R. 

E. Pyatt. 

913W 7q33 Deletion in a family with intellectual 

disability, dysmorphic features and behavioral 

changes. A. Fortuna, F. Lopes, S. Sousa, J. Silva, C. 

Gomes, P. Maciel. 

914T Investigation of the parental origin and genomic 

mechanisms involved in de novo pathogenic CNVs in 

congenital disorders. S. Hayashi, M. Naganawa, D. T. 

Uehara, J. Inazawa. 


915W Our experience of clinical implementation 

of whole-genome array CGH as a first-line test in 

postnatal cases. V. Malan, J.-M. Lapierrre, M.-C. de 

Blois, C. Ozilou, S. Nusbaum, O. Raoul, M. Le Merrer, 

A. Harroche, R. Caumes, G. Baujat, F. Cartault, M. Rio, 

J. Amiel, S. Lyonnet, V. Cormier-Daire, A. Munnich, M. 

Vekemans, S. Romana. 

916T Copy number variation in hereditary colorectal 

cancer. A. L. Martin, B. A. Talseth-Palmer, D. M. Grice, 

G. N. Hannan, R. J. Scott. 

917W Using macrocephaly as a quantitative 

endophenotype in autism patients to enhance the 

identification of novel candidate genes. J. Reiner, D. 

Moreno-De-Luca, E. B. Kaminsky, D. H. Ledbetter, C. L. 

Martin. 

918T Study of genomic changes in children with 

intellectual and developmental disabilities using 

chromosomal microarray. P. Sharma, N. Gupta, M. R. 

Chowdhury, R. Shukla, M. Ghosh, M. Kabra. 

919W Association of rare copy number variations and 

risk for Alzheimer’s disease. D. Villela, D. Schlesinger, C. 

K. Suemoto, L. T. Grinberg, A. C. Krepischi, C. Rosenberg. 

920T Coronary artery disease genomics: CNV findings 

in the group of patients from Lithuania. V. Kucinskas, I. 

Pepalyte˙, A. Pranculis, l. Bagdonaite, V. Dzenkeviciute, Z. 

Kucinskiene. 

921W An unbalanced translocation causing a 21q11.2 

deletion in an infertile male. I. Holm, K. Eiklid, C. Hauge, 

V. Rønning, H. Wold. 

922T Single cell copy number profiling in a 24-hour 

workflow with oligo aCGH. P. Costa, S. Fulmer-Smentek, 

A. De Witte. 

923W Four new polymorphic CNVs in cohort of 

100 Bulgarian patients with intellectual disability/ 

congenital malformations and autism. S. P. 

Hadjidekova, D. M. Avdjieva-Tzavella, B. B. Rukova, D. V. 

Nesheva, R. S. Tincheva, D. I. Toncheva. 

924T First detection of clonal trisomy 4 cells from 3 

cases of ossifying renal tumor of infancy. J. Liu, M. 

Guzman, B. Pawel, D. Pezanowski, J. Roth, G. Halligan, J. 

de Chadarévian1. 

925W 17p13.3 Microduplication syndrome: Report 

of additional findings. L. Mutesa, E. Chabchoub, J.- 

H. Caberg, A.-C. Hellin, M. Jamar, H. Peeters, G. van 

Buggenhout, G. Pierquin, J. Andrieux. 

926T Chromosome aberrations among 4617 

chromosomal studies at a pediatric Mexican hospital 

in 19-year period of time. J. M. Aparicio, M. L. Hurtado, 

M. P. Barrientos, W. B. San Martin, A. F. Nuñez, R. G. Ruiz, 

H. T. Gomez, S. P. Rodriguez, R. M. Zamudio, F. L. Cuellar, 

M. A. Cubillo, F. P. Sierra, M. G. Palma, H. O. Chavez, S. 

M. Chatelain. 

927W Study of sodium pertechnetate on bone marrow 


POSTER SESSIONS


cells of mice, in vivo: Micronucleus assay. I. Aranha. 

928T Cryptic translocactions of acrocentrics 

chromosomes in normal couples and couples with 

aneuploid miscarriages. S. Ramos, O. Castro, B. Molina, 

M. Angeles, P. Grether, D. Mayen, S. Frias. 

929W A comparative cytogenetic resolution analysis 

between classic chromosome aberrations and 

cytokinesis-block micronucleus cytome assay. 

R. Saraswathy. 

930T In vitro assessment of genotoxicity and 

cytotoxicity of methyl mercury chloride. S. Tayel, M. 

Naim Bushra, A. Abd Ruboh, S. Hilal, A. El Agwany. 

931W The deletion 5q in myelodysplasia: Correlation 

of cytogenetic, peripheral blood and bone marrow 

findings. V. M. Srivastava, S. Yuvarani, U. Sitaram, A. 

Nancy, R. Ahmed, A. Abraham, A. Vishwabandya, B. 

George, V. Mathews, A. Srivastava. 

932T The quality of the bone marrow sample for 

successful conventional cytogenetic analysis is 

important. E. Tegg, E. Raik. 

933W Parental interstitial translocation underlie 

deletion in Langer-Giedion syndrome. B. Min, M. Seo, T. 

Cho, W. Park. 

934T Concurrent deletions and duplications at 1p36. M. 

Gajecka, J. Karolak, J. Shen, C. Glotzbach, L. G. Shaffer. 

935W Multiple structural abnormalities involving 4q33 

in a spontaneous abortion. M. B. Sheridan, C. Wigner, D. 

A. S. Batista, K. Turner, C. DeScipio. 

936T When transmission modifies the complexity of 

familial chromosome rearrangements. V. Gatinois, G. 

Lefort, C. Coubes, J. Puechberty, A. Schneider, S. Taviaux, 

M. Tournaire, M. Di Nicola, M. Girard, P. Sarda, F. Pellestor. 

937W Evidence of a trisomy 9 rescue event in amniotic 

fluid. L. E. Northrop, M. J. Macera, V. Johbanputra, B. 

Levy. 

938T Large-scale sequence analysis of translocation 

breakpoint junctions. B. Weckselblatt, M. K. Rudd. 

939W Analysis of the nucleotide sequence diversity 

within the SUZ12 gene and its pseudogene SUZ12P 

as a means to investigate the signature of nonallelic 

homologous gene conversion. T. Mussotter, J. Vogt, K. 

Bengesser, J. Högel, D. N. Cooper, H. Kehrer-Sawatzki. 

940T An examination of the origin of the excess of 

males liveborn with trisomy 21. C. Walker, S. Gandy, 

J. Jones, A. Harden, T. Naluai-Cecchini, E. Cheng, S. 

Sherman, T. Oliver. 

941W Down - Turner mosaicism. L. Martelli, C. G. 

Picanço, C. H. P. Grangeiro, C. S. Pereira, R. M. Scaparo, 

S. A. Santos, J. Huber, E. S. Ramos. 

942T Accurate, precise, and tunable cytogenetics with 

next-generation sequencing. M. A. Eberle, T. Royce, F. 

Kaper, J. Cottrell, J.-B. Fan. 

943W Two new cases of interstitial 6q deletion, 

associated to microcephaly, corpus callosum 

hypoplasia and further brain and cerebellar 

malformations. V. Parisi, S. Loddo, L. Travaglini, A. 

Ferraris, G. Vitiello, G. Zanni, L. Bernardini, M. L. Di 

Sabato, M. C. Digilio, A. Novelli, E. Del Giudice, A. Rossi, 

E. Bertini, B. Dallapiccola, E. M. Valente. 

944T Ring chromosome 13: An eventual risk for 

intellectual disability, surdity, congenital malformations 

and leukemia. I. Ben-Abdallah-Bouhjar, H. Hannachi, S. 

Mougou-Zerelli, H. Ben-Khelifa, A. Labalme, D. Sanlaville, 

H. Elghezal, A. Saad. 

945W Use of oligo-SNP array for the detection of 

abnormalities in CLL. N. C. Christacos, M. L. Slovak, M. 

A. Sanidad, Y. Hsu, J. C. Kelly, P. N. Mowrey, D. M. Jones. 

946T Array-based comparative genomic hybridization 

identifies unique copy number alterations in diffuse 

large B-cell lymphoma subtypes: A review of published 

microarray data. R. Garcia. 

947W Subtype of ETV6/ABL1 fusion transcript is 

associated with different leukemia phenotype. A. Kwon, 

J. Park, J. Lim, Y. Kim, K. Han, S. Lee, H. Kim, W. Min, J. 

Kim, M. Kim. 

948T Detecting chromosomal inversions using chromatid 

painting strategies: Applications. F. A. Ray, E. Zimmerman, 

M. N. Cornforth, E. H. Goodwin, J. S. Bedford, S. M. Bailey. 

949W Efficacy and implementation of a SNP 

microarray for the evaluation of patients with multiple 

myeloma. S. Schwartz, R. D. Burnside, J. McElligott, I. 

Gadi, J. Kesler, V. Jaswaney, K. Phillips, J. Tepperberg, B. 

Williford, P. Papenhausen. 

950T A de novo intragenic deletion of AUST2 in a 

patient with autism spectrum disorder. S. Kantarci, I. E. 

Amarillo, J. David, E. Vilain, X. Li. 

951W 22 q 11.2 Syndrome in a group of patients who 

attended Operation Smile Foundation in Colombia, 

between 2005 and 2012. I. Briceno, J. C. Martinez, A. 

Venegas, O. Moreno, M. Sarmiento, S. Bohorquez, M. 

Montiel, A. Patino. 

952T Incidence of mosaicism detected by exontargeted, 

high-resolution array comparative genomic 

hybridization in 10,362 consecutive cases with special 

emphasis on detection of complex unbalanced structural 

rearrangements. W. Bi, J. Pham, C. Shaw, P. Hixson, A. 

Ester, A. Pursley, K. Plunkett, P. L. Magoulas, S.-H. L. Kang, S. 

R. Lalani, C. Bacino, P. Stankiewicz, A. Patel, S. W. Cheung. 

953W A cryptic derivative chromosome 12 detected by 

oligo-SNP array. Z. Dai, N. C. Christacos, S. Schonberg, 

J. Kelly, E. Wallenhorst, K. Sullivan, C. Adams, Y. Hsu, H. 

Walker, T. Simanivanh, P. Mowrey. 


954T GLUT1 deficiency and chromosome microarray 

analysis. A. J. Dawson, A. Mhanni, F. Booth, D. Bernier, M. 

Tomiuk, J. Hartley, M. Strecker, K. Hovanes. 

955W Clinically relevant mosaic findings in a total of 

9,605 patients and parents by using genome-wide 

high resolution SNP array analysis in constitutional 

diagnosis. N. de Leeuw, J. Y. Hehir-Kwa, B. H. W. Faas, 

T. K. Rinne, M. J. E. Kempers, S. A. de Munnik, N. F. 

A. Leijsten, G. C. Machielsen, S. L. J. van Gessel, M. 

Wunderink, M. J. G. Banning, R. van Beek, M. del Rosario, 

B. B. A. de Vries, D. F. C. M. Smeets, R. Pfundt. 

956T Genomic differences between spontaneously 

aborted fetuses and live-born children with 45,X 

monosomy. J. Domínguez Ortiz, L. Torres, S. Sanchez, V. 

del Castillo, L. Orosco, A. Carnevale, P. Grether, D. Mayen, 

S. Frias. 

957W Characterization of a rare 16.25 Mb duplication 

of Xp21.2p22.2. M. J. Macera, E. Bornstein, V. Aggarwal, 

L. Northrop, M. Shirazi, A. Sorbrino, B. Levy, D. Warburton, 

V. Jobanputra. 

958T Single nucleotide polymorphism-based 

microarray comparison for detection of constitutional 

copy number variation and absence of heterozygosity. 

H. Mei, S. A. Scott, H. M. Kearney, D. del Gaudio, J. D. 

Weisfeld-Adams, M. P. Wasserstein, S. Das, N. Cohen, L. 

Edelmann. 

959W Atypical copy number abnormalities in patients 

with suggestive phenotype of 22q11.2 deletion 

syndrome. M. C. Molck, T. P. Vieira, I. C. Sgardioli, M. 

Simioni, A. C. Xavier, J. Souza, V. L. Gil-da-Silva-Lopes. 

960T Mosaicism in live born and spontaneous 

abortions with trisomy 13, 18, 21 and monosomy X. 

S. Sánchez, P. Grether, D. G. Mayén, B. Molina, M. J. 

Zavaleta, J. Domínguez, R. Meléndez, S. Frias. 

961W Array-CGH analysis in patients with Goldenhar 

syndrome. P. A. C. Santos, E. L. Freitas, H. P. N. Safatle, 

C. Rosenberg, I. Ferrari, S. F. Oliveira, J. F. Mazzeu. 

962T Complex rearrangements involving five 

chromosomes and at least fourteen breaks. J. Wang, B. 

Huang, R. Habibian, A. Hajianpour. 

963W Trisomy Xp and partial tetrasomy Xq resulted 

from gain of a rearranged X chromosome in a female 

fetus: Pathogenic or not? M. Yiu, Z. Qi, A. Ki, K. 

Hashimoto, M. Ernster, J. Yu. 

964T A de novo 0.24-Mb microdeletion of 16q24.3 

encompassing ANKRD11 in a patient with KBG 

syndrome. H.-J. Cho, E.-J. Seo, J.-H. Lim, J.-O. Lee, H.- 

W. Yoo, C. K. Cheon. 

965W The evaluation of subtelomeric fluorescent 

in situ hybridization analysis of idiopathic mental 

retardation / multiple congenital anomaly cases. B. 

Durmaz, E. Karaca, A. Durmaz, T. Atik, H. Akin, O. Cogulu, 

F. Ozkinay. 


966T Mechanism-based analysis of human cell lines of 

Prader-Willi syndrome. Z. Tang, D. Berlin, M. Wineburg, 

A. MacMillan, D. Altamuro, L. Toji, C. Beiswanger, S. 

Madore, N. Gerry. 

967W A child with Pitt-Hopkins syndrome and maternal 

somatic mosaicism at 18q21.2. K. Doudney, V. Bickley, 

M. Robertson, J. Watt, J. Taylor, A. Kidd, P. George. 

968T Microarray benefits diagnostic pregnancy loss 

studies. D. L. Pickering, B. J. Dave, D. M. Golden, A. A. 

Haggerty, D. L. Bishay, R. L. Smith, S. A. Fisher, W. G. 

Sanger. 

969W Method comparison study of the Illumina 

InfiniumDx CytoSNP-12 assay for the detection of 

chromosomal abnormalities in DNA extracted from 

peripheral blood. M. Porter, R. Golshani, J. Fabian, M. 

Harris. 

970T A CML case with normal karyotype and positive 

BCR/ABL1 fusion. C. A. Tirado, J. W. Boles, J. Ochoa, 

R. Collins. 

971W Computational methods for detecting wholegenome 

triploid samples with Agilent CGH1SNP 

arrays. A. Vadapalli, B. J. Peter, A. Ashutosh, J. Ghosh, 

B. Curry, A. Rajkovic, U. Surti, S. A. Yatsenko. 

972T Genome-wide resolution study of CNV 

detection by the CytoScan® HD Cytogenetics 

Array through a large-scale experiment. Y. S. Wang, 

A. H. Roter. 

973W A new case of inverted duplication with 

terminal deletion of chromosome 12p characterized 

by FISH and SNP array analysis. E. Pipiras, 

B. Jeandidier, S. Chantot-Bastaraud, B. Benzacken, 

A. Delahaye. 

974T GISH analysis of genome discrimination in two 

interspecific hybrid of sweet potato. Z. Li. 

975W Latest innovations in oligo FISH enable high 

resolution detection of chromosomal aberrations. 

M. Ruvolo, V. Kulkarni, B. Mullinax, A. Bergstrom Lucas, 

P. Tsang, N. Faravashi, A. De Witte, M. Srinivasan, 

E. LeProust, S. Fulmer-Smentek. 

976T Deletion 2q24.1q24.2 in a boy with 

generalized hypotonia and developmental delay: 

Further delineation. V. del Castillo, E. Yokoyama, 

C. Villarroel, J. L. Castrillo, S. Avila, S. Sánchez, B. Molina, 

S. Frías. 

977W SNP arrays provide incremental, clinically 

significant information for patients undergoing 

chromosome microarray testing. V. Aggarwal, 

O. Nahum, B. Marmol, K. Anayane-Yeboa, B. Levy. 

978T Non-mosaic duplication of chromosome 

6p in a child, inherited from his mother 

with a mosaic unbalanced der(14)t(6;14) 

(6pter➞6p22.3::14p13➞14qter). S. M. Bain, J. K. 

Nicholl, W. Waters, A. H. Attwood, J. Samuel, T. A. 


POSTER SESSIONS


Hocking, S. G. Brown, E. A. Haan, S. Yu. 

979W Diagnostic array analysis and the necessity 

of high quality SNP information. R. Pfundt, J. Hehir- 

Kwa, N. Leijsten, S. van Gessel, M. Wunderink, 

T. Machielsen, R. van Beek, M. Banning, M. Rosario, 

N. de Leeuw. 

980T Copy-number variation and UPD(16) mosaicism 

in a patient with apple peel intestinal atresia, ocular 

anomalies, microcephaly and bone-marrow failure. 

F. A. T. de Vries, Y. van Bever, I. M. Appel, H. Kart, L. J. C. 

M. van Zutven, H. B. Beverloo. 

Cancer Genetics 

981W Tumor suppression in Apc Min/1 mice by the 

prostaglandin D 2 receptor PTGDR. H. Lin, A. Kwong, O. 

Lee, V. Buslon, S. French, E. Salido. 

982T Effects of Western-style diet and genetic 

predisposition on the protein expression and cancer 

susceptibility in normal colonic mucosa. S. Lowndes, 

D. Dermadi Bebek, M. Pussila, N. Reyhani, L. Sarantaus, 

M. Nyström. 

983F The Jackson Laboratory Rare and Orphan 

Disease Center. S. Rockwood, C. Lutz, K. Fancher, A. 

Picard, M. Sasner, L. Reinholdt, S. Murray, D. Bergstrom, 

J. Morgan, L. Donahue, GRS Team. 

984W Genetic differences in transcript responses to 

low-dose ionizing radiation identify tissue functions 

associated with breast cancer susceptibility. A. J. 

Wyrobek, F. Marchetti, S. Bhatnagar, N. Duru, J. Han, Z. 

Hu, J.-H. Mao, J. W. Gray, A. M. Snijders. 

985T Association of the HLA-G gene polymorphisms 

with cervical cancer risk. T. Chang, Y. Yang, Y. Lee, T. 

Chen, S. Chang, W. Lin. 

986F Association of the HOXB13 G84E variant with 

familial, sporadic, and aggressive prostate cancer: The 

Mayo Clinic experience. M. S. DeRycke, L. S. Tillmans, 

S. K. McDonnell, S. M. Riska, J. Xu, Y. W. Asmann, D. J. 

Schaid, S. N. Thibodeau, International Consortium for 

Prostate Cancer Genetics. 

987W The miR-29 family of microRNA genes and let-7i 

associate with gastric cancer in European populations: 

Results from the EPIC-EURGAST study. Y. Espinosa- 

Parrilla, X. Muñoz, C. Bonet, N. García, A. Venceslá, E. 

Riboli, C. A. González, N. Sala on behalf of EPIC Gastric 

Cancer Working Group. 

988T 3’UTR variation in PTEN and PTENP1 : 

Implications for microRNA binding. B. G. Hernandez, C. 

LaViolette, T. Begay, J. A. Wilder. 

989F Replacement therapy for lung adenocarcinoma 

risk in never-smoking women. C. Hsiao, K. Chen, G. 

Chang, Y. Tsai, W. Su, Y. Chen, M. Huang, C. Hsiung, C. 

Chen, P. Yang, GELAC Study Group. 

990W Application of molecular diagnostic techniques 

on the study done on phosphatase and tensin 

homologue deleted on chromosome 10 (PTEN). R. Issa. 

991T Validation, fine-mapping, and characterization 

of six genes related to testicular germ cell tumor in a 

large Swedish-Norwegian case-parent, case-control 

sample. R. Karlsson, W. Kristiansen, K. E. Andreassen, 

E. L. Aschim, R. M. Bremnes, O. Dahl, S. D. Fosså, O. 

Klepp, C. W. Langberg, A. Solberg, S. Tretli, P. K. E. 

Magnusson, H.-O. Adami, T. B. Haugen, T. Grotmol, F. 

Wiklund. 

992F Genome-wide germline DNA autosomal copy 

number variation analysis in Finnish BRCA1/2-founder 

mutation-negative hereditary breast and/or ovarian 

cancer individuals. K. M. Kuusisto, O. Akinrinade, M. 

Vihinen, S.-L. Sallinen, J. Schleutker. 

993W Mediator complex subunit 12 (MED12) mutations 

in uterine leiomyosarcomas. M. M. McGuire, M. Jones, 

G. Trucco, U. Surti, R. P. Edwards, A. Rajkovic. 

994T Association of breast cancer risk factors and HLA-G 

gene indel 14bp polimorphyms in a Brazilian population. 

Y. C. N. Muniz, M. Damiani, L. D. Hausmann, B. S. Almeida, 

B. Fernandes, R. T. Simıes, A. R. Marrero, I. R. Souza. 

995F Fine-mapping of prostate cancer susceptibility 

locus 11q13.5. R. Nurminen, R. Lehtonen, T. L. Tammela, 

T. Wahlfors, J. Schleutker. 

996W Role of copy number variants in the nucleotide 

excision repair pathway genes and breast cancer risk in 

Puerto Rican women. A. Pacheco Torres, J. Matta, J. Dutil. 

997T Screening of Finnish RAD51C founder mutations 

in prostate and colorectal cancer patients. L. M. 

Pelttari, R. Nurminen, A. Gylfe, L. Aaltonen, J. Schleutker, 

H. Nevanlinna. 

998F Exome sequencing in a familial testicular germ 

cell tumor kindred. K. A. Schrader, S. Shah, V. Joseph, R. 

Murali, R. Rau-Murthy, K. Sarrel, I. Dolgalev, S. Cheguri, 

C. Manschreck, N. Socci, A. Viale, A. Heguy, G. Bosl, D. 

Feldman, M. Robson, Z. Stadler, K. Offit. 

999W SLX4 mutation in hereditary breast cancer. 

S. Shah, Y. Kim, I. Ostrovnaya, F. Lach, R. Murali, K. 

Schrader, V. Joseph, K. Sarrel, R. Rau-Murthy, N. Hansen, 

S. Cheguri, J. Littman, L. Zhang, K. Offit, A. Smogorzewska. 

1000T Contribution of ARLTS1 to prostate cancer 

susceptibility. S. Siltanen, H. Rauhala, T. L. Tammela, P. 

Kujala, T. Visakorpi, T. Wahlfors, J. Schleutker. 

1001F Meta-analysis of 25 prostate cancer associated 

SNPs in high-risk prostate cancer families: New 

evidence from the International Consortium for 

Prostate Cancer Genetics. C. Teerlink, S. Thibodeau, D. 

Schaid, K. Cooney, E. Lange, C. Maier, J. Stanford, E. A. 

Ostrander, J. Schleutker, G. Cancel-Tassin, O. Cussenot, 

R. Eeles, D. Easton, W. Isaacs, J. Xu, J. Carpten, J. E. 

Bailey-Wilson, F. Wiklund, A. Whittemore, W. Catalona, 

W. Foulkes, N. Camp, L. Cannon-Albright, International 


Consortium for Prostate Cancer Genetics. 

1002W CDH1 mutations in patients with lobular 

carcinoma of the breast. A. L. Valente, S. Rummel, C. D. 

Shriver, R. E. Ellsworth. 

1003T Fine-mapping of breast cancer genome-wide 

association studies loci in women of African ancestry. 

Y. Zheng, T. O. Ogundiran, K. L. Nathanson, E. M. John, 

A. Hennis, S. Ambs, C. Adebamowo, S. M. Domchek, T. 

R. Rebbeck, M. S. Simon, B. Nemesure, S. Y. Wu, M. C. 

Leske, Q. Niu, J. Zhang, E. R. Gamazon, N. J. Cox, O. I. 

Olopade, D. Huo. 

1004F L1 encoded ORF1p facilitates tumorigenesis and 

suppresses nucleus accumulation of Smad-4 in HepG2 

cells. Y. Zhu, F. Feng, X. Gao, J. Yu, M. Hu, F. Zhang, Y. 

Wang, Q. Zhang, Y. Guo. 

1005W Copy number variation analysis in 222 mutation 

negative polyposis patients reveals potential new 

candidate genes. S. Aretz, S. Horpaopan, S. Vogt, 

I. Spier, A. M. Zink, S. Herms, A. Laner, K. Wöllner, S. 

Pasternack, M. Draaken, D. Stienen, S. Uhlhaas, E. 

Holinski-Feder, M. M. Nöthen, P. Hoffmann. 

1006T Evaluation of the RHINO gene for breast cancer 

predisposition in Finnish breast cancer families. 

T. Heikkinen, E. Huovari, S. Vilske, C. Blomqvist, J. 

Schleutker, A. Kallioniemi, K. Aittomäki, H. Nevanlinna. 

1007F A gene-based association approach prioritizes 

candidate susceptible genes for chronic myeloid 

leukemia. J.-H. Park, H.-H. Won, J.-W. Kim, D. H. Kim, 

S.-T. Lee, S. Kim, S.-H. Kim, C. W. Jung. 

1008W Proteomic analysis of gastric cancer from 

individuals of Northern Brazil. M. F. Leal, J. Chung, D. Q. 

Calcagno, P. P. Assumpção, S. Demachki, I. D. C. G. Silva, 

R. Chammas, R. R. Burbano, M. A. C. Smith. 

1009T Fine-mapping of IL-16 gene and prostate cancer 

risk in African Americans. K. Batai, E. Shah, M. Ruden, 

J. Newsome, A. B. Murphy, C. Ahaghotu, R. A. Kittles. 

1010F Fas signaling pathway-based analysis of 

genome-wide data and risk of gastric cancer. P. L. 

Hyland, S.-W. Lin, N. Hu, Z.-Z. Tang, L. Wang, C. Wang, H. 

Su, T. Ding, J.-H. Fan, Y.-L. Qiao, X. Xiong, W. Wheeler, C. 

Griffen, K. Yu, Z. Wang, L. Burdett, S. J. Chanock, S. M. 

Dawsey, M. A. Tucker, N. D. Freedman, A. M. Goldstein, C. 

C. Abnet, P. R. Taylor. 

1011W Fine-mapping identifies multiple prostate 

cancer risk loci at 5p15, one of which associates 

with TERT expression. Z. Kote-Jarai, E. Saunders, 

D. Leongamornlert, M. Tymrakiewicz, T. Dadaev, S. 

Jugurnauth-Little, H. Ross-Adams, A. Al-Olama, S. 

Benlloch, S. Halim, R. Russel, A. Dunning, D. Neal, F. 

Hamdy, J. Donovan, D. Easton, R. Eeles, UK Genetics 

Prostate Cancer Study Collaborators, PRACTICAL 

Consortium. 

1012T Fine mapping of 12q24 shows a promising 

association locus for renal cell carcinoma. J. R. Toro, 


S. Han, M. Yeager, L. Moore, M. Purdue, M. Johansson, 

G. Scelo, V. Gaborieau, C. Berg, R. Grubb, V. Stevens, M. 

Thun, W. Diver, D. Albanes, S. Weinstein, J. Virtamo, L. 

Burdett, A. Brisuda, J. McKay, J. Fraumeni, N. Chartterjee, 

P. Rosenberg, N. Rothman, P. Brennan, W. H. Chow, M. 

Tucker, S. Chanock. 

1013F Array CGH analyses in a patient with multifocal 

recurrent meningioma. Z. Yilmaz Celik, Y. K. Terzi, N. 

Altinors, F. I. Sahin. 

1014W Haplotype-resolved sequencing and structural 

analysis of the HeLa cancer genome. A. C. Adey, J. O. 

Kitzman, J. Burton, J. Shendure. 

1015T Role of somatic mutations in the 

etiopathogenesis of Maffucci syndrome. M. Amyere, 

M. Limaye, N. Mulliken, J. B. Dompmartin, A. Enjorlas, O. 

Kaitila, I. Docquier, P.-L. Godfraind, L. M. Boon, M. Vikkula. 

1016F Association of polymorphisms in NNK 

metabolizing genes and lung cancer risk. J. L. Engle, 

A. K. Hull, G. Liu, A. S. Berg, C. J. Gallagher, P. Lazarus, J. 

E. Muscat. 

1017W Myeloproliferative neoplasms and somatic 

mosaicism in the 23andMe participant community. D. 

A. Hinds, K. E. Barnholt, J. L. Zehnder, A. K. Kiefer, C. B. 

Do, N. Eriksson, J. L. Mountain, U. Francke, J. Y. Tung, R. 

L. Levine, R. A. Mesa, J. R. Gotlib. 

1018T Acute myeloid leukemia associated with 

chromosome 6: Clinical and phenotypical implications 

in two pediatric patients with chromosome trisomy and 

translocation. L. Hurtado-Hernandez, J. M. Aparicio, F. L. 

Cuellar, M. A. L. Cubillo, M. A. H. Garrido, S. M. Chatelain. 

1019F Correlating genetic alterations from array 

comparative genome hybridization and nextgeneration 

sequencing with histology and clinical 

outcome in melanocytic neoplasms. Y. Liu, Y. Zhou, E. 

George. 

1020W Molecular profiling of the therapy-resistant 

clones in the recurrent embryonal carcinomas of 

the testes based upon FISH and NGS of the isolated 

chromosomes. R. Malecki, M. Malecki. 

1021T Detection of large rearrangements in BRCA1 

and BRCA2 by microarray-CGH. D. Mancini-DiNardo, 

T. Judkins, N. Woolstenhulme, C. Burton, S. Chen, J. 

Schoenberger, M. Ryder, A. Murray, M. Balzotti, N. Gutin, 

J. Holladay, J. Craft, C. Colvin, J. Trost, L. A. Burbidge, C. 

Arnell, E. Rosenthal, B. Roa. 

1022F Effect of insecticide exposure in the generation 

of alterations in MLL, a gene associated with acute 

lymphoblastic leukemia. M. P. Navarrete Meneses, 

M. Betancourt, E. Bonilla, M. Altamirano, A. Reyes, 

P. Pérez-Vera. 

1023W Genomic analyses of paired diagnostic/relapse 

childhood acute lymphoblastic leukemias identify 

relapse-associated genetic features of pathogenetic and 

clinical importance. L. Olsson, A. Castor, M. Behrendtz, A. 


POSTER SESSIONS


Biloglav, E. Forestier, K. Paulsson, B. Johansson. 

1024T Loss of chromosomes is the primary event in 

near-haploid and low hypodiploid acute lymphoblastic 

leukemia. S. Safavi, E. Forestier, I. Golovleva, G. Barbany, 

K. H. Nord, A. V. Moorman, C. J. Harrison, B. Johansson, 

K. Paulsson. 

1025F Detection of the t(8;14) chromosomal 

rearrangements in paraffin embedded tissue sections 

of Burkitt lymphoma patients with quantitative 

polymerase chain reaction and fluorescence in situ 

hybridization methods. N. Selvi, M. Hekimgil, B. Tezcanli 

Kaymaz, S. Aktas, N. Ozhan, C. Gunduz, B. Kosova, Y. 

Dodurga, N. Topcuoglu. 

1026W Molecular changes in Lynch syndrome 

associated and sporadic ovarian carcinomas. A. 

Tieva, S. Kaur, L. Renkonen-Sinisalo, H. J. Järvinen, J.-P. 

Mecklin, R. Bützow, P. Peltomäki. 

1027T A comprehensive genetic and epigenetic 

study of hepatocellular carcinoma with microarrays. 

G. Zhang, C. Wu, D. Yu, J. Chang, W. Sun, M. Li, L. Liang, 

Y. Li, D. Lin. 

1028F Congenital leukemia with insertion of MLL into 

19p13.3 and a deletion of half a megabase of 19p13.3: 

Case report. H. Al-Kateb, M. Evenson, S. Kulkarni. 

1029W Cytogenetic profiles of 370 cases with renal cell 

carcinoma: UCLA experience. P. H. Bui, P. N. Rao. 

1030T Identifying of cryptic genomic alterations by 

high-resolution microarrays in LLA-B and LLA-T 

Mexican patients. C. Córdova-Fletes, B. Macias-García, 

A. Lugo-Trampe, N. Mendez-Ramírez, R. De la Rosa- 

Alvarado, H. Gutiérrez-Aguirre, D. Gómez-Almaguer, A. 

Hidalgo, R. Salazar-Riojas, P. Ruíz-Flores, P. Villarreal- 

Quiroga, O. González-Llano, A. Rojas-Martínez, H. 

Decanini-Arcaute, R. Ortiz-López. 

1031F An unusual case of APL in a 14-year-old girl with 

t(15;17)(q22;q21) and t(9;22)(q34;q11.2). V. Jobanputra, 

C. Freeman, S. Hussein, M. J. Macera, B. Levy, V. V. Murty, 

M. L. Sulis, G. Bhagat. 

1032W Integration of cytogenetics and FISH studies 

for accurate evaluation of chromosome abnormalities. 

N. Qin, M. Hibbard. 

1033T Evaluation of FGFR1 gene amplification status 

and its association with clinicopathological features in 

breast cancer. R. M. Rodrigues-Peres, J. K. Heinrich, L. 

O. Z. Sarian. 

1034F Large scale identification of chromosomal 

abnormalities in familial breast and ovarian cancer. H. 

W. H. Yin, L. L. Wang, E. Tsui, Y. Elshimali, D. C. Chen. 

1035W Homozygous deletions of CDKN2A are present 

in all dic(9;20)(p13.2;q11.2)-positive BCP ALLs and 

may be important for leukemic transformation. 

V. Zachariadis, J. Schoumans, G. Barbany, M. Heyman, E. 

Forestier, B. Johansson, M. Nordenskjöld, A. Nordgren. 

1036T C-MYC and IGH amplification in patients with 

intermediate high grade B-cell lymphomas. A. Zaslav, 

M. Bellone, F. Lan, T. Mercado, H. Lee, Y. Hu. 

1037F Two deletions in the APC gene (an inherited 

deletion in exon 1 and a de novo deletion in exon 

12) and a de novo MUTYH deletion causing familial 

adenomatous polyposis. G. A. Molfetta, O. C. Vincenzi, 

J. Huber, A. A. Marques, W. A. Silva, Jr. 

1038W Mutation screening in adenomatous polyposis 

coli gene in patients clinically diagnosed as familial 

adenomatous polyposis. O. C. Vincenzi, G. A. Molfetta, 

J. Huber, C. Ayres, W. A. Silva, Jr. 

1039T High-precision CNV analysis of FFPE samples 

with the nCounter Analysis System. G. Geiss. 

1040F Germline copy number variation in high-risk 

African American families with prostate cancer. E. 

Ledet, X. Hu, O. Sartor, W. Rayford, M. Li, D. Mandal. 

1041W hapLOH: Powerful haplotype-based profiling of 

allelic imbalance in impure tumor samples. P. Scheet, 

R. Xia, S. Vattathil. 

1042T Protein tyrosine phosphatase receptor type J is 

implicated in lymphomagenesis of follicular and diffuse 

large B-cell lymphomas. C. A. Aya-Bonilla, M. R. Green, 

E. Camilleri, M. Benton, C. Keane, P. Marlton, R. Lea, M. K. 

Gandhi, L. R. Griffiths. 

1043F Computational techniques to detect BFB in 

tumor genomes. S. Zakov, M. Kinsella, V. Bafna. 

1044W Evaluation of cytogenetic and gene 

polymorphic variants in workers occupationally 

exposed to silica-stone quarry industry. R. 

Chandirasekar, K. Sasikala, B. Lakshman Kumar, R. 

Raichel Jacob, H. Kavitha. 

1045T Differential expression of AURKA and AURKB 

genes in bone marrow stromal mesenchymal cells of 

myelodisplastic syndrome: Correlation with G-banding 

analysis and FISH. F. M. Oliveira, A. R. Lucena-Araujo, 

M. C. Favarin, E. M. Rego, R. P. Falcão, B. P. Simıes, D. T. 

Covas, A. M. Fontes. 

1046F A new function for the VHL tumor suppressor 

protein: Prevention of genome instability through 

promotion of homologous recombinational DNA repair. 

M. S. Meyn, J. L. Metcalf, P. S. Bradshaw, M. Komosa, S. 

N. Greer, W. Y. Kim, M. Ohh. 

1047W A new role for the ATM protein: Homologous 

recombination repair of DNA damage. P. Bradshaw, M. 

Komosa, M. S. Meyn. 

1048T A crosstalk between ATM and FA/BRCA proteins 

is necessary to preserve DNA integrity during G2/M 

phase. L. C. Torres Maldonado, D. Sosa, M. Castañon, A. 

Rodriguez, B. Molina, C. Lopez Camarillo, S. Frias. 

1049F A dynamic model of the FA/BRCA DNA repair 

pathway. A. Rodriguez, L. Torres, D. Sosa, E. Cortes, A. 


M. Salazar, R. Ortoz, P. Ostrosky, L. Mendoza, S. Frias. 

1050W Fanconi anemia pathway proteins act 

together and independently to regulate homologous 

recombination and synthesis of telomeric DNA in 

ALT-immortalized human cells. H. Root, M. Komosa, A. 

Larsen, D. Bazett-Jones, M. S. Meyn. 

1051T Transcriptome sequencing of tumor 

subpopulations reveals a spectrum of therapeutic 

options in squamous cell lung cancer. C. L. Barrett, 

R. B. Schwab, H. Jung, B. Crain, D. J. Goff, C. H. M. 

Jamieson, P. A. Thistlethwaite, O. Harismendy, D. A. 

Carson, K. A. Frazer. 

1052F A novel bi-allelic MSH2 mutation associated 

with constitutional mismatch repair deficiency 

syndrome, and review of the clinical phenotype. P.-Y. B. 

Au, R. Perrier, E. G. Puffenberger, S. Hume, R. Anderson, 

L. Lafay-Cousin, D. Strother, B. McInnes, J. Parboosingh, 

F. Bernier. 

1053W Clinical and histopathologic characteristics 

between familial and sporadic melanoma in Barcelona, 

Spain. C. Badenas, P. Aguilera, C. Carrera, J. Malvehy, J. 

A. Puig-Butille, E. Martinez-Barrios, J. Palou, S. Puig. 

1054T A survey of stromal responses and their clinical 

associations defined by the fibromatosis signature in 

different types of carcinomas. J. L. Chen, I. Espinosa, A. 

Y. Lin, O. Y. Liao, M. van de Rijn, R. B. West. 

1055F Anticipation in hereditary paraganglioma and 

pheochromocytoma syndromes. H. Druker, D. Malkin, 

S. Meyn. 

1056W Evaluation of mtDNA D-loop polymorphisms 

in Iranian breast cancer patients. M. Ghaffarpour, S. 

Eslamizadeh, M. Arabzadeh, B. Motahari, N. Moazami, M. 

Houshmand. 

1057T Does high HERV-K expression participate 

in acute leukemia pathogenesis in children? 

D. Januszkiewicz-Lewandowska, K. Nowicka, J. 

Rembowska, J. Nowak. 

1058F SMAD4 loss-of-function mutations cause 

wide range of clinical disorders with unpredictable 

age-related penetrance. N. M. Lindor, K. E. Wain, M. S. 

Ellingson, J. McDonald, A. D. Gammon, M. E. Roberts, D. 

L. Riegert-Johnson. 

1059W Automatic endometrial tumor screening for 

Lynch syndrome. M. Myers, P. Conrad, J. Rabban, J. 

Terdiman, K. Loranger, A. Blanco, L. Chen. 

1060T Detection of EGFR mutations by TaqMan® 

Mutation Detection Assays powered by Competitive 

Allele-Specific TaqMan® PCR Technology (castPCR). 

N. Normanno, C. Roma, R. Pasquale, A. M. Rachiglio, 

C. Esposito, F. Fenizia, M. L. La Porta, A. Iannaccone, F. 

Bergantino, S. Costantini, A. Rico, R. Petraroli. 

1061F Germline mutations and microsatellite instability 

status in a population-based study of women with 


ovarian cancer. T. Pal, A. Mohammad, P. Sun, J. Lee, J. 

Fulp, Z. Thompson, A. Doty, D. Coppola, S. Nicosia, T. 

Sellers, J. McLaughlin, H. Risch, B. Rosen, J. Schildkraut, 

S. Narod. 

1062W BRCA2 mutations might be detected at a high 

rate in a subset of cutaneous melanoma patients with 

pancreatic cancer in the familial history. N. Soufir, E. 

Rouleau, C. Derouet, A. Riffault, H. H. Hu, S. Caputo, P. 

Hammel, V. Descamps, N. Basset-Seguin, P. Saiag, A. 

Bensussan, M. Bagot, R. Lidereau, B. Grandchamp. 

1063T SUFU germline mutation in a patient with Gorlin 

syndrome identified by next-generation sequencing. J. 

B. Geigl, E. Heitzer, I. Wolf, L. Cerroni, M. R. Speicher. 

1064F Li-Fraumeni syndrome: A clinical, genetic, and 

epidemiologic cohort study. P. L. Mai, J. A. Peters, L. 

Hoskins, F. Walcott, R. Bremer, S. A. Savage. 

1065W Early detection of cystic pleuropulmonary 

blastoma and cystic nephroma in an asymptomatic 

child with DICER1 mutation—Screening 

considerations. F. Plourde, V. Larouche, N. Ferguson, 

M. St-Amant, I. Harvey, N. Taherian, N. Sabbaghian, J. R. 

Priest, W. D. Foulkes. 

1066T Impact of gynecological screening in Lynch 

syndrome carriers with an MSH2 mutation. S. 

Stuckless, P. Parfrey, L. Dawson, B. Barrett, J. Green. 

1067F Evaluation of mismatch repair gene sequence 

variants in the Colon Cancer Family Registry using 

multifactorial likelihood analysis. B. A. Thompson, D. 

E. Goldgar, M. Clendenning, R. Walters, M. T. Parsons, 

S. Gallinger, R. W. Haile, J. L. Hopper, M. A. Jenkins, 

L. LeMarchand, N. M. Lindor, P. A. Newcomb, S. N. 

Thibodeau, J. P. Young, D. D. Buchanan, S. V. Tavtigian, A. 

B. Spurdle, Colon Cancer Family Registry. 

1068W Development of a custom targeted AmpliSeq 

multiplex sequencing assay for the detection of tumorderived 

somatic mutations and application as part 

of a clinical trial. C.-J. Lih, D. J. Sims, M. G. Mehaffey, 

M. Dindinger, E. Levandowsky, C. C. Lee, T. T. Harkin, P. 

Brzoska, B. Conley, S. Kummar, P. M. Williams. 

1069T A 30-year perspective of International Fanconi 

Anemia Registry. A. D. Auerbach, IFAR Collaboration 

Team. 

1070F Histology and prognostic markers are powerful 

tools for predicting BRCA mutation status. C. D. 

Delozier, A. Rahman, T. Liu, C. J. Curry. 

1071W Variants of uncertain significance in BRCA 

testing: Surgical decisions, risk perception, cancer 

distress, and evaluation of the genetic cancer risk 

assessment process. J. O. Culver, C. D. Brinkerhoff, J. 

Clague, K. Yang, K. E. Singh, S. R. Sand, J. N. Weitzel. 

1072T The contribution of predisposition 

polymorphisms for body size to the inherited risk of 

colorectal cancer. L. Carvajal-Carmona, G. Casey, O. 

Sieber, G. Montgomery, J. Young, P. Baird, D. Kerr, R. 


POSTER SESSIONS


Houlston, M. Dunlop, I. Tomlinson, Colon Cancer Family 

Registry, COGENT Consortium. 

1073F The combined effect of the functional variants 

in cell death pathway genes on cervical cancer. K. 

Chattopadhyay, C. Dandara, A. Hazra, A. L. Williamson. 

1074W Genetic ancestry is associated to changes in 

DNA repair capacity in non-melanoma skin cancer 

patients from Puerto Rico. H. J. Diaz-Zabala, L. Morales, 

J. Matta, J. Dutil. 

1075T Genetic ancestry and breast cancer survival in 

U.S. Latinas. L. Fejerman, D. Hu, S. Huntsman, C. Eng, E. 

Gonzalez Burchard, E. M. John, M. C. Stern, E. Perez- 

Stable, E. Ziv. 

1076F Genetic polymorphisms in candidate 

inflammation-related genes and risk of esophageal 

squamous cell carcinoma. A. Golozar, T. Beaty, P. Gravitt, 

I. Ruczinski, Y. L. Qiao, J. H. Fan, T. Ding, Z. Z. Tang, A. 

Etemadi, N. Hu, S. M. Dawsey, N. D. Freedman, C. C. 

Abnet, A. Goldstein, P. R. Taylor. 

1077W Frequency of VNTR polymorphism in IL-1Ra 

gene in colorectal cancer. I. A. Gutíerrez, E. Cortes, A. M. 

Puebla, M. P. Gallegos. 

1078T Individual ancestry influences the gene 

expression profile in breast cancer patients of admixed 

populations. D. Hu, E. Ziv. 

1079F Risks of colorectal and other cancers following 

endometrial cancer in Lynch syndrome. M. A. Jenkins, 

N. M. Lindor, R. W. Haile, P. A. Newcomb, L. Le Marchand, 

S. Gallinger, J. L. Hopper, A. K. Win. 

1080W Prevalence and clinical features of HOXB13 

mutation carriers in prostate cancer patients from 

Germany. C. Maier, J. Xu, S. L. Zheng, M. Luedeke, A. E. 

Rinckleb, W. Vogel, S. N. Thibodeau, K. A. Cooney, W. B. 

Isaacs on behalf of ICPCG. 

1081T Histologic types and risk factors in familial lung 

cancer cases from Southern Louisiana. D. Mandal, 

M. Haskins, A. Bencaz, J. Hutchinson, J. Chambliss, H. 

Rothschild, J. E. Bailey-Wilson. 

1082F Using an 18 locus genotype to predict risk of 

breast cancer, and the relationship between age, 

estrogen receptor status and genetic risk. C. Merrick, 

C. Purdie, L. Jordan, C. Palmer, R. Tavendale, A. Ashfield, 

P. Quinlan, P. Armory, A. Thompson, J. Berg. 

1083W Association between prostate cancer occurrence 

and Y-chromosomal STRs. M. Miri Nargesi, A. Nazemi, P. 

Amini, P. Ismail, R. Vasudevan, P. Pasalar, A. H. Abdul Razack. 

1084T The clinical phenotype of endometrial cancer in 

women of Newfoundland and Labrador with a MSH2 

Lynch syndrome mutation. A. H. G. Nichols, L. M. 

Dawson, J. Green, E. Dicks, P. Parfrey. 

1085F A unique African prostate cancer cohort to 

investigate genetic and environmental risk factors of 

aggressive disease within Africa. E. A. Tindall, M. S. R. 

Bornman, S. van Zyl, D. C. Petersen, A. M. Segone, L. R. 

Monare, P. A. Venter, V. M. Hayes. 

1086W Insulin-like growth factor biomarkers 

and genetic polymorphisms are associated with 

adenomatous polyp risk. C. B. Vaughn, H. Ochs-Balcom, 

J. Nie, Z. Chen, C. L. Thompson, L. Li. 

1087T An unusual BRCA mutation distribution in a high 

risk cancer genetics clinic. A. C. Nelson-Moseke, J. M. 

Jeter, H. Cui, D. Roe, S. K. Chambers, C. M. Laukaitis. 

1088F Functional characterization of the pancreatic 

cancer TERT-CLPTM1L risk locus on Chr5p15.33. J. Jia, 

A. Thompson, A. Bosley, H. Parikh, Z. Wang, I. Collins, G. 

Petersen, C. Westlake, T. Andresson, L. Amundadottir. 

1089W A comprehensive approach to evaluating the 

impact of sequence variants of uncertain significance 

in 24 breast cancer genes on transcript splicing. S. 

Casadei, T. Walsh, C. H. Spurrell, A. M. Thornton, J. B. 

Mandell, S. M. Stray, M. K. Lee, M. C. King. 

1090T Functional analysis of germline TP53 mutations 

in lymphocytes from Li-Fraumeni patients reveals a 

drastic biological impact of missense mutations. J.-M. 

Flaman, Y. Zerdoumi, C. Durambure, J. Laury-Andas, G. 

Bougeard-Denoyelle, T. Frebourg, French LFS Working 

Group. 

1091F Investigation of the bladder cancer association 

within TP63 gene region. Y.-P. Fu, I. Kohaar, J. Earl, 

W. Tang, J. D. Figueroa, N. Malats, M. Garcia-Closas, 

N. Chatterjee, M. Kogevinas, P. Porter-Gill, D. Baris, D. 

Albanes, M. P. Purdue, A. Carrato, A. Tardón, C. Serra, R. 

García-Closas, J. Lloreta, A. Johnson, M. Schwenn, M. R. 

Karagas, A. Schned, W. R. Diver, S. M. Gapstur, M. Thun, 

J. Virtamo, D. T. Silverman, N. Rothman, F. X. Real, L. 

Prokunina-Olsson. 

1092W Genetic variant as a selection marker for anti- 

PSCA immunotherapy of bladder cancer. I. Kohaar, 

P. Porter-Gill, P. Lenz, Y. P. Fu, A. Mumy, W. Tang, A. B. 

Apolo, N. Rothman, D. Baris, A. R. Schned, K. Ylaya, M. 

Schwenn, A. Johnson, M. Jones, M. Kida, D. T. Silverman, 

S. M. Hewitt, L. E. Moore, L. Prokunina-Olsson. 

1093T Tumor microenvironment and genetic 

association with colorectal cancer risk. V. Peltekova, M. 

Lemire, Q. Trinh, A. Qazi, R. Bielecki, L. Hodgson-Jensen, 

D. D’Souza, S. Zandi, T. Chong, R. De Borja, L. Timms, J. 

Rangrej, M. Volar, M. Chan-Seng-Yue, T. Beck, J. Kwan, K. 

Kozak, C. Ash, L. D. Stein, J. E. Dick, J. D. McPherson, B. 

W. Zanke, A. Pollett, S. Gallinger, T. H. Hudson. 

1094F Evaluation of the functional effects on cell 

signaling caused by allelic forms of prostate stem cell 

antigen. P. Porter-Gill, A. Mumy, W. Tang, I. Kohaar, L. 

Prokunina-Olsson. 

1095W Discovery and functional characterization of 

somatic mutations in the novel tumor suppressor 

DEAR1. J. Reuther, N. Chen, S. Balasenthil, A. Killary. 


1096T rs28381943 and rs2032586 SNPs of ABCB1 

gene may be the reason of mRNA stabilization which 

may lead to gene overexpression. M. S. Shahbazi, 

M. M. Mansoori, M. G. Golalipour, S. A. Alizadeh, A. J. 

Jahangirerad, A. T. Tahmasebifar, S. R. K. Khanduzi. 

1097F Identification and functional characterization of 

a novel splicing form of the TPCN2 gene on 11q13.3 

within a region associated with prostate cancer 

risk. N. Sikdar, C. Chung, J. Fang, M. Tarway, W. Tang, 

S. Mukherjee Dey, S. Ambs, L. Prokunina-Olsson, S. 

Chanock. 

1098W An integrated analysis of genomic variation 

and transcriptome sequencing to identify novel 

susceptibility genes for breast cancer. E. Wagner, S. 

Clare, M. Radovich, Y. Liu, B. Schneider, A. M. Storniolo, 

C. He. 

1099T Effects of breast cancer associated PALB2 

c.1592delT founder mutation at the cellular level. 

R. Winqvist, J. Nikkilä, K. Pylkäs, H. Peltoketo, B. Xia, H. 

Pospiech. 

1100F Global correlation of expression with prostate 

cancer associated variants identifies IRX4 as a 

prostate cancer expression trait locus. X. Xu, W. M. 

Hussain, N. Kitabayashi, M. A. Rubin, F. Demichelis, R. J. 

Klein. 

1101W Interplay of tumor suppressor genes and 

oncogenes in ovarian cancer. M. Zhao, S. Sun, Z. Zhao. 

1102T Establishment of breast, leiomyosarcoma 

and thyroid cancer stem cells derived from carriers 

of p.R337H TP53 germline mutation within one Li- 

Fraumeni syndrome family. L. I. Mambelli, I. Kerkis, F. 

Fortes, P. Hainaut, M. I. W. Achatz. 

1103F Functional validation using eQTL needs cellspecific 

approaches. S. Kim, H.-H. Won, J.-W. Kim, D. H. 

Kim, S.-T. Lee, S. Kim, S.-H. Kim, C. W. Jung. 

1104W Functional characterization of HLA allelotypes 

associated with follicular lymphoma risk. F. C. M. Sillé, 

L. Conde, C. F. Skibola. 

1105T microRNA expression for classification of 

histiocytic sarcomas in dogs. J. Aguirre Hernandez, J. M. 

Dobson, T. M. Hoather, D. R. Sargan, F. Constantino-Casas. 

1106F Molecular urine assay of PCA3, MMP2, MMP9 

and KLK3 in men with prostate cancer and benign 

prostatic hyperplasia. H. Akin, A. Simsir, F. Hazan, T. R. 

Ozdemir, I. Cureklibatir, G. Itirli, C. Gunduz, C. Ozkinay, F. 

Ozkinay. 

1107W The effect of copy number variation in the 

phase II detoxification genes, UGT2B17 and UGT2B28, 

on colorectal cancer risk. A. Y. Angstadt, A. S. Berg, J. 

Zhu, P. Miller, T. J. Hartman, S. M. Lesko, J. E. Muscat, P. 

Lazarus, C. J. Gallagher. 

1108T Genetic sequence variant in microRNA genes 

and survival in non-small cell lung cancer. A.K. Azad, 


X. Qiu, T. Popper, K. Boyd, Q. Kuang, Y.B. Berhane, H. 

Henrique, N. Perera, P. Prakruthi, D. Patel, S. Momin, M. 

Nakhla, E. Marjan, Z. Chen, D. Cheng, R. Feld, N.B. Leighl, 

F.A. Shepherd, M.-S. Tsao, W. Xu, G. Liu, S. Cuffe. 

1109F The PROFILE Study: Genetic prostate cancer 

risk stratification for targeted screening. E. K. Bancroft, 

E. C. Castro, N. Taylor, E. Page, E. Saunders, T. Dadaev, A. 

Lee, A. Antoniou, Z. Kote-Jarai, R. Eeles. 

1110W Lgr5 expression and its relatedness with 

other tumor stem cell markers in human gastric 

adenocarcinoma. W. Fan, Y. W. Guo, Y. Y. Xie, Y.S. Li, W. 

Chen. 

1111T The TP53 16 bp duplication polymorphism is 

associated with breast cancer. M. Gallegos, Jr., A. 

Gutiérrez, A. Ramos, E. Salas, J. M. Castro, A. M. Puebla, 

L. E. Figuera, G. M. Zúñiga. 

1112F Statistics of cellular evolution in leukemia: 

Allelic variations in patient trajectories based on 

immune repertoire sequencing. H. Gao, C. Wang, A. 

C. Logan, C. D. Bustamante, J. Seok, D. B. Miklos, R. W. 

Davis, M. W. Feldman, W. Xiao. 

1113W Genetic polymorphisms and colorectal cancer 

risk: A systematic review of meta-analyses. B. Haerian, 

M. Haerian. 

1114T NRF2 and sulfiredoxin genetic polymorphisms 

and protein expression predict outcome in breast 

cancer. J. M. Hartikainen, M. Tengström, V.-M. Kosma, V. 

Kinnula, A. Mannermaa, Y. Soini. 

1115F Complex tumor genomes inferred from plasma- 

DNA and circulating tumor cells of patients with 

cancer. E. Heitzer, M. Auer, E. M. Hoffmann, C. Beneken, 

M. Pichler, P. Ulz, S. Lax, J. Waldispuehl-Geigl, O. 

Mauermann, G. Pristauz, C. Lackner, G. Höfler, F. Eisner, 

E. Petru, H. Sill, H. Samonigg, K. Pantel, S. Riethdorf, T. 

Bauernhofer, J. B. Geigl, M. R. Speicher. 

1116W Novel integrative genomics approach for 

associating GWAS information with triple negative 

breast cancer. C. Hicks, K. Backus, A. Pannuti, L. Miele. 

1117T Germline variation in TP53 regulatory network 

genes associates with breast cancer survival and 

treatment outcome. M. Jamshidi, M. K. Schmidt, T. Dörk, 

M. Garcia-Closas, T. Heikkinen, S. Cornelissen, S. van 

den Broek, P. Schürmann, A. Meyer, T. W. Park-Simon, 

J. Figueroa, M. Sherman, J. Lissowska, G. T. Keong, 

A. Irwanto, M. Laakso, S. Hautaniemi, K. Aittomäki, C. 

Blomqvist, J. Liu, H. Nevanlinna. 

1118F Detection of FLT3 internal tandem duplication 

and D835 mutations in Iranian patients with acute 

myeloid leukemia. L. Kokabee, A. Ahmadzadeh, M. 

Kokabee, M. Karimipoor. 

1119W Association of gastric cancer with Amerindian 

ancestry, socioeconomic and nutritional factors and 

a gene candidate study in a Latin American admixed 

population. L. Lacorte, R. Zamudio, G. Soares-Souza, 


POSTER SESSIONS


P. Herrera, L. Cabrera, C. Hooper, J. Cok, J. Combe, 

G. Vargas, W. Prado, S. Schneider, M. Rodrigues, S. 

Chanock, D. Berg, R. Gilman, E. Tarazona-Santos, 

F. Kehdy. 

1120T Detection of P16 expression and human 

papillomavirus in oropharyngeal squamous cell 

carcinoma. S. Lai, V. Sandulache, J. Zevallos. 

1121F BORIS expression in squamous intraepithelial 

lesions and cervical cancer. B. Lazalde, N. Velazquez- 

Hernandez, M. Barragán-Hernandez, M. A. Reyes- 

Romero. 

1122W An informative clinical applicable serum 

miRNAs 371-3 and 302/367 test for (germ cell) 

cancer patients. L. H. J. Looijenga, A. J. M. Gillis, M. A. 

Rijlaarsdam, R. Eini, L. C. J. Dorssers, Y. van der Zwan, C. 

M. de Boer, S. J. White. 

1123T Gene variants in chemokine and chemokine 

receptor with risk of prostate cancer in North Indian 

cohort. R. D. Mittal, R. K. Mandal. 

1124F The regulatory BCL2 promoter polymorphism 

(-938C,A) is associated in Iranian women breast cancer 

patients. B. Motahari, M. Ghaffarpour, G. H. Javadi, M. 

Houshmand. 

1125W Type II transmembrane serine protease gene 

variants associate with breast cancer. K. M. Nieminen, 

J. M. Hartikainen, V. Kataja, V.-M. Kosma, A. Mannermaa. 

1126T Prevalence and prognostic impact of Ikaros 

deletions in childhood acute lymphoblastic leukemia 

treated according to NOPHO protocols. I. Ofverholm, A. N. 

Tran, G. Barbany, A. Nordgren, M. Heyman, M. Nordenskjöld. 

1127F Genotype proline/proline of TP53 codon 72 

polymorphism is enriched in breast cancer. A. M. 

Puebla, A. Gutiérrez, A. Ramos, E. Salas, J. M. Castro, R. 

Ramírez, M. P. Gallegos. 

1128W 3R/3R genotype of TYMS gene is associated 

with non response of chemotherapy in breast cancer 

patients. A. Ramos, E. Salas, J. M. Castro, L. E. Figuera, 

A. M. Puebla, M. P. Gallegos. 

1129T Characterization of breast cancer intrinsic 

subtypes in Mexican women using integrative 

multiplatform analysis. C. Rangel-Escareño, I. Imaz- 

Rosshandler, S. Muñoz-Montero, J. E. Castillo-Fernandez, 

A. Hidalgo-Miranda. 

1130F International collaborative analysis of the 

InSiGHT database quantifies unique reports and 

redefines the V.U.S. challenge for DNA mismatch repair 

genes (MMR). R. P. Raval, L. Baez-Cabrera, J. P. Plazzer, 

S. Okochi, F. Macrae, M. Genuardi, T. K. Weber. 

1131W Frequency of non-DNA-binding Ikaros isoforms 

in childhood acute lymphoblastic leukemia and relapse 

or death risk. A. Reyes-León, R. Juárez-Velázquez, 

A. Medrano-Hernández, T. Cuenca-Roldán, C. Salas- 

Labadía, P. Navarrete-Meneses, R. Paredes-Aguilera, R. 

Rivera-Luna, R. Cárdenas-Cardos, G. López-Hernández, 

R. Bernaldez, P. Pérez-Vera. 

1132T Gene expression profile of human telomere and 

telomerase complex in gastric cancer. L. C. Santos, F. 

Wisnieski, D. Q. Calcagno, M. F. Leal, T. B. Pontes, C. O. 

Gigek, E. S. Chen, S. Demachki, P. P. Assumpção, R. R. 

Burbano, M. A. C. Smith. 

1133F Chemotherapy response in ovarian cancer is 

modulated by the DNA encoded microRNA family 

miR-17-92a. I. Shapira, A. Lee, M. Oswald, J. Lovecchio, 

A. Menzin, J. Whyte, L. Dos Santos, K. Sultan, V. John, K. 

Cheng, S. Liang, T. Bradley, D. Budman. 

1134W Single-nucleotide polymorphisms in genes 

encoding Toll-like receptor -2, -3, -4, and -9 in casecontrol 

study with bladder cancer susceptibility in 

North Indian population. V. Singh, N. Srivastava, R. 

Kapoor, R. D. Mittal. 

1135T Clinical impact of MMP-3 and TIMP-3 gene 

polymorphisms in prostate cancer. P. Srivastava, R. 

Kapoor, R. D. Mittal. 

1136F Role of SOCS3 promoter methylation in the 

pathogenesis of myeloproliferative neoplasms and 

secondary/reactive erythrocytosis/thrombocythemia. 

D. Torun, O. Nevruz, M. Akyol, S. Kozan, M. Bahce, S. 

Guran, C. Beyan. 

1137W Association of common polymorphisms in 

TNF-a pathway genes and apoptotic genes with risk 

and prognosis of esophageal cancer. M. Umar, R. 

Upadhyay, S. Kumar, U. C. Ghoshal, B. Mittal. 

1138T Colon cancer in a 9-year-old female due to 

combined inherited EPCAM deletion and hMSH2 missense 

mutation leading to tissue-specific bi-allelic loss 

of expression of hMSH2. P. J. Ainsworth, H. H. Li Chang, 

H. Levin, D. K. Driman, V. M. Siu, A. E. L. Cairney, N. L. 

Scanlan, K. Buckley. 

1139F NF1 second hit leads to the upregulation 

of HLA class II genes and recruitment of Tregs in 

neurofibromas. E. M. Jouhilahti, S. Peltonen, E. P. 

Jokinen, T. Callens, H. Aho, E. Legius, O. Lassila, L. 

Messiaen, J. Peltonen. 

1140W Genetic screening of colorectal cancer 

patients for the Lynch syndrome detection in Estonian 

population. M. Kask, E. Oitmaa, K. Toome, K. Raime, K. 

Vaidla, P. Laidre, J. Jaal, J. Soplepmann, V. Afanasjev, T. 

Erm, H. Roomere. 

1141T CASP8AP2 and H2AFZ expression as a 

prognosis factor in childhood acute lymphoblastic 

leukemia. R. Juárez-Velázquez, A. Reyes-León, C. 

Salas, R. Paredes, R. Cardenas, G. López-Hernández, 

A. Lopez, A. Carnevale, R. Ortiz, R. Bernaldez, 

P. Perez-Vera. 

1142F Circulating miRNAs as non-invasive blood based 

diagnostic biomarkers. R. Duttgupta, R. Jiang, J. Gollub, 

T. Stamato, B. C. Getts, K. W. Jones. 


1143W Comparison of PCR method and RUT test for 

detection of Helicobacter pylori infection in gastric 

tissue. N. Bagheri, L. Salimzadeh, F. Azadegan, G. 

Rahimian, A. Taghikhani, M. Hashemzadeh, H. Shirzad. 

1144T Lowered PTEN protein dosage predicts for 

underlying germline PTEN mutations amongst patients 

presenting with thyroid cancer and Cowden-like 

phenotypes. J. Ngeow, X. He, J. Mester, J. Lei, T. Romigh, 

M. Milas, M. Orloff, C. Eng. 

1145F Cellular uterine leiomyomata with 

chromosome 1p deletions represent a distinct entity. 

J. C. Hodge, A. T. Florin, K. E. Pearce, A. C. Clayton, 

E. A. Stewart. 

1146W Cancer biomarker research using castPCR 

technology. T. Hartshorne, Y. Bao, B. Ching, M. 

Mouanoutoua, Y. Wang, D. Keys, S. Desai, J. Stevens. 

1147T Naturally missing teeth and ovarian cancer: A 

potential genetic link. L. Morford, A. Vu, K. Kirk, M. Gilbey, 

G. Falcao-Alencar, M. Sakamoto, D. Fardo, J. Hartsfield Jr. 

1148F A meta-analysis of genome-wide association 

studies to identify prostate cancer susceptibility 

loci associated with aggressive and non-aggressive 

disease. A. Amin Al Olama, Z. Kote-Jarai, F. R. 

Schumacher, F. Wiklund, S. I. Berndt, S. Benlloch, G. G. 

Giles, G. Severi, D. E. Neal, F. C. Hamdy, J. L. Donovan, D. 

J. Hunter, B. E. Henderson, S. Chanock, H. Gronberg, C. 

A. Haiman, P. Kraft, D. F. Easton, R. A. Eeles, PRACTICAL 

Consortium. 

1149W Identifying genetic modifiers in two p16 

melanoma pedigrees. M. H. Bailey, C. Teerlink, J. M. 

Farnham, L. Cannon-Albright. 

1150T Genome-wide association studies identify four 

novel ER-negative specific breast cancer risk loci. F. 

J. Couch, M. Garcia-Closas, S. Lindstrom, K. Michailidou, 

M. K. Schmidt, M. Brook, N. Orr, S. Slager, D. J. Hunter, 

J. Simard, J. Benitez, A. Dunning, M. E. Sherman, G. 

Chenevix-Trench, S. J. Chanock, P. Hall, P. Pharoah, C. 

Vachon, D. F. Easton, C. A. Haiman, P. Kraft for BPC3, 

TNBCC, and BCAC. 

1151F cAMP and cGMP signaling may play an 

important role in the development of prostate cancer. 

R. de Alexandre, A. Horvath, A. Manning, D. Carraro, F. 

Soares, M. Nesterova, S. Constantine, F. Faucz. 

1152W Genome-wide association for multiple myeloma 

reveals overlap between variants associated with 

susceptibility and survival. E. Dean, D. Hu, P. Bracci, V. 

Krepkiy, T. Martin, J. Wolf, E. Ziv. 

1153T Genetic risk factors for malignant pleural 

mesothelioma: A genome-wide association study. I. 

Dianzani, S. Guarrera, M. Betti, G. Fiorito, D. Ferrante, 

F. Voglino, G. Cadby, A. Russo, C. Di Gaetano, F. Rosa, 

E. Casalone, M. Padoan, M. Giordano, A. Aspesi, C. 

Casadio, F. Ardissone, E. Ruffini, P. G. Betta, R. Libener, R. 

Guaschino, E. Piccolini, L. Palmer, M. Neri, D. Mirabelli, D. 

Ugolini, S. Bonassi, C. Magnani, G. Matullo. 


1154F A region of autozygosity at 8q21.3 and lung 

cancer risk. M. T. Landi, K. Jacobs, M. Yeager, D. 

Albanes, M. Thun, N. E. Caporaso, S. Chanock, J. Shi. 

1155W IL28B allelic protein isoforms differentially 

activate interferon-stimulated genes. A. Mumy, B. 

Muchmore, W. Tang, H. Park, F. Sheikh, B. Rehermann, R. 

Donnelly, L. Prokunina-Olsson. 

1156T Three novel common susceptibility loci for 

ovarian cancer identified by GWAS meta-analysis and 

replication. S. J. Ramus, P. D. P. Pharoah, Y. Y. Tsai, C. M. 

Phelan, A. N. A. Monteiro, S. A. Gayther, J. M. Schildkraut, 

T. A. Sellers on behalf of Ovarian Cancer Association 

Consortium. 

1157F Insights into pancreatic cancer etiology from 

pathway analysis of genome-wide association study 

data. P. Wei, H. Tang, D. Li. 

1158W Pathway-based analysis of genomewide 

SNP data reveals new candidate genes for 

susceptibility to melanoma. M. Brossard, A. Vaysse, 

E. Corda, P. Jeannin, H. Mohamdi, V. Chaudru, N. 

Lavielle, B. Bressac-de Paillerets, M. F. Avril, M. Lathrop, 

F. Demenais. 

1159T Susceptibility loci associated with specific and 

shared subtypes of lymphoid malignancies. V. Joseph, 

T. Kirchhoff, J. Brown, K. A. Schrader, A. Dutra-Clarke, 

C. Manschreck, N. Hansen, R. Rau-Murthy, K. Sarrel, J. 

Przybylo, S. Shah, S. Cheguri, Z. Stadler, L. Zhang, O. 

Paltiel, D. Yehuda, A. Viale, C. Portlock, D. Strauss, S. L. 

Lipkin, M. Lacher, M. Robson, R. J. Klein, A. Zelenetz, 

K. Offit. 

1160F Second generation DCEG Reference Set 

improves performance of genotype imputation. 

Z. Wang, K. B. Jacobs, M. Yeager, A. Hutchinson, J. 

Sampson, M. Tucker, S. J. Chanock. 

1161W Are there genetic variants that confer shared 

genetic susceptibility to pancreatic cancer and 

melanoma? L. Wu, K. Rabe, G. Petersen. 

1162T Oncogenic rewiring by the t(11;19)(q21;p13) 

coactivator fusion, CRTC1/MAML2, involves direct 

activation of the pluripotency factor MYC. A. L. Amelio, 

F. X. Schaub, M. Fallahi-Sichani, M. B. Lawani, M. R. 

Southern, B. M. Young, L. Wu, F. J. Kaye, J. L. Cleveland, 

M. D. Conkright. 

1163F Meta-analysis identifies microRNA expression 

signature in non-small-cell lung cancer. T. Annilo, U. 

Vısa, T. Vooder, R. Kolde, J. Vilo, A. Metspalu. 

1164W The effect of non-viral magnet assisted 

transfection on chronic myeloid leukemia cell line with 

downregulated miR-150. T. Balci, C. Birayavci, S. Yilmaz, 

Z. O. Dogan Sigva, G. Saydam, C. Gunduz. 

1165T The novel resequencing diagnostic microarray: 

RDMGGA1.0, can detect at a diagnose level 

mutations in patients with breast, ovarian, colon, 

skin and multiple cancers. D. Bercovich, Y. Plotsky, 


POSTER SESSIONS


T. Morad, S. Allon-Shalev, AM. Lichanska, LA. Borsuk, 

C. Tibbetts. 

1166F A new approach for an anti-diabetic drug 

metformin in prostate cancer. C. Biray Avci, E. Harman, 

S. Yilmaz, Y. Dodurga, C. Gunduz. 

1167W mRNA-seq of single prostate cancer circulating 

tumor cells reveals recapitulation of gene expression 

and pathways found in prostate cancer. G. Cann, Z. 

Gulzar, S. Cooper, M. Tat, R. Li, S. Stuart, S. Luo, M. 

Ronaghi, J. Brooks, A. Talasar. 

1168T Detection of sequences of MMTV-like 

retroviruses in breast cancer from Mexican women. 

A. Cedro-Tanda, I. A. Cordova-Solis, D. J. Arenas- 

Aranda, J. Torres-López, F. A. Salamanca-Gomez, C. 

Moctezuma-Meza, G. Castelazo-Rodriguez, N. Garcia- 

Hernandez. 

1169F Expression of stem cell gene, Piwil2 and 

testis specific genes TSGA10, TEX101 and ODF3 

in breast cancer. M. Dianatpour, P. Mehdipour, M. 

Miryounesi, S. Savad, F. Yazarlou, M. Mobasheri, M. H. 

Modarressi. 

1170W PMS2 screening: Could massive parallel 

sequencing facilitate gene analysis? J. Duclos, F. Pires, 

G. Legrand, C. Colas, J. Lefevre, M. Eyries, C. Wang, Y. 

Parc, F. Soubrier, F. Coulet. 

1171T FANCD2 immunohistochemical expression is 

a prognostic marker in breast cancer. R. Fagerholm, 

K. M. Sprott, T. Heikkinen, J. Bartkova, P. Heikkilä, K. 

Aittomäki, J. Bartek, D. T. Weaver, C. Blomqvist, H. 

Nevanlinna. 

1172F Effects of cassia extracts on cytotoxicity, 

apoptosis and gene expression in HL-60 cells. C. 

Gündüz, S. Yilmaz Süslüer, B. Agrap, C. Biray Avci, F. 

Lermioglu. 

1173W Universal Lynch syndrome screening result 

notification: Efficacy affected by method. H. Hampel, I. 

Lattimer, W. L. Frankel. 

1174T Allele-specific expression imbalances of MCC 

and reduced susceptibility to colorectal cancer in 

schizophrenia. L. He, G. He. 

1175F RAD51 polymorphisms and breast cancer risk. 

M. Hosseini, M. Houshmand, A. Ebrahimi. 

1176W Design and development of a next-generation 

sequencing assay for multiplex detection of somatic 

mutations in FFPE tissues. E. B. Jaeger, R. Haigis, M. 

Bauer, J. Yeakley, J. Betley, N. Udar. 

1177T Genotypic distribution of MMP1 (1607, 1G/2G) 

promoter in childhood malignant gliomas. P. Kawal, R. 

Kumar, A. Chandra, T. N. Dhole, B. K. Ojha. 

1178F Antileukemic effect of paclitaxel in combination 

with metformin in HL-60 cell line. C. Kayabasi, C. 

Birayavci, S. Yilmaz Susluer, Z. O. Dogan Sigva, T. Balci, 

G. Saydam, C. Gunduz. 

1179W The X-linked tumor suppressor TSPX disrupts 

the positive feedback loop of the viral oncoprotein HBx 

in HBV-associated hepatocarcinogenesis. T. Kido, Y.-F. 

C. Lau. 

1180T Comparison of minor groove binding 

ligands and known carcinogen blastomogenic, 

recombinogenic and mutagenic activity revealed by 

SMART in wts/1 hetesozygous flies. K. Kirsanov, E. 

Lesovaya, G. Belitsky, M. Yakubovskaya. 

1181F GR-mediated regulation of gene expression by 

standard glucocorticoids and selective glucocorticoid 

receptor agonists in lymphoma cells. E. Lesovaya, A. 

Yemelyanov, K. Kirsanov, V. Gasanova, M. Yakubovskaya, 

I. Budunova. 

1182W Sub-cellular localization of Y-box protein 1 

regulates proliferation, migration and tumorigenicity 

in astrocytomas. X. Liu, D. Faury, C. Sollier, N. Gerges, 

B. Meehan, Z. Dong, P. Siegel, A. Korshunov, S. Pfister, J. 

Rak, N. Jabado. 

1183T Integrative analysis of TCGA clinical and 

genomic data reveals conflicting roles of REST 

gene expression in recurrent glioblastoma. J. 

Madhusoodanan, M. Shekar, J. Su, I. Kupershmidt. 

1184F Analysis of MRE11/RAD50/NBN genes in 

childhood acute lymphoblastic leukemia. J. Nowak, 

M. Mosor, I. Ziolkowska-Suchanek, K. Nowicka, D. 

Januszkiewicz-Lewandowska. 

1185W Validation of a prostate cancer metastasis 

signature in a FFPE cohort of primary tumors. A. 

Pearlman, C. Campbell, J. Loke, S. Freedland, Y. Shao, 

H. Ostrer. 

1186T Molecular characterization of small cell 

carcinoma of the ovary. P. Ramos, M. L. Russell, L. 

Nordstrom, S. Smith, M. T. Barrett, T. Holley, E. Lenkiewitz, 

J. G. Pressey, J. Farley, S. P. Anthony, G. Hostetter, A. E. 

McCullough, K. A. Furge, B. B. Haab, J. M. Trent, H. E. 

Cunliffe. 

1187F Effects of Helicobacter pylori infection on 

MGMT and MLH1 promoter methylation status 

and microsatellite instability in pediatric and adult 

patients. M. L. Ribeiro, M. C. Alvarez, J. C. Santos, 

N. M. Maniezzo, M. S. Ladeira, I. C. A. Scaletsky, J. 

Pedrazzoli, Jr. 

1188W Role of novel and GWAS identified PLCE1 

genetic variants to gallbladder cancer susceptibility 

in north Indian population. K. L. Sharma, S. Misra, A. 

Kumar, B. Mittal. 

1189T Serum metabolomics and prostate cancer 

survival. R. Szulkin, R. Karlsson, A. Heuberger, M. Hong, 

C. Broeckling, J. Prenni, J. Prince, F. Wiklund. 


1190F Analysis of TCGA patient and curated public 

genomic data identifies differentially regulated 

processes in breast cancer metastases. R. Wisotzkey, 

A. Umesh, J. Park, J. Shima, J. Delaney, E. Kelly, E. Chiu, 

M. Shekar, I. Kupershmidt. 

1191W Extreme breast/ovarian cancer phenotypes 

in non BRCA1 and BRCA2 families of Greek ancestry. 

F. Fostira, A. V. Stavropoulou, I. Konstantopoulou, D. 

Yannoukakos. 

1192T Modeling carcinogenesis in BRCA1 and BRCA2 

heterozygous mammary epithelial cells. M. E. Keith, M. 

Tenniswood. 

1193F Integrated transcriptional and functional 

screening identifies novel regulators of lymphoid 

lineage determination. E. Laurenti, S. Doulatov, I. Plumb, 

M. Doedens, C. April, J. B. Fan, J. Dick. 

1194W microRNA in biofluids—robust biomarkers 

for disease, toxicology or injury studies: The case 

of minimally invasive colorectal cancer detection. P. 

Mouritzen, T. Blondal, D. Andreasen, N. Tolstrup, M. W. 

Teilum, A. Baker, S. J. Nielsen. 

1195T Detection of KRAS, BRAF, NRAS and PIK3CA 

cancer markers by castPCR technology. J. Au-Young, 

D. Keys, B. Ching, M. Mouanoutoua, D. Merrill. 

1196F Identifying the causes of dyskeratosis 

congenita: The prototypical telomere biology disorder. 

S. A. Savage, N. Giri, B. Ballew, B. P. Alter. 

1197W Germline BAP1 mutation: Additional case report 

and expanding clinical phenotype. R. Pilarski, C. M. 

Cebulla, T. Rich, L. Strong, M. H. Abdel-Rahman. 

1198T Detection of human breast cancer gene 

fusions from RNA-sequencing analysis of 

formalin-fixed paraffin-embedded tissue specimens. 

Y. Ma, J. Stephans, R. Ambannavar, J. Jeong, J. 

Morlan, A. Dei Rossi, M. Liu, D. Sinicropi, J. Baker, 

K. Qu. 

1199F Analysis of quantitative trait loci (eQTLs) in 

pancreatic cancer by RNA sequencing. H. Parikh, J. Jia, 

W. Xiao, I. Collins, J. Hoskins, J. Powell, S. Thorgeirsson, 

J. Shi, G. Petersen, L. Amundadottir. 

1200W Identification of fusion transcripts and copy 

number variations in acute lymphoblastic leukemia by 

next-generation RNA and DNA sequencing. M. Bonin, 

C. Schroeder, M. Sturm, U. Pflückhahn, M. Feldhahn, 

O. Kohlbacher, H. G. Rammensee, P. Lang, O. Riess, P. 

Bauer, M. Walter. 

1201T Admixture rate estimation and post-call 

correction for complete genomics matched tumornormal 

whole genome sequencing data. M. Chen, Z. 

Omay, A. Serin, M. Gunel, H. Zhao. 

1202F Transcriptome analysis of blast cells of patients 

with acute lymphoblastic leukemia in diagnosis 

and relapse. M. A. Chiabai, G. R. Fernandes, L. H. T. 

Sakamoto, R. Pogue, R. W. Pereira. 


1203W Comprehensive germline susceptibility variant 

discovery in ovarian cancer using exome sequencing 

data. L. Ding, K. Johnson, K. Kanchi, M. Mclellan, C. Lu, 

Q. Zhang, D. Koboldt, C. Kandoth, T. Graubert, T. Ley, E. 

Mardis, R. Wilson. 

1204T Whole-exome sequencing of four patients with 

critera of familial hyperplastic polyposis. C. Garrec, 

S. Küry, P. Lindenbaum, V. Vidal, F. Airaud, J. Chettrit, E. 

Cauchin, J. F. Mosnier, S. Bézieau. 

1205F RAD51 paralogs mutation screening in 

breast and ovarian cancer families. L. Golmard, 

V. Caux-Moncoutier, G. Davy, E. Al Ageeli, B. Poirot, 

C. Tirapo, D. Michaux, C. Barbaroux, C. Dubois 

d’Enghien, L. Castéra, M.-H. Stern, C. Houdayer, D. 

Stoppa-Lyonnet. 

1206W MLH1, MSH2 and MSH6 mutations identified by 

DNA sequencing and MLPA analysis: Experience from 

the Colon Cancer Family Registry. S. R. Gunawardena, 

M. S. DeRycke, N. M. Lindor, M. A. Jenkins, J. L. 

Hopper, D. D. Buchanan, S. Gallinger, P. Newcomb, L. 

LeMarchand, R. W. Haile, S. N. Thibodeau, Colon Cancer 

Family Registry. 

1207T Whole-exome sequencing of a rare case of 

familial childhood acute lymphoblastic leukemia. J. 

Healy, C. Richer, J. F. Spinella, V. Saillour, R. Vidal, E. 

Bareke, S. Busche, B. Ge, T. Pastinen, D. Sinnett. 

1208F Comprehensive BRCA1 and BRCA2 mutational 

profile in Lithuania. R. Janavicius, V. Rudaitis, L. 

Griskevicius. 

1209W A broad re-sequencing study of 409 genes 

in NCI-60 cell lines using the Ion Ampliseq 

Comprehensive Cancer Panel and Ion PGM 

semiconductor sequencing reveals previously 

unreported cell line-specific mutations. B. S. G. Kong, 

M. Shannon, I. Casuga, D. Joun, S. M. Chen, C.-Y. Li, D. 

Ruff, R. Bennett. 

1210T Germline sequencing for aggressive prostate 

carcinoma. D. Larson, D. Koboldt, E. Appelbaum, M. 

O’Laughlin, R. Fulton, J. Haslag-Minoff, I. Borecki, A. 

Kibel, R. Wilson, E. Mardis. 

1211F A next-generation sequencing diagnostic 

panel to test all cancer susceptibility genes. S. S. 

Mahamdallie, E. Ruark, K.-W. Lau, A. Renwick, S. Seal, E. 

Ramsay, S. Hanks, J. Douglas, N. Rahman. 

1212W New germline MET variants inhereditary 

papillary type 1 renal carcinomas within the French 

population. E. Rouleau, C. Lefol, S. Caputo, V. Verkarre, 

C. Guy, F. Copigny, C. Maugard, O. Caron, F. Eisinger, P. 

Berthet, Y.-J. Bignon, J. Chiesa, A. David, T. Frebourg, 

S. Giraud, S. Lejeune, J.-M. Limacher, H. Zattara, S. 

Deveaux, I. Bieche, S. Richard, R. Lidereau. 

1213T Rare mutations in XRCC2 confer increased risk 

of breast cancer. M. Southey, D. J. Park, F. Lesueur, T. 


POSTER SESSIONS


Nguyen-Dumont, M. Pertesi, F. A. Odefrey, F. Hammet, S. 

L. Neuhausen, E. M. John, I. L. Andrulis, M. B. Terry, M. 

Daly, S. Buys, F. Le Calvez-Klem, A. Lonie, B. J. Pope, H. 

Tsimiklis, C. Voegele, F. M. Hilbers, N. Hoogerbrugge, A. 

Barroso, A. Osorio, G. G. Giles, P. Devilee, J. Benitez, J. L. 

Hopper, S. V. Tavtigian, D. E. Goldgar, kConFab, BCFR. 

1214F Identification of genetic susceptibility loci 

for familial prostate cancer through whole exome 

sequencing: The ICPCG study design. S. N. Thibodeau, 

M. DeRycke, S. McDonnell, S. Gunawardena, Y. W. 

Asmann, S. Middha, L. Cannon-Albright, J. L. Stanford, 

E. A. Ostrander, W. B. Isaacs, J. Xu, J. Schleutker, K. A. 

Cooney, E. M. Lange, J. D. Carpten, J. E. Bailey-Wilson, 

O. Cussenot, G. G. Giles, G. Severi, C. Maier, A. S. 

Whittemore, C. L. Hsieh, F. Wiklund, W. J. Catalona, W. D. 

Foulkes, D. Mandal, R. Eeles, D. Easton, D. Seminara, D. 

Schaid on behalf of International Consortium for Prostate 

Cancer Genetics. 

1215W Discovery of novel long noncoding RNAs 

and aberrant alternative splicing events by RNAsequencing 

in childhood acute lymphoblastic leukemia. 

R. Vidal, J. F. Spinella, V. Saillour, C. Richer, J. Healy, E. 

Bareke, S. Busche, B. Ge, T. Pastinen, A. Droit, D. Sinnett. 

1216T Association of polymorphisms in the FOXE1 

gene, but not NKX2-1, with familial papillary thyroid 

carcinoma. S. G. Wilson, C.-Y. Yan, L. Ward, S. Chew, 

V. Panicker, S. J. Brown, S. Chiripal, J. Goldblatt, T. D. 

Spector, J. Walsh. 

1217F XPC gene founder splicing site mutation 

is common in Brazilian xeroderma pigmentosum 

patients. M. I. W. Achatz, K. M. Santiago, F. P. Vairo, P. 

Ashton-Prolla, P. F. V. de Medeiros, R. M. Rocha, S. R. 

Rogatto. 

1218W Rare variants in genes from esophageal 

squamous cell carcinoma genome-wide association 

studies identified by exome/whole genome sequencing 

of high-risk upper gastrointestinal cancer families. A. 

M. Goldstein, N. Hu, K. J. Jacobs, L.-J. He, X.-Y. Han, M. 

Rotunno, M. Cullen, J. Boland, H. Su, L. Wang, C. Wang, 

L. Burdett, M. Malasky, A. Hutchinson, M. Yeager, T. Ding, 

C. Giffen, M. A. Tucker, S. J. Chanock, M. Lee, P. R. Taylor. 

1219T Identification of breast cancer susceptibility 

genes. L. Guidugli, J. N. Weitzel, X. Wang, S. Hart, F. J. 

Couch, C. Szabo. 

1220F Mutations in SDHA are a common cause of 

paragangliomas and pheochromocytomas and give 

rise to a diverse tumor spectrum. A. R. Mensenkamp, J. 

U. Rao, K. L. I. van Gassen, B. Kusters, J. W. M. Lenders, 

H. P. M. Kunst, H. J. L. M. Timmers, M. J. L. Ligtenberg. 

1221W Identifying novel cancer susceptibility genes 

through exome sequencing and copy number analysis 

of individuals with Li Fraumeni-like cancer phenotypes. 

S. E. Plon, L. C. Strong, B. Powell, L. Jiang, H. Cheung, D. 

Ritter, D. M. Muzny, D. A. Wheeler, R. A. Gibbs. 

1222T Development and validation of NGS-based 

molecular diagnosis of inherited forms of colorectal 

cancer. J. Tinat, F. Charbonnier, S. Coutant, R. Marlin, 

G. Bougeard-Denoyelle, S. Baert-Desurmont, M. Tosi, T. 

Frebourg, I. Tournier. 

1223F Interpretation of variants of unknown 

significance with a large database of genotyped and 

phenotyped individuals. B. T. Naughton, A. Chowdry, J. 

M. Macpherson, G. M. Benton. 

1224W Exome sequencing identifies rare deleterious 

mutations in DNA repair genes FANCC and BLM as 

potential breast cancer susceptibility alleles. E. R. 

Thompson, M. A. Doyle, S. M. Rowley, D. Y. H. Choong, 

G. K. Philip, A. H. Trainer, P. A. James, G. Mitchell, I. G. 

Campbell, kConFab. 

1225T Cancer genetic testing panels: Preliminary 

experience within an adult genetics practice. C. G. 

Selkirk, S. M. Weiss, K. J. Vogel, A. C. Newlin, S. M. 

Weissman, P. J. Hulick. 

1226F Thirty percent of breast cancer families negative 

by commercial BRCA1/BRCA2 testing are resolved by 

mutations in 13 other breast cancer genes, by BRCA1/ 

BRCA2 phenocopies, and by BRCA1/BRCA2 CNVs. 

T. Walsh, S. Casadei, A. M. Thornton, G. Bernier, C. H. 

Spurrell, S. M. Stray, J. Mandell, M. K. Lee, M.-C. King. 

1227W Comparison of next-generation sequencing 

with traditional sequencing and MLPA for BRCA1 and 

BRCA2 testing. K. Chun, A. Brown, K. Ng, R. Denroche, J. 

D. McPherson. 

1228T Genomic capture and massively parallel 

sequencing reveals inherited loss-of-function 

mutations in 8 genes in 19% of familial breast cancer 

patients from Greece. A. Stavropoulou, T. Walsh, F. 

Fostira, M. Tsitlaidou, S. Casadei, S. Glentis, G. Fountzilas, 

I. Konstantopoulou, M. C. King, D. Yannoukakos. 

1229F Elevated rate of somatic L1 retrotransposition in 

colorectal tumors. S. Solyom, A. D. Ewing, E. Rahrmann, 

T. Doucet, H. H. Nelson, D. F. Sigmon, A. Casella, B. 

Erlanger, S. Wheelan, G. Faulkner, D. Haussler, D. 

Largaespada, H. H. Kazazian. 

1230W Mutational analysis of splicing machinery genes 

SF3B1, U2AF1 and SRSF2 in myelodysplasia and other 

common tumors. S. Lee, E. Je, M. Kim, J. Oh, N. Yoo. 

1231T Calling allele or haplotype-specific copy 

number in tumor sequence data. N. Dewal, Y. Hu, M. 

L. Freedman, T. LaFramboise, I. Pe’er, R. A. Gibbs, D. A. 

Wheeler. 

1232F Somatic mutation detection of tumor and 

matched-normal samples for semiconductor-based 

sequencing. A. H. Joyner, S. Utiramerur, D. Brinza, H. 

Breu, B. Krishnaswami, A. Shukla, J. Zhai, Y. Lou, F. 

Hyland, D. Thomas, E. Beasley. 

1233W Acute lymphoblastic leukemia: Novel 

therapeutic approach based on an active patientindividualized 

multipeptide vaccination. C. Schroeder, 

M. Sturm, U. Pflückhahn, M. Feldhahn, O. Kohlbacher, 


S. Stevanovic, H. G. Rammensee, P. Lang, O. Riess, 

P. Bauer. 

1234T No evidence for the role of somatic mutations 

and promoter hypermethylation of FH gene in the 

tumorigenesis of nonsyndromic uterine leiomyomas. S. 

Vaidya, K. P. Rao, Q. Hasan. 

1235F Somatic mutation spectrum of metastatic 

melanoma through exome sequencing of 48 tumornormal 

pairs. M. D. Willard, J. N. Calley, S.-S. Wong, R. 

H. Higgs, X. Ma, P. J. Ebert, S. M. Bray, I. H. Wulur, Y. Yue, 

Y. Lin, J. Wang, A. Aggarwal, S. Li, C. R. Reinhard, A. B. 

West, T. D. Barber. 

1236W RNA-seq identifies differentially expressed 

genes and mutations in oligodendrogliomas. E. 

Schrock, K. Szafranski, J. A. Campos Valenzuela, S. 

Schauer, D. Krex, A. Rump, K. Hackmann, G. Schackert, 

L. Kaderali, M. Platzer, B. Klink. 

1237T Identification and quantification of somatic 

mutations with the Ion AmpliSeq Cancer Panel. M. 

Andersen, S. Roman, K. Rhodes, C. VanLoy, A. Broomer, 

D. Topacio, G. Roma, R. Bennett, T. Neff, C. Beadling, C. 

Corless. 

1238F Whole-genome and targeted sequencing 

analysis of early stage high-grade serous ovarian 

cancer. M. Bibikova, S. Humphray, R. Grocock, J. 

Peden, F. Nielsen, Z. Kingsbury, J. Chien, E. L. Goode, 

V. Ho, C. April, S. Munchel, J. Cottrell, Y. Tarabishy, J. M. 

Cunningham, S. Kaufmann, L. C. Hartmann, K. R. Kalli, V. 

Shridhar, J.-B. Fan, G. Heath, D. Bentley. 

1239W Detection of somatic mutations in tumor 

genomes using de novo assembly with assembly to 

assembly mapping. A. R. Carson, W. Pfeiffer, T. Schwartz, 

G. Oliveira, T. Nicholas, G. Zhang, M. A. Miller, E. J. Topol, 

S. Levy. 

1240T Identification of therapeutic targetable 

mutations in cancer by whole transcriptome and 

genome sequencing. D. W. Craig, W. Liang, W. Tembe, A. 

Christoforides, J. Aldrich, T. Izatt, J. M. Trent, J. D. Carpten. 

1241F Identification of somatic mutations in 

parathyroid tumors using whole exome sequencing. M. 

K. Cromer, L. F. Starker, M. Choi, R. Udelsman, C. Nelson- 

Williams, R. P. Lifton, T. Carling. 

1242W Exome sequencing of metastatic prostate 

tumors, GWAS and functional analysis of the 

methylation regulator TET2 in prostate cancer. M. Dean, 

M. Nickerson, K. M. Im, K. J. Misner, W. Tan, H. Lou, D. 

W. Wells, K. Frederickson, T. Harkins, T. Naab, B. Gold, T. 

Andersson, B. Zbar, W. M. Linehan, G. S. Bova, H. Li, S. 

Anderson, M. Yeager. 

1243T Identification of novel driver mutation in EGFR/ 

KRAS/ALK: Negative lung adenocarcinoma of never 

smokers by whole exome sequencing. S. Han, J. Yoon, 

J. Ahn, H. Jang, M. Lee, H. Kim, B. Cho, J. Lee. 

1244F Detection of low frequency tumorigenesis 


variants by ultra deep sequencing (.1000x) across 

409 oncogenes. T. T. Harkins, C. C. Lee, M. Andersen, 

E. Levandowsky, M. Dindinger, J. Spangler, T. Ross, S. 

McLaughlin, V. Sheth. 

1245W Targeted sequencing of clinically relevant 

genes using TargetRich gene panels. K. Jansen 

Spayd, I. A. Vasenkova, T. Shvetsova, D. A. Kloske, R. C. 

Bachmeyer, D. T. Moore, K. E. Varley. 

1246T Rapid and economical re-sequencing of 

hundreds of genes from sample-limited specimens 

using the Ion AmpliSeq Comprehensive Cancer 

Panel and Ion PGM semiconductor sequencing. D. 

Joun, S, M. Chen, B. Kong, I. Causga, C.-Y. Li, D. Ruff, R. 

Bennett, M. Shannon. 

1247F Bayes-MutSig: A novel approach to determine 

significantly mutated genes. N. B. Larson, H. Sicotte, J. 

Sinnwell, K. R. Kalari, E. Wieben, L. Wang, J. C. Boughey, 

M. Goetz, R. Weinshilboum, B. L. Fridley. 

1248W The transcriptional landscape and mutational 

profile of lung adenocarcinoma. W. Lee, Y. Ju, J. Shin, 

J. Lee, B. Thomas, J. Lee, Y. Jung, J. Kim, J. Shin, S. Yoo, 

J. Kim, E. Lee, C. Kang, I. Park, H. Rhee, S. Lee, J. Kim, J. 

Kang, Y. Kim, J. Seo. 

1249T Genes with single nucleotide variations in earlyonset 

female breast cancer patients identified through 

exome sequencing. C. Lee, N. Leng, W. Kuo, H. Yang, 

K. Nobuta, C. Lin, C. Chang, Y. Lu, K. Lo, L. Hu, H. Chu, 

W. Chou, C. Chen, W. Yao, K. Chiu, A. Cheng, C. Shen, K. 

Chang, C. Haudenschild, C. Chen. 

1250F Pathway analysis of somatic mutations in 

the whole genome sequence of aggressive tumors 

in African American prostate cancer patients. K. 

Lindquist, R. Kazma, J. A. Mefford, T. J. Hoffmann, N. 

Cardin, B. A. Rybicki, D. A. Chitale, A. Levin, J. S. Witte. 

1251W SeqWright’s next-gen sequencing of FFPE 

tumor tissue allows for analysis of multiple cancer 

markers with high sensitivity and excellent correlation 

to other validated clinical methods. A. C. Pond, X. X. 

Tan, L. T. Szkotnicki, V. Venegas, E. Zhou, Y. Mou, K. B. 

Thomas, P. Choppa, K. Guekunst, F. Lu. 

1252T Amplicon sequencing of tumors from xenograft, 

FFPE and fresh frozen samples. B. Riley-Gillis, C. Qiu, O. 

Puig, R. Benayed. 

1253F Loss of the canonical Notch mediator RBPJ is 

recurrent in oligoastrocytomas. P. Salo, E. I. Gaál, O. 

Tynninen, M. Niemelä, A. Laakso, A. Karppinen, A. Paetau, 

H. Mäenpää, J. Hernesniemi, M. Perola. 

1254W Characterization of a small cell prostate cancer 

using exome sequencing. A. F. Scott, D. W. Mohr, H. 

Ling, G. S. Liptak. 

1255T Profiling mutations in circulating tumor cells 

from breast cancer patients by targeted sequencing. Y. 

Shen, X. Xu, W. DeWitt, N. Xu, F. Z. Bischoff, K. D. Crew, 

D. L. Hershman, M. A. Maurer, R. Parsons, K. Kalinsky. 


POSTER SESSIONS


1256F Exome and whole genome mutational landscape 

in pancreatic ductal adenocarcinoma. L. Timms, A. 

Panchal, L. Mullen, J. Johns, R. Denroche, R. De Borja, 

F. Yousif, Z. Zha, M. Sam, A. M. K. Brown, T. Beck, J. D. 

McPherson. 

1257W De novo germline mosaic BRCA1 exon deletion 

associated with bilateral breast cancer. M. Tischkowitz, 

I. Delon, A. Taylor, A. Molenda, J. Drummond, K. Oakhill, 

A. Girling, H. Liu, J. Whittaker, R. Treacy. 

1258T Single-nucleotide variant calling from lowcoverage 

single-cell sequence data using tumor 

population structure. S. Vattathil, N. Navin, P. Scheet. 

1259F Initial genomic analysis of a pure erythroid 

leukemia developing in association with hydroxyurea 

treatment for sickle cell anemia. Z. Wang, D. Darbari, Z. 

McIver, I. Maric, L. Diaw, Y. Song, P. Johansson, J. B. He, 

J. Wei, A. J. Barrett, J. Khan, J. G. Taylor. 

1260W Novel L1 and Alu retrotransposon insertions 

in cancer-related gene loci in the NCI-60 cancer cell 

lines. J. Zampella, K. Burns. 

1261T Exome sequencing approach for identification 

of causative mutations in neurofibromatosis type 

1-associated plexiform neurofibromas. A. Pemov, 

H. Li, M. Wallace, D. R. Stewart, NISC Comparative 

Sequencing Program, NHGRI, NIH Intramural Sequencing 

Center. 

1262F DICER1 RNAseIIIb domain is mutated at two 

different sites in two different lesions in the same 

patient. M. Wu, N. Sabbaghian, N. Hamel, C. Choong, A. 

Charles, W. Foulkes. 

1263W Multiplex PCR-based targeted deep 

sequencing of the comprehensive human lung cancer 

gene panel for the detection of KRAS and EGFR 

mutations. Q. Peng, R. Gardner, N. Slepushkina, V. 

Devgan. 

1264T Highly sensitive detection of rare somatic 

mutations in tissue and plasma. A. Marziali. 

1265F Integrative investigation on breast cancer by 

ER, PR and HE2-defined subgroups using mRNA 

and microRNA expression profiling and cancer 

core pathway analysis. X. Dai, S. Khan, T. Heikkinen, 

P. Heikkilä, K. Aittomäki, C. Blomqvist, D. Greco, H. 

Nevanlinna. 

1266W Novel oligoheterocycles and potential ability as 

anti-cancer therapy. S. Al-Aqeel. 

1267T Relative telomere length differs according 

to DNA extraction method. L. Boardman, K. 

Litzelman, R. Johnson, M. Devine, R. Firl, A. Johnson, 

M. Vincent, J. Cunningham, C. Engelman, S. Seo, 

R. Gangnon, D. Rider, G. Petersen, S. Thibodeau, H. 

Skinner. 

1268F Hereditary breast/ovarian cancer in Algerian 

population: Molecular analysis of BRCA1 and BRCA2 

genes. F. Cherbal, R. Bakour, S. Adane, K. Boualga, N. 

Salhi, A. Chikh, P. Maillet. 

1269W GENECAPP: Sequence-specific in vivo analysis 

of protein-DNA interactions in human cancer cell 

lines. H. Guillen Ahlers, A. Ludwig-Kubinski, S. Tian, 

C. Anderson, A. M. Greene, J. Kennedy-Darling, M. 

Levenstein, R. Knoener, M. Chesnik, M. Scalf, Y. Yuan, R. 

Cole, M. Shortreed, L. Cirillo, R. Stewart, L. M. Smith, M. 

Olivier. 

1270T Examination of UVR-induced DNA damage and 

repair and its association with apoptosis in human 

keratinocytes and fibroblasts. M. Karbaschi, M. D. 

Evans, S. Macip, M. S. Cooke. 

1271F The IRS1 rs2943641 genetic variant and the 

protection against cancer. S. Romeo, C. Maglio, J. 

Andersson Assarsson, K. Sjöholm, L. Sjöström, L. M. 

Carlsson. 

1272W Lynch syndrome: Awareness among medical 

students at a United States medical school. J. S. Taylor, 

M. K. Frey, M. Biewald, M. Worley, Jr., S. Lin, K. Holcomb. 

1273T Characterization of active chromatin signatures 

in testicular germ cell tumor cell lines. S. J. White, 

Y. van de Zwan, C. M. de Boer, F. Rossello, L. H. J. 

Looijenga, A. J. Notini. 

1274F Single nucleotide polymorphisms and cancer 

risk in individuals with Costello syndrome. B. A. 

Thompson, G. Desachy, J. Quinn, A. E. Toland, L. A. 

Weiss, K. A. Rauen. 

1275W Assessment of Individuals with BRCA1 and 

BRCA2 large genomic rearrangements in high-risk 

breast cancer and ovarian cancer families. L. Zhang, A. 

Arnold, M. Harlan, M. Robson. 

1276T Genetic background of familial colorectal 

cancer type X. T. T. Nieminen, J.-P. Mecklin, H. J. 

Järvinen, P. Peltomäki. 

1277F Development of a robust method for 

establishing B cell lines using Epstein-Barr virus. I. 

Danjoh, R. Shirota, Y. Nakamura. 

1278W Association of single nucleotide 

polymorphisms in ERa, ERb, CYP17A1 and CYP19A1 

with breast cancer risk: A case control study from 

North India. S. Chattopadhyay, S. V. S. Deo, N. K. 

Shukla, S. A. Husain. 

1279T Efficacy of Sequenom Sample ID Plus® 

SNP genotyping in identification of FFPE tumor 

samples. J. K. Miller, N. Buchner, D. Pasternack, J. D. 

McPherson. 

Statistical Genetics and Genetic 

Epidemiology 

1280W Gene-specific accelerated transcriptional 


aging in type 2 diabetes. J. Kent, M. Almeida, J. Peralta, 

H. H. H. Göring, J. Curran, M. Johnson, T. Dyer, S. 

Cole, J. Jowett, A. Comuzzie, M. Mahaney, L. Almasy, 

J. MacCluer, E. Moses, R. Duggirala, J. Blangero, S. 

Williams-Blangero. 

1281T Integrating metabolomic information in genomewide 

association studies. R. Rueedi, M. Ledda, T. Corre, 

R. Salek, V. Mooser, P. Vollenweider, G. Waeber, U. K. 

Genick, Z. Kutalik, S. Bergmann. 

1282F Application of principal components analysis 

to the investigation of expression profile data. H. H. H. 

Göring, A. R. Sanders, E. I. Drigalenko, W. Moy, J. Duan, 

J. E. Curran, M. P. Johnson, E. K. Moses, J. Blangero, P. 

V. Gejman. 

1283W Prioritization of SNPs identified in microRNAs 

and their targeted genes by integrated analysis of high 

throughput datasets. X. Chen, H. Zhao. 

1284T Cis- and trans-eQTL analysis in 5,311 unrelated 

peripheral blood samples identifies novel disease 

pathways and helps to pinpoint causal variants. 

H. Westra, T. Esko, M. J. Peters, C. Schurmann, H. 

Yaghootkar, J. Kettunen, M. W. Christiansen, R. S. N. 

Fehrmann, G. J. te Meerman, A. Hofman, F. Rivadeneira, 

E. Reinmaa, R. C. Jansen, J. Brody, S. A. Gharib, A. 

Suchy-Dicey, D. Enquobahrie, A. G. Uitterlinden, C. 

Wijmenga, B. M. Psaty, S. Ripatti, T. Frayling, A. Teumer, A. 

Metsepalu, J. B. J. van Meurs, L. Franke. 

1285F Ridge regression for genetic data: A semiautomatic 

method to guide the choice of ridge 

parameter. E. Cule, M. De Iorio. 

1286W Defining the functional significance of genes 

using natural human knockouts. J. D. Hoffman, K. O. 

Polzin, A. E. Fish, P. Mayo, N. Schnetz-Boutaud, J. L. 

Haines. 

1287T Intronic single nucleotide polymorphism 

of CALM-1 gene is significantly associated with 

osteoarthritis knee. S. Raj, R. Srivastava, D. Sanghi, S. 

Awasthi, A. Mishra. 

1288F Genetic risk factor in development and 

progression of osteoarthritis knee. R. N. Srivastava, A. 

Mishra, S. Raj, D. Sanghi. 

1289W Functional variant within vitamin D metabolism 

gene ACADSB is associated with a more severe 

disease in multiple sclerosis. M. F. George, F. B. S. 

Briggs, P. P. Ramsay, H. Quach, A. Bernstein, B. Acuna, L. 

Shen, E. Mowry, C. Schaefer, L. F. Barcellos. 

1290T Homozygous c.14576G.A variant of RNF213 

predicts early-onset and severe form of Moyamoya 

disease. S. Miyatake, N. Miyake, H. Touho, H. Doi, H. 

Saitsu, K. Shimojima, T. Yamamoto, N. Okamoto, N. 

Kawahara, Y. Kuroiwa, M. Taguri, S. Morita, Y. Matsubara, 

S. Kure, N. Matsumoto. 

1291F C-reactive protein as a prognostic marker in 

melanoma progression. S. Fang, Y. Wang, D. Sui, H. Liu, 


C. Schacherer, J. Gardner, M. Ross, J. Gershenwald, J. 

Reveille, L. Wang, Q. Wei, C. Amos, J. Lee. 

1292W TGFBR1 variant associated with constitutively 

decreased TGF-b signaling and risk for colorectal 

cancer. M. J. Pennison, N. Bellam, J. Zimmerman, Q. 

Zeng, M. Wang, M. Sadim, V. Kaklamani, N. Yi, K. Zhang, 

J. Baron, D. O. Stram, B. Pasche, CCFR Investigators, 

Colon Cancer Family Registry, National Cancer Institute. 

1293T Limited survival of MEN1 patients with 

mutations in the JunD interacting domain and 

first elements for intrafamilial correlation in MEN1 

syndrome: A study from the GTE cohort. J. Thevenon, 

A. Bourredjem, L. Faivre, A. Costa, E. Gautier, C. 

Bonithon-Kopp, A. Calender, C. Binquet, P. Goudet, 

Members of Groupe d’…tude des Tumeurs Endocrines. 

1294F Association of vitamin D receptor gene 

polymorphism and vitamin D status in knee 

osteoarthritis. D. Sanghi, R. Srivastava, S. Raj. 

1295W Association between neural genes DRD2, 

AVPR1a, and ASPM and endophenotypes of speech 

sound disorder. C. M. Stein, F. Qiu, B. Truitt, R. 

Raghavendra, P. Joseph, A. A. Avrich, R. P. Igo, Jr., J. Tag, 

L. Freebairn, H. G. Taylor, B. A. Lewis, S. K. Iyengar. 

1296T Parent-of-origin effects and gender differences 

influence age-at-onset variation in FAP ATTRV30M 

kindreds. C. Lemos, T. Coelho, A. Martins-da-Silva, J. 

Sequeiros, A. Sousa. 

1297F Genome-wide analysis of germline copy number 

aberrations and association with breast cancer 

susceptibility. Y. Sapkota, B. S. Sehrawat, S. Ghosh, P. J. 

Robson, C. E. Cass, J. R. Mackey, S. Damaraju. 

1298W Whole-genome detection of disease-associated 

deletions or homozygosity in a case-control study of 

rheumatoid arthritis. C. C. Wu, S. Shete, E. J. Jo, Y. E. 

Lu, Y. Xu, W. V. Chen, C. I. Amos. 

1299T T1D risk score modeling using dense genotypes 

in autoimmune associated genomic regions in 6,670 

cases and 9,416 controls and validation in 2,601 

affected sibpair families and 69 trio families. W.-M. 

Chen, S. Onengut-Gumuscu, P. Concannon, S. S. Rich, 

T1DGC. 

1300F Variants in/near DNER are reproducibly 

associated with type 2 diabetes in Pima Indians. Y. L. 

Muller, M. AbdusSamad, R. Hanson, W. C. Knowler, C. 

Bogardus, L. Baier. 

1301W Two multiple sclerosis risk variants from a 

large genome-wide association study are associated 

with disease progression in a population-based case 

cohort. H. Quach, M. F. George, F. B. S. Briggs, P. P. 

Ramsay, B. Acuna, L. Shen, E. Mowry, A. Bernstein, C. 

Schaefer, L. F. Barcellos. 

1302T Unraveling phenotype heterogeneity in prostate 

cancer susceptibility in Finland utilizing covariatebased 

analysis. C. D. Cropp, C. L. Simpson, T. Wahlfors, 


POSTER SESSIONS


A. George, M. P. S. Jones, U. Harper, D. Ponciano- 

Jackson, T. L. Tammela, J. Schleutker, J. E. Bailey-Wilson. 

1303F A search for genetic variants predisposing 

to radiation-induced meningioma. R. Bruchim, B. 

Oberman, R. Milgram, I. Novikov, S. Sadetzki. 

1304W Variants in one-carbon metabolism and 

blood folate, homocysteine and B12 deficiency in a 

population-based study. K. S. Crider, D. R. Maneval, N. 

F. Dowling, L. B. Bailey, G. Kaudwell, L. Hao, Z. Li, R. J. 

Berry. 

1305T Disease-associated genotype and allele sharing 

among human populations from throughout the world. 

M. M. DeAngelis, M. A. Morrison, D. J. Morgan, K. Mayne, 

R. Robinson, G. Silvestri, D. A. Schaumberg, E. E. Tsironi, 

I. K. Kim, J. Ramke, K. H. Park, L. A. Farrer. 

1306F Hidden heritability and risk prediction based 

on genome-wide association studies. N. Chatterjee, B. 

Wheeler, J. Sampson, P. Hartge, S. Chanock, J. Park. 

1307W Obesity susceptibility loci and associations 

across the pediatric body mass index distribution. S. F. 

A. Grant, H. Hakonarson, T. R. Rebbeck, J. A. Mitchell. 

1308T Large-scale genome-wide association metaanalysis 

using imputation from 2188-haplotype 

1000 Genomes reference panel identifies five novel 

susceptibility loci for BMI and additional novel sexspecific 

loci for BMI and WHR. M. Horikoshi, R. Mägi, I. 

Surakka, S. Wiltshire, A. Sarin, A. Mahajan, L. Marullo, T. 

Ferreira, S. Hägg, J. S. Ried, T. Winkler, G. Thorleifsson, 

N. Tsernikova, T. Esko, C. Willenborg, C. P. Nelson, M. 

Beekman, S. M. Willems, A. P. Morris, C. M. Lindgren, M. I. 

McCarthy, S. Ripatti, I. Prokopenko on behalf of ENGAGE 

Consortium. 

1309F A two-stage genome-wide association study to 

identify single nucleotide polymorphisms associated 

with development of erectile dysfunction following 

radiotherapy for prostate cancer. S. Kerns, R. Stock, 

N. Stone, M. Buckstein, Y. Shao, C. Campbell, L. Rath, 

R. Hixson, J. Cesaretti, M. Terk, H. Ostrer, B. Rosenstein, 

Collaboration developed under Radiogenomics 

Consortium. 

1310W Genetic variation and vitamin D sufficiency in 

the U.S. population (NHANES III). C. O. S. Neal, J. M. 

Jackson, K. S. Crider. 

1311T The genome-wide association study of 

phenotypic robustness in human: A canalization study. 

R. Li, T. D. Spector, J. B. Richards. 

1312F A genome- and phenome-wide association 

study to identify genetic variants influencing platelet 

count and volume and their pleiotropic effects. K. 

Shameer, J. C. Denny, K. Ding, D. R. Crosslin, C. G. Chute, 

P. Peissig, J. Pacheco, R. Li, M. de Andrade, M. D. Ritchie, 

D. R. Masys, R. L. Chisholm, E. B. Larson, C. A. McCarty, 

D. M. Roden, G. P. Jarvik, I. J. Kullo. 

1313W Heterogeneity in polygenic contribution to 

ischemic stroke subtypes by age at onset. M. Traylor, 

H. S. Markus, S. Bevan, M. Dichgans, R. Malik, H. Segal, 

P. M. Rothwell, C. L. Sudlow, C. M. Lewis, Wellcome Trust 

Case Control Consortium (WTCCC2). 

1314T Strategies for developing prediction models with 

increased discriminatory accuracy from genome-wide 

association studies. J. Wu, R. M. Pfeiffer, M. H. Gail. 

1315F Concurrent modeling of multiple phenotypes 

and genotypes in family data: Implications for cleft 

gene discovery. M. Govil, N. Mukhopadhyay, R. M. 

Silva, A. R. Vieira, S. M. Weinberg, K. Neiswanger, M. L. 

Marazita. 

1316W A phenome-wide association study using 

multiple National Health and Nutrition Examination 

Surveys to identify pleiotropy. M. A. Hall, A. Verma, K. 

D. Brown-Gentry, R. Goodloe, J. Boston, S. Wilson, B. 

McClellan, C. Sutcliffe, H. H. Dilks, N. B. Gillani, H. Jin, P. 

Mayo, M. Allen, N. Schnetz-Boutaud, S. A. Pendergrass, 

D. C. Crawford, M. D. Ritchie. 

1317T Genetic variants in pigmentation genes, skin 

color, and risk of skin cancer in Japanese. T. Suzuki, Y. 

Abe, J. Yoshizawa, Y. Hozumi, T. Nakamura, G. Tamiya. 

1318F Validity of the Mendelian randomization 

approach: Do the principles really hold? M. Taylor, N. J. 

Timpson, J. P. Kemp, B. St. Pourcain, D. M. Evans, S. M. 

Ring, D. A. Lawlor, G. Davey Smith. 

1319W Polygenic modeling of healthy aging. N. E. 

Wineinger, G. Atzmon, N. Barzilai, N. J. Schork. 

1320T Extended haplotype association study in 

Crohn’s disease identifies a novel Ashkenazi Jewishspecific 

missense mutation in the NF- B pathway 

gene, HEATR3. K. Y. Hui, W. Zhang, A. Gusev, N. Warner, 

G. Nuñez, I. Pe’er, I. Peter, J. H. Cho. 

1321F Association analysis of CYP2A6 polymorphism 

in SIDS. Y. Inaoka, M. Nakatome, F. Satoh, I. Hasegawa, 

M. Q. Fujita, M. Osawa. 

1322W Do severity of early lung disease and meconium 

ileus in cystic fibrosis have common genetic 

contributors? W. Li, D. Su, T. Chiang, X. Li, M. R. Miller, 

K. Keenan, H. Corvol, F. A. Wright, S. Blackman, M. L. 

Drumm, G. R. Cutting, M. R. Knowles, P. R. Durie, J. M. 

Rommens, L. Sun, L. J. Strug. 

1323T Influence of host genetics and environment on 

nasal carriage of Staphylococcus aureus in Danish 

middle-aged and elderly twins. P. S. Andersen, J. K. 

Pedersen, P. Fode, R. L. Skov, V. G. Fowler, Jr., M. Stegger, 

K. Christensen. 

1324F Polygenes and estimated heritability of prostate 

cancer in an African American sample using GWAS 

data. J. He, G. Chen, B. Henderson, C. Haiman, D. Stram, 

Genome-Wide Association Studies of Prostate Cancer in 

African Americans. 

1325W Using identity-by-descent information to detect 


de novo and recent mutations in population-based 

exome-sequencing studies. N. Solovieff, M. Fromer, D. 

Ruderfer, J. Moran, K. Chambert, C. Hultman, P. Sullivan, 

H. Williams, E. Rees, P. Gormley, A. Palotie, G. Kirov, M. 

Owen, M. O’Donovan, P. Sklar, S. McCarroll, S. Purcell. 

1326T Mitochondrial DNA polymorphism 13704 (C/T) 

might induce hematologic malignancy predisposition 

in Turkish population. N. Duzkale, A. Tatar. 

1327F Significant association of LPL polymorphisms 

with HDL- cholesterol level in Tongan adults. I. Naka, R. 

Kimura, T. Inaoka, Y. Matsumura, J. Ohashi. 

1328W Personalized risk prediction for prostate cancer 

according to specific family history. L. Cannon-Albright, 

F. Albright, W. Lowrance, R. Stephenson. 

1329T Estimating disease risk from environmental 

and genetic factors to motivate behavioral changes. 

C. M. Lewis, J. M. Yarnall, G. H. M. Goddard, D. J. M. 

Crouch. 

1330F Improving celiac disease risk prediction by 

testing non-HLA variants additional to HLA variants. 

J. Romanos, A. Rosen, V. Kumar, G. Trynka, L. Franke, 

A. Szperl, J. Gutierrez-Achury, C. C. van Diemen, 

R. Kanninga, S. A. Jankipersadsing, A. K. Steck, G. 

Eisenbarth, D. A. van Heel, B. Cukrowska, V. Bruno, M. C. 

Mazzilli, C. Nunez, J. R. Bilbao, M. L. Mearin, D. Barisani, 

M. Rewers, J. Norris, A. Ivarsson, H. M. Boezen, E. Liu, C. 

Wijmenga, PreventCD Group. 

1331W Bayesian polygenic prediction of myocardial 

infarction risk and lipid levels. B. Vilhjalmsson, R. Do, 

E. A. Stahl, B. Pasaniuc, S. Pollack, N. Zaitlen, J. Yang, 

M. E. Goddard, P. M. Visscher, P. Kraft, N. Patterson, S. 

Kathiresan, A. L. Price. 

1332T Testing for the presence of liability models. C. 

Herold, T. Vaitsiakhovich, T. Becker. 

1333F Alcohol and aldehyde dehydrogenase 

polymorphisms and blood pressure elevation in 

Japanese over 20 years. M. Isomura, T. Wang, Y. 

Yoshida, T. Nabika. 

1334W The PPP6R3/LRP5 locus influences lean 

mass in children of different ethnic background 

and highlights pleiotropic effects on muscle-bone 

interactions. M. C. Medina Gomez, D. H. M. Heppe, K. 

Estrada, J. Van Meurs, A. Hofman, Y.-H. Hsu, D. Karasik, 

V. W. V. Jaddoe, M. C. Zillikens, A. G. Uitterlinden, F. 

Rivadeneira, GEFOS Consortium. 

1335T Examining the interaction effect of SNPs 

associated with urinary bladder cancer. H. Schwender, 

S. Selinski, T. Stöcker, M. Blaszkewicz, R. Marchan, K. 

Ickstadt, K. Golka, J. Hengstler. 

1336F Multivariate modeling for a more powerful 

genetic association analysis. S. Eyheramendy, C. Meza. 

1337W Random-effects model for massive meta 

analysis in genome-wide association study with 


structured populations. E. Kang, N. Furlotte, B. Han, J. 

Joo, R. Davis, A. Lusis, E. Eskin. 

1338T Comparison of rare variant tests. J. Lihm, E. J. 

Yoon, H. Wu, T. Harris, C. Wong, J. Ceris, J. Weisburd, N. 

R. Mendell, W. Kim, K. Ahn, D. Gordon, S. J. Finch. 

1339F Artificial intelligence analysis of prostate cancer 

susceptibility using a pareto-optimized computational 

evolution system. J. H. Moore, D. P. Hill, A. Sulovari, L. 

Kidd. 

1340W A simple Bayesian method for modeling effect 

heterogenity across genetic studies. C. C. A. Spencer, 

P. J. Donnelly, M. Pirinen. 

1341T Effectively identifying and characterizing eQTLs 

from multiple tissues using a meta-analytic approach. 

J. Sul, B. Han, C. Ye, T. Choi, E. Eskin. 

1342F PEDF gene polymorphism (p.Met72Thr) analysis 

in diabetic retinopathy cases. S. Passan, V. Vanita. 

1343W Chromosome 10 gene may be associated to 

response to Leishmania antigens. L. Pereira, J. Pescarini, 

R. Ferreira, L. M. Camargo, H. Krieger, L. M. Garrido. 

1344T Genetic associations with essential amino acids 

in infants with patent ductus arteriosus. K. K. Ryckman, 

J. M. Dagle, O. A. Shchelochkov, S. L. Berberich, J. C. 

Murray. 

1345F Low frequency SNPs are associated with 

congenital and severe clinical phenotypes in an 

eectronic medical record. J. D. Mosley, D. M. Roden, J. 

D. Denny. 

1346W Rare variant testing for meta-analysis and 

survival analysis. H. Chen, T. Lumley, J. Dupuis, J. Brody, 

A. Morrison, B. Cornes, D. J. Lybarger, B. Davis, C. Sitlani, 

D. Siscovick, J. B. Meigs, L. A. Cupples. 

1347T Selection of sequence variants for quantitative 

traits using penalized regression: Using LASSO, LARS 

and elastic net in the tiled regression framework. Y. 

Kim, B. Suktitipat, A. J. M. Sorant, A. F. Wilson. 

1348F Identification of genome-wide SNPs that are 

informative for individual genetic heritage in the family 

investigation of nephropathy and diabetes. R. C. 

Williams, FIND Research Group. 

1349W Testing copy number variant/trait associations 

detected using Manhattan plots. G. A. Satten, D. 

Ramachandran, J. G. Mulle, A. S. Allen, L. J. H. Bean, C. 

Maslen, S. L. Sherman, R. H. Reeves, M. E. Zwick. 

1350T A novel collapsing method for rare copy number 

variants. J. P. Szatkiewicz, P. F. Sullivan, J. Y. Tzeng. 

1351F A pseudo-score-based meta-analysis in genetic 

association studies: Application to Mayo Genome 

Consortia data. E. Ryu, R. E. Gullerud, P. A. Decker, J. 

Pathak, P. J. Limburg, S. J. Bielinski. 


POSTER SESSIONS


1352W Diacylglycerol kinase K variants impact 

hypospadias in a California study population. S. L. 

Carmichael, N. Mohammed, C. Ma, D. Iovannisci, S. 

Choudhry, L. S. Baskin, J. S. Witte, G. M. Shaw, E. J. 

Lammer. 

1353T GEEWAS: Family-based genome-wide 

association studies for non-normal responses. C. 

Ekstrom. 

1354F An multiple testing procedure for association 

studies appropriately incorporating admixture signals. 

G. Gao, W. Chen. 

1355W Correcting for population structure due to rare 

and common variants with an approximate Bayesian 

regression framework. G. E. Hoffman, J. G. Mezey. 

1356T Unified association analysis of genes, regions 

or pathways containing multiple SNPs. L. C. Lazzeroni, 

A. Ray. 

1357F Genome-wide association study on the variation 

of quantitative trait as a tool to identify important 

genetic variants for related complex diseases: An 

example of CHD risk in T2D patients. Z. Liu, Q. Qi, F. Hu, 

L. Qi, L. Liang. 

1358W Power and sample size calculations for genetic 

association tests in the presence of pleiotropy. D. 

Londono, D. Gordon. 

1359T Using regression residuals to map association 

between genetic variants and environmentally 

influenced longitudinal phenotypes. A. Musolf, D. 

Londono, R. Wang, J. Brandon, J. A. Herring, C. A. Wise, 

H. Zou, M. Jin, L. Yu, S. J. Finch, T. C. Matise, D. Gordon. 

1360F Enabling mixed model association analysis 

for large case-control studies. A. Price, N. Zaitlen, B. 

Vilhjalmsson, T. Hayeck, S. Pollack, J. Yang, G. B. Chen, 

M. Goddard, P. Visscher, N. Patterson. 

1361W Accounting for parent-of-origin effects 

detects association between 4q35 genetic variants 

and combined asthma-plus-rhinitis phenotype. C. 

Sarnowski, G. Malerba, Q. Vincent, C. Laprise, K. Rohde, 

M. F. Moffatt, P. Margaritte-Jeannin, M.-H. Dizier, P. F. 

Pignatti, W. O. C. Cookson, M. Lathrop, F. Demenais, E. 

Bouzigon, EGEA Collaborative Group. 

1362T Evaluation of classical multivariate methods for 

gene-based tests of association with multiple related 

traits. Y. Shu, R. Watanabe, J. Lewinger. 

1363F A two-stage random forest approach to 

identify genetic variants using recombination hotspot 

information. S. Szymczak, Q. Li, Y. Kim, A. Dasgupta, J. 

D. Malley, J. E. Bailey-Wilson. 

1364W Effect size distribution for prioritizing results of 

association studies. D. Zaykin, C.-L. Kuo. 

1365T Modeling multivariate and correlated data in 

genetic association analysis. J. H. Zhao, F. Xue, Q. Tan, 

S. Li, J. A. Luan. 

1366F A novel spatial mapping method identifies 

shared genetic effects across immune-mediated 

diseases. C. Cotsapas, J. Kasvin-Felton. 

1367W Adjust local ancestry to detect rare variants in 

next-generation sequencing data. X. Wang, X. Zhao. 

1368T Detecting association for low-frequency variants 

in case-control studies. C. Xing, C. Y. Lin. 

1369F The empirical assessment of statistical power of 

rare variant association methods. K. Hao, H. Chen, H. 

Zhou, Z. Kan, H. Zheng, X. Liu, S. Li, T. Barber, Z. Gong, 

H. Gao, M. Willard, J. Xu, R. Hauptschein, P. Rejto, G. 

Wang, Q. Zhang, R. Cheng, K. Sung, Z. Peng, C. Zhang, 

Q. Zhang, R. Poon, S. Fan, J. Wang, J. Hardwick, C. 

Reinhard, Y. Li, J. Luk, M. Mao, H. Dai. 

1370W Rare variant burden tests and meta-analysis 

using summary level statistics. D. Liu, G. Abecasis. 

1371T A geometric framework for the evaluation of 

rare variant tests of association. N. Tintle, K. Liu, S. 

Fast, M. Zawistowski. 

1372F Subset-based approach to combined genetic 

association analysis of heterogeneous phenotypes. S. 

Bhattacharjee, S. M. Boca, P. Rajaraman, K. B. Jacobs, 

W. A. Wheeler, B. S. Melin, P. Hartge, M. Yeager, C. 

C. Chung, S. J. Chanock, N. Chatterjee, GliomaScan 

Consortium. 

1373W Genome-wide significance thresholds for SNPs 

ascertained by sequencing. T. Blackwell, A. K. Manning, 

GoT2D Investigators. 

1374T On the analysis of imputed genotypes in familybased 

association studies. A. Cobat, A. Alcaïs, E. Schurr. 

1375F Sex-specific and X-chromosome association 

studies of venous thromboembolism. M. de Andrade, S. 

M. Armasu, L. L. Chan, J. A. Heit. 

1376W Correcting for the effect of cryptic relatedness 

and population structure among cohorts in metaanalysis 

of GWAS. T. Feng, N. Morris, X. Zhu. 

1377T Genome-wide association study-identified 

genetic variants for lipid traits are associated with 

gallstone disease in the diverse Third National Health 

and Nutrition Examination Survey. R. Goodloe, K. 

Brown-Gentry, N. Gillani, H. Jin, P. Mayo, M. Allen, B. 

McClellan, J. Boston, C. Sutcliffe, N. Schnetz-Boutaud, H. 

Dilks, D. Crawford. 

1378F A unified framework for testing for genetic 

associations integrating environmental exposures. S. 

S. Han, P. S. Rosenberg, N. Chatterjee. 

1379W Efficient association analysis for groups of 

genetic markers that avoids confounding by genetic 

structure. D. Heckerman, C. Lippert, J. Listgarten. 


1380T A non-threshold region-specific method for 

detecting rare variants in common diseases. A. R. 

Hsieh, C. C. Chang, C. S. J. Fann. 

1381F Joint admixture and association test on African 

American inflammatory bowel disease identifies 

novel significant loci. C. Huang, S. Kugathasan, D. P. 

McGovern, J. H. Cho, R. H. Duerr, J. D. Rioux, M. S. 

Silverberg, T. Dassopoulos, L. W. Datta, L. W. H. Kao, S. 

R. Brant. 

1382W Comparison of phylogenetic and haplotype 

methods for the study of genotype/phenotype 

association in genome-wide studies. M. G. Johnson, D. 

L. Swofford, M. W. Lutz, D. G. Crenshaw, A. D. Roses. 

1383T Benefits of using local whole exome reference 

panels for the imputation of rare variants in two 

European populations. P. Joshi, R. M. Fraser, V. Vitart, C. 

Hayward, R. McQuillan, O. Polasek, S. H. Wild, N. Hastie, 

A. F. Wright, H. Campbell, I. Rudan, C. Haley, P. Navarro, 

J. F. Wilson. 

1384F Combined linkage and association analyses 

identify a novel locus for obesity near PROX1 in Asians. 

H. Kim, Y. Yoo, Y. Ju, S. Lee, S. Cho, J. Sung, J. Kim, J. 

Seo. 

1385W A more powerful burden tests to detect rare 

genetic variants. J. Kim, J. Lee, S. Choi, M. S. Kwon, 

T. Park. 

1386T Efficiently identifying significant associations in 

genome-wide association studies. E. Kostem, E. Eskin. 

1387F A multi-SNP locus-association method reveals 

a substantial fraction of the missing heritability. Z. 

Kutalik, G. Ehret, D. Lamparter, C. Hoggart, J. Whittaker, J. 

S. Beckmann, GIANT Consortium. 

1388W Leveraging input and output structures for joint 

association mapping of epistatic and marginal eQTLs. 

S. Lee, E. Xing. 

1389T Evaluating the power of single variant 

association tests for low frequency variants in joint 

and meta-analysis. C. Ma, T. Blackwell, M. Boehnke, L. J. 

Scott, GoT2D Investigators. 

1390F One thousand genomes imputation in the NCI 

Breast and Prostate Cancer Cohort Consortium (BPC3) 

aggressive prostate cancer genome-wide association 

study. M. J. Machiela, C. Chen, L. Liang, W. R. Diver, V. L. 

Stevens, K. K. Tsilidis, S. J. Chanock, D. J. Hunter, P. Kraft, 

NCI Breast and Prostate Cancer Cohort Consortium. 

1391W SHAVE—Shrinkage estimator measured for 

multiple visits increases power in GWAS of quantitative 

traits. O. Meirelles, J. Ding, T. Tanaka, S. Sanna, H. Yang, 

D. B. Dudekula, F. Cucca, L. Ferrucci, G. Abecasis, D. 

Schlessinger. 

1392T To adjust or not to adjust, how and when to 

incorporate covariates into GWA studies. G. P. Page, N. 

Garge, E. O. Johnson. 


1393F Refining association mapping in a 

heterogeneous population: An example in a 

schizophrenia case-control study. A. Ray, L. C. 

Lazzeroni. 

1394W Improved heritability estimation from genomewide 

SNP data with application to epilepsy. D. Speed, 

G. Hemani, M. Johnson, D. Balding. 

1395T GLOMS: A mixed model-score test-based 

system for association studies of binary traits with 

risk covariates in populations of related individuals. S. 

Stanhope, M. Abney. 

1396F Tiled regression improves the false discovery 

rate in genome-wide association studies. B. Suktitipat, 

Y. Kim, A. J. M. Sorant, H. Sung, A. F. Wilson. 

1397W Gene-based association tests using dimension 

reduction methods and marker correlation structure. 

D. M. Swanson, C. Lange. 

1398T Impact of hidden sample structure on meta- and 

joint-analysis in genome-wide association studies. P. J. 

Walter, H. M. Kang. 

1399F Natural and orthogonal association framework 

to detect parent-of-origin effects. F. Xiao, J. Ma, C. 

Amos. 

1400W Efficient calculation for multi-SNP genetic risk 

scores. T. Johnson. 

1401T Gene-gene co-association and pathwaybased 

co-association studies for next-generation 

sequencing. L. Luo, M. Xiong. 

1402F May consanguinity between parents be a risk 

factor for insulin resistance in childhood obesity? 

Role of mitochondrial uncoupling protein 2 gene 

polymorphism. S. Oguzkan Balci, N. Col-Araz, M. Nacak, 

M. Araz, S. Halime, A. Balat, S. Pehlivan. 

1403W A gene-based association statistic for metaanalysis. 

P. Chanda, H. Huang, A. Alonso, J. S. Bader, D. 

E. Arking. 

1404T Joint testing of rare and common variants in 

admixed populations. H. Qin, J. Li, H.-W. Deng. 

1405F The role of KIR genes polymorphisms in 

Brazilian patients with rheumatoid arthritis and 

systemic lupus erythematosus. A. R. Marrero, T. D. J. 

Farias, C. C. Coêlho, L. D. Hausmann, D. G. Augusto, M. 

L. Petzl-Erler, I. A. Pereira, A. F. Zimmermann, S. C. M. S. 

Fialho, Y. C. N. Muniz, I. R. Souza. 

1406W Genome-wide linkage, association and gene 

expression analysis of antibody levels against 13 

common infections. R. Rubicz, R. Yolken, E. Drigalenko, 

M. A. Carless, T. D. Dyer, P. E. Melton, J. W. Kent, Jr., 

R. Duggirala, J. E. Curran, M. P. Johnson, S. A. Cole, 

L. Almasy, E. K. Moses, N. V. Dhurandhar, E. Kraig, J. 

Blangero, C. T. Leach, H. H. H. Goring. 


POSTER SESSIONS


1407T Combining affected families, independent 

cases, and controls to obtain a single, more powerful 

test of association. W. Stewart, J. Cerise. 

1408F Mixture modeling of rare variant association 

within exome sequencing data. B. A. Logsdon, J. Y. 

Dai, P. L. Auer, S. K. Ganesh, N. L. Smith, J. G. Wilson, 

T. A. Graubert, R. P. Tracy, L. A. Lange, H. Tang, S. Rich, 

G. Lettre, C. S. Carlson, R. Jackson, C. O’Donnell, M. 

M. Wurfel, D. A. Nickerson, C. Kooperberg, A. P. Reiner, 

NHLBI Exome Sequencing Project, Exome Sequencing 

Project Blood Counts Project Team. 

1409W Detecting association of rare variants by 

testing an optimally weighted combination of 

variants in family-based designs. Q. Sha, S. Fang, S. 

Zhang. 

1410T Haplotype-based methods for detecting 

uncommon causal variants with common SNPs. N. Liu, 

W. Lin, N. Yi, D. Zhi, K. Zhang, G. Gao, H. Tiwari. 

1411F Multivariate adjusted sequence kernel 

association test for rare variants controlling for cryptic 

and family relatedness. K. Oualkacha, R. Li, B. Richards, 

A. Ciampi, C. Greenwood, UK10K Cohorts Goup. 

1412W Robust and powerful tests for rare variants 

using Fisher’s method to combine evidence of 

association from two or more complementary tests. A. 

Derkach, J. F. Lawless, L. Sun. 

1413T Leveraging family history in genome-wide 

association studies. A. Ghosh, S. Wacholder, P. Hartge, 

M. Purdue, S. Chanock, N. Chatterjee. 

1414F Identifying environmental exposures for geneenvironment 

investigations using LASSO penalized 

regression methods. E. Mowry, X. Shao, F. B. S. Briggs, 

B. Acuna, L. Shen, A. Bernstein, C. Schaefer, L. F. 

Barcellos. 

1415W Application of targeted maximum likelihood 

estimation using genome-wide association data 

reveals new genetic predictors of disease severity in 

multiple sclerosis. X. Shao, M. van der Laan, F. Briggs, 

P. De Jager, L. Barcellos, International Multiple Sclerosis 

Genetics Consortium. 

1416T Case-sibling studies that acknowledge 

unstudied parents and enroll unmatched individuals. 

M. Shi, D. M. Umbach, C. R. Weinberg. 

1417F A variable-selection-based novel statistical 

approach to identify susceptible rare variants 

associated with complex diseases with deep 

sequencing data. H. Sun, S. Wang. 

1418W Causal-Seek: A strategy for finding causal 

variants via trans-ethnic fine-mapping. X. Wang, Y. Teo. 

1419T Novel insights into the genetics of Parkinson’s 

disease on chromosome 17. W. W. S. Lau. 

1420F Joint statistical modeling of multiple phenotypes 

in samples with related individuals. Z. Wang. 

1421W Association of three polymorphisms of IL-18 

genes (137G/C, 607C/A,133C/G) in patients with 

allergic rhinitis in the Iranian population. S. Ramazi, 

M. Motovalibashi, H. Khazraei, M. Hashemzadeh 

Chaleshtori. 

1422T Accounting for population stratification in DNA 

methylation studies. R. T. Barfield, L. M. Almli, V. Kilaru, 

A. K. Smith, K. B. Mercer, T. Klengel, D. Mehta, E. B. 

Binder, K. J. Ressler, K. N. Conneely. 

1423F Genetic case-control matching strategies for 

rare-variants analysis in genome-wide association 

studies. A. Lacour, T. Becker. 

1424W Ancestry informative principal components 

analysis in structured samples with known or cryptic 

relatedness. T. Thornton, M. Conomos. 

1425T Admixture and association mapping identifies 

marker in FAM19A2 associated with FEV 1 /FVC in 

African Americans. M. M. Parker, M. G. Foreman, R. A. 

Mathias, T. H. Beaty, C. R. Gignoux, E. G. Burchard, J. 

B. Hetmanski, E. K. Silverman, J. D. Crapo, COPDGene 

Investigators. 

1426F The gamma method for gene set analysis of 

RNA-seq data: Simulation results and application to a 

smallpox vaccine study. B. L. Fridley, G. D. Jenkins, D. 

E. Grill, J. M. Biernacka, R. B. Kennedy, G. A. Poland, A. 

L. Oberg. 

1427W Evaluation of SNP and indel imputation quality 

using reference haplotypes from the 1000 Genomes 

Project. Q. Duan, E. Y. Liu, K. L. Mohlke, D. C. Croteau- 

Chonka, Y. Li. 

1428T An efficient design to detect transplant donor 

and recipient genetic interactions. W. Guan, A. K. Israni. 

1429F Dissecting features of causal variants. S. 

Sengupta, X. Wen, G. Abecasis. 

1430W Genetic programming for detecting interactions 

of SNPs with fuzzy genotypes in association studies. T. 

Stöcker, H. Schwender. 

1431T Rare variant analysis for family-based design. W. 

Yip, G. De, I. Ionita-Lazza, N. Laird. 

1432F BMI trajectory from early childhood associates 

with leukocyte telomere length in Northern Finnish 

women. S. Das, J. L. Buxton, A. Rodriguez, A. Couto, M. 

Kaakinen, S. Sebert, P. O’Reilly, L. Coin, A. I. F. Blakemore, 

M.-R. Jarvelin. 

1433W A model for combining data on de novo 

mutations with case-control data to identify risk 

genes. X. He, S. Sanders, L. Liu, M. State, B. Devlin, K. 

Roeder. 

1434T Variable selection in high-dimensional meta- 


analysis for genetic data. Q. He, H. Zhang, D. Y. Lin, C. 

L. Avery. 

1435F Integrative approaches for genetic association 

studies via Bayesian model uncertainty. M. A. Quintana, 

D. V. Conti. 

1436W Meta-analysis of co-regulated subnetworks 

in transciptomics data: Towards functional marker 

profiles of human aging. E. B. van den Akker, W. M. 

Passtoors, E. W. van Zwet, J. J. Goeman, M. Hulsman, V. 

Emilsson, M. Perola, B. T. Heijmans, A. B. Maier, J. N. Kok, 

P. E. Slagboom, M. J. T. Reinders, M. Beekman. 

1437T Integrative analysis of sequencing and GWAS 

data improves statistical power in detecting rare 

variants associated with complex diseases. Y. J. Hu, Y. 

Li, L. A. Lange, E. M. Lange, C. Bizon, P. L. Auer, G. Heiss, 

C. Kooperberg, N. Franceschini, U. Peters, A. P. Reiner, L. 

Hsu, S. Jiao, C. S. Carlson, K. E. North, D. Y. Lin, NHLBI 

GO Exome Sequencing Project. 

1438F Regionally-smoothed meta-analysis for GWAS 

studies. F. Begum, E. Feingold. 

1439W Phenotype mapping using Information Explorer. 

Y. Arens, J. L. Ambite, C. N. Hsu, L. Lange, S. Sharma, S. 

Voinea. 

1440T Data reduction techniques to construct new 

cellular and whole system biomarkers for aging. 

A. Brown, Z. Ding, L. Parts, D. Glass, D. Knowles, P. 

Deloukas, E. Dermitzakis, M. McCarthy, T. Spector, J. 

Winn, R. Durbin, MuTHER Consortium. 

1441F Prioritization of next-generation sequencing 

variants using data visualization. A. Bigelow, M. Meyer, 

N. J. Camp. 

1442W Integrating genome-wide gene expression 

and genotype data to predict HDL cholesterol levels 

in the Cholesterol and Pharmacogenetic Study. E. 

Holzinger, S. Dudek, A. Frase, M. Medina, R. Krauss, M. 

Ritchie. 

1443T ATOMIC : Assess genotype calling quality using 

R or Affymetrix’ genotyping console software. A. 

Ziegler, A. Schillert. 

1444F Single center experience with peripheral blood 

gene expression profiling in a large cardiovascular 

cohort. E. Burns, S. Feng, C. Haynes, K. Abramson, M. 

Chryst-Ladd, E. R. Hauser, L. K. Newby, S. G. Gregory, W. 

E. Kraus, S. H. Shah. 

1445W Best practices and joint calling of the Illumina 

HumanExome BeadChip: The CHARGE consortium. 

M. L. Grove, B. J. Cochran, T. Haritunians, J. C. Bis, 

K. D. Taylor, M. Hansen, C. J. O’Donnell, J. I. Rotter, 

E. Boerwinkle, CHARGE Exome Chip Genotyping 

Committee. 

1446T A supervised approach for filtering and 

genotyping high quality short indels from nextgeneration 

sequencing data. A. Tan, H. M. Kang. 


1447F Merging genomic data for research in the 

Electronic MEdical Records and GEnomics Network: 

Lessons learned in eMERGE. M. D. Ritchie, S. Setia, G. 

Armstrong, L. Armstrong, Y. Bradford, D. C. Crawford, D. 

R. Crosslin, M. de Andrade, K. Doheny, M. G. Hayes, G. 

Jarvik, I. J. Kullo, R. Li, T. Manolio, M. Matsumoto, C. A. 

McCarty, D. Mirel, S. Nelson, L. Olson, E. Pugh, S. Purcell, 

G. Tromp, J. L. Haines. 

1448W Detecting sample contamination. M. Flickinger, 

G. Jun, K. F. Doheny, J. Romm, K. N. Hetrick, G. R. 

Abecasis, M. Boehnke, H. M. Kang. 

1449T Regression models to ‘explain’ departure from 

Hardy-Weinberg equilibrium. D. J. Schaid, J. P. Sinnwell, 

G. D. Jenkins. 

1450F SNP genotyping is a valuable tool for assessing 

the quality of next-generation sequencing data. J. Park, 

B. Vecchio-Pagán, H. Cuppens, G. Cutting. 

1451W Imputation quality thresholds for rare and 

common variants. G. Pistis, C. Sidore, A. Mulas, M. 

Zoledziewska, R. Berutti, F. Reinier, M. F. Urru, A. Maschio, 

M. Marcelli, A. Angius, C. Jones, G. Abecasis, S. Sanna, 

F. Cucca. 

1452T Error rates for very low MAF SNPs on the 

Illumina exome array. E. W. Pugh, H. Ling, J. M. Romm, I. 

A. McMullen, J. R. Huyghe, M. Boehnke, K. F. Doheny. 

1453F An algorithm for identifying high-order genegene 

interactions from pairwise statistical epistasis 

networks. T. Hu, A. S. Andrews, M. R. Karagas, J. H. 

Moore. 

1454W Fine-mapping in a covariate-based genomewide 

linkage scan of lung cancer susceptibility. C. L. 

Simpson, T. Green, B. Doan, C. I. Amos, S. M. Pinney, E. 

Y. Kupert, M. de Andrade, P. Yang, A. G. Schwartz, P. R. 

Fain, A. Gazdar, J. Minna, J. S. Wiest, H. Rothschild, D. 

Mandal, M. You, T. A. Coons, C. Gaba, M. W. Anderson, J. 

E. Bailey-Wilson. 

1455T Meta-analysis of 2,526 individuals demonstrates 

strong evidence for gene-environment interaction 

between NAT1 and tobacco smoke exposure in 

multiple sclerosis. F. B. S. Briggs, B. Acuna, L. Shen, P. 

Ramsay, H. Quach, A. Bernstein, I. Kockum, L. Alfredsson, 

T. Olsson, C. Schaefer, L. F. Barcellos. 

1456F Algebraic satistics and Markov bases in geneenvironment 

interactions. M. Rao, S. Venkatesan. 

1457W AprioriGWAS, a frequent itemset mining 

approach, detects angiogenesis gene interacting with 

CFH in age-related macular degeneration. Q. Zhang, 

Q. Long. 

1458T Genotype-by-environment interaction for 

multivariate environments using the Mahalanobis 

distance. V. P. Diego, H. H. H. Göring, J. Blangero. 

1459F Interactions between maternal genotypes 

and metabolites are associated with incidence of 


POSTER SESSIONS


congenital heart defects. S. Erickson, S. Chowdhury, S. 

L. MacLeod, M. A. Cleves, S. Melnyk, S. J. James, P. Hu, 

C. A. Hobbs. 

1460W A unified generalized multifactor reduction 

method for detecting gene-gene interactions in family 

and unrelated samples with application to nicotine 

dependence. X. Lou, G. Chen, N. Liu, Y. Klimentidis, X. 

Zhu, D. Zhi, X. Wang. 

1461T The 5p15 locus is associated with bronchial 

hyperresponsiveness in siblings unexposed to tobacco 

smoke in early life in French families ascertained 

through asthma. R. Nadif, P. Margaritte-Jeannin, E. 

Bouzigon, F. Kauffmann, M. Lathrop, F. Demenais, M.-H. 

Dizier. 

1462F Systematic identification of interaction effects 

between genome- and environment-wide associations 

in type 2 diabetes mellitus. C. J. Patel, R. Chen, K. 

Kodama, J. P. A. Ioannidis, A. J. Butte. 

1463W A new Bayesian framework for detecting geneenvironment 

interaction. X. Wen, M. Stephens, P. Zheng. 

1464T Overlapping G x G interactions associated with 

caries in permanent and primary dentition. K. Cuenco, 

M. K. Lee, Z. Zeng, J. R. Shaffer, X. Wang, E. Feingold, 

D. E. Weeks, S. M. Levy, R. J. Weyant, R. J. Crout, D. W. 

McNeil, M. L. Marazita. 

1465F Associations and interactions of genetic 

polymorphisms in innate immunity genes with early 

viral infections and susceptibility to asthma and 

asthma-related phenotypes. D. Daley, J. E. Park, J. He, 

J. Yan, L. Akhabir, D. Stefanowicz, A. B. Becker, M. Chan- 

Yeung, Y. Bossé, A. L. Kozyrskyj, A. L. James, A. W. Musk, 

C. Laprise, R. G. Hegele, P. D. Paré, A. J. Sandford. 

1466W Evidence for genetic interactions beyond 

variability explained by single SNPs in ulcerative 

colitis. M. H. Wang, X. Zhu, R. H. Duerr, C. Fiocchi, J. P. 

Achkar, Wellcome Trust Case Control Consortium. 

1467T Influence of SNPxSNP interaction on BMI in 

European American adolescents: Findings from the 

National Longitudinal Study of Adolescent Health. K. 

L. Young, M. Graff, K. E. North, A. S. Richardson, L. A. 

Lange, E. M. Lange, K. M. Harris, P. Gordon-Larsen. 

1468F Analyzing genome-wide SNP interactions using 

the Random Forest Fishing method. W. Yang, J. Chu, 

C. C. Gu. 

1469W Hunting for rare genetic variants in a complex 

disease? Do not forget about gene-environment 

interactions! R. Kazma, J. Witte. 

1470T Searching for an enrichment of genetic 

interaction signals in SNPs within known proteinprotein 

interactions. J. E. Mollon, B. Lehne, S. Sacks, T. 

Schlitt, M. E. Weale. 

1471F RAPID detection of gene-gene interactions 

underlying quantitative traits. N. Udpa, V. Bafna. 

1472W Evidence of gene-environment interaction for 

the chromosome 4 and environmental tobacco smoke 

in controlling the risk of cleft lip with/without cleft 

palate. T. Wu, I. Ruczinski, J. C. Murray, M. L. Marazita, 

R. G. Munger, J. B. Hetmanski, T. Murray, R. J. Redett, M. 

D. Fallin, K. Y. Liang, P. J. Patel, S. C. Jin, T. X. Zhang, H. 

Schwender, Y. H. Wu-Chou, P. K. Chen, S. S. Chong, F. 

Cheah, V. Yeow, X. Ye, H. Wang, S. Huang, E. W. Jabs, B. 

Shi, A. J. Wilcox, R. T. Lie, S. H. Jee, K. Christensen, A. F. 

Scott, T. H. Beaty. 

1473T Pathway-based analysis of gene-gene 

interactions for complex diseases. J. G. Zhang, J. Li, H. 

W. Deng. 

1474F Identification of host gene-gene interaction in 

saliva flow and Streptococcus mutans using MDR. 

M. Lee, K. T. Cuenco, Z. Zeng, X. Wang, J. R. Shaffer, E. 

Feingold, D. E. Weeks, R. J. Weyant, R. J. Crout, D. W. 

McNeil, M. L. Marazita. 

1475W Meta-analysis of gene by gene interaction. R. G. 

Hoffmann, K. Yan, T. J. Hoffmann, P. Simpson. 

1476T Identification of gene-gene interactions for 

Alzheimer disease using cooperative game theory. 

B. Vardarajan, G. Jun, R. Mayeux, J. L. Haines, M. A. 

Pericak-Vance, G. Schellenberg, K. L. Lunetta, L. A. Farrer, 

Alzheimer’s Disease Genetics Consortium. 

1477F Overestimation of relatedness in admixed and 

ancestrally heterogeneous populations using method 

of moments estimation. J. Morrison. 

1478W Genome-wide patterns of identity-by-descent 

sharing in the French Canadian founder population. H. 

Gauvin, C. Moreau, J.-F. Lefebvre, H. Vézina, D. Labuda, 

M.-H. Roy-Gagnon. 

1479T Identity-by-descent-based heritability analysis 

in the Northern Finland Birth Cohort. S. R. Browning, B. 

L. Browning. 

1480F Efficient and flexible IBD mapping in genomewide 

association studies based on graph representation 

of IBD information. B. Han, E. Y. Kang, V. Ramensky, N. 

Freimer, J. Scharf, C. Mathews, D. Yu, A. Ruiz-Linares, G. 

Rouleau, N. Cox, D. Pauls, E. Eskin, TSAICG. 

1481W Optimization of sequencing studies in 

population isolates using shared ancestral haplotypes. 

D. Glodzik, P. Navarro, V. Vitart, R. McQuillan, S. Wild, H. 

Campbell, A. Wright, J. Wilson, P. McKeigue. 

1482T Novel statistical model and computational 

methods for predicting HLA alleles from dense 

genotype data. Y. Guan, Y. Shen. 

1483F Haplotype clusters of rare variants in Korean 

genomes. S. Hochreiter, G. Klambauer, G. Povysil, D.-A. 

Clevert. 

1484W Evaluation of different phasing and imputation 

strategies in an isolated population with a mixture 

of unrelated individuals and extended pedigrees. J. 


O’Connell, O. Delaneau, N. Pirastu, S. Ulivi, P. Gasparini, 

J. Marchini. 

1485T Local ancestry inference using identity by 

descent. Z. Cai, B. L. Browning, S. R. Browning. 

1486F Detection of identity by descent based on rare 

variants. G. Povysil, G. Klambauer, S. Hochreiter. 

1487W Refined IBD: A new method for detecting 

identity by descent in population samples. B. L. 

Browning, S. R. Browning. 

1488T IBD estimation with whole-genome sequence 

data. L. Han, M. Abney. 

1489F Evaluating type 1 error and power for 

association and linkage in large complex pedigrees. A. 

C. Cummings, E. Torstenson, M. F. Davis, L. N. D’Aoust, 

W. K. Scott, M. A. Pericak-Vance, W. S. Bush, J. L. Haines. 

1490W Loss-of-co-homozygosity mapping: a novel 

non-parametric linkage analysis leveraging exome 

sequencing data. Y. Okada, N. Gupta, D. Mirel, S. Gabriel, 

T. Arayssi, F. Mouassess, W. A. L. Achkar, L. A. Kazkaz, R. 

M. Plenge. 

1491T Patterns of indel variation: Comparison of 

calling methods and LD with SNPs. K. Huang, M. Ehm, 

N. Bing, Y. Liu, J. Xu, A. Slater, D. Fraser, J. Novembre, J. 

Li, M. Neison, Y. Li. 

1492F Estimating disease associations with common, 

low-risk alleles using pedigree data: Applications to 

breast cancer. D. R. Barnes, D. Barrowdale, J. Hopper, D. 

Goldgar, G. Chenevix-Trench, A. C. Antoniou, G. Mitchell, 

kConFab Investigators, AOCS Group. 

1493W Improving association tests by learning mode 

of inheritance from parental data. Z. Yu, D. Gillen, C. Li, 

M. Demetriou. 

1494T Enhanced maternal origin of the 22q11.2 

deletion in velo-cardio-facial/DiGeorge syndrome. M. 

Delio, T. Guo, D. McDonald-McGinn, E. Zackai, S. Herman, 

A. Higgins, K. Coleman, T. Wang, A. Auton, R. Shprintzen, 

B. Emanuael, B. Morrow. 

1495F Connection between heritability and polygenic 

risk score: Implications for the genetic architecture of 

complex traits. V. V. Trubetskoy, E. R. Gamazon, M. E. 

Dolan, N. J. Cox, H. K. Im. 

1496W Genetic variants in DNA repair pathway genes 

and upper aerodigestive tract cancers: Combined 

analysis of data from genome-wide association 

studies. M.-C. Babron, R. Kazma, V. Gaborieau, J. D. 

McKay, P. Brennan, A. Sarasin, S. Benhamou, INHANCE 

Consortium. 

1497T Venous thromboembolism-susceptibility 

pathways by gene set analyses. J. Heit, S. M. Armasu, J. 

P. Sinnwell, D. J. Schaid, M. de Andrade. 


1498F Genetic pathways for ADHD show association to 

hyperactive/impulsive symptoms. A. Arias Vásquez, J. 

Bralten, B. Franke, I. Waldan, S. Faraone, J. Buitelaar. 

1499W Graphical models and intervention calculus for 

causal inference of genetic epidemiology studies. P. 

Wang, L. Jin, M. Xiong. 

1500T Multi-SNP analysis of GWAS reveals important 

gene-gene interactions and gene networks implicated 

in breast cancer. L. Briollais, A. Dobra, H. Massam, H. 

Ozcelik. 

1501F Connecting genome-wide association studies 

with a biological gene interaction network to 

uncover epistasis. D. S. Himmelstein, J. S. Witte, O. G. 

Troyanskaya, C. S. Greene. 

1502W Gene-based collapsing methods may not be 

powerful for pathway-based association analysis for 

exome sequencing data. G. Wu, D. Zhi. 

1503T Gene function prediction based on 80,000 

expression samples identifies downstream effects 

of many trait-associated SNPs in an eQTL dataset 

of 5,311 samples. J. Karjalainen, H. Westra, R. S. N. 

Fehrmann, T. Esko, M. J. Peters, E. M. Festen, G. J. te 

Meerman, S. B. Felix, H. Yaghootkar, J. Kettunen, M. W. 

Christiansen, A. Hofman, F. Rivadeneira, E. Reinmaa, R. 

C. Jansen, J. Brody, S. A. Gharib, A. Suchy-Dicey, D. 

Enquobahrie, A. G. Uitterlinden, C. Wijmenga, B. M. Psaty, 

S. Ripatti, T. Frayling, A. Teumer, A. Metsepalu, J. B. J. van 

Meurs, L. Franke. 

1504F Constructing biological network using RNA-seq 

data. Y. Choi, M. Coram, H. Tang. 

1505W Network inference, integrative dynamic 

omics and personalized medicine. G. I. Mias, H. Im, E. 

Mitsunaga, R. Chen., J. Li-Pook-Than, L. Jiang, M. Snyder. 

1506T Stress-induced changes in gene interactions in 

human cells. R. Nayak, M. Kearns, V. G. Cheung. 

1507F An exploration of the use of low coverage whole 

genome sequencing datasets as additional controls 

for exome sequenced case series. D. Gurdasani, M. S. 

Sandhu, P. Kellam, P. J. Openshaw, J. K. Baillie, MOSAIC 

and GenISIS Investigators. 

1508W Genome profile-based disease risk prediction. 

P. Hu, E. Boerwinkle, L. Jin, M. Xiong. 

1509T Whole genome sequencing-based imputation: A 

comparison between the 1000 Genomes data and the 

UK10K sequencing data. J. Huang. 

1510F EPACTS : A flexible and efficient sequencebased 

genetic analysis software package. H. M. Kang, 

X. Zhan, X. Sim, C. Ma. 

1511W A Monte Carlo procedure for assessing cooccurring 

and anti-co-occurring gene mutations in 

cancer genome sequencing studies. P. Liu, X. Hua, H. 

Xu, Y. Lu. 


POSTER SESSIONS


1512T Using whole exome sequencing to identify rare 

causal variants for oral clefts in multiplex families. 

T. H. Beaty, I. Ruczinski, M. M. Parker, J. B. Hetmanski, 

P. Duggal, M. A. Taub, S. Szymczak, Q. Li, C. Cropp, H. 

Ling, E. W. Pugh, Y. H. Wu-Chou, J. E. Bailey-Wilson, M. 

L. Marazita, J. C. Murray, E. Mangold, M. M. Noethen, K. 

Ludwig, A. F. Scott. 

1513F Analyzing deep whole genome sequence 

and genotype data of .1,000 individuals from large 

Mexican-American pedigrees in the T2D-GENES 

study. G. Jun, M. Almeida, P. Cingolani, A. Wood, C. 

Fuchsberger, T. M. Teslovich, T. Dyer, M. Rivas, K. Gaulton, 

J. Maller, J. Curran, J. Grunstad, T. Blackwell, D. Lehman, 

R. Grossman, S. Lincoln, J. Laramie, M. Boehnke, M. 

McCarthy, T. Frayling, R. Sladek, R. Duggirala, J. Blangero, 

G. Abecasis. 

1514W A flexible and effective Poisson mixed model 

framework for RNA sequencing and other count data. 

X. Zhou, J. Tung, Y. Gilad, S. Mukherjee, M. Stephens. 

1515T Sequence-based analysis identifies variants 

associated with serum lipids in African Americans. 

A. Bentley, D. Shriner, A. Doumatey, J. Zhou, H. Huang, 

J. Mullikin, R. Blakesley, N. Hansen, G. Bouffard, P. 

Cherukuri, B. Maskeri, A. Young, A. Adeyemo, C. Rotimi. 

1516F Genetic factors associated with levels of 

immune cell types. M. Steri, V. Orrù, E. Fiorillo, G. Sole, 

C. Sidore, F. Virdis, M. Dei, S. Lai, A. Mulas, M. G. Piras, 

M. Lobina, M. Marongiu, M. Zoledziewska, M. Congia, F. 

Busonero, A. Maschio, M. F. Urru, M. Marcelli, R. Atzeni, D. 

Firinu, M. Valentini, W. Mentzen, S. Naitza, M. B. Whalen, 

A. Angius, C. M. Jones, D. Schlessinger, G. Abecasis, S. 

Sanna, F. Cucca. 

1517W Characterization of rare variants in melanomaassociated 

genes in melanoma-prone families without 

CDKN2A/CDK4 mutations using exome sequencing 

data. R. Yang, K. Jacobs, M. Cullen, J. Boland, L. Burdett, 

M. Malasky, M. Rotunno, M. Yeager, S. Chanock, M. 

Tucker, A. Goldstein. 

1518T Comparison of variant calling strategies for 

large-scale exome sequencing projects. J. Floyd, 

A. Hendricks, L. Crooks, K. Walter, S. McCarthy, C. 

Anderson, UK10K Consortium. 

1519F A catalogue of structural variants identified in 

disease-based whole genome sequencing. A. Kumar, 

R. D. Pearson, R. E. Handsaker, K. J. Gaulton, S. A. 

McCarroll, M. I. McCarthy, GoT2D Consortium. 

1520W On the analysis of rare, exonic variation 

amongst subjects with autism spectrum disorders and 

population controls. L. Liu, E. Boerwinkle, J. Buxbaum, 

E. Cook, Jr., B. Devlin, G. Schellenberg, J. Sutcliffe, M. 

Daly, R. Gibbs, K. Roeder, ARRA Autism Sequencing 

Consortium. 

1521T Resolving dependence between overlapping 

reads in next-generation sequencing data. Y. Lo, G. 

Abecasis, S. Zöllner. 

1522F Single point and rare variant analysis by whole 

genome sequencing in 4,000 samples in the UK10K 

cohorts project. J. L. Min, UK10K Consortium Cohorts 

Group. 

1523W A statistical framework for the evaluation of de 

novo variation in psychiatric disease. K. E. Samocha, 

B. M. Neale, M. J. Daly, ARRA Autism Sequencing 

Consortium. 

1524T Efficient two-stage analysis approach for 

complex trait association with arbitrary depth 

sequencing data. S. Yan, Y. Li. 

1525F Improving the accuracy and efficiency of 

sequencing experiments, by using previously 

sequenced genomes. X. Zhan, H. M. Kang, G. Abecasis. 

1526W Estimating and testing genetic effects for 

complex traits in sequence-based association studies 

and power comparisons. J. Zhou, N. Laird. 

1527T A unified statistical framework to correct for 

unknown population stratification, family structure and 

cryptic relatedness in the sequence-based association 

studies. Y. Zhu, J. Zhao, Y. Shugart, M. Xiong. 

1528F Genome-wide association study of primary 

tooth eruption identifies pleiotropic loci association 

with craniofacial distances. G. Fatemifar, C. Hoggart, L. 

Paternoster, J. P. Kemp, I. Prokopenko, M. Horikoshi, J. H. 

Tobias, S. Richmond, F. Geller, B. Feenstra, M. Melbye, T. 

Sørensen, A. Zhurov, A. M. Toma, S. Ring, B. S. Pourcain, 

N. J. Timpson, G. D. Smith, M. R. Jarvelin, D. M. Evans. 

1529W General framework for meta-analysis for 

sequencing association studies. S. Lee, X. Lin. 

1530T General class of family-based association tests 

for sequence data, and comparisons with populationbased 

association tests. I. Ionita-Laza, S. Lee, V. 

Makarov, J. D. Buxbaum, X. Lin. 

1531F A novel statistical approach to prioritize variants 

from deeply sequenced NGS samples using publicly 

available sequence controls. L. J. Strug, A. Derkach, T. 

Chiang, L. Addis, S. Dobbins, I. Tomlinson, R. Houlston, 

D. K. Pal. 

1532W Variable selection based weighting schemes for 

implicating rare variants in sequence data. A. E. Byrnes, 

M. Li, M. C. Wu, F. A. Wright, Y. Li. 

1533T Accurate local ancestry inference in exome 

sequence samples. Y. Hu, G. Abecasis, H. Kang. 

1534F Internal reference panel selection methods 

for genotype imputation: A novel sequencing study 

design strategy for genotyped samples. P. Zhang, N. A. 

Rosenberg, S. Zöllner. 

1535W Statistical methods for inference in population 

genetic studies with uncertain genotype data. E. Han. 


1536T On association analysis of rare variants 

under population-substructure: An approach for 

the detection of subjects that can cause bias in the 

analysis. D. Qiao, M. Mattheisen, C. Lange. 

1537F Identity-by-descent analysis of sequence data. 

S. M. Smith, S. R. Browning, B. L. Browning. 

1538W Robust similarity regression for population 

substructure in rare variant aggregation analyses. J. 

Tzeng, C. Smith. 

1539T Detecting differential expression in splice 

variants in the absence of annotated isoforms using 

RNAseq. N. J. I. Lewin-Koh, T. Bhangale, M. Huntley, J. 

Kaminker, F. Cai, M. van der Brug. 

1540F Identification of new genetics variants for T2D in 

WTCCC data using genome-wide interaction analysis 

followed by core SNP and gene determination. Z.-X. 

Zhu, Z.-H. Zhu, X. Tong, M. Liang, W.-C. Cui, M. Yang, L. 

Zhou, M. D. Li, J. Zhu. 

1541W Imputing genotypes in large pedigrees: A 

comparison between GIGI and BEAGLE. C. Y. K. 

Cheung, E. Wijsman. 

1542T A hidden Markov model for coalescent-based 

mapping of complex trait loci from sequencing data in 

large-scale case-control studies. Z. Geng, P. Scheet, S. 

Zoellner. 

1543F Genetic Simulation Resources: A website for the 

registration and discovery of genetic data simulators. 

B. Peng, B. Racine, H. Chen, L. Mechanic, L. Clarke, E. 

Gillanders, E. Feuer. 

1544W Rare-variant tests in stratified populations. M. 

Schmidt, D. Kinnamon, E. Martin. 

1545T Software pipeline to detect SNPs and call their 

genotypes. M. Trost, H. M. Kang, G. Jun, G. R. Abecasis. 

1546F Bidimensional scale analysis: A novel approach 

to genographic analysis. Q. Huang, Y. Wu, Z. Li, X. Liu, 

W. Xie. 

1547W Genotype probability distributions on complex 

pedigrees, with applications to relationship testing. M. 

Vigeland, T. Egeland. 

1548T Trait specific genetic relatedness matrices for 

heritability estimates using linear mixed models. J. 

Mefford, J. Witte. 

1549F The confounding effect of cryptic relatedness 

on cohort studies for environmental risks. K. Shibata, 

G. Tamiya, M. Ueki, T. Nakamura, H. Narimatsu, I. Kubota, 

Y. Ueno, T. Kato, H. Yamashita, A. Fukao, T. Kayama, 

Yamagata University Genomic Cohort Consortium. 

1550W Genome wide mutation-rate map for the analysis 

of recurrent de novo mutations. P. Polak, S. R. Sunyaev. 


1551T JBASE: A Bayesian mixture model for joint 

analysis of sub-phenotypes and epistasis. R. Colak, T. 

Kim, H. Kazan, P. M. Kim, A. Goldenberg. 

1552F IMProve: An R package for parallelizing 1000 

Genomes based genotype imputation, statistical 

analyses, and extraction of independent hit loci. T. A. 

Johnson, Y. Nakamura, M. Kubo, T. Tsunoda. 

1553W An automatic toolbox for genome-wide 

association analyses. J. Luan, S. J. Sharp, N. J. 

Wareham, J. H. Zhao. 

1554T Variant association tool: A pipeline to perform 

quality control and association analysis of sequence 

and exome chip data. G. Wang, B. Peng, S. M. Leal. 

1555F MaCH-Admix: Genotype imputation for admixed 

populations. E. Y. Liu, M. Li, W. Wang, Y. Li. 

1556W Two roads both taken: Walking the phenotypic 

and genotypic paths to disease gene implication. A. 

Javed, P. Ng. 

1557T Inferring highly polymorphic gene alleles using 

sequence data and SNP genotypes in the Han Chinese 

population. S. Chang, C. Fann, A. Hsieh, C. Shiu. 

1558F The design of custom-made genotyping arrays 

to study asthma in populations of African descent. 

J. Gao, Y. Hu, J. S. Lee, N. Pearson, G. Abecasis, I. 

Ruczinski, T. H. Beaty, Z. Qin, R. A. Mathias, K. C. Barnes. 

1559W Detecting rare variants for both quantitative 

and qualitative traits using pedigree data. W. Guo, Y. Y. 

Shugart. 

1560T IsoDOT detects differential RNA-isoform usage 

between two or more samples with high sensitivity and 

specificity. W. Sun. 

1561F Identification of loss of heterozygosity from 

unpaired tumor samples using next-generation 

sequencing. J. Lee, N. Pearson. 

1562W A robust and well-defined method for single 

nucleotide variant and indel detection. N. Tuzov. 

1563T DETECTANCE: Graphical software for study 

design and planning, based on evaluation of the 

detectance distributions for probands conditional on 

the phenotypes of relatives. T. Hiekkalinna, P. Norrgrann, 

J. H. Lee, K. M. Weiss, M. Perola, J. D. Terwilliger. 

1564F Genetic instrumental variable studies of the 

effects of maternal risk factors on oral clefts. G. L. 

Wehby, L. M. Moreno, P. Romitti, K. Christensen, L. 

DeRoo, A. Wilcox, R. Munger, R. Lie, J. C. Murray. 

1565W The prevalence of X-linked hypohidrotic 

ectodermal dysplasia in Denmark. M. Nguyen-Nielsen, 

S. Skovbo, D. Svaneby, L. Pedersen, J. Fryzek. 

1566T The PhenX Toolkit: Standard measures facilitate 


POSTER SESSIONS


cross-study analyses. C. M. Hamilton, W. Huggins, 

H. Pan, D. B. Hancock, J. G. Pratt, J. A. Hammond, T. 

Hendershot, D. R. Maiese, K. A. Tryka, K. Sher, K. Conway, 

M. Scott, W. R. Harlan, J. Haines, L. C. Strader, H. A. 

Junkins, E. M. Ramos. 

1567F Comparison of genome-wide association 

studies for smoking behavior between self-reported 

and biomarker measures. A. I. Stiby, N. Timpson, M. 

Hickman, D. Evans, J. Kemp, G. Davey Smith, S. Ring, B. 

St. Pourcain, J. Henderson, J. Macleod. 

1568W Design of sequencing studies in family 

samples, with application to the study of substance 

use disorders. S. Feng, S. Vrieze, B. Tarrier, J. Bragg- 

Gresham, X. Zhan, C. Sidore, M. McGue, W. Iacono, G. 

Abecasis. 

1569T Family-based designs for sequencing studies. 

D. Thomas. 

1570F From a large-scale discovery study to a 

replication study. C. Kuo, D. Zaykin. 

1571W Optimal sample selection for large-scale 

next-generation sequencing experiments. G. W. 

Beecham, R. Rajbhandary, E. R. Martin, L. S. Wang, K. 

Lunetta, R. Mayeux, J. L. Haines, L. Farrer, M. Pericak- 

Vance, G. Schellenberg, Alzheimer’s Disease Genetics 

Consortium. 

1572T Meta-analysis of ITGAM coding variant, 

rs1143679 (R77H) in systemic lupus erythematosus 

cases and controls. X. Kim-Howard, V. Pradhan, K. H. 

Chua, A. Maiti, K. Ghosh, S. Nath. 

1573F Understanding missing data in a large STR 

dataset of over 100,000 Brazilian individuals genotyped 

with PowerPlex 16 kit. V. R. C. Aguiar, R. V. Rohlfs, K. E. 

Lohmueller, A. M. Castro, F. S. V. Malta, A. C. S. Ferreira, I. 

D. Louro, R. Nielsen. 

1574W Population based study of permanent teeth 

agenesis in Japanese schoolchildren. J. Machida, T. 

Nishiyama, M. Kamamoto, S. Yamaguchi, M. Kimura, 

A. Shibata, K. Yamamoto, S. Makino, H. Miyachi, K. 

Shimozato, Y. Tokita. 

1575T Are heritability estimates of binary traits 

meaningful? P. H. Benchek, N. J. Morris. 

1576F Genetic ancestry and mammographic density 

among U.S. Caucasians. J. L. Caswell, K. Kerlikowske, 

J. Shepherd, S. R. Cummings, D. Hu, S. Huntsman, 

E. Ziv. 

1577W Robust partitioning of local heritability at 

associated GWAS loci. A. Gusev, G. Bhatia, B. Pasaniuc, 

N. Zaitlen, A. L. Price. 

1578T Multiple mediation analysis in case-control 

studies: Application to detecting joint mediating 

effects of smoking and chronic obstructive 

pulmonary disease on the association between 

CHRNA5-A3 genetic locus and lung cancer risk. J. 

Wang, S. Shete. 

1579F Bayesian-optimized linkage disequilibrium 

improves gene-based association tests. H. Huang, S. 

Zahid, P. Chanda, D. E. Arking, J. S. Bader. 

1580W Statistical models and inference methods 

for the in vivo DNA methylation process. A. Q. Fu, D. 

P. Genereux, R. Stoeger, A. F. Burden, C. D. Laird, M. 

Stephens. 

1581T A comparison of statistical methods for the 

analysis of methylome data. M. LeBlanc, B. Kulle. 

1582F Designing GWAS arrays for efficient imputationbased 

coverage. Y. Zhan, Y. Lu, T. Webster, J. Schmidt. 

1583W Does a higher BMI directly influence levels of 

physical activity in children? Mendelian randomization 

using genotypic scores. R. C. Richmond, G. Davey 

Smith, D. M. Evans, B. St. Pourcain, J. P. Kemp, A. R. 

Ness, S. M. Ring, K. Tilling, N. J. Timpson. 

Cardiovascular Genetics 

1584T Role of GATA5, FBN1 and TGFBR2 mutation in 

patients with bicuspid aortic valve. N. Abdulkareem, J. 

A. Aragon-Martin, G. Arno, V. Ramachandran, A. Child, M. 

Jahangiri. 

1585T Re-sequencing of 3699 individuals reveals novel 

low-frequency missense polymorphism in SCN10A 

associated with PR interval that alters channel 

activation. J. Brody, V. S. Macri, D. E. Arking, X. Yin, C. 

Liu, A. C. Morrison, A. Alonso, J. C. Bis, S. R. Heckbert, 

T. Lumley, C. Sitlani, L. A. Cupples, S. Pulit, C. Newton- 

Cheh, C. J. O’Donnell, E. J. Benjamin, D. Muzny, R. Gibbs, 

R. Jackson, J. W. Magnani, S. S. Rich, B. M. Psaty, E. 

Boerwinkle, P. T. Ellinor, N. Sotoodehnia, Cohorts for Heart 

and Aging Research in Genetic Epidemiology, NHLBI 


1586T A functional SNP at APLN gene confers a risk 

to arterial stiffness in Chinese women. Y. C. Liao, S. W. 

Huang, Y. S. Wang, K. C. Chen, S. H. H. Juo. 

1587T Impact of inflammatory gene polymorphisms on 

left ventricular dysfunction in coronary artery disease 

patients. A. Mishra, A. Srivastava, T. Mittal, N. Garg, B. 

Mittal. 

1588T Identification of a new chromosomal locus for a 

mutation causing left ventricular non-compaction with 

ventricular tachycardia cardiopathology. E. Muhammad, 

A. Levitas, V. Sheffield, R. Parvari. 

1589T Sequencing candidate genes associated with 

conotruncal heart defects. K. Osoegawa, M. Ladner, K. 

Schultz, C. Parodi, N. Mohammed, D. Noonan, G. Shaw, 

E. Trachtenberg, E. Lammer. 


1590T Significant association of two genetic variants in 

the ENPEP gene with lone atrial fibrillation in Koreans. 

D. Shin, H. Hwang, A. Park, N. Son, E. Shin, J. Lee, H. 

Pak, M. Lee, Y. Jang. 

1591T Molecular Investigation in sudden unexplained 

death syndromes in New York City. Y. Tang, D. Wang, L. 

Eng, K. Shah, S. Um, B. Zhou, M. Prinz, B. Sampson. 

1592T Associations of NINJ2 sequence variation with 

incident ischemic stroke: Analysis of common and rare 

variants in the Cohorts for Heart and Aging in Genomic 

Epidemiology Consortium. J. C. Bis, M. Fornage, A. L. 

DeStefano, J. Brody, M. A. Ikram, C. van Duijn, R. Gibbs, 

J. G. Reid, E. Boerwinkle, W. T. Longstreth, T. H. Mosley, 

S. Seshadri on behalf of CHARGE Neurology Working 

Group. 

1593T CCR5, TNF/LTA, CCL2, IL12B, IL10, MAL/TIRAP, 

ACTC1 genes are associated to the development of 

chronic Chagas’ disease cardiomyopathy. C. Chevillard, 

A. F. Frade, P. Teixeira, B. Ianni, C. Wide Pissetti, A. 

Fragata, M. Hirata, M. Sampaio, B. Saba, F. Dias, E. 

Donadi, V. Rodrigues Jr., A. Pereira, J. Kalil, E. Cunha- 

Neto. 

1594T Analysis of candidate genes associated 

with intermediate traits identifies novel variants 

associated with coronary artery disease presence 

and severity. D. M. Craig, E. R. Hauser, E. Burns, 

M. Chryst-Ladd, C. Haynes, W. E. Kraus, I. C. 

Siegler, B. H. Brummett, R. C. Becker, R. B. Williams, 

S. H. Shah. 

1595T The shared allelic architecture of adiponectin 

levels and coronary artery disease. Z. Dastani, T. 

Johnson, F. Kronenberg, C. Nelson, T. L. Assimes, 

W. März, J. B. Richards, CARDIoGRAM Consortium, 

ADIPOGen Consortium. 

1596T Investigation of mutations in exons 19 and 

22 MYH7 gene in HCM patients in Chaharmahal 

va Bakhtiyari Province, Iran. S. Heydari Sodjani, R. 

Pourahmad, A. Khaledifar, M. Hashemzadeh, F. Azadegan, 

N. Bagheri, S. Badfar. 

1597T Polymorphisms in CHRNA3-CHRNA5-CHRNB4 

are associated with body mass index and systolic 

blood pressure in smokers in the Northern Finland 

Birth Cohort 1966. M. Kaakinen, F. Ducci, M. J. Sillanpää, 

E. Läärä, M.-R. Järvelin. 

1598T Genetic association studies of left ventricle 

dysfunction in coronary artery disease patients. B. 

Mittal, A. Mishra, A. Srivastava, T. Mittal, N. Garg. 

1599T Associations of sequenced regions SLC17A4 

and PIK3CG with common carotid intima-media 

thickness and plaque: A common and rare variant 

meta-analysis in the Cohorts for Heart and Aging in 

Genomic Epidemiology Consortium. C. J. O’Donnell, C. 

C. White, N. Franceschini, J. Brody, D. Muzny, R. Gibbs, E. 

Boerwinkle, B. Psaty, K. E. North, L. A. Cupples, J. C. Bis 

on behalf of CHARGE Subclinical Atherosclerosis Working 

Group. 


1600T CNVs contributing to the cause of congenital 

heart defects may include not only those containing 

candidate genes but regions more commonly 

associated with autism and other disorders. 

D. Warburton, M. Ronemus, J. Kline, M. Wigler, V. 

Jobanputra, D. Levy, K. Anyane-Yeboa, W. Chung, D. 

Awad. 

1601T Whole exome sequencing and hypertrophic 

cardiomyopathy. F. Dewey, S. Cordero, M. Wheeler, A. 

Pavlovic, K. Bommakanti, S. Pan, C. Caleshu, R. Chen, M. 

Snyder, E. Ashley. 

1602T Fine mapping the SCN10A gene region 

identifies novel associations with PR interval in 

African Americans from an electronic medical record 

population. J. Jeff, M. Ritchie, J. Denny, H. Dilks, C. 

Sutcliffe, M. Basford, D. Roden, D. Crawford. 

1603T Association between 4q25 variants and 

cardioembolic stroke in the Vienna Stroke Registry. 

M. M. Luke, C. H. Tong, J. J. Catanese, J. J. Devlin, S. 

Greisenegger, C. Mannhalter. 

1604T Common genetic variants do not predict CAD 

in familial hypercholesterolemia. E. P. A. van Iperen, 

S. Sivapalaratnam, S. M. Boekholdt, G. K. Hovingh, S. 

Maiwald, M. W. Tanck, N. Soranzo, J. C. Stephens, J. G. 

Sambrook, M. Levi, W. H. Ouwehand, J. J. P. Kastelein, M. 

D. Trip, A. H. Zwinderman. 

1605T Genetic sources of variation in proprotein 

convertase subtilisin/kexin type 9, a protein that 

mediates degradation of LDL receptors and increases 

LDL levels. E. A. Rosenthal, R. Rajagopalan, J. Ranchalis, 

D. Szeto, K. Akinsanya, T. P. Roddy, J. M. Castro-Perez, 

G. Forrest, G. Wolfbauer, J. J. Albers, J. D. Brunzell, A. G. 

Motulsky, M. J. Rieder, D. A. Nickerson, E. M. Wijsman, G. 

P. Jarvik. 

1606T Twenty-three unreported genetic associations 

with lipid phenotypes: A dense gene-centric metaanalysis 

in 66,240 individuals across 32 studies. Y. Guo, 

F. W. Asselbergs, E. P. A. van Iperen, S. Sivapalaratnam, 

V. Tragante, C. Elbers, H. Hakonarson, B. J. Keating, F. 

Drenos, IBC-Lipids Consortium. 

1607T After LDLR, APOB and PCSK9, APOE is 

another major gene of autosomal dominant 

hypercholesterolemia. M. Varret, M. Marduel, K. 

Ouguerram, V. Serre, D. Bonnefont-Rousselot, K. E. Berge, 

M. Devillers, G. Luc, J.-M. Lecerf, L. Tosolini, M. Abifadel, 

T. P. Leren, J.-P. Rabès, C. Boileau. 

1608T Trans-ethnic fine-mapping of lipid loci in 

African Americans, East Asians, and Europeans 

identifies population-specific signals and extensive 

allelic heterogeneity that increases the trait variance 

explained. Y. Wu, L. Waite, A. Jackson, S. Buyske, C. 

Carty, I. Cheng, D. Duggan, L. Dumitrescu, C. Haiman, L. 

Hindorff, C. Hsiung, S. Hunt, K. Hveem, J. Juang, E. Kim, 

M. Laakso, I. Njølstad, U. Peters, R. Rauramaa, W. Sheu, 

Y. Sung, J. Tuomilehto, T. Wang, Y. Chen, C. Kooperberg, 


POSTER SESSIONS


M. Boehnke, D. Crawford, T. Assimes, K. North, K. L. 

Mohlke. 

1609T Identification of a major genetic modifier in 

mouse models of TGFb vasculopathies. J. Calderon, H. 

Dietz. 

1610T Upregulation of Twist1 expression during acute 

myocardial infarction. J. B. Nevado. 

1611T Venous malformation-causing TIE2-mutations 

lead to AKT-mediated downregulation of PDGFB. M. 

Uebelhoer, M. Nätynki, J. Kangas, J. Soblet, A. Mendola, 

C. Godfraind, L. M. Boon, L. Eklund, N. Limaye, M. 

Vikkula. 

1612T Islet1 is a direct transcriptional target of the 

homeodomain transcription factor Shox2 in the 

sinoatrial node of the developing heart. G. A. Rappold, 

I. M. Berger, A. Glaser, C. Bacon, L. Li, K. U. Schneider, N. 

Gretz, H. Steinbeisser, W. Rottbauer, S. Just, S. Hoffmann. 

1613T Analysis of sub-category for 141 cases of 

congenital heat disease that have been surgically 

corrected during neonatal period. Q.-Y. Cao, J.-Z. Zhu, 

N. Zhong. 

1614T Analysis of cardiomyopathy using whole 

genome sequencing. E. M. McNally, J. R. Golbus, 

L. L. Pesce, D. Wolfgeher, L. Dellefave-Castillo, M. J. 

Puckelwartz. 

1615T The association between NOS3 gene variations 

and Brugada syndrome. S. Mehrtashfar, A. Ebrahimi, M. 

Moghadam, A. S. Khatir. 

1616T Targeted sequence capture and 454 sequencing 

of 23 cardiomyopathy genes: Implementation into 

diagnostics. O. Mook, M. Haagmans, R. Lekanne dit 

Deprez, F. Baas, M. Jakobs, N. Hofman, I. Christiaans, M. 

Mannens. 

1617T Targeted next-generation sequencing of 

thoracic aortic aneurysmal genes. L. Van Laer, D. 

Proost, G. Vandeweyer, J. Saenen, B. Paelinck, C. Vrints, 

B. Loeys. 

1618T The use of next-generation sequencing in 

clinical diagnostics of familial hypercholesterolaemia. 

J. Vandrovcova, E. Thomas, S. Atanur, P. Norsworthy, 

C. Neuwirth, Y. Tan, L. Game, A. Soutar, T. J. Aitman, 

Generation Scotland. 

1619T Targeted next-generation sequencing as a 

diagnostic test in patients with cardiomyopathies. Y. J. 

Vos, B. Sikkema-Raddatz, L. F. Johansson, E. N. de Boer, 

L. G. Boven, K. Y. van Spaendonck-Zwarts, M. P. van den 

Berg, J. P. van Tintelen, J. D. H. Jongbloed, R. J. Sinke. 

1620T Population sampling and in vitro modeling of a 

25bp deletion in MYBPC3 associated with hypertrophic 

cardiomyopathy. A. B. Chowdry, M. A. Mandegar, G. M. 

Benton, B. T. Naughton, B. R. Conklin. 

1621T Co-localization of lipid biomarker associations 

with gene expression across human tissues. C. 

Giambartolomei, H.-J. Westra, M. Kivimaki, M. Kumari, E. 

Schadt, L. Franke, A. Hingorani, V. Plagnol. 

1622T Silencing of Atp2b1 increases blood pressure 

through vasoconstriction. B. Oh, Y.-B. Shin, S.-M. Ji, 

S.-Y. Park, H.-J. Lee, K.-W. Hong, J.-E. Lim, M. Lim, Y.-H. 

Lee. 

1623T Metabolic imprints of genetically elevated body 

mass index in young adults. P. Würtz, A. J. Kangas, P. 

Soininen, O. Raitakari, T. Lehtimäki, M. R. Järvelin, M. Ala- 

Korpela, S. Ripatti. 

1624T Mendelian randomization studies do not support 

a causal effect of plasma lipids on insulin sensitivity. T. 

Fall, W. Xie, K. Hao, J. Ärnlöv, F. Abbasi, E. E. Schadt, G. 

Boran, T. Hansen, D. Greenawalt, J. J. Nolan, O. Pedersen, 

H. Häring, E. Ferrannini, A.-C. Syvänen, T. Quertermous, 

U. Smith, T. L. Assimes, M. Laakso, M. Walker, J. W. 

Knowles, M. N. Weedon, E. Ingelsson, T. M. Frayling on 

behalf of GENESIS Consortium. 

1625T Dissecting the genetic architecture of coronary 

artery disease by genome engineering. D. J. Segal, M. 

S. Bhakta, K. ThevaDas, C. Sun, N. M. Grace, J. A. Nolta, 

A. A. Knowlton, D. M. Rocke. 

1626T Application of Mendelian randomization on 

ascorbic acid and hypertension in .11,000 participants 

from 4 independent studies. K. H. Wade, N. J. Timpson, 

N. G. Forouhi, M.-J. Brion, R. M. Harbord, D. G. Cook, P. 

Johnson, A. McConnachie, R. W. Morris, S. Rodriguez, 

Z. Ye, S. Ebrahim, S. Padmanabhan, G. Watt, K. R. 

Bruckdorfer, N. J. Wareham, P. H. Whincup, S. Chanock, 

N. Sattar, D. A. Lawlor, G. Davey Smith. 

1627T Identification of a regulatory variant that binds 

C/EBPb at the GALNT2 human high-density lipoprotein 

cholesterol locus. T. S. Roman, M. P. Fogarty, S. 

Vadlamudi, A. F. Marvelle, K. J. Gaulton, A. J. Gonzalez, Y. 

Li, K. L. Mohlke. 

1628T Maternally transmitted coronary heart disease is 

associated with the mitochondrial tRNAThr 15927G.A 

mutation. M. X. Guan. 

1629T Mitochondrial haplogroups and genomic 

ancestry showed association with heart failure in 

Brazilians. C. Fridman, M. M. S. G. Cardena, A. K. 

Ribeiro-dos-Santos, S. E. Santos, J. E. Krieger, A. C. 

Pereira. 

1630T RNAi-based functional profiling of loci from 

blood lipid genome-wide association studies. H. Runz, 

P. Blattmann, C. Schuberth, R. Pepperkok. 

1631T A fine mapping of the genetic variation 

influencing the ratio of alternatively spliced CD40 

transcripts and conferring susceptibility to Kawasaki 

disease. Y. Onouchi, K. Ozaki, M. Terai, H. Hamada, H. 

Suzuki, T. Suenaga, Y. Suzuki, K. Yasukawa, R. Ebata, 

T. Saji, Y. Kemmotsu, K. Ouchi, F. Kishi, T. Yoshikawa, T. 

Nagai, K. Hamamoto, Y. Sato, K. Sasago, A. Takahashi, M. 

Kubo, T. Tsunoda, A. Hata, Y. Nakamura, T. Tanaka. 


1632T The AA genotype of tumor necrosis factor 

induced protein 2 rs8126 polymorphism is associated 

with increased mortality in septic shock. S. A. Thair, J. 

H. Boyd, T. A. Nakada, J. A. Russell, K. R. Walley. 

1633T Significance of the NODAL p.H165R variant in 

complex cardiovascular malformations: A report of two 

lethal cases with an asymptomatic parent. Z. Ammous, 

A. Rajadhyaksha, P. Jayakar. 

1634T Parent of origin effect in HDL levels. J. S. Lilley, 

I. M. Predazzi, W. S. Bush, M. F. Linton, S. M. Williams, S. 

Fazio. 

1635T Loci on chromosomes 2q12, 6p21 and 13q14 

modulate the effect of smoking on carotid intimamedia 

thickness in whites, blacks and Hispanics. C. 

Dong, L. Wang, A. Beecham, D. Cabral, C. B. Wright, S. H. 

Blanton, T. Rundek, H. Zhao, R. L. Sacco. 

1636T A genome-wide gene-by-environment scan 

for mobile source air pollution in atherosclerosis and 

myocardial infarction identifies PIGR and HCN4. C. K. 

Ward-Caviness, L. Neas, C. Haynes, C. Blach, E. Burns, K. 

LaRocque-Abramson, E. Dowdy, W. Cascio, R. Devlin, D. 

Diaz-Sanchez, W. E. Kraus, S. H. Shah, S. G. Gregory, M. 

L. Miranda, E. R. Hauser. 

1637T Genome-wide association analysis of blood 

pressure incorporating gene-age interactions in the 

CHARGE, GBPgen, and ICBP Consortia. J. Simino, 

CHARGE, GBPgen, and ICBP Investigators. 

1638T A genome-wide association study of carotid 

intima-medial thickness, a preclinical marker of 

atherosclerosis. S. H. Blanton, A. H. Beecham, L. Wang, 

C. Dong, D. Cabral, B. I. Hudson, M. Kiryiya, F. Jasmine, 

B. Pierce, R. Demmer, A. Habibul, M. Desvarieux, R. 

Sacco, T. Rundek. 

1639T Genome-wide association analyses of long-term 

blood pressure traits. S. K. Ganesh, G. B. Ehret, A. 

Chakravarti on behalf of CHARGE-BP and ICBP Consortia. 

1640T A genome-wide association study in a Lebanese 

population identifies three new loci for coronary artery 

disease. M. Ghassibe, J. Hager, J. B. Cazier, D. Platt, Y. 

Kamatani, M. Farrall, D. Gauguier, P. Zalloua. 

1641T An assessment of association of blood pressure 

with DNA variants in the Long Life Family Study and 

other studies. A. T. Kraja, J. H. Lee, R. Straka, I. B. 

Borecki, C. Kammerer, M. A. Province. 

1642T Novel tissue-specific transcriptomic signatures 

revealed by experimental endotoxemia in healthy 

human subjects. Y. Liu, J. Feguson, I. Silverman, B. 

Gregory, M. Li, M. Reilly. 

1643T Genome-wide association study for atrial 

fibrillation in the Japanese population. K. Ozaki, Y. 

Onouchi, N. Kamatani, T. Tsunoda, M. Kubo, Y. Nakamura, 

T. Tanaka. 

1644T Cardiovascular genetics. D. Seo, Z. Liu, N. Sikka, 


P. Goldschmidt-Clermont, M. A. Pericak-Vance, G. W. 

Beecham. 

1645T Functional relationship of the COL4A1/COL4A2 

locus on chromosome 13q34 to coronary artery disease. 

A. Turner, P. Lau, S. Soubeyrand, O. Jarinova, R. McPherson. 

1646T De novo copy number variants in non-syndromic 

left ventricular outflow tract obstruction. L. A. Umana, 

N. A. Hanchard, G. A. Zender, S. M. Fitzgerald-Butt, G. 

Zapata, P. Hernandez, M. S. Azamian, D. J. Penny, J. W. 

Belmont, K. L. McBride. 

1647T Genetic association of CVD-related loci with 

lipid traits in the Heart Strategies Concentrating on 

Risk Evaluation (Heart SCORE) Study. X. B. Wang, 

S. Reis, M. M. Barmada, I. Halder, F. Y. Demirci, M. I. 

Kamboh. 

1648T Genetic analysis of vascular disease in the 

Diabetes Heart Study. A. J. Cox, M. C. Y. Ng, J. Xu, C. D. 

Langefeld, J. J. Carr, B. I. Freedman, D. W. Bowden. 

1649T SNPs associated with plasma triglyceride levels 

influence response during intensive cardiovascular risk 

reduction. D. L. Ellsworth, A. Decewicz, M. Hicks, K. A. 

Mamula, A. Burke, M. J. Haberkorn, H. L. Patney, M. N. 

Vernalis. 

1650T Sex-specific association of cadherin with high 

density-lipoprotein cholesterol in the Long Life Family 

Study. M. F. Feitosa, A. T. Kraja, J. Lee, K. Christensen, J. 

Wang, C. Kammerer, M. A. Province, I. B. Borecki. 

1651T A genome-wide association study identifies 

KNG1 as a genetic determinant of plasma factor XI 

level and activated partial thromboplastin time. J. 

M. Soria, M. Sabater-Lleal, A. Martinez-Perez, A. Buil, 

L. Folkersen, J. C. Souto, M. Bruzelius, M. Borrell, J. 

Odeberg, S. Silveira, P. Eriksson, A. Almasy, A. Hamsten. 

1652T Gene variants are associated with soft lipid-rich 

coronary plaque in African Americans with replication 

in European Americans. L. R. Yanek, B. G. Kral, D. 

Vaidya, T. F. Moy, L. C. Becker, D. M. Becker. 

1653T Genetic variation for leukocyte telomere 

length predicts incident coronary heart disease: The 

Framingham Heart Study. S. Hwang, A. Aviv, D. Levy, 

M. Mangino, S. Hunt, A. L. Fitzpatrick, J. C. Bis, E. S. 

Smith. 

1654T Genome-wide association analysis of plasma 

triglyceride in Korean population. B. Gombojav, D. H. 

Lee, M. K. Lee, Y. M. Song, K. Lee, J. Sung. 

1655T Genome-wide association study of calcific 

aortic valve disease. S. Guauque-Olarte, M. Lamontagne, 

N. Gaudreault, P. Mathieu, P. Pibarot, Y. Bossé, D. 

Messika-Zeitoun. 

1656T Genetic variants explaining sodium intake in 

a population with higher sodium intake level: The 

Healthy Twin Study, Korea. M. Kho, Y.-M. Song, K. Lee, 

J.-E. Lee, K. Kim, J. Sung. 


POSTER SESSIONS


1657T Dietary intake of saturated fatty acids 

modulates the genetic effects on triglyceride 

concentrations in a Korean genome-wide study. H. 

Lee, H. Jang, M. Go, J. Park, J. Choi, J. Park, Y. Ahn, B. 

Han, J. Lee, J. Song. 

1658T A GWAS approach in search for modifiers 

of congenital heart disease in 22q11 microdeletion 

syndrome. G. M. Repetto, C. Vial, S. McGhee, N. K. 

Henderson-MacLennan, M. L. Guzman, M. Palomares, G. 

Lay-Son, K. Espinoza, T. Guo, B. Morrow. 

1659T Novel genes related to hypertension: A genecentric 

meta-analysis with over 127,000 individuals. 

V. Tragante do O., S. K. Ganesh, W. Guo, Y. Guo, E. N. 

Smith, M. B. Lanktree, T. Johnson, B. Almoguera Castillo, 

J. Barnard, J. Baumert, A. G. Uitterlinden, P. van der Harst, 

Y. T. van der Schouw, N. J. Samani, P. B. Munroe, P. I. W. 

de Bakker, X. Zhu, D. Levy, B. Keating, F. W. Asselbergs, 

IBC BP Consortium. 

1660T Additional variance of serum lipid levels 

explained by incorporating less significant genetic 

variants and allelic heterogeneity. R. Deka, G. Zhang, 

R. Karns, G. Sun, S. R. Indugula, H. Cheng, D. Havas- 

Augustin, N. Novokmet, Z. Durakovic, S. Missoni, R. 

Chakraborty, P. Rudan. 

1661T Admixture mapping of coronary artery calcified 

plaque in African Americans with type 2 diabetes. J. 

Divers, N. D. Palmer, L. Lu, T. C. Register, J. J. Carr, P. J. 

Hicks, R. C. Hightower, S. C. Smith, J. Xu, A. J. Cox, K. 

A. Hruska, D. W. Bowden, C. E. Lewis, G. Heiss, M. A. 

Province, I. B. Borecki, K. F. Kerr, Y. D. Chen, W. Palmas, 

J. I. Rotter, C. L. Wassel, A. Bertoni, D. Herrington, L. E. 

Wagenknecht, C. D. Langefeld, B. I. Freedman. 

1662T Genome-wide association studies of NMR-based 

lipoprotein subclasses in African American populations 

elucidate subfractions affected by SNP variation. Y. 

Huang, WM. Chen, K. L. Keene, F. Chen, U. Nayak, X. Hou, I. 

J. Spruill, K. J. Hunt, J. K. Fernandes, K. H. Lok, J. Divers, J. 

C. Mychaleckyj, D. L. Kamen, W. Post, S. S. Rich, J. I. Rotter, 

G. S. Gilkeson, W. T. Garvey, M. Cushman, M. M. Sale. 

1663T Redefining fibromuscular dysplasia of the 

arteries as a TGF-b pathway disorder. R. Morissette, S. 

Ganesh, B. Griswold, L. Sloper, N. McDonnell. 

1664T Integrated microRNA and mRNA profiling of 

the mouse ventricles during development of severe 

hypertrophic cardiomyopathy and heart failure. R. D. 

Bagnall, T. Tsoutsman, R. E. Shephard, W. Ritchie, C. 

Semsarian. 

1665T Novel transcripts and pathways identified in blood 

one week following implant of continuous-flow left 

ventricular assist device. J. L. Hall, W. Guan, A. Mitchell, R. 

Staggs, S. Grindle, N. Adhikari, S. Hozayen, P. Eckman. 

1666T Activation of TLR signaling in atherosclerosis 

and ischemic stroke. C.-C. Huang, R. Sieberg, G. Feng, 

S. Wang, M. Yu. 

1667T Genetic insights into nonalcoholic fatty liver 

disease from the proteomic analysis of HDL particles. 

K. Merath, M. Zickus, R. Komorowski, J. Wallace, M. 

Goldbladtt, S. Gawrieh, M. Olivier. 

1668T Do variations in genes encoding the argonaute 

proteins confer risk or protection from cardiovascular 

disease in Europeans? I. Predazzi, W. Bush, S. Williams. 

1669T Gene expression profiling in peripheral blood cells 

in patients with myocardial infarction at young age. T. 

Zeller, C. Müller, A. Schillert, M. O. Scheinhardt, S. Szymczak, 

F. Ojeda, C. R. Sinning, R. B. Schnabel, S. Wilde, P. S. Wild, 

K. J. Lackner, T. Munzel, A. Ziegler, S. Blankenberg. 

1670T A genetic study of familial intracranial 

aneurysm in French-Canadian and Inuits through 

exome sequencing. S. Zhou, L. Xiong, C. Bourassa, M. 

Bojanowski, N. Dupré, M. Dubé, A. Dionne-Laporte, D. 

Spiegelman, E. Henrion, O. Diallo, P. Dion, G. Rouleau. 

1671T Rare variant APOC3 R19X is associated with 

cardio-protective profiles in a diverse populationbased 

survey as part of the Population Architecture 

using Genomics and Epidemiology (PAGE) Study. D. C. 

Crawford, L. Dumitrescu, R. Goodloe, K. Brown-Gentry, C. 

Sutcliffe, R. Wiseman, P. Baker, H. H. Dilks, J. Boston, B. 

McClellan, Jr., P. Mayo, M. Allen, N. Schnetz-Boutaud, J. 

L. Haines, T. I. Pollin. 

1672T Resequencing of the cholesteryl ester transfer 

protein gene (CETP) in U.S. Whites and African Blacks 

with extreme HDL-C levels. D. Pirim, F. Y. Demirci, X. 

Wang, J. E. Hokanson, R. F. Hamman, C. H. Bunker, C. M. 

Kammerer, M. M. Barmada, M. I. Kamboh. 

1673T Comprehensive evaluation of the effects of 

APOE genetic variation on plasma lipoprotein traits 

in U.S. Whites and African Blacks. Z. H. Radwan, F. 

Y. Demirci, X. Wang, F. Waqar, J. E. Hokanson, R. F. 

Hamman, C. H. Bunker, C. M. Kammerer, M. M. Barmada, 

M. I. Kamboh. 

1674T Filamin-C: A novel candidate for familial 

restrictive cardiomyopathy identified by whole-exome 

sequencing. M. Tariq, E. Miller, S. Ware. 

1675T Mutations in SMAD3 in a British cohort of 

thoracic aortic aneurysm and dissection patients. 

G. Arno, J. A. Aragon-Martin, O. Song, N. P. Kamali, A. 

Saggar, M. Jahangiri, A. H. Child. 

1676T Distribution of sarcomere versus non-sarcomere 

gene mutations in over 2400 hypertrophic and dilated 

cardiomyopathy patients. S. Baxter, A. Daly, D. Macaya, 

N. Smaoui, G. Richard, W. Chung. 

1677T Burden of rare sarcomere gene variants in the 

Framingham and Jackson Heart Study cohorts. A. 

G. Bick, J. Flannick, K. Ito, S. Cheng, R. S. Vasan, M. 

G. Parfenov, D. S. Herman, S. R. DePalma, N. Gupta, 

S. B. Gabriel, B. H. Funke, H. L. Rehm, E. J. Benjamin, 

J. Aragam, H. A. Taylor, E. R. Fox, C. Newton-Cheh, S. 

Kathiresan, C. J. O’Donnell, J. G. Wilson, D. Altshuler, J. N. 

Hirschhorn, J. G. Seidman, C. Seidman. 


1678T Whole-exome sequencing for identification 

of novel genes and variants underlying the risk of 

long-QT syndrome. M. Chaix, P. Goyette, A. Alikashani, 

F. Latour, L. Robb, B. Mondesert, L. Rivard, S. Foisy, M. 

Ladouceur, R. M. Hamilton, M. Talajic, J. D. Rioux. 

1679T A rare genetic mutation (FBLN-4 mutation) 

found in a patient presenting with diffuse severe 

aortopathy. K. Coleman, P. Fernhoff, S. Shankar, C. 

Hebson, M. Clabby, B. Kogon, B. Loeys. 

1680T Rare variants in Notch pathway genes among 

individuals with congenital heart defects. K. McBride, 

G. Zender, S. Fitzgerald-Butt, J. Stemming, A. Hooper. 

1681T TTN mutations from exome sequences of 17 

DCM families: Clinical implications. A. Morales, N. 

Norton, D. Li, E. Rampersaud, E. Martin, S. Zuchner, S. 

Guo, M. Gonzalez, R. Hershberger. 

1682T A novel Ser33045Ala variant of TTN gene in 

a family with left ventricular non-compaction and 

syncope: Is there a linked etiopathogenesis? A. 

Psychogios, A. Marsidi. 

1683T Molecular autopsy for sudden death using 

whole genome sequencing. M. J. Puckelwartz, L. 

Dellefave-Castillo, D. Wolfgeher, V. Nelakuditi, M. T. 

Campbell, J. R. Golbus, E. M. McNally. 

1684T High incidence of GLA variants in a nonselected 

heart disease patient population suggests 

that the Fabry trait is a common cardiovascular 

genetic risk factor. R. Schiffmann, S. Forni, C. Swift, 

X. Wu, D. J. Lockhart, M. Chee, T. Kitaoka, E. Chudin, 

S. Pond, N. H. McNeill, K. Sims, E. R. Benjamin, L. 

Sweetman. 

1685T Exome sequencing identifies homozygous 

truncation mutations in MYOM2 in arrhythmogenic 

ventricular dysplasia/cardiomyopathy. J. Wang, C. 

Silverstein, H. Lee, E. Mokhonova, A. Seki, S. P. Taylor, M. 

Fishbein, M. Spencer, S. F. Nelson. 

1686T Replication of associations from large scale 

re-sequencing studies. D. Waterworth, L. Li, R. Scott, 

C. Gillson, J. Aponte, L. Warren, M. Nelson, M. Ehm, N. 

Wareham, S. Chissoe. 

1687T Rare copy number variants in congenital heart 

disease affecting gene structure. K. Dumas, Y. Bouhlal, 

M. McKeon, J. T. C. Shieh. 

1688T Rare variants in the APOA5 promoter are 

associated with a paradoxical HDL-C decrease in 

response to fenofibric acid therapy. A. Brautbar, M. 

Barbalic, F. Chen, J. Belmont, S. Virani, S. Scherer, R. 

Hegele, C. Ballantyne. 

1689T COL4A1 and COL4A2 mutations cause 

genetically modifiable hemorrhagic stroke. M. 

Jeanne, J. Jorgensen, C. Labelle-Dumais, Y. Weng, W. B. 

Kauffman, M. de Leau, S. M. Greenberg, J. Rosand, J. 

Favor, D. B. Gould. 


1690T Association of 87 traits related to coronary 

heart disease and rare sequence variants in the 

ClinSeq Study. H. Sung, B. Suktitipat, K. Lewis, D. Ng, 

S. Gonsalves, J. K. Teer, N. F. Hansen, J. C. Mullikin, L. G. 

Biesecker, A. F. Wilson, NISC Comparative Sequencing 

Program. 

1691T Exome sequencing identifies a novel splice 

site mutation in LMNA and multigenic heterozygosity 

of potential modifiers in a multi-generation family 

with sick sinus syndrome, dilated cardiomyopathy 

and sudden cardiac death. M. V. Zaragoza, E. Jensen, 

F. Oh, C. K. Tran, V. Hoang, S. Hakim. 

1692T Whole-exome sequencing and quantitative 

analysis of genetic variants associated with blood 

pressure: The NHLBI Exome Sequencing Project. S. L. 

Pulit, ESP Blood Pressure Project Team, NHLBI Exome 

Sequencing Project. 

1693T Identification of novel genes and their mutations 

associated with hypertrophic cardiomyopathy. X. Liu, 

Q. Huang, X. Dai, W. Xie. 

1694T Linkage analysis and exome sequencing 

to identify causal variants for familial combined 

hyperlipidemia. A. Mak, C. R. Pullinger, M. J. Malloy, P. L. 

F. Tang, R. Deo, P. Y. Kwok. 

1695T Exome sequencing reveals a truncation 

mutation in the novex-3 isoform of TTN that disrupts 

cardiomyocyte ultrastructure and segregates with 

familial dilated cardiomyopathy. J. L. Theis, V. V. 

Michels, S. Middha, S. Baheti, P. C. Abell Aleff, T. M. 

Olson. 

1696T Challenges in interpreting secondary variants 

from massively parallel sequencing, perspectives from 

the ClinSeq study. D. Ng, J. J. Johnston, K. L. Lewis, 

S. G. Gonsalves, L. N. Singh, L. C. Peller, J. K. Teer, J. C. 

Mullikin, L. G. Biesecker. 

1697T An intronic mutation affecting pre-mRNA 

splicing in the COL3A1 gene as novel mechanisms 

causing vascular Ehlres-Danlos syndrome. A. 

Watanabe, B. T. Naing, M. Sasaki, K. Akutsu, S. Kosaihira, 

A. Gemma, T. Shimada. 

1698T Impaired basement membrane function causes 

dilated cardiomyopathy in Marfan syndrome. J. R. 

Cook, L. Carta, L. Benard, E. R. Chemaly, E. Chiu, T. 

Hampton, N. Clayton, C. Nelson, B. Wentworth, R. J. 

Hajjar, F. Ramirez. 

1699T Oxidative stress as a modifier of cardiovascular 

disease in a mouse model of Williams Beuren 

syndrome. B. Kozel, L. Ye, R. Knutsen. 

1700T The National Registry of Genetically Triggered 

Thoracic Aortic Aneurysms (GenTAC): Registry 

progress and research successes. C. Maslen, GenTAC 

Consortium. 

1701T Association of CRP gene variation in Asian 

Indian Takayasu’s arteritis patients. K. Shah, D. 


POSTER SESSIONS


Danda, R. Shah, S. Prasanna, P. Chandna, R. Chopra, 

S. Danda. 

1702T Cardiomyopathy as an emerging phenotype 

in hereditary inclusion body myopathy. S. Siebel, S. 

McGehee, A. Brofferio, C. Ciccone, M. Huizing, L. Medne, 

R. Finkel, J. McKew, W. A. Gahl, N. Carrillo-Carrasco. 

1703T Role of the Pro12Ala, G972R, G1057D 

polymorphism of the PPAR- g 2, IRS1 and IRS2 genes 

in type 2 diabetes and coronary artery disease. S. Vats, 

K. Matharoo, V. Sambyal, A. J. S. Bhanwer. 

1704T Genetic causes of cardiomyopathy in pediatric 

transplant recipients. L. Zahavich, A. Al-Maawali, A. 

Dipchand, C. Manlhiot, S. Bowdin. 

1705T Is your mother or father’s family history more 

important when assessing your risk of having high 

blood pressure: Studies in humans and mice. C. L. 

Chiu, C. T. Morgan, S. J. Lupton, S. Lujic, J. M. Lind. 

1706T Analysis of variations from exome sequence 

data with subclinical cardiovascular disease in the 

diabetes heart study: Variations from exome sequence 

data with subclinical cardiovascular disease in the 

diabetes heart study. J. Adams, A. Cox, B. Freedman, J. 

Carr, D. Bowden. 

1707T Common familial effects on ischemic stroke and 

myocardial infarction: A Swedish national cohort study. 

K. Kasiman, C. Lundholm, S. Sandin, N. Malki, P. Sparén, 

E. Ingelsson. 

1708T Jervell and Lange-Nielson syndrome: 

Homozygous missense mutation in KCNQ1 in a Turkish 

family. S. Temel, O. Bostan, H. Cangul, E. Cil. 

1709T Genetic risk profiles for incident coronary 

heart disease using a 28 SNP marker panel in four 

prospective cohorts. E. Tikkanen, A. S. Havulinna, A. 

Palotie, V. Salomaa, S. Ripatti. 

1710T Vascular stiffness in a healthy high risk African 

American population is modified by the extent of 

European admixture. D. Vaidya, R. A. Mathias, L. R. 

Yanek, L. C. Becker, D. M. Becker. 

1711T A Dutch founder mutation in the cardiac 

regulatory light chain (MYL2). I. P. C. Krapels, G. R. F. 

Claes, M. B. Hoos, Y. E. G. Barrois, J.-W. Sels, A. T. J. 

M. Helderman-van den Enden, P. G. A. Volders, H. J. M. 

Smeets, A. Van den Wijngaard. 

1712T Genome-wide DNA methylation profiling in 

myocardial infarction. A. Russo, G. Fiorito, S. Guarrera, 

C. Di Gaetano, F. Ricceri, F. Rosa, A. Allione, F. Voglino, 

L. Iacoviello, M. C. Giurdanella, R. Tumino, S. Grioni, V. 

Krogh, A. Mattiello, S. Panico, P. Vineis, C. Sacerdote, G. 

Matullo. 

1713T Common cardiovascular disease risk factors are 

associated with mitochondrial DNA levels. S. Mitchell, 

K. Brown-Gentry, M. Allen, L. Hunt, P. Mayo, N. Schnetz- 

Boutaud, D. C. Crawford, D. G. Murdock. 

1714T Assessing change in quality of life in patients 

participating in Additional KIF6 Risk Offers Better 

Adherence to Statins trial. H. R. Superko, S. L. Charland, 

B. C. Agatep, V. Herrera, M. Ryvkin, B. J. Schrader, J. 

Shabbeer, J. J. Devlin, E. J. Stanek. 

1715T Heritability of John Henryism, and correlation 

between John Henryism and hypertension in the 

Jackson Heart Study. S. G. Buxbaum, P. Goel, W. White, 

M. Gregoski, S. H. Dunn. 

Genetic Counseling and Clinical 

Testing 

1716W Assessment of health information technology 

tools use among cancer genetic counselors. M. Doerr, 

T. Vu, C. Eng. 

1717W Behavior and food-related concerns in 

children with Smith-Magenis syndrome are similar 

to Prader-Willi syndrome. L. V. Barton, T. P. York, S. H. 

Elsea. 

1718W Genetic counseling future in historicist Middle 

East culture. A. Haghighatfard, M. Mahdavi. 

1719W Pre-conception genetic counseling awareness 

in a post-secondary educational institute. A. Neogi, A. 

Mahesh, D. Jalaluddin Shariff. 

1720W Genetic counseling in India: Challenges in a 

developing country. R. Puri, U. Kotecha, R. Saxena, J. 

Verma, S. Movva, S. Kohli, I. C. Verma. 

1721W A novel GLI2 mutation and discordant 

holoprosencephaly phenotypes in monozygotic twins. 

C. Quindipan, M. Van Hirtum-Das, S. Saitta. 

1722W Furnishing appropriate information on 

mitochondrial diseases to patients and their families. 

Y. Sato, Y. Goto. 

1723W A special thalassemia case with probable 

uniparental disomy. Y. Zhang, J. Wu, M. Q. Mai, A. H. Yin, 

H. K. Ding, D. Q. Qin, Q. Y. Du, J. Q. Liang. 

1724W Understanding the needs of parents of children 

with a genetic diagnosis: Can it improve clinical 

practice? L. Bryson, J. Dunlop, A. Anderson, J. Berg. 

1725W A diagnostic assay for predicting medullary 

cystic kidney disease type 1. B. Blumenstiel, M. 

DeFelice, A. Kirby, A. Gnirke, A. Bleyer, S. Gabriel, M. Daly. 

1726W Studding the importance of common 

a-deletions among b-thalassemia minor individuals in 

an Iranian population based on their frequencies and 

CBC indexes. A. Moosavi, M. Karimipoor, S. Zeinali, B. 

Zarbakhsh. 

1727W Genomic data interpretation challenges: 

Healthy older relatives as super controls. M. S. 

Naslavsky, R. C. M. Pavanello, N. C. V. Lourenço, A. 


Cerqueira, M. Lazar, M. Vainzof, D. Schlesinger, M. Zatz. 

1728W Assessment of cascade testing in families of 

carriers identified through newborn screening for 

cystic fibrosis in western Brittany, France. C. Ferec, I. 

Dugueperoux, M.-P. Audrezet, P. Parent, V. Scotet. 

1729W NextGen sequencing of HEXA: A more 

sensitive assay. J. Hoffman, M. Umbarger, C. Kennedy, 

B. Bishop, P. Saunders, G. Porreca, E. Strovel, M. 

Blitzer, J. Douyard, J. Davies, S. Hallam, V. Greger, C. 

Towne. 

1730W No association between ATXN2 (SCA2) 

CAG repeat expansion and amyotrophic lateral 

sclerosis /parkinsonism-dementia complex of the 

Kii Peninsula, Japan. H. Tomiyama, C. Yamashita, R. 

Sasaki, Y. Li, M. Funayama, N. Hattori, S. Kuzuhara, Y. 

Kokubo. 

1731W Assigning disease liability of mutations in 

the CFTR gene improves detection rate of CF carrier 

screening. K. R. Siklosi, P. R. Sosnay, F. Van Goor, K. 

Kaniecki, M. Corey, A. S. Romalho, M. D. Amaral, R. 

Dorfman, R. Karchin, M. H. Lewis, H. Yu, J. Zielenski, 

J. M. Rommens, C. Castellani, C. M. Penland, G. R. 

Cutting. 

1732W Mutational screening of C9ORF72, SOD1, 

TARDBP and FUS genes in an ALS cohort from the 

Northeastern part of Italy. C. Bertolin, J. Agostini, 

C. D’Ascenzo, F. Boaretto, C. Salvoro, C. Angelini, E. 

Pegoraro, G. Sorarù, M. L. Mostacciuolo. 

1733W Cree leukoencephalopathy and Cree 

encephalitis carrier screening program: Live 

experiences of carrier and non-carrier couples. J. Le 

Clerc-Blain, H. Denoncourt, A. Richter, A. M. Laberge. 

1734W Diagnostic exome sequencing in movement 

disorders. E. J. Kamsteeg, C. F. H. A. Gilissen, K. 

Neveling, H. J. E. de Reuver, B. P. C. van de Warrenburg, 

M. A. A. P. Willemsen, S. Vermeer, H. G. Brunner, M. R. 

Nelen, H. Scheffer. 

1735W Whole exome sequencing as an approach to 

the diagnosis of the ataxic patients. Y. Yang, M. Vatta, 

Z. Niu, Y. Ding, H. Sun, M. Scheel, N. Saada, W. Liu, M. 

Wang, D. P. Sexton, A. C. Hawes, M. N. Bainbridge, P. A. 

Pham, J. G. Reid, D. M. Muzny, A. A. Braxton, P. A. Ward, 

T. M. Balmakund, W. K. Chung, A. Willis, S. E. Plon, J. R. 

Lupski, R. A. Gibbs, A. L. Beaudet, C. M. Eng. 

1736W A retrospective genetic analysis of cases 

reported using an XLMR/XLID next-generation 

sequencing panel. M. Parra, S. Mexal, R. Hoiness, K. 

Waller, I. Lu, C. Gau, J. A. Neidich, J. Wei. 

1737W Principles and informatic infrastructure 

for implementing diagnostic next-generation 

sequencing for genetically heterogeneous 

conditions. S. Topper, V. Nelakuditi, C. Tan, A. Reeder, 

D. del Gaudio, S. Das. 

1738W Clinical characterization of patients 


undergoing molecular testing for Ehlers Danlos 

syndrome at The Hospital for Sick Children in Toronto, 

Canada: Five year experience. L. Dupuis, M. A. 

Qoqandi, P. Kannu, L. Fishman, D. Chitayat, S. Bowdin, 

R. Mendoza-Londono. 

1739W Detection of oipA using PCR method can help 

to the diagnosis of Helicobacter pylori in the dyspeptic 

patients. L. Salimzadeh, N. Bagheri, F. Azadegan, G. 

Rahimian, A. Taghikhani, M. Hashemzadeh, H. Shirzad. 

1740W Connecting family branches through recurrent 

BRCA mutations. A. Toland, M. O’Connor, L. Senter. 

1741W Low prevalence of large genomic 

rearrangements in BRCA1/2 found in at-risk Southern 

California population. T. Hoffman, M. Alvarado. 

1742W Clinical whole exome sequencing for the 

diagnosis of Mendelian disorders: Program design, 

implementation, and first year reporting experience. 

C. M. Eng, D. Muzny, J. Reid, M. Bainbridge, P. Pham, M. 

R. Bekheirnia, J. Beuten, M. Hardison, Z. Niu, R. Person, 

M. Vatta, F. Xia, A. Hawes, M. Wang, Y. Ding, H. Sun, M. 

Scheel, N. Saada, W. Liu, A. Braxton, P. Ward, A. Willis, J. 

Wiszniewska, S. E. Plon, J. R. Lupski, A. L. Beaudet, R. A. 

Gibbs, Y. Yang. 

1743W Diagnostic yield of single nucleotide 

polymorphism array-based genotyping is equivalent 

to metaphase cytogenetics for Turner syndrome. S. K. 

Prakash, D. C. Guo, C. L. Maslen, M. Silberbach, D. M. 

Milewicz, C. A. Bondy, GenTAC Investigators. 

1744W High resolution copy number profiling of the X 

chromosome in clinical diagnosis. S. A. Yatsenko, S. 

Madan-Khetarpal, U. Surti, A. Rajkovic. 

1745W MLPA-based strategy for discrete CNV 

genotyping: CNV-miRNAs as an example. M. 

Marcinkowska, P. Kozlowski. 

1746W Turkish medical students perceived genetic 

counseling style and the use of hypothetical genetic 

testing across 5 psychiatric and 3 non-psychiatric 

disorders. D. Kinney, E. A. Ergul, K. Munir, O. Kutuk, F. 

Topuz, A. Kanik. 

1747W Non-optical massive parallel DNA sequencing 

of BRCA1 and BRCA2 genes: Towards the diagnostic 

setting. J. L. Costa, S. Sousa, R. Fernandes, L. Cirnes, J. 

C. Machado. 

1748W Identifying the genetic cause of primary 

immunodeficiency diseases: Development of a 

next-generation sequencing approach for routine 

diagnostics. S. C. Drury, C. Bacchelli, S. Bibi, F. McKay, 

L. Jenkins, H. B. Gaspar, C. M. Cale, K. C. Gilmour, N. J. 

Lench. 

1749W Exome sequencing analysis for diagnostics. 

C. Gilissen, M. Nelen, K. Neveling, R. de Reuver, L. E. L. 

M. Vissers, N. Wieskamp, H. G. Yntema, J. de Ligt, M. 

Rosario, H. G. Brunner, H. Scheffer, J. A. Veltman. 


POSTER SESSIONS


1750W Detection and mapping the breakpoints of 

heteroplasmic mtDNA deletions by massively parallel 

sequencing. F.-Y. Li, H. Cui, D. Gonzalez, J. Wang, V. 

Zhang, L.-J. Wong. 

1751W Three novel AGL mutations in glycogen storage 

disease type III in Tunisian families. A. Mili, O. Mamaï, I. 

Ben Charfeddine, A. Amara, S. Pagliarani, S. Lucchiari, A. 

Saad, K. Limem, M. Gribaa. 

1752W Multiplex PCR assay for detection of the 2 

most common mutations in the profilaggrin gene (FLG) 

involved in ichthyosis vulgaris. G. Pont-Kingdon, L. 

Hubley, E. E. Baldwin, E. Lyon. 

1753W GeneReviews as a source of medically 

actionable information for coincidentally diagnosed 

disorders. M. P. Adam, C. R. Dolan, A. R. Amemiya, M. 

Espeseth, T. D. Bird, K. Stephens, R. A. Pagon. 

1754W Comprehensive diagnostic hearing loss testing 

on a single platform: The OtoGenome test. S. S. Amr, T. 

J. Pugh, E. Duffy, L. Farwell, S. Gowrisankar, A. Lovelette- 

Hernandez, B. H. Funke, H. L. Rehm. 

1755W Allele drop out and MECP2 genetic testing. E. 

Bettella, R. Polli, E. Leonardi, A. Murgia. 

1756W Screening for and Identification of pathogenic 

mutations in patients with inherited retinal 

degenerations using targeted enrichment and 

next-generation sequencing. M. B. Consugar, Z. D. 

Fonseca-Kelly, E. M. Place, E. Au, S. M. Harper, X. Gai, E. 

L. Berson, E. A. Pierce. 

1757W Validation of whole exome sequencing assay 

for clinic service at Baylor College of Medicine. Y. Ding, 

D. M. Muzny, J. G. Reid, M. Wang, Y. Han, H. Dinh, D. P. 

Sexton, M. N. Bainbridge, A. C. Hawes, P. Pham, B. Yin, 

D. P. C. Ng, C. J. Buhay, J. Wiszniewska, M. Scheel, N. 

Saada, W. Liu, H. Sun, R. A. Gibbs, A. L. Beaudet, C. M. 

Eng, Y. Yang. 

1758W Advancing from targeted resequencing to whole 

exome sequencing for improving the molecular diagnosis 

of congenital disorders of glycosylation. M. A. Jones, B. 

G. Ng, P. He, M. E. Losfeld, S. Bhide, D. Rhodenizer, E. L. H. 

Chin, M. He, H. H. Freeze, M. R. Hegde. 

1759W A novel splice site variant (IVS44-3T.C) in 

COL3A1 results in small amounts of exon skipping 

and complicates genetic counseling in a family with 

features of hypermobility Ehlers-Danlos syndrome. D. 

F. Leistritz, U. Schwarze, D. Sarroza, P. D. Steele, C. Boni, 

B. A. Salbert, P. H. Byers. 

1760W A DNA-based method for detecting 

homologous blood doping. I. Manokhina, J. L. Rupert. 

1761W Identification of ARID1B mutations in 

intellectual disability/Coffin-Siris patients by clinical 

whole exome sequencing analysis. Z. Niu, M. Vatta, A. 

Willis, Y. Ding, H. Sun, M. Scheel, N. Saada, W. Liu, M. 

Wang, D. P. Sexton, A. C. Hawes, M. N. Brainbridge, P. 

Pham, J. G. Reid, D. M. Muzny, P. A. Ward, A. A. Braxton, 

A. Scheuerle, M. K. Koenig, S. E. Plon, J. R. Lupski, R. A. 

Gibbs, A. L. Beaudet, Y. Yang, C. M. Eng. 

1762W National Institutes of Health Genetic Testing 

Registry. W. S. Rubinstein, D. Maglott, B. L. Kattman, 

A. Malheiro, J. Lee, M. Ovetsky, V. Hem, G. Song, V. 

Gorelenkov, C. Fomous, J. Ostell. 

1763W EuroGentest Clinical Utility Gene Cards: 

Progress and perspectives. J. Schmidtke, A. Dierking. 

1764W Mutation screening of genes causing inherited 

immunodeficiency and bone marrow failure using nextgeneration 

sequencing. T. A. Sivakumaran, A. Husami, D. 

Kissell, K. Zhang. 

1765W Mutation analysis of the SOX2 and OTX2 genes 

in 235 patients with developmental eye disorders. N. 

Smaoui, B. Williams, S. Aradhya, S. Bale, S. Suchi, G. 

Richard. 

1766W Digitizing clinical genetic literature: A 

comprehensive, accurate and scalable approach. M. 

Sommargren, Locus Development, Inc. 

1767W Estimated variant rate for a next-generation 

sequencing panel of 13 genes associated with hereditary 

colon cancer. A. J. Stuenkel, S. L. Tandy, J. D. Siegfried. 

1768W Simple and accurate assays for targeting 

CFTR mutations of specific geographic/ethnic 

origins by PCR allelic discrimination: still a place for 

targeted tools. C. Vasseur, A. LeFloch, B. Costes, A. de 

Becdelièvre, T. Casals, C. Costa, M. Goossens, E. 

Girodon. 

1769W The CLARITY Challenge: Children’s leadership 

award for the reliable interpretation and appropriate 

transmission of your genomic information. C. A. 

Brownstein, E. T. DeChene, K. C. Flannery, S. W. Kong, M. 

C. Connolly, I. S. Kohane, A. H. Beggs, D. M. Margulies. 

1770W What is a clinical grade genome? F. De La Vega, 

A. Russell, M. A. Morales, C. D. Bustamante, M. G. Reese. 

1771W The mutation type and effect of variants 

underlying human genetic diseases. J. Westbrook, Y. 

Kobayashi, Locus Development, Inc. 

1772W Application of next-generation sequencing 

technology in the study of mitochondrial diseases. Y. 

Ma, Y. Cao, Z. Chen, H. Pan, Y. Qi. 

1773W A combined next-generation sequencing and 

exon-level aCGH diagnostic gene panel for severe 

developmental delay and epilepsy phenotypes. N. 

J. Lench, H. Moody, A. McTague, E. Meyer, S. Drury, S. 

Fielding, R. Palmer, M. A. Kurian, R. H. Scott. 

1774W High-throughput mutation screening in patients 

with inherited retinal dystrophies. X. Wang, A. Turner, M. 

Brooks, H. Rajasimha, K. Johnson, Y. Fann, A. Swaroop. 

1775W Predictive testing for neurodegenerative 


conditions is often not predictive. C. L. Goldsmith, D. A. 

Dyment, K. M. Boycott. 

1776W Large scale population analysis challenges 

the current criteria for the molecular diagnosis of 

fascioscapulohumeral muscular dystrophy. I. Scionti, 

F. Greco, G. Ricci, M. Govi, P. Arashiro, L. Vercelli, T. 

Mongini, A. Berardinelli, C. Angelini, G. Antonini, M. Cao, 

A. Di Muzio, M. Moggio, L. Morandi, E. Ricci, C. Rodolico, 

L. Ruggiero, L. Santoro, G. Siciliano, G. Tomelleri, C. P. 

Trevisan, G. Galluzzi, W. Wright, M. Zatz, R. Tupler. 

1777W Identification of a common pan-ethnic 

haplotype enriched on SMN1 duplication alleles 

improves the detection of silent (210) SMA carriers and 

significantly modifies residual risk estimates. M. Luo, 

L. Liu, I. Peter, J. Zhu, S. A. Scott, G. Zhao, C. Eversley, R. 

Kornreich, R. J. Desnick, L. Edelmann. 

1778W Multiplexing test for molecular diagnosis of 

skeletal dysplasia (by CGC mutation panel). P. Tavares, 

A. Lopes, L. Lameiras, L. Dias, J. Sá, A. Palmeiro, P. 

Rendeiro. 

1779W A combination of panel and exome sequencing 

to identify novel human retinitis pigmentosa genes. F. 

Wang, H. Wang, J. Zaneveld, K. Zhang, R. Koenekoop, 

G. Silvestri, N. Solanki, J. Cheng, I. Lopez, H. Ren, D. 

Simpson, R. Chen. 

1780W Evaluation of BRCA1 mutations in patients with 

family history of breast cancer. S. Rummel, C. D. Shriver, 

R. E. Ellsworth. 

1781W Measuring clinician satisfaction with disclosure 

of genetic susceptibility test results: Findings from the 

REVEAL Study. S. L. Everhart, B. M. Wood, K. Valverde, L. 

Medne, J. S. Roberts, C. A. Chen, K. D. Christensen, R. C. 

Green, REVEAL Study Group. 

1782W Reactions to direct-to-consumer BRCA test 

results. U. Francke, C. Dijamco, A. K. Kiefer, N. Eriksson, 

J. Y. Tung, J. L. Mountain. 

1783W Targeted gene capture of BRCA1 using short, 

explicitly non-gene-specific, peptide nucleic acid baits. 

S. V. Tavtigian, K. Tao, R. Bell, J. Rosenthal, W. Kohlmann. 

1784W Predictive testing for idiopathic scoliosis: Are 

orthopedic surgeons and pediatricians ready and 

willing? A. M. Laberge, A. Moreau. 

1785W Myocilin genetic screening in severe 

glaucoma cases and cascade testing in the 

Australian and New Zealand Registry of Advanced 

Glaucoma. E. Souzeau, K. P. Burdon, B. Usher-Ridge, 

A. Dubowsky, J. E. Craig. 

1786W Parental awareness, attitudes, and experiences 

of genetic testing in autism spectrum disorders. A. 

Rupchock, M. Cuccaro, M. Alessandri, J. M. Lee. 

1787W Genetic testing in autism: Parental attitudes 

and expectations. M. Cuccaro, K. Czape, J. M. Lee, A. 

Rupchock, E. Bendik, M. Alessandri, S. Hahn. 


1788W Underestimated intimate issues after bilateral 

prophylactic mastectomy with breast reconstruction in 

healthy BRCA mutation carriers. A. Tibben, J. Gopie, C. 

Seynaeve, M. Ter Kuile, M. Menke-Pluymers, R. Timman, 

M. Mureau. 

1789W Risk of peripartum acute aortic dissection in 

women with ACTA2 mutations. E. Regalado, D. Guo, D. 

Milewicz. 

1790W Translational impact of VEGFA variants on the 

prediction and follow-up of ocular complications in 

pseudoxanthoma elasticum. E. De Vilder, M. J. Hosen, 

L. M. Martin, B. P. Leroy, J. M. Ebran, P. J. Coucke, A. De 

Paepe, O. M. Vanakker. 

1791W Familial occurrence and associated symptoms 

in a population of individuals with non-syndromic 

craniosynostosis. J. Greenwood, S. Boyadjiev, K. Osann, 

P. Flodman, V. Kimonis. 

1792W Personalized risk prediction in a populationbased 

biobank: The Estonian experience. K. Fischer, K. 

Läll, L. Leitsalu-Moynihan, P. C. Ng, T. Haller, T. Esko, A. 

Metspalu. 

1793W Acquired thrombophilias; The reproductive 

geneticist’s dilemma. T. Goldwaser, K. Bajaj, S. Klugman. 

1794W Family history and risk assessment in black 

South African women with breast cancer. T. Wainstein, 

C. van Wyk, A. Krause. 

1795W Support for patients with Young-Simpson 

syndrome, their families and other peoples concerned: 

Study of patients and family group meetings. 

Y. Yamanouchi, T. Nishikawa, K. Enomoto, N. Furuya, 

S. Mizuno, T. Kondo, M. Adachi, K. Muroya, M. Masuno, 

K. Kurosawa. 

1796W Duplications Xq28 are questionable for genetic 

counseling. C. Costa, A. Briand, C. Rothschild, E. Bieth, 

J. Melki, C. Metay, M. Goossens. 

Ethical, Legal, Social and Policy 

Issues in Genetics 

1797W Surname leakage from personal genomes. 

Y. Erlich, M. Gymrek, D. Golan, E. Halprein, A. L. McGuire. 

1798F Optional enrollment into access controlled 

genomic databases: Decision making in hispanics 

versus non-Hispanics. S. Scollon, S. Gutierrez, 

A. L. McGuire, S. Hicks, S. E. Plon. 

1799W Development of institutional genomic research 

infrastructure in an academic pediatric hospital setting 

to enable large-scale enrollment, education and 

discovery. C. M. Clinton, S. K. Savage, C. A. Brownstein, 

I. A. Holm, D. M. Margulies, W. A. Wolf. 

1800F A proposal: A family driven social network 

model for clinical data sharing and research in 


POSTER SESSIONS


intellectual deficiencies and other neurodevelopmental 

disorders with specific genetic causes. J.-L. Mandel, 

J. S. Beckmann. 

1801W Turkish medical students attitude towards 

the ethics of genetic testing and genetic information 

disclosure in fragile X syndrome, breast cancer and 

Huntington disease. E. A. Ergul, I. Gun. 

1802F Hope and hype in sight: Multi-stakeholder 

perspectives on ocular gene therapy. S. Benjaminy, 

T. Bubela, M. Bieber, I. MacDonald. 

1803W Social and ethical implications of families’ 

experiences of pediatric genetics: Key findings from a 

U.K. qualitative study exploring families’ expectations, 

their responses to diagnosis and their approach to 

managing the uncertainties of genetic investigations. 

J. McLaughlin, M. Wright, E. K. Clavering, E. Haimes. 

1804F Driving research forward, but in what direction? 

Scientist perspectives on goals and groups invested in 

autism genetic research. L. C. Milner, M. K. Cho. 

1805W Experiential process of securing free prior 

informed consent for genetics research from an 

indigenous population in the Philippines. C. D. Padilla, 

A. L. Sur, M. T. Guia-Padilla, M. Baluyot, E. M. Cutiongcode 

la Paz, S. Padilla. 

1806F The essential ethical considerations for using 

human genome sequencing as a diagnostic tool in 

clinical medicine. A. D. Zellers. 

1807W The evaluation of low template, degraded and 

mixed DNA profiles in forensic science. D. Balding. 

1808F Legal considerations regarding participant 

privacy in the genomic era of research on the African 

continent. G. E. B. Wright, P. Koornhof, N. Tiffin. 

1809W Insurance coverage of preventive services for 

individuals with genetic predispositions to cancer. 

A. Prince. 

1810F The implementation and impact of student 

athlete sickle cell trait screening: A survey of Division I 

California universities. L. Mar, N. Lovick, C. Hartshorne, 

M. Treadwell, J. Youngblom. 

1811W Direct to consumer genetic testing: What 

information for which consent? J. Atia, E. Rial-Sebbag, 

V. Anastosova, A. Cambon-Thomsen, F. Taboulet. 

1812F Genetic discrimination and the relevance of the 

United Nations Convention on the Rights of Persons 

with Disabilities. A. de Paor. 

1813W Representing the indigenous community: 

Researcher and physician voices spark debate over 

newborn screening of CPT1A in Alaska Native and First 

Nations populations. N. Garrison. 

1814F Next-generation sequencing of pluripotent stem 

cell lines: Ethical, social and policy considerations. 

R. Isasi. 

1815W Research policy of the “Genome Science” 

project in Japan. J. Minari, T. Shirai, G. Yoshizawa, 

K. Okada, N. Yamamoto, K. Kato. 

1816F Cultural influences on genetic testing in East 

Asia. H. Numabe. 

1817W The need for an ELSI watch of epigenetic 

information. E. Rial-Sebbag, A. Soulier, C. Delpierre. 

1818F Pervasive sequence patents cover the entire 

human genome. J. A. Rosenfeld, P. Zumbo, C. E. Mason. 

1819W The revised points of ethical guidelines for 

human genome research in Japan. Z. Yamagata, 

K. Muto. 

1820F Does evidence justify the use of multigene 

sequencing panels for rare genetic disorders? 

D. Allingham-Hawkins, A. Lea, L. Cushman-Spock, 

L. Wieselquist, S. Levine. 

1821W The student-athlete’s knowledge, behaviors, 

concerns and perceptions in regards to mandatory 

sickle cell trait testing. N. E. Thompson, B. W. Harrison, 

F. Ampy, R. F. Murray, Jr. 

1822F Primary care patients’ experience of 

and reactions to direct-to-consumer genomic testing: 

A longitudinal qualitative study. K. Wasson, T. N. 

Sanders, N. S. Hogan, S. Cherny, K. J. Helzlsouer. 

1823W Whole genome sequencing: Will it destroy 

newborn screening? C. Allen, D. Avard, B. M. Knoppers. 

1824F Patient and provider perspectives on 

personalized genomic medicine: Qualitative substudy 

of a multicenter feasibility study of genomic 

sequencing in advanced cancer patients. J. P. 

Bytautas, F. A. Miller, R. Z. Hayeems, S. Ernst, H. Hirte, 

S. Hotte, A. Oza, A. Razak, S. Welch, E. Winquist, P. L. 

Bedard, J. Dancey, L. L. Siu. 

1825W Consumer genomics: Motivations and 

intentions. R. C. Green, J. Mountain, A. Kiefer, T. Moreno, 

E. MacBean, S. S. Kalia, J. S. Roberts, PGen Study Group. 

1826F The Ethical, Legal and Social Implications 

Program: Impact on federal policy. D. Mathews, 

B. Drehman. 

1827W Public perspectives regarding personalized 

medicine and genomic risk profiling within colorectal 

cancer screening. S. G. Nicholls, B. J. Wilson, S. Craigie, 

H. Etchegary, D. Castle, J. C. Carroll, B. K. Potter, 

L. Lemyre, J. Little on behalf of CIHR Emerging Team in 

Genomics in Screening. 

1828F Pursuing pharmacogenomic testing within 

a nonprofit healthcare system: A comparison of 


stakeholders’ perspectives. S. M. Fullerton, 

S. B. Trinidad, J. D. Ralston, J. T. Tufano, G. P. Jarvik, 

E. B. Larson. 

1829W Public preferences for the use of email and 

Internet communication in large-scale genetic and 

biobank research. J. Murphy Bollinger, R. Dvoskin, 

K. Kreger, D. Kaufman. 

1830F Public attitudes towards consumer genetics in 

Japan, South Korea and Taiwan. K. Muto, M. Sato, H. 

Hong, C. Chang. 

1831W Japanese networkers attitudes toward 

personal genome services. T. Kido, M. Kawashima. 

1832F Genetic risk predictions: Attitude of the Estonian 

public. L. Leitsalu-Moynihan, A. Allik, M. L. Tammesoo, 

A. Metspalu. 

1833W Attitude change for four years toward genetic 

testing of children for common disease risk in Japan. 

I. Ishiyama, K. Muto, A. Tamakoshi, T. Maeda, A. Nagai, Z. 

Yamagata. 

1834F African Americans in South Floridas 

perceptions about genetic research participation: 

Opportunities and barriers. J. M. Lee, M. Gavier, S. E. 

Hahn, L. Adams, D. A. Caldwell, K. G. Murphy, C. Jean, 

M. A. Pericak-Vance. 

1835W Unexpected results in biobank research: 

Experiences of information delivery and direction to 

health care after detection of mutations leading to long 

QT syndrome. H. Kaariainen, E. Kujala, P. Alha, 

V. Salomaa, S. Koskinen, H. Swan, A. Haukkala. 

1836F The Gene Partnership: A model for pediatric 

genetic repositories in the age of the incidentalome. 

I. A. Holm, C. M. Clinton, S. K. Savage, P. L. Taylor, K. 

D. Mandl, J. P. Bickel, D. J. Nigrin, I. S. Kohane, D. M. 

Margulies, L. M. Kunkel. 

1837W The Medical College of Wisconsin Program in 

Genomics and Ethics: An empirical bioethics venture. 

K. A. Strong, T. May, K. L. Zusevics, A. R. Derse. 

1838F Evaluation of a scalable method for returning 

results and genetic findings from genomic research to 

research participants. J. Y. Tung, S. Wu, B. T. Naughton, 

J. L. Mountain. 

1839W Perceptions of genetic counseling services 

in direct-to-consumer personal genomic testing. B. 

F. Darst, N. J. Schork, E. J. Topol, C. S. Bloss. 

1840F Shared decision-making: Seeking a change in 

the genetics consult. S. Adam, P. H. Birch, A. Townsend, 

F. Rousseau, J. M. Friedman. 

1841W Personal genomics: A study assessing the 

safety and health outcomes of receiving whole exome 

sequencing results. Y. Bombard, K. Schrader, 

E. Glogowski, R. Rau-Murthy, S. Patil, A. Eaton, E. Elkin, 

M. J. Massie, J. Hay, S. Shah, J. Vijai, N. Kauff, Z. Stadler, 

M. Robson, K. Offit. 


1842F Integrating exome/genome sequencing into 

clinical genetics practice. S. M. Jamal, H. K. Tabor, 

J. Conta, J. Yu, M. J. Bamshad. 

1843W A proposed approach to the integration of 

sequence data at a pediatric academic institution. 

S. K. Savage, C. M. Clinton, I. A. Holm, I. S. Kohane, 

D. M. Margulies. 

1844F Assessing participant preferences for the return 

of genomic research results. L. Shahmirzadi, M. K. Cho, 

S. Soo-Jin Lee, K. E. Ormond. 

1845W The NHGRI/NIH Clinical Sequencing Exploratory 

Research Program. B. A. Ozenberger, L. A. Hindorff, 

S. D. Schully, J. Boyer, N. Lockhart, L. Lund, C. Mahomva, 

A. Felsenfeld, J. E. McEwen. 

1846W Genomic incidental findings: Perspectives of 

geneticists and genetic counselors in the context of 

clinical sequencing. Z. Lohn, S. Adam, P. H. Birch, 

A. Townsend, J. M. Friedman. 

1847W Accounting for racial disparities in mortality 

among children with Down syndrome. S. Santoro, 

A. Esbensen, L. Hendershot, F. Hickey, B. Patterson. 

1848W ELSI 2.0: A new initiative to create an international 

infrastructure for the ethical, legal and social implications 

of genomic research. K. Kato, J. Kaye, E. M. Meslin, 

B. M. Knoppers, E. T. Juengst, M. Deschenes, A. Cambon- 

Thomsen, D. Chalmers, J. De Vries, K. Edwards, N. Hoppe, 

A. Kent, C. Adebamowo, P. Marshall. 

1849W The challenges of defining a phenotype for 

addiction: In the words of addiction scientists. 

J. B. McCormick, J. E. Ostergren, R. R. Hammer, H. S. 

Harvey, M. Dingel, B. A. Koenig. 

1850W Discriminating faces: Visual cues of ancestry. 

J. Wagner, P. Claes, M. Shriver. 


1851F Integrating medical genetics into primary health 

care: Report of a pilot program in Brazil. T. Vieira, 

C. Giugliani, L. Silva, L. Faccini, J. Leite, O. Artigalás, 

M. Lenz, M. Rojas, R. Giugliani. 

1852F The Gene Messenger impact project: A 

genetics e-learning program for family physicians. 

J. C. Carroll, R. Grad, P. Pluye, J. Allanson, J. Permaul, 

N. Pimlott, B. J. Wilson. 

1853F Examining the research training of recent 

genetic counseling graduates. S. Hahn, A. Rupchock, 

E. Bendik, E. Burkett, E. Heise. 

1854F Increasing the number of URMs in genomic 


POSTER SESSIONS


science. D. Murray, D. Whittington, R. Gibbs. 

1855F Pharmacotherapy of Inherited Metabolic 

Diseases PharmD Fellowship Training Program. J. Utz, 

W. Whitley. 

1856F Promoting student engagement and critical 

thinking in genetics: An evaluation of “Luck of the 

Draw” game. M. Godfrey, A. Bower, K. L. Tracy, R. 

Anderson, A. Jameton, B. Arobba, C. Ryan. 

1857F Genetic numeracy in college students: 

A quantitative analysis. M. Bergman, H. Honore Goltz. 

1858F The Growing Stronger Organization and the 

Acondroplasia - Achondroplasia Blog: A parents’ 

initiative to share knowledge and foster alliances 

towards potential therapeutic approaches for 

achondroplasia. M. Kaisermann. 

1859F Genetics Home Reference, ten years in: Where 

we are now. S. M. Morrison, M. L. Cheh, S. Calvo, H. 

Collins, J. Fun, K. Greenberg, L. Forman-Neall. 

1860F Investigating a conceptual change strategy 

to improve student understanding of basic genetics 

concepts in undergraduate non-science major and 

nursing student populations. B. Bowling, M. Glassford, 

S. Barnes, S. Borgman, E. Reilly, T. Beery, C. Huether. 

1861F Alignment and assessment problems in the 

undergraduate genetics curriculum. M. Dougherty, 

T. McElhinny, B. Bowling, J. Libarkin. 

1862F YouTube as an educational resource for visual 

and kinesthetic learners: A study of DNA replication 

animations. J. M. Lind. 

1863F Genetic counseling in India: Current certification 

courses and a need for the development of a master’s 

training program. K. Shah. 

Health Services Research 

1864F A strategy of applying comprehensive 

therapeutic approaches for training children with 

autism. H. Xu, N. Zhong. 

1865F Genetics and public health: The experience 

of a referral center for diagnosis of 22q11.2 deletion 

in Brazil and suggestions for implementing genetic 

testing. T. Vieira, I. Sgardioli, V. Gil-da-Silva-Lopes. 

1866F Outreach, genetic counseling and testing of 

patients at risk for hereditary breast and ovarian 

cancer ascertained through the use of the electronic 

medical record. H. Kershberg, E. Parkhurst, M. Alvarado, 

H. Zhou, J. Natoli, G. Tiller. 

1867F Prevalence of Down syndrome in the United 

States. A. P. Presson, G. Partyka, K. M. Jensen, S. A. 

Rasmussen, O. J. Devine, L. McCabe, E. R. B. McCabe. 

1868F Rare disease initiatives in Europe: Centers 

of expertise in Germany. C. Huebner, M. Stuhrmann- 

Spangenberg, C. Zeidler, J. Schmidtke. 

1869F Implementation of universal Lynch syndrome 

screening in an integrated health-care delivery system. 

K. A. B. Goddard, T. Kauffman, M. Morse, J. Davis, C. 

Young, E. Esterberg, C. McGinley, J. Reiss. 

1870F Beyond NGS technology: Overcoming key 

challenges for nation-wide implementation of nextgeneration 

sequencing into routine diagnostics. 

T. Vrijenhoek on behalf of Centre for Genome Diagnostics. 

1871F Inherited Neuropathies Consortium: A 

collaborative approach to genetic research in 

Charcot-Marie-Tooth disease. F. Speziani, S. M. E. 

Feely, C. Siskind, S. H. Blanton, G. Beecham, J. M. Vance, 

M. Shy, S. Zuchner, Inherited Neuropathies Consortium. 

1872F Genomic technologies: Effective integration 

into pediatric clinical care. R. Hayeems, N. Hoang, S. 

Chenier, J. Stavropoulos, S. Pu, S. Wodak, R. Babul-Hirji, 

J. Davies, L. Velsher, J. Aw, R. Weksberg, C. Shuman. 

1873F Genomic technologies: Effective integration 

into adult preventive medicine. N. Hoang, R. Hayeems, 

J. Davies, L. Velsher, J. Aw, S. Chenier, J. Stavropoulos, 

S. Pu, S. Wodak, R. Babul-Hirji, R. Weksberg, C. Shuman. 


1874F Evaluating laboratories’ interpretation of genetic 

test results through a EuroGentest Proficiency Testing 

survey. E. Girodon, S. Berwouts, M. Rodriguez de Alba 

Freiria, AF. Roux, D. Barton, L. Hoefsloot, S. Gardner, 

O. Kamarainen, B. Fowler, M. A. Morris, E. Dequeker, 

R. Hastings. 

1875F Interstate compatibility and emergency 

preparedness of newborn screening laboratories at 

the interface of clinical medicine and public health. 

J. Mulvihill, P. Hopkins, S. Berberich. 

1876F Evaluation of the Bogotá Congenital 

Malformations Surveillance Program. I. Zarante, 

C. Mallarino, G. Gracia. 

1877F Drivers, barriers and opportunities for genetic 

testing services in emerging economies: The Genetic 

Testing in Emerging Economies project. I. Nippert, 

A. Christianson, D. D. G. Horovitz, R. Raouf, C. D. Padilla, 

V. Penchaszadeh, A. Rajab, I. C. Verma, N. Zhong, 

L. Gribaldo, U. Kristoffersson, J. Schmidtke. 

Complex Traits and Polygenic 

Disorders 

1878W Genetic variation in susceptibility to 

hypothyroidism induced hearing impairment. Q. Fang, 

T. J. Jones, T.-W. Gong, A. H. Mortensen, M. T. Fleming, 

D. F. Dolan, M. I. Lomax, K. R. Johnson, M. Mustapha, 

S. A. Camper. 

1879T Transethnic mapping of putative diabetic 

nephropathy loci in African Americans. N. D. Palmer, 

M. C. Y. Ng, J. N. Cooke, M. Petrulis, B. I. Freedman, 

D. W. Bowden. 

1880F The exon 3 deleted/full-lenght polymorphism 

of the growth hormone receptor in the Brazilian 

population: Association with idiopathic short 

stature and body composition measurements in 

osteoporosis. F. A. Marques, T. C. L. Lins, C. T. Neves, 

M. T. O. Cardoso, R. M. Lima, R. J. Oliveira, R. W. 

Pereira, R. Pogue. 

1881W Variants in PTPN22 and SMOC2 genes and the 

risk of thyroid disease in the Jordanian population. 

A. Alkhateeb, N. Marzouka, R. Tashtosh. 

1882T Genetic associations with neonatal thyroid 

stimulating hormone levels. F. Alul, O. Shchelochkov, 

S. Berberich, J. Murray, K. Ryckman. 

1883F TNF-b Nco1 polymorphism in relation to 

postoperative sepsis outcome in joint care surgery. 

K. Baghel, R. Srivastava, S. Raj, D. Sanghi. 

1884W Preeclampsia is associated with variation in 

endoglin pathway genes. M. J. Bell, J. M. Roberts, S. A. 

Founds, A. Jeyabalan, L. Terhorst, Y. P. Conley. 


1885T Genetic polymorphisms in ESR1 and ESR2 

genes and risk of hypospadias in a multi-ethnic 

study population. S. Choudhry, E. J. Lammer, J. S. 

Witte, S. Dasgupta, C. Ma, G. M. Shaw, L. S. Baskin, 

S. L. Carmichael. 

1886F A missense mutation in exon 2 of adiponectin 

receptor 2 is associated with serum insulin in 

overweight and obese African-American subjects. 

A. Doumatey, G. Chen, J. Zhou, H. Huang, A. Adeyemo, 

C. Rotimi. 

1887W Common variants associated with normal 

tension glaucoma and optic nerve degeneration 

are also associated with glaucoma in exfoliation 

syndrome. B. Fan, S. Loomis, J. H. Kang, D. Y. Wang, 

B. Yaspan, M. A. Hauser, L. R. Pasquale, J. L. Haines, 

J. L. Wiggs. 

1888T Genetic variants in selenoprotein P plasma 

1 gene (SEPP1) are associated with fasting insulin 

and first phase insulin response in Hispanics. J. N. 

Hellwege, N. D. Palmer, J. T. Ziegler, C. D. Langefeld, 

C. Lorenzo, J. M. Norris, T. Takamura, D. W. Bowden. 

1889F Replication of GWAS meta-analysis associations 

in a large Amish pedigree support VWF, ABO, STXBP5, 

STAB2, and SCARA5 as modifiers of VWF and FVIII 

levels. J. Hinckley, K. Wang, T. Burns, L. Law, A. Shapiro, 

J. Di Paola. 

1890W Mutation analysis in zinc finger protein 

isoform 1 (ZNF644) in cases with moderate and high 

myopia. N. Kaur, S. Saini, V. Vanita. 

1891T To study the association of peroxisome 

proliferator-activated receptor gamma (PPARG) gene 

polymorphism (p.Pro12Ala) with diabetic retinopathy. 

R. Kaur, S. Goyal, V. Vanita. 

1892F Association of the IL17 gene polymorphisms 

with lumbar disc disease. A. Kelempisioti, I. Daavittila, 

N. Noponen, S. Barral, J. Ott, J. Niinimaki, T. Koskelainen, 

L. Ala-Koko, J. Karppinen, M. Männikkö. 

1893W Association and interaction of polymorphisms 

in angiogenic genes with endometriosis. M. M. Latha, 

Q. Hasan, V. L. Kodati. 

1894T The HLA-DPB1 and DRB1 genes are 

synergistically associated with Graves disease in 

Han Chinese children. Y. Lee, C. Huang, W. Ting, F. Lo, 

T. Chang, C. Chu, Y. Wu, S. Chang, W. Lin, M. Lin. 

1895F Fine-mapping within regions of admixture 

linkage to sarcoidosis risk in African Americans. 

A. M. Levin, P. McKeigue, I. Datta, C. G. Montgomery, 

I. Adrianto, M. Colombo, M. C. Iannuzzi, B. A. Rybicki. 

1896W Fine-mapping of central adiposity loci using 

association results from multi-ethnic populations. 

C. Liu, CHARGE, GIANT, CARe, and African American 

Central Adiposity Consortia. 


POSTER SESSIONS


1897T Investigation of genetic variation in scavenger 

receptor class B, member 1 (SCARB1) and association 

with serum carotenoids. G. J. McKay, E. Loane, J. M. 

Nolan, S. Beatty, G. Silvestri. 

1898F Genetic analysis of FUS/TLS gene in essential 

tremor. K. Mirzozoda, N. Parmalee, S. Kisselev, N. Merner, 

P. Dion, G. Rouleau, E. D. Louis, L. Clark. 

1899W Genetic and functional data implicates BCHE 

as a novel vitiligo candidate gene. L. Nascimento, 

C. Castro, V. Fava, R. Werneck, M. Mira. 

1900T Targeted deep-resequencing of the CLDN1 

gene in African Americans for asthma. N. M. Rafaels, 

L. Huang, C. Vergara, R. Lewis, L. Gao, I. Ruczinski, 

T. H. Beaty, A. De Benedetto, L. A. Beck, R. A. Mathias, 

K. C. Barnes. 

1901F Targeted resequencing of SLE susceptible loci. 

E. Rai, B. Wakeland, C. Liang, P. Raj, K. Viswanathan, 

D. Karp, N. Olsen, I. Dozmorov, L. Davis, P. Doshi, Q. Z. Li, 

G. Wiley, K. Kaufman, J. A. Kelly, J. Harley, P. Gaffney, E. 

K. Wakeland. 

1902W Study of BMP4 gene in a Brazilian sample with 

congenital anomalies of kidney and urinary tract. 

G. S. Reis, A. C. S. Silva, T. R. Heilbuth, I. S. Freitas, L. A. 

de Marco, D. M. Miranda. 

1903T Detection of 4 new mutations related to oral 

clefts by direct sequencing. M. Simioni, T. K. de Araujo, 

R. G. Faria, C. V. Maurer-Morelli, V. L. Gil-da-Silva-Lopes. 

1904F Meta-analysis demonstrates that an 

interleukin-6 polymorphism is protective against 

preterm birth in women of European descent. W. Wu, 

E. Clark, G. Stoddard, S. Esplin, T. Manuck, J. Xing, 

M. Varner, L. Jorde. 

1905W Gender-specific association of the interleukin 

18 gene with gallstone disease. H. Yang, S. Shih, 

T. Chang, H. Wang, K. Hu, C. Chang, C. Chang, C. Hung, 

H. Chan, M. Lin, Y. Lee. 

1906T Search for new modifiers of disease severity 

in Jamaican sickle cell disease patients using wholeexome 

DNA sequencing. G. Lettre, G. Galarneau, 

M. Beaudoin, K. S. Lo, M. Reid, G. Serjeant, I. R. 

Hambleton, J. N. Hirschhorn, C. A. McKenzie. 

1907F Complex trait alleles are enriched for cellspecific 

chromatin marks. S. Raychaudhuri, G. Trynka, 

H. Xu, B. E. Stranger, X. S. Liu. 

1908W A regulatory variant in FZD6 gene contributes 

to nonsyndromic cleft lip and palate. J. Hecht, N. 

Cvjetkovic, L. Maili, A. M. Letra, M. Raia, E. C. Swindell, 

J. F. Teichgraeber. 

1909T Next-generation sequencing of unresolved 

Meckel syndrome pedigrees reveals a complex genetic 

makeup. K. Hopp, C. M. Heyer, J. L. Sundsbak, S. J. 

Koon, V. J. Kubly, V. E. Torres, P. C. Harris. 

1910F Role of the PRICKLE genes in neural tube 

defects in humans. R. Allache, V. Capra, M. Q. Wang, 

C. M. Bosoi, P. Drapeau, A. G. Bassuk, Z. Kibar. 

1911W Investigation of complex copy number 

polymorphisms and age-related macular degeneration. 

S. Cantsilieris, S. White, R. Guymer, P. Baird. 

1912T Identification of a pleiotropic effect locus 

associated with a composite CVD risk trait in the 

genetic isolate of Norfolk Island. L. R. Griffiths, M. 

Benton, H. Cox, C. Bellis, M. Carless, M. Hanna, D. 

Eccles, J. Blangero, R. A. Lea. 

1913F Association of BMI and waist-related genetic 

variants with visceral adipose tissue volume in the 

Family Heart Study. A. Justice, M. Graff, N. Franceschini, 

A. P. Reiner, M. F. Feitosa, J. J. Carr, J. G. Terry, P. Gordon- 

Larsen, M. K. Wojczynski, I. B. Borecki, K. E. North. 

1914W Follow up analyses of the APOL1/MYH9 locus 

and non-diabetic end stage renal disease (non-DM 

ESRD) in African Americans: The FIND Consortium. 

M. Li, FIND Consortium. 

1915T HLA typing of a large type 1 diabetes cohort 

using SNP genotyping of the extended MHC. 

J. Bradfield, D. S. Monos, H. Q. Qu, C. Kim, M. Rossman, 

K. D. Rosenman, S. F. A. Grant, C. Polychronakos, H. 

Hakonarson. 

1916F Systematic evaluation of validated type 2 

diabetes and glycemic trait loci for association with 

insulin clearance. M. O. Goodarzi, X. Guo, J. Cui, M. R. 

Jones, T. Haritunians, A. H. Xiang, Y. I. Chen, K. D. Taylor, 

T. A. Buchanan, W. A. Hsueh, L. J. Raffel, J. I. Rotter. 

1917W Whole genome sequencing to identify 

functional variants that contribute to type 2 diabetes 

and obesity in Pima Indians. K. Huang, C. Bogardus, 

L. Baier. 

1918T Tracking elusive modifier loci using identity-bydescent 

and influential alleles. E. Marchani, E. Wisjman. 

1919F Genetic dissection of Chiari type I malformation 

using stratified whole genome linkage approaches. 

C. Markunas, K. Soldano, K. Dunlap, H. Cope, E. Asiimwe, 

J. Stajich, D. Enterline, G. Grant, H. Fuchs, S. Gregory, A. 

Ashley-Koch. 

1920W Heritability and linkage analysis of the scale 

of aging vigor in epidemiology in the Long Life Family 

Study. J. L. Sanders, J. Singh, R. L. Minster, C. M. 

Kammerer, M. M. Barmada, E. W. Daw, M. Feitosa, 

R. Costa, N. Schupf, J. Walston, A. B. Newman. 

1921T Genome-wide linkage analyses of hematological 

phenotypes in Long Life Family Study. J. Singh, R. L. 

Minster, M. M. Barmada, E. W. Daw, B. Thyagarajan, 

K. Christensen, A. B. Newman, C. M. Kammerer. 

1922F Effect of DNA polymorphisms of apolipoprotein 

B gene on lipid homeostasis in obese Egyptians. G. El- 

Kannishy, R. Elbaz, A. Wafa, H. AbdElHafez, A. Settin. 


1923W Identification of genes influencing serum levels 

of brain-derived neurotrophic factor in large Mexican 

American pedigrees. M. A. Almeida, J. M. Peralta, J. W. 

Kent, J. E. Curran, T. D. Dyer, G. Juan, T. M. Teslovich, 

C. Fuchsberger, A. R. Wood, T. M. Frayling, P. Cingolani, 

T. W. Blackwell, R. Sladek, G. Atzmon, J. Laramie, S. Lincoln, 

D. M. Lehman, G. Abecasis, L. A. Almasy, R. Duggirala, 

D. C. Glahn, J. Blangero. 

1924T First genome-wide analysis in pediatric multiple 

sclerosis (MS) confirms a role for adult MS risk 

variants and reveals new candidates. L. F. Barcellos, J. 

R. Oksenberg, E. Elboudwarej, H. Quach, F. Briggs, 

A. Belman, A. Chokkalingam, P. A. Buffler, L. Krupp, 

E. Waubant. 

1925F Metabochip analysis in over 12,000 African 

Americans identifies several variants associated with 

metabolic syndrome: Results from the Population 

Architecture using Genomics and Epidemiology (PAGE) 

Study. C. L. Carty, J. Haessler, I. Cheng, V. Aroda, 

T. Thornton-Wells, C. N. Hsu, S. Liu, R. Jackson, C. 

Carlson, L. A. Hindorff, L. LeMarchand, J. S. Pankow, 

U. Peters, K. E. North, C. Kooperberg. 

1926W Power of population diversity and positive 

selection in probing the biology of asthma disparities. 

G. Dunston, T. Mason, L. Ricks-Santi. 

1927T Conditional analysis identifies three novel 

major histocompatibility complex loci associated with 

psoriasis. J. Knight, S. L. Spain, F. Capon, J. N. Barker, 

M. E. Weale, R. C. Trembath, WTCCC2, Genetic Analysis 

of Psoriasis Consortium, I-chip for Psoriasis Consortium. 

1928F Prevalence of MYH9 common variants 

associated with non-diabetic end-stage renal disease 

and chronic kidney disease in the diverse National 

Health and Nutrition Examination Surveys as part of 

the Epidemiologic Architecture for Genes Linked to 

Environment (EAGLE). S. Wilson, K. Brown-Gentry, N. 

Gillani, H. Jin, B. McClellan, J. Boston, C. Sutcliffe, H. 

Dilks, D. Crawford. 

1929W Both classical and non-classical human 

leukocyte antigen (HLA) loci in the HLA region 

contribute to Graves disease susceptibility. P. Chen, 

W. Yang, T. Chang. 

1930T Fine mapping on chromosome 10q24.2 implicates 

ADD3 in biliary atresia. M.-M. Garcia-Barceló, G. Cheng, 

C. S. M. Tang, X. L. Liu, R.Z. Zhang, M. T. So, E. H. M. 

Wong, P. H. Y. Chung, I. H. Y. Chan, J. Liu, W. Zhong, H. Xia, 

J. Yu, K. K. Y. Wong, S. S. Cherny, P. C. Sham, P. K. H. Tam. 

1931F Whole exome sequencing and subsequent 

association studies reveals novel candidate variants 

associated with severe types of alopecia areata. 

S. Lee, C. Park, O.-S. Kwon, J.-I. Kim, J. S. Seo. 

1932W Next-generation sequencing of 11 targeted 

genes show serum urate levels and gout age of onset 

are influenced by both rare and common variants. A. 

Tin, L. C. Shimmin, A. Kottgen, E. Boerwinkle, J. Coresh, 

J. E. Hixson, W. H. Kao. 


1933T Genetic variation in vitamin D pathway genes 

impacts serum vitamin D deficiency and cardiometabolic 

traits in individuals with and without type 

2 diabetes. T. R. Braun, L. F. Been, P. R. Blackett, D. K. 

Sanghera. 

1934F Coding variants at a single multiallelic amino 

acid position of a HLA class II gene influence follicular 

lymphoma risk in Europeans and Asians. J. N. Foo, 

K. E. Smedby, P. I. W. de Bakker, I. D. Irwan, H. Darabi, 

X. Jia, L. Padyukov, D. E. K. Tan, H. Hjalgrim, A. Seow, 

K. Humphreys, J. J. Liu. 

1935W Common polymorphisms of dopamine 

D2 receptor (DRD2) gene are not associated with 

adolescent obesity, but with hyperinsulinemia. N. Col 

Araz, M. Nacak, S. Oguzkan Balci, N. Benlier, S. Pehlivan, 

A. Balat, M. Araz. 

1936T Association analysis of chromosome 3q markers 

in nonsyndromic cleft lip/palate. A. Letra, M. Cooper, 

T. McHenry, E. Czeizel, F. W. B. Deleyiannis, L. Ma, E. E. 

Castilla, F. Poletta, L. L. Field, A. R. Vieira, R. M. Silva, 

M. L. Marazita. 

1937F Genotype-phenotype correlations of facial 

shape and asymmetry in unaffected relatives of 

children with non-syndromic cleft lip/palate and 

controls. S. Miller, N. Nidey, S. Weinberg, M. L. Marazita, 

J. C. Murray, G. L. Wehby, L. M. Moreno. 

1938W Cannabinoid receptor-1 (CNR-1) gene 1359G/A 

polymorphism is related with childhood obesity, but 

not with insulin resistance. M. Nacak, N. Col Araz, 

S. Oguzkan Balci, N. Benlier, S. Pehlivan, A. Balat, 

M. Araz. 

1939T Altered expression but no genetic association of 

the epidermal transglutaminases in atopic dermatitis. 

M. C. G. Winge, A. Lieden, A. Sääf, I. Kockum, E. Ekelund, 

E. Rodriguez, T. Hoppe, R. Fölster-Holst, A. Franke, M. 

Tengvall-Linder, H. Baurecht, S. Weidinger, C. F. Wahlgren, 

M. Nordenskjöld, M. Bradley. 

1940F Genetic variation and epigenetic modification of 

TACR1 gene are associated with postoperative nausea 

and vomiting in surgical patients. T. Hayase, S. Sugino, 

M. Yamakage. 

1941W Identification of a novel 1p31 locus 

associated with the combined asthma plus allergic 

rhinitis phenotype through positional cloning 

in asthma-ascertained families. M.-H. Dizier, P. 

Margaritte-Jeannin, A.-M. Madore, I. Annesi-Maesano, 

J. Just, F. Kauffmann, C. Laprise, M. Lathrop, E. 

Bouzigon, F. Demenais. 

1942T Dense genotyping of six atopic dermatitis and 

180 autoimmune risk loci in 2,425 atopic dermatitis 

patients. D. Ellinghaus, E. Rodríguez, H. Baurecht, 

J. Esparza Gordillo, Y.-A. Lee, S. Cichon, C. Gieger, 

H.-E. Wichmann, R. Duerr, C. Büning, S. Brand, 

S. Schreiber, S. Weidinger, A. Franke. 


POSTER SESSIONS


1943F Identification of functional variants in 

FOXO3A, a confirmed candidate gene influencing 

human longevity: Genetic investigation requires 

special attention to sequence homology with 

FOXO3B. F. Flachsbart, L. Gentschew, C. Däumer, 

N. Badarinarayan, A. Caliebe, M. Krawczak, S. Schreiber, 

A. Nebel. 

1944W PDGFRa mutations in humans with isolated cleft 

palate. V. Shotelersuk, S. Rattanasopha, S. Tongkobpetch, 

C. Srichomthong, P. Siriwan, K. Suphapeetiporn. 

1945T Copy-number variation in chromosome 5q31- 

33 is associated with Graves’ disease susceptibility. 

X. Chu, M. Shen, Y. Bai, F. Xie, W. Huang. 

1946F Genetic analysis of HLA-G gene: Association 

study in a Brazilian cohort relating the 14bp indel 

frequencies in a psoriasis case/control study. 

G. Debortoli, B. S. Almeida, A. Firmino, D. H. Nunes, 

M. M. Sens, V. P. M. da Silva, A. R. Marrero, Y. C. N. 

Muniz, I. R. Souza. 

1947W Lung eQTL in the major histocompatibility 

complex. M. Lamontagne, C. Couture, M. Laviolette, 

Y. Bossé, Merck-Laval-UBC-Groningen Lung eQTL 

Consortium. 

1948T Rare TLR pathways gene variants and 

susceptibility to invasive pneumococcal disease: 

A population-based study. K. S. Elliott, M. K. Ellis, 

A. Rautanen, M. A. Rivas, D. W. Crook, A. V. S. Hill, 

S. J. Chapman. 

1949F Association of VPS26 variants with 

susceptibility to infection by Leishmania in Brazil, 

Iran and Sudan. A. Romano, H. Dessein, A. Muller, 

F. Santoro, A. Salhi, S. Rafati, S. El Saafi, J. P. Gorvel, 

L. Argiro, A. Dessein. 

1950W MTHFR 677 C.T polymorphism does not 

influence the risk of polycystic ovarian syndrome. 

S. Rajender, J. Carlus, K. Singh, K. Thangaraj. 

1951T Mapping of a novel locus modifying glaucoma 

severity within the GLC1K region at 20p12. P. Belleau, 

S. Dubois, K. Lebel, R. Arseneault, E. Shink, J. L. Anctil, 

G. Côté, M. A. Walter, M. Amyot, V. Raymond. 

1952F Fine-mapping of eight psoriasis susceptibility 

loci. S. Das, P. E. Stuart, J. Ding, T. Tejasvi, Y. Li, L. C. 

Tsoi, V. Chandran, J. Fischer, C. Helms, K. C. Duffin, 

J. J. Voorhees, A. M. Bowcock, G. G. Krueger, G. M. 

Lathrop, R. P. Nair, P. Rahman, G. R. Abecasis, 

D. Gladman, J. T. Elder. 

1953W Association of markers in DOCK6 with total 

cholesterol concentration in American Indians. 

J. K. DiStefano, M. Khosroheidari, E. Eddy, S. Kobes, 

W. C. Knowler, R. L. Hanson. 

1954T Fine-scale genetic mapping reveals multiple 

signals of association in waist-hip ratio loci and shows 

evidence of sexually dimorphic genetic effects. 

T. Ferreira, D. Shungin, D. C. Croteau-Chonka, 

T. W. Winkler, A. E. Locke, R. Mägi, R. J. Strawbridge, 

T. Workalemahu, K. Fischer, J. Wu, A. U. Jackson, F. Day, 

M. C. Zillikens, A. E. Justice, H. Völzke, I. Barrsos, 

C. S. Fox, E. Ingelsson, M. I. McCarthy, E. K. Speliotes, 

P. W. Franks, L. Qi, J. N. Hirschhorn, R. J. F. Loos, K. E. 

North, I. M. Heid, L. A. Cupples, A. P. Morris, K. L. Mohlke, 

C. M. Lindgren on behalf of Genetic Investigation of 

ANthropometric Traits (GIANT) Consortium. 

1955F The FTO gene polymorphisms are associated 

with obesity in the Chinese population: The SAPPHIRe 

follow-up study. C.-M. Hwu, M.-W. Lin, P.-T. Tsai, 

C.-A. Hsiung, L.-M. Chuang, W. H.-H. Sheu, Y.-R. Hung, 

L.-T. Ho. 

1956W Consanguinity in Pakistani families reveals new 

loci in a complex genetic trait: Stuttering. M. H. Raza, 

R. Amjad, S. Riazuddin, D. Drayna. 

1957T Genome-wide linkage scan of male sexual 

orientation. A. R. Sanders, K. Dawood, G. Rieger, J. A. 

Badner, E. S. Gershon, R. S. Krishnappa, A. B. Kolundzija, 

S. Guo, G. W. Beecham, E. R. Martin, J. M. Bailey. 

1958F Linkage studies in a large stuttering family 

indicate multiple novel loci and possible assortative 

mating. A. A. Schaffer, M. H. Raza, E. M. Gertz, 

J. Mundorff, J. Lukong, J. Kuster, D. Drayna. 

1959W Fine mapping of 6q27 for association with 

blood pressure. B. Tayo, B. Salako, A. Luke, X. Zhu, 

A. Adeyemo, C. Rotimi, A. Ogunniyi, R. Cooper. 

1960T Efficient pooled sequencing of 1,077 candidate 

genes in individuals with short stature. S. R. Wang, 

D. B. Mirel, A. Dauber, J. N. Hirschhorn. 

1961F Molecular analysis of common tag 

polymorphisms in hemochromatosis (HFE) genes in 

Iranian patients affected with PCOS. S. Matoo, A. Yasari 

Mazandarani, N. Hatamnejadian, B. Sedaghati Khayat, 

M. Moghaddam, A. Ebrahimi. 

1962W Molecular analysis of hepcidin common 

polymorphisms in Iranian patients affected with PCOS. 

A. Yasari Mazandarani, S. Matoo, N. Hatamnejadian, 

B. Sedaghati Khayat, M. Moghaddam, A. Ebrahimi. 

1963T Mitochondrial haplogroups and age-related 

maculopathy. Y. P. Conley, Y. Jiang, M. C. Kenney, 

N. Udar, R. E. Ferrell, D. E. Weeks, M. B. Gorin. 

1964F Candidate genes as a modifier of age at 

Huntington disease motor onset. E. M. Ramos, 

J. Latourelle, J.-H. Lee, T. Gillis, J. S. Mysore, J. F. Gusella, 

J.-M. Lee, I. Alonso, J. Sequeiros, R. H. Myers, M. E. 

MacDonald. 


1965W Variations in potassium channel genes are 

associated with persistent breast pain after breast 

cancer surgery. D. J. Langford, B. McCann, T. Koetters, 

C. Baggott, C. West, J. D. Levine, C. Elboim, G. Abrams, 

D. Hamolsky, L. Dunn, H. Rugo, M. Dodd, S. M. Paul, 

J. Neuhaus, B. A. Cooper, B. Schmidt, J. Cataldo, 

A. Dhruva, B. E. Aouizerat. 

1966T HLA haplotypes influence hearing in old age. 

T. Solomon, D. L. Newman. 

1967F A Y chromosome association study in 

inflammatory bowel disease. L. Jostins, C. A. Anderson, 

J. C. Barrett, International IBD Genetics Consortium. 

1968W Prevalence of alpha-1 antitrypsin deficiency 

and hereditary hemochromatosis gene mutations in 

Algarve, Portugal. V. Gaio, A. Fernandes, F. Mendonça, 

F. Orta Correia, A. Beleza, A. Gil, M. Bourbon, A. M. 

Vicente, C. M. Dias, M. Barreto da Silva. 

1969T Menarche timing-related variants identified by 

recent GWAS are associated with growth outcomes in 

male and female children. C. He, E. Wagner, G. Eckert, 

Z. Yu, H. Pratt, W. Tu. 

1970F Haplotypes of the inducible nitric oxide synthase 

gene are strongly associated with levels of exhaled 

nitric oxide in adults: A population-based study. 

S. Dahgam, L. Modig, A. T. Naluai, A. C. Olin, F. Nyberg. 

1971W Identification of genetic factors for 

chronic otitis media with effusion using a targeted 

resequencing approach. E. Allen, J. Mychaleckyj, X. Hou, 

W. Chen, A. Quinlan, K. Keene, S. Rich, K. Daly, M. Sale. 

1972T Genetic polymorphisms of long pentraxin-3 are 

associated with polypoidal choroidal vasculopathy and 

exudative age-related macular degeneration. 

J. H. Chen, Y. Yang, Y. Zheng, C. Xu, W. Chen, M. Zhang, 

H. Chen, C. P. Pang. 

1973F Contribution of the reading disability risk locus 

DYX2 and dopamine signaling factors ANKK1/DRD2 to 

language impairment and brain imaging phenotypes. J. 

D. Eicher, N. R. Powers, L. L. Miller, K. L. Mueller, 

J. B. Tomblin, S. M. Ring, J. R. Gruen, Pediatric Imaging 

Neurocognition Genetics Study. 

1974W The maternal folate hydrolase gene 

polymorphism is associated with neural tube defects 

in a high-risk Chinese population. J. Guo, J. H. Wang, H. 

Xie, H. Z. Zhao, F. Wang, C. Liu, L. Wang, X. L. Lu, 

Y. H. Bao, J. Z. Zou, G. L. Wang, B. Niu, T. Zhang. 

1975T Association study of NPR3 polymorphisms with 

aspirin exacerbated respiratory disease. J. H. Kim, 

B. L. Park, C. S. Park, H. D. Shin. 

1976F Identification of DNA variants in 11 candidate 

genes for developmental dyslexia by next-generation 

sequencing. H. Matsson, E. Tiraboschi, M. Huss, 

J. Noppola-Hemmi, H. Lyytinen, P. H. T. Leppanen, 

N. Neuhoff, A. Warnke, G. Schulte-Körne, M. M. Nöthen, 

J. Schumacher, M. Peyrard-Janvid, J. Kere. 


1977W Sequencing of IL10 in Behçet’s disease 

patients. I. Sousa, J. M. Xavier, N. Rei, F. Barcelos, 

P. Abrantes, J. Vedes, G. Jesus, M. Salgado, F. Fontes, 

J. V. Patto, J. Crespo, S. A. Oliveira. 

1978T Variants of XBP1 are associated with vitiligo 

in the presence of autoimmunity. R. G. Tarlé, L. M. 

Nascimento, C. C. S. De Castro, R. I. Werneck, V. M. Fava, 

M. T. Mira. 

1979F Genetic association of SLE with CD247 (CD3z). 

M. Martins, A. H. Williams, M. E. Alarcón-Riquelme, 

J. M. Anaya, S. C. Bae, S. A. Boackle, L. A. Criswell, 

G. S. Gilkeson, D. L. Kamen, C. O. Jacob, J. A. James, 

J. A. Kelly, K. L. Moser, R. H. Scofield, R. P. Kimberly, 

J. C. Edberg, L. M. Vila, M. Petri, R. Ramsey-Goldman, 

M. E. Comeau, J. Ziegler, M. C. Marion, J. T. Merrill, 

T. B. Niewold, B. P. Tsao, B. I. Freedman, S. B. Glenn, 

J. B. Harley, C. D. Langefeld, C. Fesel. 

1980W Estrogen receptor beta genetic variants are 

associated with intraocular pressure elevation in 

women. F. Mabuchi, Y. Sakurada, K. Kashiwagi, 

Z. Yamagata, H. Iijima, S. Tsukahara. 

1981T Expression of alternatively spliced transcripts of 

MAP2K4 gene in rheumatoid arthritis. K. Shchetynsky, 

M. Ronninger, L. Padyukov. 

1982F RNA-seq survey of human lymphoid and myeloid 

cells: A resource for identifying causal genes in 

validated immune-mediated disease loci. S. Foisy, 

C. Beauchamp, A. Alikashani, F. Latour, M. Ladouceur, 

S. Lessage, J. D. Rioux. 

1983W Preliminary data suggest an upstream 

IRX1 sequence variant identified in a family with 

kyphoscoliosis disrupts the wild-type expression 

pattern in zebrafish. C. M. Justice, K. Bishop, 

B. Carrington, P. Cruz, K. Swindle, R. Sood, N. H. Miller, 

A. F. Wilson, NISC Comparative Sequencing Program. 

1984T Phenotypic analysis of peptidylarginine 

deiminase type 4 knockout mice. A. Suzuki, Y. Kochi, 

H. Shoda, K. Fujio, E. Kanno, T. Sawada, R. Yamada, 

K. Yamamoto. 

1985F Rs34424835 PGRN gene variation a possible 

modifier in frontotemporal lobar degeneration. E. Vitale, 

A. Iuliano, A. Polverino, V. Agosti, C. Vitale, A. Postiglione, 

P. Sorrentino, S. Pappatà, G. Milan, G. Sorrentino. 

1986W Proteomic analysis of Shank3 overexpression 

in mouse neuroblastoma cultures showed 

differentially expressed proteins involved in glycolysis, 

cytoskeleton,biosynthetic and cell cycle processes, and 

ubiquitin-proteasome. N. Zhong, W. Ju, W. Yan, X.-L. Zhao, 

E. C. Jenkins, W. T. Brown, Y. Wang, J. H. Zhou. 

1987T Transcription factor profile of a single nucleotide 

polymorphism located -224 A/G in neuropeptide 

receptor Y2 (NPY2R) gene in predisposition to 

hypertension. E. Albino, K. Sugimoto, T. Katsuya, 

A. Deng, J. Dutil. 


POSTER SESSIONS


1988F Functional assessment of CRY2 type II diabetes 

variants using a targeted circadian luciferase assay. 

J. Lane, A. Tare, C. Cowan, R. Saxena. 

1989W Modification of endothelial progenitor 

cell recruitment by tyrosinase in oxygen-induced 

retinopathy. B. E. O’Bryhim, R. S. White, R. C. A. Symons. 

1990T Understanding the impact of body mass index 

and associated SNPs on serum metabolites. J. Kumar, 

R. Karlsson, J. Prince, M. Hong, C. Broeckling, J. Prenni, 

E. Ingelsson, F. Wiklund. 

1991F Biological processes of human development and 

genome-wide linkage disequilibrium. I. Culminskaya, 

A. Kulminski, A. Yashin. 

1992W The type 1 diabetes gene CLEC16A functions 

in NK cells to restrain secretory functions including 

cytokine release and cytotoxicity. M. Bakay, R. Pandey, 

A. Mohamed-Hadley, P. Banerjee, H. H. Hakonarson. 

1993T Influence of ethnicity with type 2 diabetes in 

association of UCP2 -866G/A, PGC1a (Gly 482 Ser) and 

SIRT1 -1400T/C polymorphisms in North Indian Punjabi 

population groups. A. Bhanwer, N. Kaul, R. N. K. Bamezai. 

1994F Allelic variation in the protein stability of 

HLA shapes genetic association of HLA with type 1 

diabetes. H. Miyadera, J. Ohashi, K. Tokunaga. 

1995W Functional characterization of gene regulatory 

elements associated with epilepsy. R. Y. Birnbaum, 

Y. Zhang, C. Wei, N. Ahituv. 

1996T Differential behavior of splice isoforms of the 

asthma susceptibility gene DENND1B. M. E. March, 

P. M. A. Sleiman, C. Hou, J. Bradfield, C. E. Kim, 

E. Frackelton, J. T. Glessner, H. Hakonarson. 

1997F Targeted resequencing identifies secretiondefective 

variants of decoy receptor 3 in pediatric-onset 

inflammatory bowel disease. C. J. Cardinale, 

S. Panossian, F. Wang, E. Frackelton, C. E. Kim, 

F. D. Mentch, R. M. Chiavacci, K. E. Kachelries, R. Pandey, 

S. F. A. Grant, R. N. Baldassano, H. Hakonarson. 

1998W A population-based immunologic phenotype 

study for the identification of high risk individuals to 

childhood infectious diseases in Vietnam. R. Miyahara, 

L. M. Yoshida, H. Nakamura, K. Takahashi, X. M. Trinh, 

D. A. Dang, N. H. Tran, K. Ariyoshi, M. Yasunami. 

1999T A birth-cohort study for the identification of 

genetic risk for childhood infectious diseases in 

Vietnam. M. Yasunami, L. M. Yoshida, R. Miyahara, 

H. Nakamura, K. Takahashi, H. Moriuchi, D. A. Dang, 

N. H. Tran, K. Ariyoshi. 

2000F Variant genotypes of PKR1 and PKR2 in patients 

of recurrent pregnancy loss. M. Su, L. Wu, P. Kuo. 

2001W Post GWAS analysis of the BCL11A intronic 

region to define its role in regulating HbF levels. 

F. Anedda, S. Sanna, I. Asunis, G. Usala, F. Danjou, 

L. Perseu, A. Cabriolu, C. A. Caria, L. Porcu, M. G. Marini, 

M. Marongiu, C. Sidore, R. Berutti, M. Pala, A. Angius, 

F. Busonero, A. Maschio, S. Satta, F. Demartis, L. Maccioni, 

A. Meloni, R. Nagaraja, G. Abecasis, D. Schlessinger, 

M. S. Ristaldi, R. Galanello, P. Moi, F. Cucca, S. Sanna, 

M. Uda. 

2002T Additional patients and an association study 

support a role of SOX9 in CD-ACD-PRS phenotypic 

continuum and in CPO. M. Quentric, L. Desmyter, 

M. Ghassibe, W. Courtens, S. Kivirikko, H. Antoine-Poirel, 

G. Ameye, B. Bayet, G. Francois, R. Vanwijck, O. Boute, 

P. Pellerin, M. Rubini, M. Vikkula. 

2003F The impact of amino acid polymorphisms 

in four genes of the tumor necrosis factor (TNF) 

and interferon-gamma pathways on BCG-triggered 

production of TNF. T. Yu, L. de Léséleuc, A. Cobat, 

L. Simkin, G. F. Black, K. Stanley, P. van Helden, L. Abel, 

A. AlcaÔs, E. G. Hoal, E. Schurr. 

2004W Functional variants of NFKBIE and RTKN2 genes 

are associated with rheumatoid arthritis susceptibility 

in Japanese. K. Myouzen, Y. Kochi, 

Y. Okada, C. Terao, A. Suzuki, K. Ikari, T. Tsunoda, 

A. Takahashi, M. Kubo, A. Taniguchi, F. Matsuda, 

K. Ohmura, S. Momohara, T. Mimori, H. Yamanaka, 

N. Kamatani, R. Yamada, Y. Nakamura, K. Yamamoto. 

2005T Resequencing ITGAM reveals two functionally 

deleterious rare variants in systemic lupus 

erythematosus cases. A. L. Roberts, E. R. A. Thomas, 

S. Bhosle, L. Game, O. Obraztsova, T. J. Aitman, 

T. J. Vyse, B. Rhodes. 

2006F DcR3 mutations in systemic lupus 

erythematosus patients lead to enhanced lymphocyte 

proliferation. K. Suphapeetiporn, C. Chokdeemeeboon, 

P. Ammarinthnukrowh, S. Tongkobpetch, C. Srichomthong, 

T. Deekajorndech, P. Rianthavorn, P. Kingwattanakul, 

Y. Avihingsanon, V. Hoven, S. Edwards, N. Hirankarn, 

V. Shotelersuk. 

2007W A CD14 promoter polymorphism is implicated 

in tuberculosis susceptibility in a South African 

population. M. Möller, C. Wagman, M. Daya, 

C. Kok, L. van der Merwe, P. D. van Helden, E. G. Hoal. 

2008T Effects of IL9 and IL9 receptor gene 

polymorphisms on allergic rhinitis in Iranian females. 

F. Fatahi, H. Khazraee, K. Ghatreh, M. Hashemzadeh. 

2009F TRIB1 is involved in the susceptibility of nonalcoholic 

fatty liver disease. S. Iwamoto, Y. Ishizuka, Y. 

Kitamura, S. Makishima, S. Boonvisut, K. Nakayama. 

2010W Alleles of a rapidly-evolving ETV6 binding 

site in DCDC2 confer risk of reading and language 

impairment. N. R. Powers, J. D. Eicher, F. Butter, 

L. L. Miller, S. M. Ring, M. Mann, J. R. Gruen. 


2011T Polymorphisms in phosphatidylethanolamine 

N-methyltransferase (PEMT) gene associates with 

obesity and gene expression. S. K. Das, K. A. Langberg, 

A. K. Mondal, N. K. Sharma. 

2012F Identification of a cis regulatory variant that 

binds a transcriptional repressor complex including 

PDX1 at the JAZF1 type 2 diabetes locus. M. P. Fogarty, 

T. M. Panhuis, S. Vadlamudi, M. L. Buchkovich, 

K. L. Mohlke. 

2013W Investigation of mtDNA mutations in nonsyndromic 

hearing loss patients in Fars Province, Iran, 

using PCR- RFLP procedure. S. Heydari Sodejani, 

M. Montazer Zohori, E. Farokhi, A. Shirmardi, G. Banitalebi, 

S. Reisi, M. Abolhasani, M. Akbari, M. Hashemzadeh. 

2014T Genetic and environmental predictors of serum 

vitamin D3 levels in African Americans. R. A. Kittles, 

K. Batai, E. Shah, M. Ruden, J. Newsome, S. Agate, 

A. Murphy, H. Y. Chen. 

2015F Vitamin D receptor ChIP-seq in human CD 41 

T-cells and association with multiple sclerosis. 

A. Handel, G. Disanto, G. Giovannoni, G. Ebers, 

S. Ramagopalan. 

2016W Gene-gene interaction in disease association 

for systemic lupus erythematosus in Asian 

populations. J. Yang, Y. Zhang, X. Zhang, Y. Lau, W. Yang. 

2017T Prevalence of diabetes-associated gene 

variants and its association with blood glucose levels 

in the Algarve population, Portugal. M. Barreto da Silva, 

V. Gaio, A. Fernandes, F. Mendonça, F. Orta Gomes, 

A. Beleza, A. Gil, M. Bourbon, A. M. Vicente, C. M. Dias. 

2018F Genome-wide methylation analysis of DNA 

from offspring exposed to a diabetic intrauterine 

environment. M. del Rosario, R. L. Hanson, V. Ossowsky, 

W. C. Knowler, C. Bogardus, L. J. Baier. 

2019W HNF1a and ABCA1 genes polymorphisms in 

gestational diabetes mellitus. E. Zamarron-Licona, 

M. C. Martinez-Lopez, R. Diaz-Martinez. 

2020T External sources of vitamin D modify the effects 

of the GC and CYP2R1 genes on 25-hydroxyvitamin 

D concentrations: CAREDS. C. D. Engelman, K. J. Meyers, 

S. K. Iyengar, Z. Liu, C. Karki, R. P. Igo, Jr., B. Truitt, J. 

Robinson, G. E. Sarto, R. Wallace, L. Tinker, 

E. LeBlanc, Y. Song, J. A. Mares, A. E. Millen. 

2021F Mapping variation in the response to vitamin D 

in peripheral blood. C. Jeong, J. C. Maranville, S. Baxter, 

A. Di Rienzo. 

2022W The interaction between adolescent parental 

knowledge and genetic risk for alcohol dependence 

predicts adult alcohol dependence. J. L. Meyers, J. E. 

Salvatore, R. J. Rose, J. Kaprio, D. M. Dick. 


2023T Association study of FUT2 (rs601338) with celiac 

disease and inflammatory bowel disease in the Finnish 

population. A. S. Parmar, N. Alakulppi, P. Paavola- 

Sakki, K. Kurppa, L. Halme, M. Färkkilä, U. Turunen, M. 

Lappalainen, K. Kontula, K. Kaukinen, M. Mäki, 

K. Lindfors, J. Partanen, P. Sistonen, J. Mättö, P. Wacklin, 

P. Saavalainen, E. Einarsdottir. 

2024F Identifying novel gene-environment interactions 

for HDL-cholesterol. L. Parnell, K. Richardson, C. Q. Lai, 

J. M. Ordovas. 

2025W Genetically-determined differences in arsenic 

metabolism efficiency influence risk for arsenic-induced 

skin lesions: A Mendelian randomization study. B. Pierce, 

L. Tong, M. Argos, F. Jasmine, M. Kibriya, H. Ahsan. 

2026T The ubiquitin proteasome system: Geneenvironment 

interactions in Parkinsons disease. 

S. Rhodes, B. Ritz. 

2027F Genetic trade-offs may explain some paradoxes 

of genetics of human longevity. S. Ukraintseva, K. 

Arbeev, A. Kulminski, I. Akushevich, D. Wu, A. Yashin. 

2028W Interaction analysis of exogenous estrogen in 

age-related macular degeneration: New gene-based 

2-degree-of-freedom joint test finds joint effects 

within the VEGF signaling pathway. M. D. Courtenay, 

W. H. Cade, P. L. Whitehead, S. G. Schwartz, J. L. Kovach, 

G. Wang, A. Agarwal, J. L. Haines, M. A. Pericak-Vance, 

W. K. Scott. 

2029T Heritability and host SNP associations of 

microbial species in the human gut. J. K. Goodrich, 

R. Blekhman, J. T. Bell, T. D. Spector, A. G. Clark, 

R. E. Ley. 

2030F SNPs for BMI demonstrate consistent results 

through the lifecourse. N. Heard-Costa, L. D. Atwood, 

C. Jaquish, C. T. Liu, L. A. Cupples, C. S. Fox. 

2031W Examining the roles of diet, age, and sex on the 

composition of the human fecal microbiome. 

E. R. Davenport, O. Mizrahi-Man, L. B. Barreiro, C. Ober, 

Y. Gilad. 

2032T Gene-to-gene interaction in the development of 

gout. A. Taniguchi, W. Urano, N. Ichikawa, H. Yamanaka. 

2033F The genetic basis of preeclampsia in 

populations adapted to high altitude. P. Ortiz-Tello, 

K. Sandoval Mendoza, V. Villanueva Dávalos, A. Moreno 

Estrada, J. Manzaneda, F. Manzaneda, A. McKenney, 

L. Enriquez Lencinas, C. Bustamante, J. Baker. 

2034W The effect of race, sex, age, socioeconomic, 

behavioral factors, and genetics on dental caries in 

different tooth surfaces. D. Lewis, E. Feingold, Z. Zeng, 

J. Shaffer, X. Wang, R. Weyant, D. W. McNeil, M. Marazita. 

2035T Telomere length in human blood cells and the 

prediction of survival. J. Deelen, M. Beekman, V. Codd, 

H. E. D. Suchiman, A. J. M. de Craen, N. J. Samani, 

J. J. Houwing-Duistermaat, P. E. Slagboom. 


POSTER SESSIONS


2036F Early life infection associated with shorter adult 

blood telomere lengths in Cebu, the Philippines. D. T. A. 

Eisenberg, J. Borja, M. G. Hayes, C. W. Kuzawa. 

2037W Characterization and generalization of HFE 

rs1800562 genotype-phenotype relationships in the 

diverse National Health and Nutrition Examination 

Surveys as part of the Epidemiologic Architecture for 

Genes Linked to Environment. K. Brown-Gentry, 

B. Niloufar, J. Hailing, B. McClellan, J. Boston, C. Sutcliffe, 

H. Dilks, D. Crawford. 

2038T Analysis of established type 2 diabetes 

associated variants in American Indians. R. Hanson, 

S. Kobes, W. Knower, C. Bogardus, L. Baier. 

2039F Describing the contribution of multiple sclerosis 

genetic risk factors in Sardinian multiple sclerosis 

cases. A. Hadjixenofontos, L. Foco, V. Bakthavachalam, 

P.-A. Gourraud, A. Ticca, P. Bitti, R. Pastorino, 

L. Bernardinelli, J. L. McCauley. 

2040W Heritability and linkage analysis of the Health 

Aging Index in the Long Life Family Study. M. M. Barmada, 

J. L. Sanders, A. M. Matteini, K. Christensen, R. Mayeux, 

T. Perls, I. Borecki, Q. Zhang, A. B. Newman, Long Life 

Family Study. 

2041T Genetic determinants of age-related macular 

degeneration in diverse populations: The Population 

Architecture using Genomics and Epidemiology Study. 

N. Restrepo, K. Spencer, R. Goodloe, T. Garrett, G. Heiss, 

P. Buzkova, N. Jørgensen, R. Jensen, T. Matise, B. Klein, 

R. Klein, W. Tien Yin, B. Cornes, E. Shyong Tai, M. Ritchie, 

J. Haines, D. Crawford. 

2042F Genetic variation and age at natural menarche 

and menopause in African American women from 

the Population Architecture using Genomics and 

Epidemiology (PAGE) Study. J. Malinowski, K. L. Spencer, 

C. L. Carty, N. Franceschini, L. Fernández-Rhodes, 

A. Young, I. Cheng, M. D. Ritchie, C. A. Haiman, L. Wilkens, 

C. Wu, T. C. Matise, C. S. Carlson, K. Brennan, A. Park, 

A. Rajkovic, L. A. Hindorff, S. Buyske, D. C. Crawford. 

2043W African ancestry is a risk factor for asthma and 

high total IgE levels in African admixed populations. 

C. I. Vergara, T. Murray, N. Rafaels, R. Lewis, M. Campbell, 

C. Foster, L. Gao, M. Faruque, R. Riccio Oliveira, E. Carvalho, 

M. I. Araujo, A. A. Cruz, H. Watson, D. Mercado, J. Knight- 

Madden, I. Ruczinski, G. Dunston, J. Ford, L. Caraballo, 

T. Beaty, R. A. Mathias, K. C. Barnes. 

2044T Validation of the HELIC population isolate 

collections as cohorts for complex trait association 

mapping. E. Zeggini, I. Tachmazidou, A. Farmaki, 

L. Southam, N. W. Rayner, K. Daoutidou, A. Kolb- 

Kokocinski, K. Panoutsopoulou, E. Tsafantakis, 

M. Karaleftheri, G. Dedoussis. 

2045F Evidence of natural selection at Crohn’s GWAS loci 

based on population genetic variation. B. M. P. M. Bowen, 

J. H. Cho. 

2046W Genetic associations with serologic autoimmunity 

in a large multi-ancestral systemic lupus erythematosus 

cohort. S. N. Kariuki, B. S. Franek, A. A. Kumar, M. Kumabe, 

K. M. Kaufman, J. M. Anaya, M. E. Alarcón-Riquelme, 

S. C. Bae, E. E. Brown, B. I. Freedman, G. S. Gilkeson, 

C. O. Jacob, J. A. James, R. P. Kimberly, J. Martin, 

J. T. Merrill, B. Pons-Estel, B. P. Tsao, T. J. Vyse, 

C. D. Langefeld, J. B. Harley, K. L. Moser, P. M. Gaffney, 

A. D. Skol, T. B. Niewold. 

2047T HLA DRB1 amino acid position 11 is highly 

associated with rheumatoid arthritis in African 

Americans. R. J. Reynolds, S. Raychaudhuri, P. I. W. de 

Bakker, X. Jia, M. I. Danila, A. F. Ahmed, L. W. Moreland, 

R. Brasington, L. F. Callahan, E. A. Smith, R. M. Plenge, 

S. L. Bridges, Jr., CLEAR Investigators. 

2048F GCKR polymorphism and insulin resistance in 

Americans of Mexican origin. Y. Lu, H. Q. Qu, Q. Li, 

S. P. Fisher-Hoch, J. B. McCormick. 

2049W Characterization of clinical characteristics and 

genetic burden of multiple sclerosis in Hispanics. 

I. Konidari, A. Hadjixenofontos, C. P. Manrique, 

A. H. Beecham, P. L. Whitehead, V. Bakthavachalam, 

P.-A. Gourraud, M. A. Pericak-Vance, L. Tornes, M. Ortega, 

K. W. Rammohan, S. Delgado, J. L. McCauley. 

2050T Investigating a role for functional variation in HIV-1 

control through exome sequencing. P. J. McLaren, 

P. Shea, I. Bartha, K. V. Shianna, D. B. Goldstein, J. Fellay. 

2051F The effect of genetic and interaction factors for 

risk prediction in type 2 diabetes. D. Shigemizu, T. Abe, 

T. Morizono, T. A. Johnson, K. A. Boroevich, M. Kubo, Y. 

Nakamura, S. Maeda, T. Tsunoda. 

2052W Genome-wide association study of structural 

foot disorders (lesser-toe deformity, hallux valgus 

and plantar soft-tissue atrophy) in older Caucasian 

populations. Y.-H. Hsu, C.-H. Cheng, Y. Liu, L. A. Cupples, 

J. Jordan, M. Hannan. 

2053T Multi-stage genome-wide association metaanalyses 

identified two new loci for bone mineral 

density. L. Zhang, J. Li, Y. F. Pei, Y. Lin, H. Shen, K. Estrada, 

F. Rivadeneira, A. G. Uitterlinden, C. S. Shin, H. J. Choi, 

E. L. Duncan, P. J. Leo, M. A. Brown, Y. Z. Liu, Y. J. Liu, 

J. G. Zhang, Q. Tian, Y. P. Wang, X. Z. Zhu, S. Y. Wu, 

C. J. Papasian, H. W. Deng. 

2054F Genetics of left- and right-hemisphere 

subcortical structures in the human brain. M. E. Renteria, 

A. Wallace, L. Strike, K. Johnson, D. P. Hibar, J. L. Stein, G. 

De Zubicaray, K. L. McMahon, G. W. Montgomery, 

P. M. Thompson, N. G. Martin, S. E. Medland, M. J. Wright. 

2055W Variant in the HLA-DPB1 region inversely 

associated with follicular lymphoma risk in metaanalysis 

of two genome-wide association studies. 

L. Conde, K. E. Smedby, J. N. Foo, J. Riby, K. Humphreys, 

F. C. M. Sillé, H. Darabi, S. Sanchez, H. Hjalgrim, J. Liu, 

P. M. Bracci, C. F. Skibola. 


2056T Genome-wide linkage and association analyses 

in uterine leiomyomata reveal FASN as a risk gene. 

S. L. Eggert, K. L. Huyck, P. Somasundaram, R. Kavalla, 

E. A. Stewart, A. T. Lu, J. N. Painter, G. W. Montgomery, 

S. E. Medland, S. A. Treloar, K. T. Zondervan, D. R. Nyholt, 

A. C. Heath, P. A. F. Madden, L. Rose, P. M. Ridker, 

D. I. Chasman, N. G. Martin, R. M. Cantor, C. C. Morton. 

2057F X chromosome markers associated with COPD: 

A meta-analysis in 3 cohorts. M. Hardin, M. McDonald, 

M. Matthiessen, M. Cho, E. Wan, P. Castaldi, D. Lomas, 

P. Bakke, A. Gulsvik, J. Crapo, T. Beaty, C. Lange, 

E. K. Silverman, D. DeMeo, COPDGene and ECLIPSE 

Investigators. 

2058W Periodontitis shares IL2RA as a genetic risk 

factor with rheumatoid arthritis, multiple sclerosis, 

type 1 diabetes, and Crohn’s disease. A. S. Schaefer, 

M. Nothnagel, C. Graetz, Y. Jockel, I. Harks, I. Staufenbiel, 

J. Eberhardt, E. Guzeldemir, N. Cine, E. Yilmaz, R. 

Nohutcu, B. Ehmke, P. Eickholz, M. Folwaczny, J. Meyle, 

U. Schlagenhauf, M. Laine, H. Dommisch, C. Bruckmann, 

B. Noack, B. Groessner-Schreiber, C. Doerfer, A. Franke, 

S. Jepsen, B. G. Loos, S. Schreiber. 

2059T Genetic factors underlying birth weight and 

cardiovascular disease: A study of 17,048 Finns. 

K. Auro, E. Widen, J. Eriksson, A. Palotie, T. Lehtimäki, 

O. Raitakari, M. Perola. 

2060F Genome-wide association study of orthostatic 

hypotension and supine-standing blood pressure 

changes in two Korean populations. K. Hong, Y. Kim. 

2061W Genetic association of erythrocyte and platelet 

phenotypes in Mexican Americans. P. E. Melton, 

J. E. Curran, M. Carless, M. P. Johnson, T. D. Dyer, 

J. W. MacCluer, E. K. Moses, H. H. H. Goring, 

R. Duggirala, D. Glahn, J. Blangero, L. Almasy. 

2062T GWAS in an isolated Sardinian population 

contribute to elucidate the genetic control of serum 

angiotensin converting enzyme level. I. Persico, 

M. P. Concas, G. B. Maestrale, L. Portas, F. Murgia, 

M. Cosso, D. Serra, M. Pirastu. 

2063F Flipping sign test of GWAS summary statistics 

on multiple correlated traits. Z. Zhang, N. Franceschini, 

T. Edwards, B. Keating, B. Tayo, E. Fox, A. Johnson, 

Y. Sun, Y. Sung, M. Nalls, J. Hunter, A. Dresbach, 

S. Musani, G. Papanicolaou, G. Lettre, A. Adebowale, 

R. Cooper, A. P. Reiner, D. Rao, D. Levy, X. Zhu. 

2064W Association study on the X chromosome 

identifies novel genes associated with systemic lupus 

erythematosus in Asian populations. W. Yang, Y. Zhang, 

N. Hirankarn, X. Zhang, Y. Lau. 

2065T Genetic modifiers of the palatal phenotype in 

22q11 microdeletion syndrome: Preliminary results of a 

genome-wide association study. C. Vial, G. M. Repetto, 

M. Palomares, S. McGhee, N. K. Henderson-MacLennan, 

M. L. Guzman, K. Espinoza, G. Lay-Son. 


2066F Genome-wide copy number variation in anorectal 

malformations. S. S. Cherny, E. H. M. Wong, L. Cui, 

C. L. Ng, C. S. M. Tang, M. T. So, B. H. K. Yip, G. Cheng, 

V. C. H. Liu, P. C. Sham, P. K. H. Tam, M.-M. Garcia-Barceló. 

2067W A genome-wide meta-analysis of copy number 

variation identifies novel childhood obesity loci. 

D. Hadley, J. Bradfield, H. Hakonarson, S. Grant on behalf 

of Early Growth Genetics Consortium. 

2068T Copy number variation analysis implicates locus 

5q21.2 with raised intra-ocular pressure. A. Nag, 

P. G. Hysi, C. Venturini, S. MacGregor, A. W. Hewitt, 

T. L. Young, P. Mitchell, A. C. Viswanathan, D. A. Mackey, 

C. J. Hammond, WTCCC2. 

2069F Genome- wide analysis of copy number variants 

in Down syndrome-associated congenital heart 

defects. D. Ramachandran, J. Mulle, A. E. Locke, 

P. Bose, L. J. Bean, S. Le, T. Rosser, K. Dooley, 

D. J. Cutler, E. Feingold, S. Y. Cheong, C. L. Cua, 

C. L. Maslen, R. H. Reeves, S. L. Sherman, M. E. Zwick. 

2070W Rare genetic variation in relation to circulating 

adiponectin. S. Gustafsson, L. Lind, A. Mahajan, 

S. Söderberg, A. Flyvbjerg, C. M. Lindgren, A. P. Morris, I. 

Ingelsson. 

2071T Comprehensive evaluation of type 2 diabetes 

susceptibility loci in East Asians by using 1000 

Genomes Project data. K. Hara, H. Fujita, T. A. Johnson, 

S. Maeda, T. Tsunoda, M. Kubo, T. Kadowaki. 

2072F Genome-wide association study of age-related 

macular degeneration identifies associated variants in 

the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. 

V. Cipriani, H.-T. Leung, V. Plagnol, C. Bunce, 

J. C. Khan, H. Shahid, A. T. Moore, S. P. Harding, 

P. N. Bishop, C. Hayward, S. Campbell, A. M. Armbrecht, 

B. Dhillon, I. J. Deary, H. Campbell, M. Dunlop, A. F. 

Dominiczak, S. S. Mann, S. A. Jenkins, A. R. Webster, A. C. 

Bird, M. Lathrop, D. Zelenika, A. J. Cree, J. Gibson, S. Ennis, 

A. J. Lotery, A. F. Wright, D. G. Clayton, J. R. W. Yates. 

2073W Evidence for association and biologic support 

of a novel locus for serum albumin. N. Franceschini, 

F. J. A. van Rooij, B. P. Prins, M. F. Feitosa, M. Karakas, 

Q. Wu, C. A. Winkler, J. Kopp, J. F. Felix, K. E. North, 

B. Z. Alizadeh, L. A. Cupples, J. R. B. Perry, A. P. Morris on 

behalf of CHARGE Consortium Protein Working Group. 

2074T Gene-based meta-analysis of genome-wide 

association studies implicates new susceptibility loci 

for obesity. S. Hägg, Y. Pawitan, E. Ingelsson on behalf of 

GIANT Consortium. 

2075F Homozygosity mapping in a Sindh Pakistan 

family identifies new candidate regions for primary 

autosomal recessive microcephaly. P. Lemay, M. Sindhi, 

N. Sehar, S. Kashif, Q. Brohi, J. Michaud, Z. Kibar. 


POSTER SESSIONS


2076W Large-scale rare-variant analyses of eight 

quantitative traits reveal novel loci for triglycerides and 

fasting insulin in genome-wide studies imputed from 

2188-haplotype 1000 Genomes reference panel. R. Mägi, 

M. Horikoshi, I. Surakka, S. Wiltshire, A.-P. Sarin, T. Esko, A. 

Mahajan, T. Ferreira, M. Beekman, S. Gustafsson, 

S. Hägg, C. Ladenvall, L. Marullo, C. P. Nelson, J. S. Ried, 

G. Thorleifsson, N. Tsernikova, S. M. Willems, C. Willenborg, 

T. Winkler, C. M. Lindgren, M. I. McCarthy, S. Ripatti, 

I. Prokopenko, A. P. Morris for ENGAGE Consortium. 

2077T Common genetic variants underlie 

endometriosis and fat distribution but not overall 

adiposity. N. Rahmioglu, S. Macgregor, H. R. Harris, 

A. Morris, S. A. Missmer, G. W. Montgomery, C. M. 

Lindgren, K. T. Zondervan, International EndoGene 

Consortium, GIANT Consortium. 

2078F Genome-wide association of single nucleotide 

polymorphisms with weight loss outcomes following 

Roux-en-Y gastric bypass surgery. E. Rinella, C. Still, 

Y. Shao, G. C. Wood, X. Chu, B. Salerno, G. S. Gerhard, 

H. Ostrer. 

2079W Identification of common and specific genetic 

determinants to skin prick test reactivity using 

genome-wide association study and gene-based test 

approaches. P.-E. Sugier, A. Vaysse, C. Loucoubar, 

C. Sarnowski, P. Margaritte-Jeannin, M.-H. Dizier, 

M. Lathrop, F. Demenais, E. Bouzigon, EGEA Collaborative 

Group. 

2080T A genome-wide meta-analysis of circulating 

levels of IGF-I and IGFBP-3. A. Teumer, R. S. Vasan, M. 

Bidlingmaier, T. Tanaka, N. L. Glazer, M. Nethander, 

T. Harris, M. Beekman, R. Westendorp, E. Slagboom, J 

. I. Rotter, P. P. Pramstaller, Q. Sun, C. Zhang, C. S. P. Lam, 

M. O. Goodarzi, K. Rice, B. M. Psaty, G. Li, J. B. Meigs, 

L. Kuller, M. N. Pollak, C. van Duijn, A. Tönjes, S. Berndt, 

E. Ziv, X. Xue, C. Ohlsson, H. Wallaschofski, R. C. Kaplan 

on behalf of CHARGE Insulin-Like Growth Factor Working 

Group. 

2081F Phenotypic refinement and genome-wide 

association analysis identifies a functional variant in 

ADCY3 associated with BMI. N. J. Timpson, R. Gaillard, 

E. Stergiakouli, H. R. Taal, D. M. Evans, F. Rivadeneira, 

B. St. Pourcain, A. G. Uitterlinden, J. Kemp, A. Hofman, 

S. Ring, V. W. V. Jaddoe, G. Davey Smith. 

2082W A genome-wide association study of kidney 

transplant survival: Donors recipients and interactions. 

C. Franklin, M. Hernandez Fuentes, J. Mollon, I. Rebollo 

Mesa, E. Perucha, P. Conlon, N. Anyanwu, S. H. Sacks, 

M. E. Weale, N. Soranzo, G. Lord, United Kingdom and 

Ireland Renal Transplant Consortium, the Wellcome Trust 

Case-Control Consortium 3. 

2083T Admixture mapping of vitamin D in African 

Americans. I. Halder, L. Pearson, .S. Mulukutla, 

M. Shriver, V. Causer, G. Huggins, S. Reis. 

2084F A genome-wide association study establishes 

multiple susceptibility loci for Sjögren’s syndrome. 

C. J. Lessard, H. Li, I. Adrianto, J. A. Ice, R. Jonsson, 

G. G. Illei, M. Rischmueller, G. Nordmark, X. Mariette, 

C. Miceli-Richard, M. Wahren-Herlenius, T. Witte, M. 

Brennan, R. Omdal, P. M. Gaffney, J. A. Lessard, W.-F. Ng, 

N. Rhodus, B. Segal, R. H. Scofield, J. A. James, J.-M. 

Anaya, J. B. Harley, C. G. Montgomery, K. Moser Sivils. 

2085W Pooling-based genome-wide association study 

for intracranial aneurysms in the Portuguese population. 

P.C. S. Abrantes, I. Sousa, M. M. Santos, V. Francisco, 

T. Krug, J. M. Xavier, A. Jacinto, D. Coiteiro, S. A. Oliveira. 

2086T Genetic variants at the IGHC locus are associated 

with IgG levels in multiple sclerosis patients. E. Albrecht, 

D. Buck, M. Aslam, A. Goris, N. Hauenstein, A. Jochim, 

S. Cepok, V. Grummel, B. Dubois, A. Berthele, P. Lichtner, 

C. Gieger, J. Winkelmann, B. Hemmer. 

2087F A web-based initiative to accelerate research on 

genetics and disease in African Americans. K. E. Barnholt, 

A. K. Kiefer, H. L. Gates, Jr., M. Nelson, M. Mullins, E. Baker, 

J. Frank, C. D. Bustamante, T. W. Love, R. A. Kittles, 

N. Eriksson, J. L. Mountain. 

2088W First systematic association study of achalasia 

points to a strong involvement of the HLA region in the 

disease process. J. Becker, M. Knapp, M. M. Wouters, 

G. Trynka, V. Kumar, L. Franke, H.-J. Westra, C. Wijmenga, 

G. E. Boeckxstaens, M. M. Nöthen, I. Gockel, J. Schumacher. 

2089T Genetic variants associated with breast size also 

influence breast cancer risk. G. Benton, N. Eriksson, 

C. B. Do, A. K. Kiefer, J. L. Mountain, D. A. Hinds, 

U. Francke, J. Y. Tung. 

2090F Meta-analysis of genetic associations in up 

to 339,224 individuals identify 67 new loci for BMI, 

confirming a neuronal contribution to body weight 

regulation and implicating several novel pathways. 

S. I. Berndt, S. Vedantam, F. Day, S. Gustafsson, 

A. E. Locke, C. Powell, B. Kahali, D. C. Croteau-Chonka, T. 

W. Winkler, A. Scherag, I. Barroso, J. S. Beckmann, 

A. Justice, C. M. Lindgren, T. Pers, P. Visscher, J. Yang, 

M. Boehnke, G. Abecasis, C. J. Willer, K. L. Mohlke, 

K. E. North, J. N. Hirschhorn, E. Ingelsson, R. J. F. Loos, 

E. K. Speliotes for GIANT Consortium. 

2091W Selective immunoglobulin A deficiency is 

associated with IFIH1, TNFAIP3, PVT1, FAS, CDH23 and 

TM7SF3 in a genome-wide association study and metaanalysis. 

P. G. Bronson, A. P. Manoharan, T. R. Bhangale, 

W. Ortmann, R. C. Ferreira, Q. Pan-Hammarström, 

L. Hammarström, R. R. Graham, T. W. Behrens. 

2092T Three new susceptibility loci for hyperuricemia 

identified through a genome-wide association analysis 

in Han Chinese. C.-H. Chen, Y.-T. Chen, Y.-T. Chen, 

J.-Y. Wu. 

2093F Candidate genetic loci for telomere length: 

A family based association study of Long Life Family 

Study. R. Cheng, J. H. Lee, M. S. Kang, M. A. Province, 

R. Mayeux, L. S. Honig. 


2094W Common variations at chromosome 21q22 

influences the risk of age-related nuclear cataract: The 

Singapore Malay Eye Study. C. Y. Cheng, J. Liao, X. Li, 

C. C. Khor, W. T. Tay, A. G. Tan, J. J. Wang, P. Mitchell, 

Y. Y. Teo, E. S. Tai, S. M. Saw, T. Aung, T. Y. Wong. 

2095T A genome-wide association study on 

progressive and bout-onset multiple sclerosis patients. 

F. Clarelli, P. Brambilla, F. Esposito, G. Giacalone, 

M. Rodegher, M. Sorosina, C. Guaschino, N. Barizzone, 

P. Cavalla, E. Patti, D. Galimberti, E. Scarpini, S. Lupoli, 

R. Capra, G. Tedeschi, G. Mancardi, G. Coniglio, 

L. Grimaldi, A. Ghezzi, D. Cusi, V. Martinelli, M. Leone, 

S. D’Alfonso, G. C. Comi, F. Martinelli Boneschi. 

2096F Novel loci for caffeinated coffee consumption 

revealed by a genome-wide meta-analysis of 91,000 

individuals. M. Cornelis on behalf of Coffee & Caffeine 


2097W Genome-wide association study of Tanner 

puberty staging in males and females. D. Cousminer, 

N. Timpson, D. Berry, W. Ang, I. Ntalla, M. Groen-Blokhuis, 

M. Guxens, M. Kähönen, J. Viikari, T. Lehtimäki, K. 

Panoutsopoulou, D. Boomsma, E. Zeggini, G. Dedoussis, 

C. Pennell, O. Raitakari, E. Hyppönen, G. Davey Smith, M. 

McCarthy, E. Widén, Early Growth Genetics Consortium. 

2098T Genetic variation associated with circulating 

monocyte count in the eMERGE Network. D. Crosslin, 

A. McDavid, N. Weston, X. Zheng, E. Hart, M. de Andrade, 

I. Kullo, C. McCarty, K. Doheny, E. Pugh, A. Kho, 

M. Hayes, M. Ritchie, A. Saip, D. Crawford, P. Crane, 

K. Newton, R. Li, D. Mirel, A. Crenshaw, E. Larson, 

C. Carlson, G. Jarvik. 

2099F A genome-wide association study of systemic 

lupus erythematosus in North Americans of European 

ancestry. F. Y. Demirci, X. Wang, A. H. Kao, A. Clarke, R. 

Ramsey-Goldman, S. Manzi, M. M. Barmada, 

M. I. Kamboh. 

2100W Genome-wide association study of sexual 

orientation in a large, web-based cohort. E. M. Drabant, 

A. K. Kiefer, N. Eriksson, J. L. Mountain, U. Francke, 

J. Y. Tung, D. A. Hinds, C. B. Do. 

2101T Identification of multiple novel susceptibility 

regions for primary sclerosing cholangitis through dense 

genotyping of autoimmunity risk loci. E. Ellinghaus, 

J. Z. Liu, T. Folseraas, A. Franke, C. A. Anderson, T. H. 

Karlsen on behalf of International Primary Sclerosing 

Cholangitis Study Group and Immunochip Consortium. 

2102F Screening of inflammation-related SNPs 

identifies a functional IL6 receptor variant as a risk 

factor for atopic dermatitis. J. Esparza Gordillo, 

H. Schaarschmidt, L. Liang, W. O. C. M. Cookson, 

M. L. Lee-Kirsch, J. Henderson, L. Paternoster, J. I. 

Harper, E. Mangold, M. M. Nothen, F. Rüschendorf, 

T. Kerscher, I. Marenholz, A. Matanovic, S. Lau, T. Keil, 

C. P. Bauer, M. Kurek, A. Ciechanowicz, M. Macek, A. 

Franke, M. Kabesch, N. Hubner, G. Abecasis, 

S. Weidinger, M. F. Moffatt, Y. A. Lee. 


2103W A novel sarcoidosis risk locus for Europeans on 

chromosome 11q13.1. A. Fischer, B. Schmid, 

D. Ellinghaus, M. Nothnagel, K. I. Gaede, M. Schürmann, 

S. Lipinski, P. Rosenstiel, G. Zissel, K. Höhne, M. Petrek, 

V. Kolek, S. Pabst, C. Grohé, J. Grunewald, M. Ronninger, 

A. Ecklund, L. Padyukov, C. Gieger, H.-E. Wichmann, 

A. Nebel, A. Franke, J. Müller-Quernheim, S. Hofmann, 

S. Schreiber. 

2104T A GWAS on age-related hearing impairment in a 

European population. E. Fransen, S. Bonneux, 

I. Schrauwen, F. Di Berardini, I. Dhooge, J. J. Corneveaux, 

J. D. Ohmen, P. H. Van de Heyning, R. Friedman, 

M. J. Huentelman, G. Van Camp. 

2105F An extensive literature-based multilocus genetic 

score is associated with all-cause-mortality and major 

diseases: The Rotterdam and TwinGene studies. 

A. Ganna, A. C. Janssens, A. Hofman, F. Rivadeneira, 

A. G. Uitterlinden, P. K. E. Magnusson, N. L. Pedersen, 

E. Ingelsson, H. Tiemeier. 

2106W Large-scale meta-analysis in up to 40,429 

Europeans identifies genetic loci associated with 

non-fasting plasma glucose and reveals links to 

glucose uptake in muscle. K. S. Gutierrez, V. Lagou, 

A. Isaacs, J. B. Meigs, Y. S. Aulchenko, I. Prokopenko for 

MAGIC (Meta-Analyses of Glucose and Insulin-Related 

Traits Consortium) Investigators. 

2107T Genome-wide association study detects multiple 

novel loci associated with nuclear magnetic resonance 

spectroscopy detected metabolites in human serum. 

P. Henneman, A. Verhoeven, H. Dharuri, J. van Klinken, 

A. Meissner, S. Göraler, A. Deelder, R. Frants, L. Karssen, 

B. Oostra, K. Willems van Dijk, C. van Duijn. 

2108F Ontology, visual, and informatics enhancements 

to the NHGRI genome-wide association study catalog. 

L. A. Hindorff, J. A. L. MacArthur, D. Welter, T. Burdett, 

P. Hall, H. A. Junkins, H. Parkinson. 

2109W Genome-wide association study of time-to 

diabetic retinopathy . S. M. Hosseini, A. P. Boright, L. 

Sun, K. Howard, A. J. Canty, S. B. Bull, B. E. Klein, R. 

Klein, A. D. Paterson, DCCT/EDIC Research Group. 

2110T Genome-wide screen for telomere length loci 

identifies a cancer risk associated gene in Finnish 

cohorts. I. Hovatta, I. Surakka, I. Sirén, J. Kettunen, J. G. 

Eriksson, P. Knekt, V. Salomaa, J. Kaprio, S. Ripatti. 

2111F GWAS identifies 13 polymorphisms associated 

with motion sickness. B. S. Hromatka, E. R. Chang, J. Y. 

Tung, J. L. Mountain, U. Francke, C. B. Do, N. Eriksson. 

2112W Identification of leprosy host genetic 

susceptibility loci. A. Irwanto, L. Hong, F. Zhang, J. Liu. 

2113T Genetic risk score in multiple sclerosis: Back 

to the individual in the post-GWAS era. N. Isobe, P. 

KhanKhanian, B. Vinod, S. Cailler, H. Harbo, A. Santaniello, 

S. Hauser, J. Oksenberg, P. Gourraud. 


POSTER SESSIONS


2114F A genome-wide association study of HIV-1 

infection in African American and European American 

injection drug users. E. Johnson, D. Hancock, J. Levy, 

G. Page, S. Novak, C. Glasheen, N. Gaddis, N. Saccone, 

J. Rice, Q. Wang, M. Moreau, K. Doheny, J. Romm, A. 

Brook, L. Bierut, A. Kral. 

2115W Genetics of myopia in a participant driven, webbased 

cohort. A. K. Kiefer, J. Y. Tung, C. B. Do, 

D. A. Hinds, J. L. Mountain, U. Francke, N. Eriksson. 

2116T A meta-analysis of 52,439 individuals identifies 

four loci associated with leptin levels independent of 

adiposity. T. O. Kilpeläinen, Q. Sun, Z. Kutalik, 

K. Kristiansson, M. Mangino, M. Su, P. P. Framstaller, 

D. Pasko, T. Tanaka, Y. J. Sung, P. Henneman, A. Mahajan, 

M. Beekman, M. E. Kleber, T. I. A. Sørensen, L. J. 

Rasmussen-Torvik, O. T. Raitakari, L. Perusse, C. Ohlsson, 

M. Walker, S. M. Willems, R. H. Myers, J. Eriksson, 

V. Salomaa, H. Grallert, T. B. Harris, O. Pedersen, R. J. 

Loos for LEPGen Consortium. 

2117F Pathway-based analysis of genome-wide 

association studies for the personality traits. H. Kim, 

S. Roh, C. Hong, E. Lee, Y. Sung, H. Lee, H. Chung, 

J. Lee, H. Kim. 

2118W A genome-wide association study identifies 

a novel susceptible locus for refractive error at 

19q13.12 in Korea. W. R. Kim, T. Y. Chung, Y. M. Song, 

K. Lee, J. Sung. 

2119T A genome-wide association study on hallux 

valgus angle identifies candidate loci: The Healthy Twin 

Study Korea. S.-J. Lee, D. Lee, J.-H. Hwang, Y.-M. Song, 

K. Lee, J. Sung. 

2120F Sciatica in young adult population: A genomewide 

association study in the young Finns. S. Lemmelä, 

S. Solovieva, R. Shiri, T. Lehtimäki, I. Seppälä, 

M. Kähönen, M. Juonala, J. Viikari, O. Raitakari, E. Viikari- 

Juntura, K. Husgafvel-Pursiainen. 

2121W GWAS of blood cell traits identifies novel 

associated loci and epistatic interactions in Caucasian 

and African American children. J. Li, J. T. Glessner, H. 

Zhang, C. Hou, Z. Wei, J. Bradfield, F. D. Mentch, Y. Guo, 

C. Kim, Q. Xia, R. M. Chiavacci, K. A. Thomas, H. Qiu, S. 

Grant, S. L. Furth, H. Hakonarson, P. M. A. Sleiman. 

2122T A genome-wide analysis of longitudinal forced 

expiratory volume in one second in the Framingham 

Heart Study. S.-Y. Liao, X. Lin, D. C. Christiani. 

2123F Hundreds of loci contribute to body fat 

distribution and central adiposity. A. E. Locke, D. 

Shungin, T. Ferreira, T. W. Winkler, D. C. Croteau-Chonka, 

R. Magi, T. Workalemahu, K. Fischer, J. Wu, R. J. 

Strawbridge, A. Justice, F. Day, N. Heard-Costa, C. S. Fox, 

M. C. Zillikens, E. K. Speliotes, H. Völzke, L. Qi, I. Barroso, 

I. M. Heid, K. E. North, P. W. Franks, M. I. McCarthy, J. 

N. Hirschhorn, L. A. Cupples, E. Ingelsson, A. P. Morris, 

R. J. F. Loos, C. M. Lindgren, K. L. Mohlke, Genetic 

Investigation of ANthropometric Traits Consortium. 

2124W Significant evidence for association in genomewide 

analyses of lipid levels in Pima Indians. A. 

Malhotra, S. Kobes, W. C. Knowler, L. J. Baier, 

R. L. Hanson. 

2125T Investigation of lipid pathway genes in late 

onset Alzheimer’s disease. L. L. McClain, X. Wang, 

M. M. Barmada, F. Y. Demirci, O. L. Lopez, M. I. Kamboh. 

2126F Genome-wide association study identifies 

genetic loci associated with iron overload in HFE 

hemochromatosis. J. Mosser, R. Bouvet, J. Morcet, 

M. Perrin, A. M. Jouanolle, M. P. Roth, E. Génin, Y. 

Deugnier, M. de Tayrac. 

2127W Not a stretch: Variant near the dermal gene 

elastin is associated with stretch marks. M. E. Mullins, 

N. Eriksson, A. K. Kiefer, J. Y. Tung. 

2128T Identification of three new genes associated to 

serum butyrylcholinesterase activity by GWAS in two 

genetically distant isolated populations. F. Murgia, 

L. Portas, S. Ulivi, N. Pirastu, S. Vaccargiu, D. Parracciani, 

P. Gasparini, M. Pirastu. 

2129F Common genetic variants of primary open-angle 

glaucoma in Japanese population. M. Nakano, Y. Ikeda, 

Y. Tokuda, M. Fuwa, R. Sato, N. Omi, H. Adachi, M. Ueno, 

K. Mori, S. Kinoshita, K. Tashiro. 

2130W The associations of HLA-DP locus with chronic 

hepatitis B and viral clearance are widely replicated in 

East-Asian populations. N. Nishida, Y. Tanaka, H. Sawai, 

Y. Mawatari, M. Yamaoka, A. Koike, K. Matsuura, M. 

Sugiyama, K. Murata, M. Korenaga, N. Masaki, K.-H. Han, 

K. Tokunaga, M. Mizokami. 

2131T Three novel loci identified with BMI in a 

genome-wide association study of 47,098 men and 

women of African ancestry. K. E. North, K. L. Monda, 

G. K. Chen, K. T. Taylor, L. A. Lange, C. Palmer, R. J. Loos, 

A. P. Reiner, D. R. Velez Edwards, M. C. Ng, T. L. Edwards, 

C. Kooperbeerg, B. E. Henderson, G. J. Papanicolaou, 

J. N. Hirschhorn, C. Haiman, African American BMI 

Consortium. 

2132F Genetic determinants of IL-1 receptor 

antagonist in the circulation. M.-L. Nuotio, K. 

Kristiansson, M. Perola, V. Salomaa. 

2133W Multi-ethnic GWA meta-analysis identifies new 

endometriosis risk loci. D. R. Nyholt, S.-K. Low, C. A. 

Anderson, J. P. Painter, S. Uno, A. P. Morris, S. MacGregor, 

S. D. Gordon, A. K. Henders, N. G. Martin, J. Attia, E. G. 

Holliday, M. McEvoy, R. J. Scott, S. H. Kennedy, S. A. 

Treloar, S. A. Missmer, S. Adachi, K. Tanaka, Y. Nakamura, 

K. T. Zondervan, H. Zembutsu, G. W. Montgomery. 

2134T Genome-wide association study reveals new 

candidate loci for hand osteoarthritis. A. Näkki, J. 

Eriksson, E. Widen, A. Palotie, U. M. Kujala, J. Saarela. 


2135F Genome-wide association study and metaanalysis 

of intraocular pressure in primary open-angle 

glaucoma cases and controls in the NEIGHBOR, 

GLAUGEN and AMD-MMAP MI Consortia. A. B. Ozel, 

S. Moroi, D. Reed, E. Trager, K. Scott, J. Gilbert, S. Garnai, 

S. Akbari, M. Nika, C. Schmidt, B. Yaspan, K. Branham, 

W. Chen, J. Heckenlively, A. Swaroop, G. Abecasis, 

A. Ashley-Koch, M. Ulmer, M. Hauser, J. Haines, L. R. 

Pasquale, J. Wiggs, J. Richards, J. Z. Li, NEIGHBOR 

Consortium. 

2136W Haplotype association mapping in 33 inbred 

mouse strains identifies genetic regions contributing 

to chronic hypoxia-induced pulmonary hypertension. 

M. W. Pauciulo, D. Koller, P. Hale, T. D. Le Cras, P. Pastura, 

B. Aronow, C. Tolentino, D. Li, T. Foroud, W. C. Nichols. 

2137T Large-scale genome-wide association metaanalysis 

of fasting glycemic traits using imputation 

from 2188-haplotype 1000 Genomes reference panel 

within ENGAGE consortium. I. Prokopenko, R. Mägi, 

M. Horikoshi, I. Surakka, S. Wiltshire, A.-P. Sarin, 

A. Mahajan, L. Marullo, T. Ferreira, S. Hägg, J. S. Ried, 

G. Thorleifsson, T. Esko, S. M. Willems, A. P. Morris, M. I. 

McCarthy, S. Ripatti, European Network for Genetic and 

Genomic Epidemiology Consortium. 

2138F BRC allergene study: A TwinsUK GWAS of a 

metabolite associated with allergic response to nickel. 

L. Quaye, L. Bevan, T. Tsakok, C. Menni, A. Moayyeri, 

I. Erte, T. D. Spector, C. J. Hammond, F. O. Nestle. 

2139W Experience with Illumina Infinium FFPE DNA 

restoration solution. J. Romm, S. Pottinger, L. Aker, 

C. Hilton, C. Ongaco, K. Doheny. 



Aging: A genome-wide association analysis of type 

2 diabetes. L. C. Sakoda, L. Shen, S. Sciortino, D. K. 

Ranatunga, R. W. Grant, T. J. Hoffmann, M. N. Kvale, 

S. Hesselson, Y. Banda, P. Kwok, N. Risch, C. Schaefer, 

A. Ferrara. 

2141F A genome-wide association study of Helicobacter 

pylori infection susceptibility. C. Schurmann, J. Mayerle, 

L. Stolk, M. J. Peters, G. Homuth, A. G. Uitterlinden, M. M. 

Lerch, E. Kuipers. 

2142W GWAS needs a good phenotype: Clustering 

tooth surfaces into biologically-informative dental 

caries outcomes. J. R. Shaffer, E. Feingold, X. Wang, 

M. Lee, K. T. Cuenco, D. E. Weeks, R. J. Weyant, R. Crout, 

D. W. McNeil, M. L. Marazita. 

2143T X chromosome SNPs not strongly associated 

with juvenile idiopathic arthritis. M. Sudman, M. Marion, 

T. Howard, J. Haas, S. Prahalad, J. Bohnsack, C. Wise, 

M. Punaro, C. Rose, M. Ryan, M. Wagner, C. D. Langefeld, 

D. Glass, S. Thompson. 

2144F In quest of aging- and longevity-associated 

genetic markers. R. Tamm, M. Alver, K. Fischer, R. Magi, 

A. Metspalu. 


2145W Genome-wide association scan of osteoporotic 

fracture: A meta-analysis of 10,012 African American 

women. K. C. Taylor, D. Edwards, T. Edwards, D. S. 

Evans, G. Li, K. E. North, N. Franceschini, R. Jackson, 

M. Donneyong, A. Z. LaCroix, J. A. Robbins, B. Lewis, 

M. L. Stefanick, Y. Liu, M. Garcia, T. B. Harris, J. A. Cauley. 

2146T Genome-wide association analysis of percent 

body fat in adults from the Fels Longitudinal Study. 

B. Towne, J. Blangero, A. C. Choh, J. E. Curran, C. Bellis, 

T. D. Dyer, E. W. Demerath, M. Lee, R. M. Siervogel, 

S. A. Czerwinski. 

2147F Genome-wide association meta-analyses in 

over 210,000 individuals identify 20 sexually dimorphic 

genetic variants for body fat distribution. T. W. Winkler, 

D. C. Croteau-Chonka, T. Ferreira, K. Fischer, A. E. Locke, 

R. Mägi, D. Shungin, T. Workalemahu, J. Wu, F. Day, 

A. U. Jackson, A. Justice, R. Strawbridge, H. Völzke, 

L. Qi, M. C. Zillikens, C. S. Fox, E. K. Speliotes, I. Barroso, 

E. Ingelsson, J. N. Hirschhorn, M. I. McCarthy, P. W. 

Franks, A. P. Morris, L. A. Cupples, K. E. North, K. L. 

Mohlke, R. J. F. Loos, I. M. Heid, C. M. Lindgren, GIANT 

Consortium. 

2148W 1000 Genomes imputation identifies low 

frequency-large effect circulating biomarker associations 

undetected by HapMap-based imputation. A. R. Wood, 

J. Tyrrell, D. G. Hernandez, M. A. Nalls, H. Yaghootkar, J. R. 

Gibbs, L. W. Harries, S. Chong, M. Moore, J. M. Guralnik, 

S. Bandinelli, A. Murray, L. Ferrucci, A. B. Singleton, 

D. Melzer, M. N. Weedon, T. M. Frayling. 

2149T So fresh or so clean? A genetic variant near 

olfactory receptor genes associates with cilantro taste 

preference. S. Wu, J. Y. Tung, A. B. Chowdry, A. K. Kiefer, 

J. L. Mountain, N. Eriksson. 

2150F Genome-wide association study for 

Behçets disease in an Iranian dataset 

using a DNA pooling approach. J. Xavier, M. Martins, 

J. Sobral, F. Shahram, F. Davatchi, B. S. Abdollahi, 

A. Nadji, N. M. Shafiee, F. Ghaderibarim, S. A. Oliveira. 

2151W A genome-wide association study identifies 

susceptibility loci for non-syndromic sagittal 

craniosynostosis on chromosomes 20 and 7. G. Yagnik, 

C. M. Justice, Y. Kim, I. Peter, E. W. Jabs, X. Ye, L. Shi, 

M. L. Cunningham, V. Kimonis, T. Roscioli, S. A. Wall, 

A. O. M. Wilkie, J. Stoler, J. T. Richtsmeier, Y. Heuzé, P. A. 

Sanchez-Lara, M. F. Buckley, C. M. Druschel, J. L. Mills, 

M. Caggana, P. A. Romitti, D. M. Kay, C. Senders, P. J. 

Taub, O. D. Klein, J. Boggan, C. Naydenov, J. Kim, A. F. 

Wilson, S. A. Boyadjiev. 

2152T Finding genome-transcriptome-phenome 

association with structured association mapping and 

visualization in GenAMap. J. Yin, R. E. Curtis, E. P. Xing. 

2153F A genome-wide association study of central 

corneal thickness in Latinos. X. Gao, W. J. Gauderman, 

P. Marjoram, M. Torres, T. Haritunians, J. Z. Kuo, Y. I. 

Chen, K. D. Taylor, J. I. Rotter, R. Varma. 


POSTER SESSIONS


2154W CDKN2BAS genotype: Primary open angle 

glaucoma feature correlations in the GLAUGEN study 

and the NEIGHBOR consortium. L. R. Pasquale, S. J. 

Loomis, J. H. Kang, B. L. Yaspan, D. L. Budenz, D. S. 

Friedman, D. Gaasterland, T. Gaasterland, R. K. Lee, 

P. R. Lichter, Y. Liu, C. A. McCarty, S. Moroi, L. M. Olson, 

T. Realini, J. S. Schuman, K. Singh, D. Vollrath, 

G. Wollstein, D. J. Zack, W. Abdrabou, M. A. Hauser, E. 

Delbono, R. R. Allingham, M. A. Pericak-Vance, 

R. N. Weinreb, K. Zhang, J. E. Richards, J. L. Haines, 

J. L. Wiggs. 

2155T Ethnicity and ancestry information from 

genome-wide association studies: The NHGRI GWAS 

catalog. H. A. Junkins, J. A. L. MacArthur, P. Hall, 

K. A. Harvey, T. A. Manolio, L. A. Hindorff. 

2156F OFCD syndrome gene BCOR is associated with 

dental caries. X. Wang, Z. Zeng, J. R. Shaffer, E. Feingold, 

D. E. Weeks, M. Lee, K. T. Cuenco, R. J. Weyant, R. Crout, 

D. W. McNeil, M. L. Marazita. 

2157W Sickle-cell locus is a major modifier of human 

susceptibility to invasive bacterial infection: A genomewide 

association study of bacteremia susceptibility. 

A. Rautanen, M. Pirinen, C. Spencer, T. Mills, S. Chapman, 

K. Rockett, J. A. Scott, T. N. Williams, P. Donnelly, A. V. Hill. 

2158T Using genomics to decipher causation in severe 

edematous childhood malnutrition: A pilot GWAS. N. A. 

Hanchard, S. Howell, K. Marshall, T. Forrester, M. Reid, 

X. Wang, L. M. Franco, J. W. Belmont, C. A. McKenzie. 

2159F Genome-wide association study of body mass 

index in Samoans. R. L. Minster, G. Sun, S. R. Indugula, 

H. Cheng, N. L. Hawley, S. Viali, R. Deka, D. E. Weeks, 

S. T. McGarvey. 

2160W Variants in RUNX3 contribute to susceptibility 

to psoriatic arthritis exhibiting further common ground 

with ankylosing spondylitis. A. Reis, M. Apel, S. Uebe, 

J. Bowes, E. Giardina, E. Korendowych, K. Juneblad, F. 

Pasutto, A. B. Ekici, R. McManus, P. Ho, I. N. Bruce, A. 

W. Ryan, F. Behrens, B. Böhm, H. Traupe, J. Lohmann, C. 

Gieger, H. E. Wichmann, L. Padyukov, O. FitzGerald, G. M. 

Alenius, N. McHugh, G. Novelli, H. Burkhardt, A. Barton, 

U. Hüffmeier. 

2161T Association analysis between X-chromosome 

variants and asthma in 50,000 individuals. C. S. Tang, 

D. Hinds, M. A. R. Ferreira. 

2162F Early adiposity phenotypes associate with 

common variants at LEPR, FTO, TFAP2B and 

GNPDA2. M.-R. Jarvelin, S. Das, H. R. Taal, U. Sovio, 

D. Mook-Kanamori, N. M. Warrington, N. J. Timpson, 

D. L. Cousminer, E. Thiering, I. Y. Millwood, J. L. Buxton, 

S. Sebert, M. Kaakinen, A. I. F. Blakemore, J. Eriksson, 

P. Froguel, M. McCarthy, L. Coin, P. O’Reilly, V. W. V. 

Jaddoe, Early Growth Genetics Consortium. 

2163W Multiple human genetic variants associated 

with Epstein-Barr virus load in the 1000 Genomes and 

HapMap lymphoblastoid cell lines. C. Houldcroft, A. Gall, 

J. Z. Liu, A. L. Palser, S. J. Watson, C. A. Anderson, P. Kellam. 

2164T Genome-wide association study on expressive 

language development in children from the general 

population links early word production to common 

variation at 3p12.3. B. St Pourcain, R. Cents, W. Ang, 

P. F. O’Reilly, F. Velders, N. Warrington, C. M. A. Haworth, 

O. S. P. Davis, A. Whitehouse, N. Timpson, J. Kemp, D. M. 

Evans, M. Marinelli, Y. Wren, S. Roulstone, R. Plomin, 

V. Jaddoe, M.-R. Jarvelin, C. Pennell, H. Tiemeier, 

G. Davey Smith, EAGLE. 

2165F A genome-wide association study of early 

menopause and the predictive impact of identified 

variants on risk. J. R. B. Perry, T. Corre, T. Esko, 

S. Chanock, D. Chasman, E. Demerath, M. Garcia, 

S. Hankinson, F. Hu, D. Hunter, K. Lunetta, A. Metspalu, 

G. Montgomery, J. Murabito, A. Newman, K. Ong, 

T. Spector, K. Stefansson, A. Swerdlow, U. Thorsteinsdottir, 

R. Van Dam, A. G. Uitterlinden, J. Visser, P. Vollenweider, 

D. Toniolo, A. Murray on behalf of Reprogen Consortium. 

2166W Genome-wide association study of nocturnal 

awakening in asthma. D. Chhabra, A. Dahlin, Q. Duan, 

B. Himes, S. T. Weiss, K. G. Tantisira. 

2167T Preliminary meta-analysis of genome-wide 

association studies of lung function in children. 

M. Kowgier, M. Bustamante, J. Sunyer, J. Heinrich, 

C. Flexeder, G. Koppelman, M. Kerkhof, E. S. Schultz, 

E. Melen, S. Birch, R. Granell, E. Kreiner-Møller, 

H. Bisgaard, J. Henderson, L. J. Palmer. 

2168F A genome-wide meta-analysis identifies 

common variants in LOC201229 and NOS2A associated 

with fractional exhaled nitric oxide in childhood. R. J. P. 

van der Valk, L. Duijts, M. T. Salam, 

J. Sunyer, E. Melen, G. Koppelman, A. Custovic, 

J. Heinrich, H. Bisgaard, A. J. Henderson, V. W. V. Jaddoe, 

J. C. de Jongste on behalf of GABRIEL and EArly Genetics 

and Lifecourse Epidemiology Consortia. 

2169W Phenotypic dissection of bone mineral 

density facilitates the identification of skeletal site 

specificity on the genetic regulation of bone. J. P. 

Kemp, C. Medina-Gomez, K. Estrada, D. H. M. Heppe, 

M. C. Zillikens, N. J. Timpson, B. St. Pourcain, S. M. 

Ring, A. Hofman, V. W. V. Jaddoe, G. Davey Smith, A. G. 

Uitterlinden, J. H. Tobias, F. Rivadeneira, D. M. Evans. 

2170T A multiethnic genome-wide association study 

of HIV-1 viral load among injection drug users. D. B. 

Hancock, J. L. Levy, G. P. Page, S. P. Novak, C. Glasheen, 

N. C. Gaddis, N. L. Saccone, J. P. Rice, Q. Wang, 

M. Moreau, K. Doheny, J. Romm, A. I. Brooks, L. J. Bierut, 

A. H. Kral, E. O. Johnson. 

2171F Genetic variants near the NTRK2 gene are 

associated with weight at birth in twins. S. J. Metrustry, 

T. Spector, A. M. Valdes. 

2172W A systematic meta-analysis of associations of 

genetic variants influencing protein phosphorylation 

with bone mineral density phenotypes. T. Niu, L. Zhang, 

F.-Y. Deng, J. Li, Y.-F. Pei, Y. Liu, H. Shen, Y.-Z. Liu, 

H.-W. Deng. 


2173T Chromosome X revisited: Variants in Xq21.1 

associate with adult stature in a meta-analysis of 14,700 

Finns. T. Tukiainen, J. Kettunen, A.-P. Sarin, J. G. Eriksson, 

A. Jula, V. Salomaa, O. T. Raitakari, 

M.-R. Järvelin, S. Ripatti. 

2174F A genome-wide association study identifies two 

susceptibility loci for Crohn’s disease in a Japanese 

population. K. Yamazaki, J. Umeno, A. Takahashi, 

A. Hirano, T. Johnson, N. Kumasaka, T. Morizono, 

N. Hosono, T. Kawaguchi, M. Takazoe, T. Yamada, 

Y. Suzuki, H. Tanaka, S. Motoya, M. Hosokawa, Y. Arimura, 

Y. Shinomura, T. Matsui, T. Matsumoto, M. Iida, T. Tsunoda, 

Y. Nakamura, N. Kamatani, M. Kubo. 

2175W Large scale GWAS-meta analysis identifies 

novel variants associated with mean leukocyte 

telomere length. V. Codd, C. P. Nelson, E. Albrecht, 

P. van der Harst, M. Mangino, J. Deelen, J. L. Buxton, J. J. 

Hottenga, K. Fischer, I. Surakka, L. Broer, D. R. Nyholt, P. 

Salo, S. Hagg, P. J. Talmud, N. L. Pedersen, M. Perola, J. 

Kaprio, N. G. Martin, C. M. van Duijn, I. Hovatta, C. Gieger, 

A. Metspalu, D. I. Boomsma, M. R. Jarvelin, W. H. van 

Gilst, P. E. Slagboom, T. D. Spector, N. J. Samani, 

ENGAGE Consortium. 

2176T Suggestive loci for osteoporosis: A variance 

components linkage analysis of extended pedigrees. 

S. C. Nguyen, N. D. Nguyen, J. C. Center, J. A. Eisman, 

T. V. Nguyen. 

2177F Linkage analysis for identification of rare, highpenetrance 

celiac disease risk variants in the Finnish 

and Hungarian populations. E. Einarsdottir, K. Kurppa, 

K. Kaukinen, I. Korponay-Szabo, K. Mustalahti, M. Balogh, 

M. Mäki, P. Saavalainen. 

2178W Whole genome linkage analysis to identify 

genes for childhood dental caries. N. Mukhopadhyay, 

M. Govil, Z. Zheng, E. Feingold, D. E. Weeks, J. R. Shaffer, 

X. Wang, R. J. Weyant, R. Crout, D. W. McNeil, M. L. 

Marazita. 

2179T simQTL: Software for simulation of a complex 

etiological model under a set of epidemiological 

model parameters. J. D. Terwilliger, K. M. Weiss, J. H. 

Lee, B. Lambert. 

2180F A hybrid likelihood model for sequence-based 

disease association studies. Y. Chen, H. Carter, J. Parla, 

M. Kramer, F. S. Goes, M. Pirooznia, P. P. Zandi, W. R. 

McCombie, J. B. Potash, R. Karchin. 

2181W Novel methods for combined linkage and 

association analyses of complex quantitative traits in 

very large families sheds light on genetics of musical 

aptitude. Y. Huang, J. Oikkonen, L. Ukkola-Vuoti, P. 

Raijas, K. Karma, P. Onkamo, A. Thomas, I. Jarvela, 

V. J. Vieland. 

2182T Linkage and genome-wide association studies 

reveal distinct facets of the genetic architecture of 

alopecia areata. L. Petukhova, A. M. Christiano. 


2183F Rare and common variants in extracellular 

matrix gene, FBN2, are associated with Mendelian and 

multifactorial macular degenerative disease. R. R. Priya, 

X. Zhan, R. N. Fariss, C. F. Chakarova, K. E. Branham, 

M. M. Campos, J. S. Friedman, B. Brooks, H. K. Rajasimha, 

M. A. Morrison, S. G. Jacobson, M. L. Klein, E. Y. Chew, 

D. Stambolian, M. M. DeAngelis, S. S. Bhattacharya, J. R. 

Heckenlively, G. R. Abecasis, A. Swaroop. 

2184W Genetic evidence for an ethnic diversity in the 

susceptibility to Ménière’s disease. J. Ohmen, C. White, 

J. Wang, L. Fisher, H. Zhang, M. Derebery, R. Friedman. 

2185T Genomics of response to healing following a 

meniscectomy. D. D. Vance, L. Wang, E. Rampersaud, 

T. Guettouche, W. H. Cade, R. L. Belton, B. P. Lesniak, 

J. M. Vance, M. A. Pericak-Vance, L. D. Kaplan. 

2186F GWAS of host-pathogen interactions implicates 

methionine salvage and microtubules in regulation of 

inflammatory cell death. D. C. Ko, K. P. Shukla, S. I. Miller. 

2187W An integrative approach to mapping complex, 

glycemic traits in skeletal muscle tissue. S. Keildson, 

J. Fadista, C. Ladenvall, A. K. Hedman, H.-F. Zheng, 

L. Groop, P. Franks, O. Hansson, C. M. Lindgren, MuTHER 

Consortium. 

2188T -eQTL analysis of dysregulated interferonpathway 

genes identifies OAS1 as a novel candidate for 

susceptibility to Sjögren’s syndrome. H. Li, J. A. Ice, 

J. A. Kelly, I. Adrianto, S. B. Glenn, K. S. Hefner, E. S. 

Vista, D. U. Stone, R. Gopalakrishnan, G. D. Houston, 

D. M. Lewis, M. D. Rohrer, P. Hughes, J. B. Harley, C. G. 

Montgomery, J. Chodosh, J. A. Lessard, J.-M. Anaya, B. M. 

Segal, N. L. Rhodus, L. Radfar, M. B. Frank, R. H. Scofield, 

C. J. Lessard, K. Moser Sivils. 

2189F Integrative genomic analysis identifies multiple 

loci influencing the human immune response to 

influenza vaccination. L. M. Franco, K. L. Bucasas, 

J. M. Wells, D. Nino, X. Wang, G. E. Zapata, N. Arden, 

J. M. Quarles, M. S. Bray, R. B. Couch, J. W. Belmont, 

C. A. Shaw. 

2190W Barrett’s esophagus and esophageal 

adenocarcinoma show substantial polygenetic variance, 

with genetic overlap between the diseases. W. E. Ek, 

D. Whiteman, D. M. Levine, T. L. Vaughan, S. MacGregor on 

behalf of BEAGESS Study Investigators. 

2191T Rare germline copy number variants in Hodgkin 

lymphoma families. M. Rotunno, M. L. McMaster, 

L. R. Goldin. 

2192F The proportion of heritability of type 2 diabetes 

estimated through GWAS that is attributable to 

functional genetic variation. J. M. Torres, E. R. Gamazon, 

S. K. Das, H. M. Highland, G. I. Bell, C. L. Hanis, N. J. Cox. 

2193W Proportion of heritability and implications of 

pleiotropy attributable to GWAS hits for ECG phenotypes 

in the Erasmus Rucphen Family Study. A. Isaacs, C. Silva, 

J. A. Kors, B. A. Oostra, C. M. van Duijn. 


POSTER SESSIONS


2194T The role of genes and life-course-related 

processes in onset of common diseases in late life. 

A. Kulminski, I. Culminskaya, K. Arbeev, S. Ukraintseva, 

L. Arbeeva, A. Yashin. 

2195F Ancestry-directed sequence analysis for rare 

variants in admixed populations. E. Ziv, D. Hu. 

2196W The convergence of functional genomics, 

heritability estimation and polygenic modeling: 

Emerging spectrum of allelic variation in bipolar 

disorder. E. R. Gamazon, H. K. Im, C. Liu, D. L. Nicolae, 

N. J. Cox. 

2197T Contributions of cis and trans eQTLs to the 

heritability of schizophrenia. C. Jumper, E. R. Gamazon, 

A. Konkashbaev, C. Liu, D. L. Nicolae, N. J. Cox. 

2198F The contribution of sequencing-based GWAS in 

explaining the missing heritability of quantitative traits. 

E. Porcu, C. Sidore, M. Steri, F. Busonero, A. Mulas, 

M. Dei, S. Lai, M. G. Piras, S. Naitza, D. Schlessinger, 

G. Abecasis, S. Sanna, F. Cucca. 

2199W Polygenic analysis shows that low frequency 

SNPs confer early onset myocardial infarction risk. 

E. Stahl, R. Do, B. Vilhjalmsson, N. Stitziel, S. Sunyaev, A. 

Price, R. M. Plenge, S. Kathiresan, S. Raychaudhuri. 

2200T Ubiquitous polygenicity of human complex 

traits: Genome-wide analysis of 49 traits in Koreans. 

J. Yang, T. Lee, J. Kim, S. Cho, P. Visscher, H. Kim. 

2201F Prediction of human height with large panels of 

SNPs: Insights into genetic architecture. Y. C. Klimentidis, 

A. I. Vazquez, G. de los Campos. 

2202W Heritability estimation of height from common 

genetic variants in a large sample of African Americans. 

F. Chen, G. K. Chen, R. C. Millikan, E. M. John, C. B. 

Ambrosone, L. Berstein, W. Zheng, J. J. Hu, R. G. Ziegler, 

S. L. Deming, E. V. Bandera, W. J. Blot, S. S. Strom, S. I. 

Berndt, R. A. Kittles, B. A. Rybicki, W. Issacs, S. A. Ingles, 

J. L. Stanford, W. R. Diver, J. S. Witte, L. B. Signorello, S. J. 

Chanock, L. Le Marchand, L. N. Kolonel, B. E. Henderson, 

C. A. Haiman, D. O. Stram. 

2203T Optimizing risk stratification to discover novel 

neuroblastoma genes. A. Goldenberg, B. Wang, S. Diskin, 

J. M. Maris, M. Irwin. 

2204F Correlations between associated SNPs cause 

upward bias in whole genome-based heritability 

estimation. C. Li, C. Yang, J. Ferguson, J. Cho, H. Zhao. 

2205W Enrichment of rare non-synonymous variants 

in 196 lipid-associated genes in subjects with extreme 

levels of HDL-C: Evidence for rare allele model in 

etiology of dyslipidemia. M. M. Motazacker, J. Peter, M. 

Treskes, J. A. Kuivenhoven, G. K. Hovingh. 

2206T Missing heritability and the use of genome-wide 

expression data as an indicator of genetic variation in 

genome scans. P. Schliekelman, G. Sun, S. Zhang. 

2207F Estimating the proportion of variation in 

susceptibility to PTSD captured by common SNPs. 

C. Yang, J. Gelernter, C. Li, H. Kranzler, L. Farrer, H. Zhao. 

2208W Simulation-based study investigating “missing 

heritability”: A euphemism for the abject failure of 

modern genomics to elucidate the etiology of complex 

traits. J. H. Lee, R. Cheng, K. M. Weiss, T. Hiekkalinna, 

J. D. Terwilliger. 

2209T A quantitative population genetic framework to 

constrain the range of genetic architectures underlying 

complex human traits. V. Agarwala, J. Flannick, S. Sunyaev, 

D. Altshuler. 

2210F Multi-ethnic polygenic prediction in CARe and 

other cohorts contrasts the genetic architectures of 

height and body mass index. E. K. Speliotes, J. O’Connell, 

R. Do, B. Vilhjalmsson, S. Pollack, Y. Gong, N. Patterson, M. 

Akylbekova, A. Cupples, M. Fornage, J. Hirschhorn, W. H. L. 

Kao, L. Lange, G. Lettre, M. Li, J. Mychaleckyj, S. Musani, 

G. Papanicolaou, J. I. Rotter, D. Siscovick, X. Zhu, J. G. 

Wilson, . GIANT Consortium, J. Johnson, P. I. W. de Bakker, 

S. Raychaudhuri, R. M. Plenge, A. Price, E. A. Stahl. 

2211W Can asthma genes predict asthma? 

J. A. Curtin, D. Belgrave, J. Hankinson, A. Custovic, 

A. Simpson. 

2212T What is the total SNP-associated heritability 

for alcohol dependence? N. G. Martin, G. Zhu, P. A. 

Lind, A. C. Heath, P. A. F. Madden, M. L. Pergadia, G. W. 

Montgomery, J. B. Whitfield. 

2213F A knockout mouse model for canine juvenile 

epilepsy. E. M. Nevalainen, E. Seppala, H. Lohi. 

2214W ER stress response genes and their natural 

variation, discovered using the Drosophila model 

system. C. Y. Chow, M. F. Wolfner, A. G. Clark. 

2215T Physical and genetic interactions between BBS 

genes and CEP290. Y. Zhang, K. Bugge, C. C. Searby, 

R. F. Mullins, S. Seo, V. C. Sheffield. 

2216F Vacuolated lens-associated neural tube defects 

are regulated on a multigenic basis by Cdx and retinoic 

acid signaling pathway. B. Li, P. Matteson, M. Ababon, 

A. Q. Nato, T. Matise, V. Nanda, J. Millonig. 

2217W HLA class-I supertypes are associated with 

specific M. tuberculosis strain infections. M. Salie, L. van 

der Merwe, M. Moller, M. Martin, X. Gao, R. Warren, M. 

Carrington, E. Hoal. 

2218T Peripheral blood cell counts are heritable in a 

large, unselected rhesus macaque pedigree. A. Vinson, 

A. D. Mitchell, D. Toffey. 

2219F A copy number variant at the KIT ligand locus 

confers risk for canine squamous cell carcinoma of the 

digit. E. A. Ostrander, B. Decker, E. Carlins, B. VonHoldt, 

G. Carpintero-Ramirez, H. G. Parker, R. K. Wayne, D. M. 

Karyadi. 


2220W Large-scale transcriptional and epigenetic 

changes bridge maternal nutritional imbalance and 

metabolic syndrome. X. Yang, L. Peterson, T. Fare, 

J. Zhu, R. Kleinhanz, C. Suver, A. M. Cumiskey, R. L. Rosa, 

A. Vosatka, M. Skinner, E. E. Schadt, P. Y. Lum. 

2221T Gene expression profiling in mild traumatic brain 

injury, post-traumatic stress disorder, sleep disorders 

and depression among redeployed military personnel. 

H. Lee, D. Wang, R. Pierce, T. Baxter, R. Dionne, H. Kim, 

V. Mysliwiec, T. Barr. 

2222F Genetics of obesity across development in a 

model system. C. A. Schmitt, S. Service, R. M. Cantor, 

A. J. Jasinska, M. J. Jorgensen, J. R. Kaplan, N. B. Freimer. 

2223W Modeling 3D facial shape in relation to sex and 

genomic ancestry estimated from DNA. M. D. Shriver, 

P. Claes, D. K. Liberton, K. M. Rosana, E. E. Quillen, 

L. N. Pearson, B. McEvoy, M. Bauchet, H. Tang, G. Barsh, 

D. M. Absher, D. A. Puts, J. Rocha, S. Beleza, R. W. Pereira, 

J. K. Wagner, J. Boster. 

2224T Endogenous DUX4 induces myotube-specific 

apoptosis in FSHD muscular dystrophy and is 

regulated by Wnt/b-catenin signaling. G. J. Block, 

D. Narayanan, A. M. Amell, L. M. Petek, D. G. Miller. 

2225F Development of a novel Col3a1 transgenic 

mouse model for vascular Ehlers-Danlos syndrome. 

F. Malfait, Y. Kang, S. Symoens, P. Coucke, M. Renard, B. 

Guillemyn, J. De Backer, F. Branco-Madeira, W. Toussaint, 

L. Vanhoutte, S. Janssens, B. Descamps, C. Vanhove, P. 

Segers, B. Lambrecht, A. De Paepe. 

2226W An integrative genetic and metabolomic analysis 

suggests altered phosphatidylcholine metabolism in 

asthma. J. S. Ried, H. Baurecht, F. Stückler, J. Krumsiek, 

J. Adamski, C. Gieger, J. Heinrich, M. Kabesch, A. Peters, 

E. Rodriguez, K. Suhre, R. Wang-Sattler, K. Strauch, H.-E. 

Wichmann, F. J. Theis, T. Illig, S. Weidinger. 

2227T Genomic data integration reveals molecular 

modularity of Parkinson disease. A. Dumitriu, Y. Xia, 

R. H. Myers. 

2228F Pathway analysis of the GENEVA Alcohol 

Consumption GWAS meta-analysis. O. Harari, A. Goate, 

GENEVA Alcohol Consumption Working Group. 

2229W Pathway-based meta analysis of ulcerative 

colitis genome-wide association studies. C. Kao, 

Z. Wei, J. Li, W. Wang, J. Glessner, C. Cardinale, 

J. Bradfield, E. Frackelton, C. Kim, F. Mentch, H. Qui, 

S. Grant, R. Baldassano, H. Hakonarson, International IBD 


2230T Shared genetic variants between traits and 

diseases reveal novel disease risk factors. L. Li, D. 

Ruau, C. Patel, R. Chen, A. Butte. 

2231F Comparison of pathways implicated in anticitrillunated 

peptide antibody positive and negative 

rheumatoid arthritis patients. P. Martin, S. Viatte, A. Brass, 

S. Eyre, Rheumatoid Arthritis Consortium for Immunochip. 


2232W Patterns of genetic expression in mental 

retardation associated or not with microcephaly. 

T. F. Almeida, D. V. Bernardo, C. R. D. C. Quaio, G. L. 

Yamamoto, E. D. F. Carvalho, C. A. Kim, D. R. Bertola. 

2233T Molecular analysis of GABRA1 and EFHC1 genes 

in patients with juvenile myoclonic epilepsy and other 

idiopathic generalized epilepsies. C. V. Soler, M. C. 

Gonsales, F. A. Oliveira, L. E. Betting, F. Cendes, I. Lopes- 

Cendes. 

2234F Genome-wide expression analysis of idiopathic 

scoliosis endophenotypes. K. Gorman, S. Bouhnik, 

Q. Yuan, C. Julien, A. Franco, K. Choquet, L. Suvarnan, 

M.-Y. Akoume, A. Moreau. 

2235W Molecular profiling of osteogenic disregulation 

in non-syndromic craniosynostosis: New insights 

from microarray and morphological studies. M. Barba, 

W. Lattanzi, G. Tamburrini, M. C. Geloso, L. Massimi, 

M. A. Puglisi, M. Caldarelli, C. Di Rocco, F. Michetti, 

C. Bernardini. 

2236T Network-based genomic mapping highlights 

the influence of central-nervous system pathways on 

obesity. M. Nikpay, P. Lau, R. Dent, R. McPherson. 

2237F A comprehensive knowledgebase of autism 

genetic evidence. Y. Huang, L. Xu, J. Li, M. Zhao, 

X. Tang, L. Wei. 

2238W Mathematical modeling of the insulin signal 

transduction pathway for prediction of insulin 

sensitivity from expression data. C. K. Ho, J. C. Liao, 

G. Sriram, K. M. Dipple. 

2239T Examining genetic risk factors of obesity: 

Pathway analysis of GWAS data. M. A. Simonson, 

M. C. Keller, M. B. McQueen. 

2240F Hypothesis independent pathway analysis 

identifies biologic pathways implicated in POAG 

etiology. B. L. Yaspan, J. L. Wiggs, L. R. Pasquale, 

S. J. Loomis, J. H. Kang, D. L. Budenz, D. S. Friedman, 

D. Gaasterland, T. Gaasterland, R. K. Lee, P. R. Lichter, 

Y. Liu, C. A. McCarty, S. E. Moroi, L. M. Olson, J. E. 

Richards, T. Realini, J. S. Schuman, K. Singh, D. Vollrath, 

G. Wollstein, D. J. Zack, R. R. Allingham, M. A. Pericak- 

Vance, R. N. Weinreb, K. Zhang, M. A. Hauser, J. L. Haines. 

2241W Selecting likely causal genes from genome-wide 

association studies of BMI and height by integrative 

network-based analysis. T. H. Pers, S. Vedantam, T. Esko, 

F. Day, S. Berndt, S. Gustafsson, A. E. Locke, A. R. Wood, 

B. Kahali, D. C. Croteau-Chonka, C. Powell, P. Dworzynski, 

C. E. Thomas, A. G. Pedersen, S. Brunak, A. Justice, 

K. L. Mohlke, E. Ingelsson, R. J. F. Loos, E. K. Speliotes, 

T. M. Frayling, J. N. Hirschhorn, Genetic Investigation of 

ANthropometric Traits Consortium. 

2242T A systems biology approach to ionotropic 

GABAergic networks in epilepsy, a model of complex 

neurogenetic disease. M. Jaworski. 


POSTER SESSIONS


2243F P2RX7 SNPs and external apical root resoprtion 

during orthodontia. J. Hartsfield, G. Falcao-Alencar, 

J. Dempsey, E. Jacobson, G. Kluemper, D. Fardo, J. Macri, 

L. Morford. 

2244W Pathway analysis of variation in DNA repair 

genes indicates involvement of repair of oxidative DNA 

lesions in human longevity. M. Soerensen, B. Debrabant, 

J. Mengel-From, T. Stevnsner, V. A. Bohr, K. Christensen, 

Q. Tan, L. Christiansen. 

2245T Constructing endophenotypes of complex 

disease using nonnegative matrix factorization and 

adjusted Rand index. H. M. Wang, C. L. Hsiao, 

A. R. Hsieh, Y. C. Lin, S. J. Fann. 

2246F Candidate genes of several complex diseases 

via an integrated analysis of GWAS and eQTL. C. Fuller, 

X. He, Y. Song, H. Li. 

2247W Association study-based gene-set enrichment 

analysis identified biological pathways associated with 

fetal hemoglobin levels in sickle cell disease patients. 

G. Galarneau, S. Coady, M. Puggal, N. Jeffries, D. Paltoo, 

A. Kutlar, G. J. Papanicolaou, G. Lettre. 

2248T Performances of single-SNP and pathway-based 

analyses of genome-wide data to detect genetic factors 

shared by eosinophil and basophil counts in asthmaascertained 

families. C. Loucoubar, M. Brossard, P.-E. 

Sugier, A. Vaysse, P. Jeannin, M.-H. Dizier, M. Lathrop, E. 

Bouzigon, F. Demenais, EGEA Collaborative Group. 

2249F Association of common genetic variants with 

hypoxemia among non-Hispanic White and African 

American COPD cases highlights hematological 

disease genes. M. N. McDonald, M. H. Cho, E. Wan, 

P. Castaldi, D. A. Lomas, H. O. Coxson, L. D. Edwards, 

W. MacNee, J. Vestbo, J. C. Yates, A. Agusti, P. M. A. 

Calverley, B. Celli, C. Crim, S. Rennard, E. Wouters, P. 

Bakke, X. Kong, R. Tal-Singer, B. Miller, A. Gulsvik, E. 

A. Regan, B. J. Makke, C. Lange, J. E. Hokanson, J. D. 

Crapo, T. H. Beaty, E. K. Silverman, C. P. Hersh on behalf 

of ECLIPSE and COPDGene Coauthors. 

2250W ICAM3 expression level integrates the 

effects of six MS susceptibility alleles: Dissecting 

a molecular cascade relevant to MS susceptibility. 

T. Raj, M. Kuchroo, L. B. Chibnik, L. Ottoboni, X. Hu, B. T. 

Keenan, S. Raychaudhuri, B. E. Stranger, P. L. De Jager. 

2251T Random enrichment of minor alleles of common 

SNPs affects complex traits and diseases in model 

organisms and humans. S. Huang, X. Tan, J. Liang, 

C. Zeng, J. Zhang, J. Chen, L. Ma, A. Dogan, 

G. Brockmann, O. Goldmann, E. Medina, M. Xian, K. Yi, 

Y. Li, Q. Lu, Y. Huang, D. Wang, J. Yu, H. Guo, K. Xia, 

Z. Zhu, D. Yuan. 

2252F Functional characterization of DcR3 and NF-kB in 

EBV transformed cell lines from IBD patients of different 

allelic background and role in disease pathogenesis. 

R. Pandey, C. J. Cardinale, S. Panossian, F. Wang, E. 

Frackelton, C. Kim, F. Mentch, R. Chiavacci, K. Kachelries, 

S. Grant, R. Baldassano, H. Hakonarson. 

2253W Integrative analysis of whole-gene coexpression 

network and exome sequence data to 

characterize pathways relevant to rheumatoid arthritis. 

H. Nakaoka, S. Mitsunaga, H. Inoko, I. Inoue. 

2254T Integrating genetic linkage analysis and 

computational prioritization in identifying host genetic 

factors response to influenza A virus infection. S. Bao, 

X. Zhou, X. Zhang, P. Tang, J. Zhou, Y. Li, K. To, Y. Song. 

2255F Molecular markers of severe cerebral malaria: 

Expression of complement and Toll-like receptor pathway 

genes associates with the malaria severity in Mali. 

R. Sobota, J. Manning, A. Dara, A. Niangaly, A. Djimde, 

O. Doumbo, A. Kone, M. Thera, G. Vernet, P. Leissner, 

C. Plowe. 

2256W Cross-ethnic gene co-expression network 

analysis in human adipose reveals novel triglyceride 

genes. D. Weissglas, B. E. Haas, S. Horvath, K. H. 

Pietiläinen, R. M. Cantor, E. Nikkola, A. Rissanen, M. 

Civelek, I. Cruz-Bautista, L. Riba, J. Kuusisto, J. Kaprio, T. 

Tusie-Luna, M. Laakso, C. A. Aguilar-Salinas, P. Pajukanta. 

2257T Discovery and replication of nuclear genes 

influenced by mitochondrial genetic variation. J. Hall, 

W. Bush. 

2258F Polygenic inheritance of paclitaxel-induced 

peripheral neuropathy driven by axon outgrowth gene 

sets. A. Chhibber, J. Mefford, S. A. Pendergrass, R. M. 

Plenge, M. D. Ritchie, E. A. Stahl, J. S. Witte, D. L. Kroetz. 

2259W Association of adrenomedullin gene 

polymorphisms and lipid levels in Chinese population. 

S. Chen, X. Lu, L. Wang, H. Li, J. Huang, D. Gu. 

2260T A high-throughput molecular assay for detection of 

renal graft acute cellular rejection using peripheral blood. 

M. Mikula, O. Zhukov, F. M. Hantash, N. Park, K. Zhang, J. R. 

Rion, P. Putheti, C. Snopkowski, A. Buller-Burckle, J. Popov, 

W. Sun, B. Crossley, M. P. Hernandez-Fuentes, S. Sacks, M. 

Suthanthiran, T. B. Strom, C. M. Strom, S. J. Naides. 

2261F Protein interaction networks reveal novel autism 

risk genes within GWAS statistical noise. C. Correia, 

Y. Diekmann, G. Oliveira, J. B. Pereira- Leal, A. M. Vicente, 

Autism Genome Project. 

2262W Systems biology in a non-human primate model: 

Transcriptomes of normal development in the vervet 

monkey. A. J. Jasinska, N. Tran, C. Blum, J. DeYoung, 

O.-W. Choi, Y. Huang, P. Thomas, E. Eskin, K. Dewar, 

J. Wasserscheid, G. M. Weinstock, W. Warren, M. Jorgensen, 

R. Cantor, R. Woods, G. Coppola, N. Freimer. 

2263T Estrogen pathway polymorphisms in relation 

to primary open angle glaucoma in the GLAUGEN 

study and the NEIGHBOR consortium. S. Loomis, 

L. R. Pasquale, B. L. Yaspan, J. H. Kang, D. Gaasterland, 

T. Gaasterland, R. K. Lee, P. R. Lichter, Y. Liu, C. A. 

McCarty, S. E. Moroi, L. Olson, J. S. Schuman, K. Singh, 

D. Vollrath, G. Wollstein, D. J. Zack, R. R. Allingham, M. A. 

Pericak-Vance, R. N. Weinreb, K. Zhang, M. A. Hauser, J. E. 

Richards, J. L. Haines, J. L. Wiggs, NEIGHBOR Consortium. 


2264F Possible roles of miRNA to regulate effective 

signaling network in controlling cell fate. M. Nomura, 

S. Kondo, T. Nagashima, Y. Suzuki, M. Okada- 

Hatakeyama. 

2265W Unraveling the molecular mechanisms 

underlying the teratogenicity of Topamax (topiramate). 

S. K. Rafi, A. J. Olm-Shipman, I. Saadi. 

2266T The CARTaGENE Genomics Project: Systems 

genetics of cardiometabolic phenotypes. Y. Idaghdour, 

J.-P. Goulet, J. Hussin, A. Hodgkinson, E. Gbeha, J.-C. 

Grenier, T. de Malliard, V. Bruat, E. Hip-Ki, C. Boileau, Y. 

Payette, P. Awadalla. 

2267F Association of insulin-like growth factor-1 

gene polymorphism in Kuwaiti Arab patients with 

rheumatoid arthritis. M. Haider, G. S. Dhaunsi, 

S. S. Uppal. 

2268W Variations within ARID5B, CEBPE, and 

IKZF1 and risk of childhood leukemia. L. Hsu, 

A. Chokkalingam, C. Metayer, J. Wiemels, P. Buffler. 

2269T Contribution of common PCSK1 genetic variants 

to obesity in a sample of 8,359 subjects from two 

multi-ethnic American populations. H. Choquet, 

J. Kasberger, A. Hamidovic, M. Fornage, E. Jorgenson. 

2270F Association between IRF6 gene and nonsyndromic 

cleft lip and/or palate in Brazil. T. Felix, 

L. T. Souza, T. W. Kowalski, I. L. Monlleó, E. M. Ribeiro, J. 

Souza, G. F. Leal, A. C. Fett-Conte, V. Gil-da-Silva-Lopes. 

2271W Validation of the PPP1R12B as a candidate gene 

for childhood asthma susceptibility. M. B. Freidin, A. V. 

Polonikov. 

2272T Association of the SNP rs 9939609 of the fat 

mass and obesity associated gene (FTO) with the risk 

for obesity in children from Yucatan, Mexico. 

L. Gonzalez-Herrera, N. Mendez-Dominguez, F. Herrera- 

Sanchez, G. Uicab-Pool, V. Hernandez-Escalante, L. Ruiz- 

Ortiz, G. Storey-Montalvo, J. Zavala-Castro. 

2273F Shared genetic loci between leprosy and 

inflammatory bowel disease in Korean patients. 

Y. Jung, M. Hong, J. Baek, S. Yang, K. Song. 

2274W Fatness related allelic variant near insulin 

receptor substrate 1 gene is associated with low 

low-density lipoprotein cholesterol in childhood and 

a better cardiometabolic profile in their adulthood: 

The Bogalusa Heart Study. S. Li, W. Chen, E. N. Smith, 

S. S. Murray, C. Fernandez, J. Xu, S. R. Srinivasan, N. J. 

Schork, G. S. Berenson. 

2275T Genetic variants associate with nonalcoholic 

fatty liver disease in African and Hispanic Americans. 

S. K. Musani, N. D. Palmer, M. F. Feitosa, M. A. Jhun, L. M. 

Yerges-Armstrong, R. Hernaez, J. Liu, B. Kahali, J. J. Carr, 

T. B. Harris, A. V. Smith, L. E. Wagenknecht, I. B. Borecki, 

E. K. Speliotes, L. F. Bielak for Genetics of Obesity-Related 

Liver Disease Consortium. 


2276F Genetic association to ERAP1 in psoriasis 

is confined to disease onset after puberty and not 

dependent on HLA-C*06. P. Nikamo, J. Lysell, 

L. Padyukov, I. Kockum, M. Ståhle. 

2277W On the association of common polygenic variation 

with body mass index across adolescent development: 

A longitudinal twin study. R. E. Peterson, B. T. Webb, E. C. 

Prom-Wormley, J. L. Silberg, L. J. Eaves, H. H. Maes. 

2278T Absence of the chromosome 16p11.2 

duplication in metabolically normal, constitutionally 

thin individuals with extremely low BMI. J. Hager, 

N. Germain, E. Meugnier, B. Galusca, H. Vidal, B. Estour. 

2279F Lack of association of genetic variants in 

PROX1, ADCY5, SLC2A2, DGKB-TMEM195, ADRA2A, 

CRY2, FADS1, IGF1 and C2CD4B with glucose- and 

insulin-related traits in Chinese adolescents. R. C. W. 

Ma, C. Tam, G. Jiang, J. Ho, V. Lam, Y. Wang, H. M. Lee, 

A. Kong, W. Y. So, J. Chan. 

2280W Combined effects of genetic variants identified 

from genome-wide association studies increased risk 

of type 2 diabetes in Chinese. C. Tam, J. Ho, Y. Wang, 

V. Lam, M. Ng, R. Ma, W. So, J. Chan. 

2281T AGRP SNPs and gender effects on obesity in 

African Americans. E. Shah, A. Patterson, U. Al-Alem, 

R. A. Kittles. 

2282F Pleiotropic effects of obesity-susceptibility loci 

on metabolic traits: A meta-analysis of up to 37,874 

individuals. J. van Vliet-Ostaptchouk, M. den Hoed, J. 

Luan, J.-H. Zhao, K. K. Ong, P. J. van der Most, A. Wong, R. 

Hardy, D. Kuh, M. M. van der Klauw, M. Bruinenberg, B. H. R. 

Wolffenbuttel, N. J. Wareham, H. Snieder, R. J. F. Loos. 

2283W Investigation of celiac disease susceptibility 

variants in the Irish population using the immunochip. 

C. Coleman, E. Quinn, A. W. Ryan, J. Conroy, S. Ennis, 

V. Trimble, R. McManus. 

2284T Risk alleles associated with ANA production in 

healthy population or transition to autoimmunity. E. 

Wakeland, P. Raj, E. Rai, Q. Z. Li, D. Karp, P. Doshi, 

N. Olsen, K. M. Sivils, J. James, J. Kelly, B. Lauwerys. 

2285F Interleukin-18 genetic polymorphism and 

Kawasaki disease in Han Chinese children. H. Chi, 

M.-R. Chen, N.-C. Chiu, F.-Y. Huang, H.-W. Chan, S.-C. 

Chang, C.-L. Lin, Y.-J. Lee. 

2286W Association between IL1A, IL1B and TNFA 

polymorphisms and glaucoma in a Brazilian population. 

M. B. Oliveira, J. P. C. Vasconcellos, V. P. Costa, M. B. Melo. 

2287T Evaluation of new classification criteria for 

HLA-DRB1 alleles based on three amino acid positions 

(11, 71 and 74) in Japanese RA patients: Disease 

susceptibility and severity. S. Yoshida, K. Ikari, K. Yano, 

Y. Toyama, A. Taniguchi, H. Yamanaka, S. Momohara. 

2288F Genetic susceptibility to leptospirosis in the 

Azorean island of São Miguel population. L. M. Esteves, 

S. M. Bulhıes, M. J. Brilhante, C. C. Branco, F. M. Mota, C. 

Paiva, M. L. Vieira, L. Mota-Vieira. 


POSTER SESSIONS


2289W A replication study supports NOD2 and CCDC122 

as leprosy susceptibility genes. H. Salomão, W. L. Silva, 

P. Medeiros, V. M. Fava, I. M. F. Dias-Baptista, M. L. C. 

Virmond, M. O. Moraes, M. T. Mira, A. C. Pereira-Latini. 

2290T Positive association of apolipoprotein E4 

polymorphism with recurrent pregnancy loss in Iranian 

patients. M. T. Akbari, N. Asgari. 

2291F Investigation of rs4236601 and rs4977756 SNPs 

in a primary open-angle glaucoma Brazilian population. 

H. F. Nunes, M. B. Oliveira, J. P. C. Vasconcellos, V. P. 

Costa, M. B. de Melo. 

2292W Role of genetic variation at the FTO gene 

in genetic susceptibility to osteoarthritis. K. 

Panoutsopoulou, S. Metrustry, S. Doherty, L. L. Laslett, R. 

A. Maciewicz, D. J. Hart, W. Zhang, K. R. Muir, M. Wheeler, 

arcOGEN Consortium, C. Cooper, T. Spector, F. M. Cicuttini, 

G. Jones, N. K. Arden, M. Doherty, E. Zeggini, A. Valdes. 

2293T Association of COX-2, IL-1b and IL-1 RN 

gene polymorphisms with susceptibility to chronic 

periodontitis in North India population. G. Prakash, 

S. Ajay, K. K. Gupta, J. Dixit, D. Bali, B. Mittal. 

2294F A variant of filaggrin are associated with 

susceptibility to food allergy in the Japanese 

population. T. Hirota, M. Ebisawa, T. Imai, Y. Suzuk, 

N. Shimojo, Y. Kohno, M. Kubo, M. Tamari. 

2295W AKT1 fails to replicate as a longevity-associated 

gene in Danish and German nonagenarians and 

centenarians. M. Nygaard, M. Soerensen, 

F. Flachsbart, J. Mengel-From, Q. Tan, S. Schreiber, 

A. Nebel, K. Christensen, L. Christiansen. 

2296T Association of HLA-DRB1 and HLA-DQB1 genes 

with asthma in the Spanish population. M. Pino-Yanes, 

A. Corrales, M. Acosta-Herrera, J. Cumplido, F. Sánchez- 

García, R. González, J. Figueroa, I. Sánchez-Machín, 

O. Acosta, A. Sánchez-Palacios, J. C. García-Robaina, 

J. Villar, E. G. Burchard, T. Carrillo, C. Flores. 

2297F Turning the GWAS upside down: A PheWAS 

approach in studying human disease. S. Hebbring, 

S. Schrodi, Z. Ye, Z. Zhou, D. Page, M. Brilliant. 

2298W Assessment of bias in an EMR-derived cohort. 

W. S. Bush, L. C. Dumitrescu, D. C. Crawford. 

2299T Defining the use of electronic medical records 

in genetic studies of multiple sclerosis. M. F. Davis, J. L. 

McCauley, J. C. Denny, J. R. Oksenberg, S. L. Hauser, M. 

A. Pericak-Vance, J. L. Haines. 

2300F The NINDS Repository: A public resource of 

biomaterials for genetic, mechanistic and biomarker 

discovery for neurological disorders. A. Scutti, M. Self, 

K. Reeves, J. Santana, S. Heil, C. Pérez, A. Nasuti, R. 

Corriveau, C. Tarn. 

2301W Mutation of SLC45A3 in familial and sporadic 

Ménière’s disease. C. A. Campbell, B. J. Boese, C. C. 

Della Santina, C. Li, N. C. Meyer, L. T. TeGrootenhuis, 

J. Webster, D. A. Stephan, H. Najmabadi, A. Danashi, A. P. 

May, K. Fredrickson, B. J. Gantz, J. P. Carey, L. B. Minor, 

M. R. Hansen, T. T. Harkins, R. J. H. Smith. 

2302T Next-generation sequencing identifies genes 

dysregulated in otosclerotic stapes bone and provides 

a candidate gene set for filtering of whole exome 

sequence data in familial cases. J. L. Ziff, J. Lavy, H. 

Powell, S. Khalil, K. P. Steel, S. R. Saeed, S. J. Dawson. 

2303F Dissection of healthy aging by whole genome 

and exome sequencing of supercentenarian genomes. 

X. Estivill, N. Badarinarayan, P. Rosenstiel, M. Bayés, S. 

Ossowski, C. Tornador, H. Blanche, G. Escaramís, M. Gut, 

S. Heath, F. Flachsbart, A. Nebel, M. Lathrop, A. Franke, 

M. Gratacòs, S. Schreiber, I. Gut, D. Trujillano. 

2304W Whole exome sequencing cases: Fnding and 

testing with external controls. A. Hendricks on behalf of 

UK10K Statistics Group. 

2305T Whole-exome sequencing study of four families 

with bipolar disorder. E. Elhaik, M. Pirooznia, F. S. Goes, 

J. Parla, R. Karchin, A. Chakravarti, P. P. Zandi, W. R. 

McCombie, J. B. Potash. 

2306F Whole exome sequencing of five 

consanguineous families with juvenile myoclonic 

epilepsy. B. Ouled Amar Bencheikh, J. Gauthier, F. 

Lahjouji, l. Jouan, P. La Chance Touchette, K. Khaldi, H. 

Lamghari, C. Bourassa, D. Spiegelman, A. Dionne laporte, 

H. Daoud, F. Hamdan, H. Belaidi, O. Ouazzani, P. Dion, P. 

Cossette, G. Rouleau. 

2307W GEnetics of Nephropathy–an International 

Effort (GENIE): CNV analysis. Y. Meng, R. M. Salem, A. 

J. McKnight, E. P. Brennan, N. Sandholm, C. Forsblom, 

J. Florez, C. Godson, P.-H. Groop, A. P. Maxwell, J. N. 

Hirschhorn for GENIE Consortium. 

2308T Whole genome sequencing identifies coding 

variants influencing canonical lipid species in Mexican 

American families. C. Bellis, P. J. Meikle, J. M. Weir, J. 

B. Jowett, T. M. Teslovich, G. Jun, S. Kumar, M. Almeida, 

J. M. Peralta, E. E. Quillen, C. Fuchsberger, A. R. Wood, 

T. M. Frayling, P. Cingolani, T. W. Blackwell, R. Sladek, 

G. Atzmon, J. Laramie, S. Lincoln, D. M. Lehman, G. 

Abecasis, M. C. Mahaney, T. D. Dyer, L. Almasy, R. 

Duggirala, J. Blangero, J. E. Curran. 

2309F Identifying non-synonymous variants exhibiting 

pleiotropic effects on preeclampsia and CVD risk 

traits. M. P. Johnson, S. P. Brennecke, J. M. Peralta, T. 

D. Dyer, M. A. Almeida, J. M. Proffitt, C. E. East, A. G. 

Comuzzie, M. C. Mahaney, L. Almasy, J. E. Curran, J. 

Blangero, E. K. Moses. 

2310W Analysis of coding variants identified from 

exome sequencing in diabetic and non-diabetic 

nephropathy genes in African Americans. J. N. Cooke, 

N. D. Palmer, M. C. Y. Ng, P. J. Hicks, J. A. Bonomo, J. M. 

Hester, C. D. Langefeld, B. I. Freedman, D. W. Bowden. 

2311T Assessing the role of low-frequency variants in 

type 2 diabetes risk using exome sequencing of 2,000 

Danish individuals. K. E. Lohmueller, T. Sparso, Q. B. Li, 

E. Andersson, N. Grarup, A. Albrechtsen, T. Korneliussen, 


K. Kristiansen, T. Hansen, G. Sanchez, I. Hallgrímsdóttir, 

J. Wang, R. Nielsen, O. Pedersen. 

2312F Whole exome sequencing identifies a novel 

mutation within the FOXP3 gene in 2-generational 

family with inflammatory bowel disease. D. T. Okou, 

K. Mondal, L. J. Kobrynski, J. G. Mulle, D. Ramachandran, 

V. C. Patel, P. Bose, J. P. Waters, P. Sampath, D. J. Cutler, 

M. E. Zwick, S. Kugathasan. 

2313W Identification of rare genetic variants that 

contribute to diabetic nephropathy in type 2 diabetes 

through family-based targeted exome sequencing. 

M. G. Pezzolesi, J. Jeong, A. M. Smiles, J. Skupien, J. C. 

Mychaleckyj, S. S. Rich, J. H. Warram, A. S. Krolewski. 

2314T Exome sequencing and functional data identify 

PRDM1 and NPD52 as susceptibility factors in 

Crohns disease. A. Franke, D. Ellinghaus, 

H. Zhang, S. Schreiber, M. Parkes. 

2315F Exome sequencing for Crohns disease 

pedigrees. B.-S. Petersen, Y. Zeissig, M. Kohl, S. 

Schreiber, S. Zeissig, A. Franke. 

2316W Whole-exome sequencing of patients with 

isolated biliary atresia. E. A.-L. Tsai, S. Sukhadia, 

C. Grochowski, C.-F. Lin, O. Valladares, L.-S. Wang, 

L. Leonard, G. D. Schellenberg, K. M. Loomes, B. A. 

Haber, M. Devoto, N. B. Spinner. 

2317T Identification of low-frequency and common 

variants associated with circulating levels of vitamin 

B 12 and folate. N. Grarup, C. H. Sandholt, P. Sulem, 

T. S. Ahluwalia, T. Sparsø, A. Albrechtsen, L. Husemoen, 

D. R. Witte, Y. Li, A. Linneberg, R. Nielsen, T. Jørgensen, J. 

Wang, T. Hansen, U. Thorsteinsdottir, K. Stefansson, 

O. Pedersen. 

2318F Whole-exome sequencing in age-related 

macular degeneration (AMD) using a highly-discordant 

phenotype and genotype design: Evidence for novel 

loci underlying bilateral late AMD. W. K. Scott, W. H. 

Cade, M. D. Courtenay, P. L. Whitehead, I. Konidari, 

W. F. Hulme, S. G. Schwartz, J. L. Kovach, G. Wang, 

A. Agarwal, J. L. Haines, M. A. Pericak-Vance. 

2319W Deep resequencing of GWAS loci identifies a 

novel rare variant in RNF186 associated with ulcerative 

colitis. P. Goyette, M. Beaudoin, G. Boucher, C. Stevens, 

K. S. Sin Lo, A. Alikashani, M. Ladouceur, M. A. Rivas, 

S. R. Brant, R. H. Duerr, D. P. McGovern, M. S. Silverberg, 

M. D’Amato, A. Franke, S. Vermeire, G. Lettre, J. H. 

Cho, R. J. Xavier, M. J. Daly, J. D. Rioux, NIDDK and 

International IBD Genetics Consortia. 

2320T Traits of human disease significance segregating in 

the non-human primate vervet. W. Warren, A. J. Jasinska, 

N. Tran, Y. Huang, K. Dewar, J. Kaplan, P. Minx, L. Hillier, R. K. 

Wilson, M. Nordborg, G. M. Weinstock, N. B. Freimer. 

2321F Association and replication of rare allele 

windows within cis-regulatory regions to nearby gene 

expression. A. Fish, L. Wiley, W. Bush. 

Than, K. Nadeau, M. Snyder. 


2323T Whole-genome deep-coverage sequencing 

of asthma genomes. M. A. R. Ferreira, C. S. Tang, G. 

Chenevix-Trench. 

2324F Rare non-coding variant prioritization and 

burden testing in whole genome sequencing of 

complex traits. K. J. Gaulton, M. A. Rivas, M. van de 

Bunt, C. M. Lindgren, M. I. McCarthy, GoT2D Consortium. 

2325W Deep sequencing of genomic regions 

associated with cleft lip susceptibility. C. Harris, 

E. Leslie, R. Fulton, T. Miner, E. Appelbaum, C. Fronick, 

M. Mead, D. Larson, M. Adela Mansilla, A. Lidral, 

L. Moreno, J. Hecht, M. Marazita, A. Scott, T. Beaty, 

J. Murray, R. Wilson, G. Weinstock. 

2326T Exome sequencing identifies rare variants 

associated with the common pain disorder 

fibromyalgia. H. Hor, E. Docampo, R. Rabionet, M. Gut, 

M. Bayés, I. Gut, A. Collado, S. Ossowski, X. Estivill. 

2327F Application of whole genome sequencing 

to identify susceptibility loci for polycystic ovary 

syndrome. G. Kosova, R. S. Legro, A. Dunaif, M. Urbanek. 

2328W CYP1B1, MYOC and LTBP2 mutations in primary 

congenital glaucoma patients in the United States. S. 

Lim, K. Tran-Viet, T. Yanovitch, S. Freedman, 

T. Klemm, W. Call, C. Powell, A. Ravichandran, R. 

Metlapally, E. Nading, S. Rozen, T. Young. 

2329T Enhancing sequencing lab workflows in the 

SardiNIA project. A. Maschio, F. Busonero, C. Sidore, 

E. A. Ketterer, E. B. Pedersen, A. M. Chidester, A. M. 

Gurkan, M. R. Coon, M. Dei, S. Lai, A. Mulas, M. G. Piras, 

M. Lobina, B. Tarrier, S. Sanna, C. A. Brennan, G. R. 

Abecasis, F. Cucca, R. H. Lyons. 

2330F Whole-exome sequencing identifies novel risk 

variants for thrombotic storm. P. Whitehead, N. D. 

Dueker, G. Beecham, D. Hedges, A. Beecham, S. Hahn, 

N. Hofmann, J. W. Lawson, D. Erkan, L. R. Brandao, A. H. 

James, M. J. Manco-Johnson, R. Kulkarni, C. S. Kitchens, 

T. L. Ortel, J. M. Vance, M. A. Pericak-Vance. 

2331W Identification of genetic modifiers associated 

with risk of stroke in children with sickle cell anemia. 

J. M. Flanagan, H. Linder, V. Sheehan, T. A. Howard, B. 

Aygun, J. S. Hankins, M. Wang, G. A. Neale, R. E. Ware. 

2332T Implication of rare variants from European-derived 

adiposity loci in African Americans. J. Hester, P. Mudgal, J. 

Li, J. Xu, P. Hicks, B. Freedman, D. Bowden, M. Ng. 

2333F Assessing the effect of rare variants on cancer 

drug-induced cytotoxicity phenotypes using whole 

genome sequence data. A. Tikhomirov, A. Pluzhnikov, C. 

R. King, A. Konkashbaev, E. Gamazon, M. E. Dolan, D. L. 

Nicolae, N. J. Cox. 

2334W Detecting rare variant effects using extreme 

phenotype sampling in sequencing association 

studies. I. Barnett, S. Lee, X. Lin. 

2335T Whole genome sequencing to identify rare genetic 

2322W Asthma: An omics view through discordant 

monozygotic twins. R. Chen, S. Runyon, J. Li-Pook- 


POSTER SESSIONS


variation responsible for resistance to HIV infection. P. R. 

Shea, K. Pelak, K. V. Shianna, D. Ge, D. B. Goldstein, NIAID 

Center for HIV/AIDS Vaccine Immunology (CHAVI). 

2336F Rare variants are strongly associated with 

age of menarche: First results from NHLBI-Exome 

Sequencing Project. K. L. Bucasas, G. T. Wang, P. L. 

Auer, M. Kan, J. M. Murabito, N. Franceschini, E. W. 

Demerath, K. L. Lunetta, A. Rodriguez, L. A. Lange, R. D. 

Jackson, S. M. Leal, NHLBI Exome Sequencing Project. 

2337W Detecting rare variant associations with 

waist-to-hip ratio in NHLBI-ESP female cohorts. M. 

Kan, K. L. Bucasas, P. L. Auer, G. Wang, A. Rodriguez, 

J. Ellis, L. A. Cupples, Y. D. I. Chen, J. Dupuis, C. Fox, 

M. D. Gross, N. Heard-Costa, J. B. Meigs, J. S. Pankow, 

J. I. Rotter, D. Siscovick, J. G. Wilson, J. Shendure, R. 

Jackson, U. Peters, E. Whitsel, J. Zhong, D. Lin, L. Hsu, 

N. Franceschini, C. Carlson, K. E. North, L. A. Lange, A. P. 

Reiner, S. M. Leal, NHLBI Exome Sequencing Project. 

2338T Identification of rare susceptibility variants for 

bipolar disorder by exome sequencing. C. Cruceanu, A. 

Ambalavanan, J. P. Lopez, J. Gauthier, D. Spiegelman, R. G. 

Lafrenière, P. Grof, M. Alda, G. Turecki, G. Rouleau. 

2339F Deep sequencing in extended pedigrees reveals 

both common and rare non-synonymous variants 

influencing free triiodothyronine levels. J. E. Curran, S. 

Kumar, M. Almeida, J. M. Peralta, T. D. Dyer, T. M. Teslovich, 

G. Jun, C. Fuchsberger, A. R. Wood, T. M. Frayling, P. 

Cingolani, T. W. Blackwell, R. Sladek, G. Atzmon, S. P. 

Fowler, V. S. Farook, S. Puppala, J. Laramie, S. Lincoln, D. 

M. Lehman, G. R. Abecasis, R. Duggirala, J. Blangero. 

2340W Exome sequencing to identify causal variants in 

a multiplex anencephaly family. D. Krupp, K. LaRocque- 

Abramson, K. Soldano, M. E. Garrett, A. E. Ashley-Koch, 

S. G. Gregory. 

2341T Statistical power and effect size overestimation for 

combined single point and sequence kernel association 

tests in case-control studies. A. M. Valdes, F. Lari. 

2342F Exome sequencing of cluster headache patients 

with Sardinian ancestry. L. Jouan, H. Daoud, B. Ouled 

Amar Bencheikh, A. Dionne-Laporte, D. Spiegelman, 

O. Diallo, E. Henrion, A. Szuto, J. Gauthier, P. A. Dion, 

M. Manchia, M. Alda, M. Del Zompo, G. A. Rouleau. 

2343W Whole-genome sequencing analysis of more 

than 700 members of an extended pedigree. Y. Huang, 

A. Jasinska, V. Ramensky, N. Juretic, S. Service, N. Tran, 

R. Wilson, W. Warren, G. Weinstock, K. Dewar, N. Freimer. 

2344T Sequencing Initiative Suomi: Identification of loss 

of function variants enriched in the Finnish population. K. 

Rehnström, E. T. Lim, A. Palotie on behalf of SISu Consortium. 

2345F Diabetes related DNA mutations in Americans 

of Mexican origin with health disparities disclosed by 

next-gen sequencing. H. Q. Qu, Q. Li, Y. Lu, S. P. Fisher- 

Hoch, J. B. McCormick. 

2346W Exome sequencing in severe COPD cases 

and resistant smoking controls from COPDGene. M. 

H. Cho, M. Emond, R. A. Mathias, J. E. Hokanson, T. H. 

Beaty, N. Laird, C. Lange, K. C. Barnes, M. Bamshad, J. D. 

Crapo, E. K. Silverman, COPDGene Investigators, NHLBI 


2347T Meta-analyses of 6391 Danish individuals 

identify novel genetic loci associated with circulating 

levels of interleukin 18, insulin-like growth factorbinding 

protein 1, and heat shock 70kda protein 1b. 

T. S. Ahluwalia, N. Grarup, A. Albrechtsen, T. Sparsø, 

C. H. Sandholt, T. Lauritzen, D. R. Witte, T. Jørgensen, 

S. Hamren, M. Rowe, J. A. Kolberg, Y. Li, R. Nielsen, 

J. Wang, T. Hansen, O. Pedersen. 

2348F Further analysis of a visual migraine aura locus 

on chromosome 9q21-q22 using exome sequencing. 

M. E. Hiekkala, M. A. Kaunisto, B. S. Winsvold, E. 

Hämäläinen, V. Artto, S. Vepsäläinen, M. Färkkilä, M. 

Kallela, A. Palotie, M. Wessman. 

2349W Extensions of Human Variation Database in 

Japanese Integrated Database Project. A. Koike, N. 

Nishida, M. Yoshida, M. Kawashima, I. Inoue, S. Tsuji, 

K. Tokunaga. 

2350T Genetic burden analysis of common associated 

variants in an isolate population of Southern 

Ostrobothnia and in extended multiplex families. 

V. Leppä, E. Jakkula, S. Ripatti, P.-A. Gourraud, K. 

Koivisto, P. Tienari, J. Kaprio, J. Eriksson, T. Lehtimäki, S. 

Koskinen, A. Palotie, J. Saarela. 

2351F Assessing association between known PTPN22 

and SUMO4 variants and type 1 diabetes in an Indian 

population. S. R. Manyam, U. Ratnamala, K. R. S. S. Rao, 

S. K. Nath, U. Radhakrishna. 

2352W Duffy interaction with chromosome 4 determine 

the number of malaria episodes of individuals from 

Western Brazilian Amazon. J. Pescarini, L. M. Garrido, L. 

C. Pereira, R. G. M. Ferreira, L. M. A. Camargo, H. Krieger. 

2353T Role of genetic variants of inflammatory genes 

with inflammation, malnutrition and susceptibility to 

end-stage renal disease in North Indian population. 

R. Sharma, R. K. Sharma, A. Saxena, S. Agrawal. 

2354F Genetic predisposition to hypertension associates 

with increased risk of type 2 diabetes. Q. Qi, J. Forman, 

F. Hu, L. Qi. 

2355W A systemic monitoring of cleft lip/palate in Hebei 

Province of China through a birth defect surveillance: A 

15-year (1996-2010) report. J.-Z. Zhu, N. Zhong. 

2356T De novo and inherited copy number variants 

are a common cause of short stature. C. T. Thiel, D. 

Zahnleiter, U. Trautmann, A. B. Ekici, D. Wieczorek, E. 


Psychiatric Genetics, Neurogenetics 

and Neurodegeneration 

2370W Genetic association analysis between glycine 

cleavage system and schizophrenia. A. Yoshikawa, 

F. Nishimura, H. Hibino, K. Kohda, M. Tochigi, Y. Kawamura, 

T. Umekage, T. Sasaki, K. Kasai, C. Kakiuchi. 

2371T A gene search for a new spinocerebellar ataxia. 

K. Ishikawa, N. Sato, Y. Hashimoto, M. Obayashi, 

H. Matsuo, H. Mizusawa. 

2372F Combining genotype and gene expression data to 

unravel the genetics of major depressive disorder. 

S. Mostafavi, A. Battle, X. Zhu, S. Montgomery, J. B. Potash, 

M. M. Weissman, C. Haudenschild, C. McCormick, K. B. 

Beckman, R. Mei, A. Urban, D. Koller, D. F. Levinson. 

2373W Transcript profile analysis of interleukin-1 

beta gene in immature and adult zebrafish brain after 

seizure. P. G. Barbalho, F. R. Pinto, R. Mangolin, C. V. 

Maurer-Morelli. 

2374T An integrative analysis pinpoints the pathogenesis 

of autism in the cerebellar vermis. D.-A. Clevert, 

S. Hochreiter. 

2375F Common genetic variants in the GNB3, ARNTL, 

and NPAS2 loci are associated with objectively 

measured sleep traits in the elderly. D. S. Evans, 

N. Parimi, C. M. Nievergelt, K. L. Stone, T. Blackwell, S. 

Redline, S. Ancoli-Israel, E. S. Orwoll, S. R. Cummings, 

G. J. Tranah, Study of Osteoporotic Fractures and 

Osteoporotic Fractures in Men Study Groups. 

2376W GWAS of alcohol abuse and dependence in the 

CATIE schizophrenia sample. V. F. Gonçalves, C. Zai, A. 

Paterson, L. Sun, J. L. Kennedy, J. Knight. 

2377T Familial study of essential tremor at Columbia 

University. N. Hernandez, D. Tirri, L. Clark, E. Louis. 

2378F Significant linkage of familial essential tremor to 

a novel locus on chromosome 5. J. E. Hicks, I. Konidari, 

J. R. Gilbert, W. K. Scott. 

2379W Autism and obesity: Is there any mechanistic 

connection? Z. Talebizadeh, M. Miralles. 

2380T Haplotypes in the expression quantitative 

trait locus of interleukin-1� gene are associated with 

schizophrenia. M. Yoshida, K. Shiroiwa, K. Mouri, T. 

Sasada, H. Ishiguro, T. Inada, T. Arinami, O. Shirakawa, A. 

Hishimoto. 

2381F Selection of candidate genes from linkage 

regions identified by the individual behavioral domains 

of autism spectrum disorders. A. Hare, J. Flax, Z. 

Fermano, M. Azaro, A. Seto, S. Y. Cheong, S. Buyske, B. 

Zimmerman-Bier, C. W. Bartlett, L. M. Brzustowicz. 


2382W Association of Neuregulin 1 polymorphisms 

with a North Indian schizophrenia cohort. P. Kukshal, 

T. Bhatia, A. M. Bhagwat, R. E. Gur, R. C. Gur, S. N. 

Despande, V. L. Nimgaonkar, B. K. Thelma. 

2383T Single nucleotide polymorphism fine mapping of 

the AVPR1A and OXTR loci reveals an OXTR association 

with a social memory endophenotype in probands 

with autism and their family members. A. Lori, I. Lee, 

J. F. Cubells, E. B. Binder, T. Lehtimäki, K. Puura, K. N. 

Conneely, L. J. Young, D. Skuse. 

2384F The effects of ABCB1 polymorphisms and 

expression in perinatal depression. S. E. Parets, A. Lori, 

M. N. To, D. J. Newport, Z. N. Stowe, J. F. Cubells, A. K. 

Smith. 

2385W HMNC1 and COMT gene polymorphism 

associated with postpartum depression. 

M. Romano-Silva, D. M. Miranda, P. Figueira, 

H. Correa, A. Alvim-Soares. 

2386T Disrupted in schizophrenia 1 gene in autist 

patients. P. Sarda, J. Puechberty, M. Girard, A. Schneider, 

S. Taviaux, G. Lefort, D. Genevieve, A. Baghdadli. 

2387F Phenotypic description of a child with a 

10q23.1 deletion involving only NRG3. N. Sobreira, D. 

Avramopoulos, A. Pulver, B. Menten, B. Loeys, D. Valle. 

2388W Determination of a rare variant and common 

variants in COMT for their involvement in the etiology 

of smoking dependence using Mid-South Tobacco 

Case-Control study samples. J. Yang, S. Wang, J. Z. Ma, 

T. J. Payne, M. D. Li. 

2389T Copy number variations and agenesis of 

the corpus callosum, narrowing the recurrent 8p 

duplication interval. S. Esmaeeli Nieh, L. Fernandez, S. 

Sajan, E. Rider, P. Bukshpun, M. Wakahiro, J. T. Glessner, 

H. Hakonarson, S. L. Christian, W. B. Dobyns, E. H. Sherr. 

2390F Serotonin transporter and receptor genes 

significantly impact nicotine dependence through 

genetic interactions in both European American and 

African American smokers. Z. Yang, C. Seneviratne, S. 

Wang, J. Z. Ma, T. J. Payne, J. Wang, M. D. Li. 

2391W Genetic association of FKBP5 and CRHR1 

with cortisol response to acute psychosocial stress in 

healthy adults. P. B. Mahon, P. P. Zandi, J. B. Potash, 

G. Nestadt, G. S. Wand. 

2392T Associations of genetic polymorphisms in 

GRIN2B and GABRG2 with epilepsy susceptibility. C. 

Chen, C. Hung, Y. Kao, H. Liou. 

2393F Interpreting the impact of mutations in SCN1A 

in the context of the most severe phenotypes amongst 

the generalized epilepsies with febrile seizures plus. 

M. Gonsales, P. Preto, M. A. Montenegro, M. M. Guerreiro, 

I. Lopes-Cendes. 


POSTER SESSIONS


2394W Next-generation sequencing and mutation 

screening in patients with familial mesial temporal 

lobe epilepsy: Investigating the chromosome 18p11.31 

candidate locus. R. O. Santos, M. G. Borges, W. T. S. 

T. Ide, C. S. Rocha, R. Secolin, F. M. Artiguenave, C. L. 

Yasuda, A. C. Coan, M. E. Morita, F. Cendes, C. V. Maurer- 

Morelli, I. Lopes-Cendes. 

2395T Characterization of a GEFS� locus on 

6q16.3q22.31. P. Szafranski, G. Von Allmen, B. Graham, 

S. Fogarty, A. A. Wilfong, S.-H. L. Kang, J. A. Fereira, 

W. Bi, J. A. Rosenfeld, L. G. Shaffer, S. W. Cheung, 

P. Stankiewicz, S. R. Lalani. 

2396F Identifying disease genes in a large highly inbred 

consanguineous kindred from Turkey with idiopathic 

generalized epilepsy. F. N. Tuncer, S. A. Ugur Iseri, M. 

Calik, A. Iscan, G. Altiokka Uzun, U. Ozbek. 

2397W Haplotype sharing and linkage analyses of 

multigenerational families with multiple sclerosis 

identified two chromosomal regions at 12p12.3-q12 

and 16q21-q22.3. N. Matsunami, J. Stevens, L. Baird, B. 

Otterud, T. Varvil, T. Leppert, J. W. Rose, M. F. Leppert. 

2398T Homozygosity mapping and exome sequencing 

identifies a gene on 11q24.2 for non-syndromic 

autosomal recessive intellectual disability in a 

Pakistani family. M. A. Rafiq, I. A. Balouch, K. Mittal, A. 

Mikhailov, M. Ayub, P. John, J. B. Vincent. 

2399F Investigation of inherited copy number 

variations in extended Asperger syndrome families. 

M. Rossi, K. Rehnström, O. Pietiläinen, V. Leppä, T. 

Hiekkalinna, T. Nieminen-von Wendt, J. Barrett, I. Hovatta, 

S. Ripatti, A. Palotie. 

2400W Gene analysis of familial and sporadic 

amyotrophic lateral sclerosis in Kyushu island of 

Japan. H. Furuya, A. Watanabe, H. Arahata, Y. Kawano, N. 

Fujii, H. Kikuchi, T. Fujiwara, T. Hokonohara, A. Iwaki, H. 

Shibata, Y. Fukumaki. 

2401T Replication and generalization of genetic risk 

factors for depression, anxiety and panic attack in a 

population-based cohort with African, European and 

Mexican ancestries. J. N. Vega, K. Brown-Gentry, D. C. 

Crawford, T. A. Thornton-Wells. 

2402F Genome-wide genetic studies of two 

consanguineous Pakistani multiplex pedigrees with 

schizophrenia and bipolar disorder. L. Xiong, S. Zhou, 

M. Christian, S. Provost, G. Asselin, Q. Brohi, M. Denton, 

R. Joober, L. E. DeLisi, G. A. Rouleau. 

2403W A comprehensive genotype-phenotype study 

for CHRNA7 and CHRFAM7A in autism and intellectual 

disability. J. Ge, C. P. Schaaf, B. Zhang, A. L. Hall, 

M. Ali, S. Tinschert, U. Moog, A. Patel, P. Stankiewicz, 

A. L. Beaudet. 

2404T Genetic variant of AKT1 and AKTIP associated 

with risk for late-onset depression in a Brazilian 

population. P. Pereira, M. Romano-Silva, M. Bicalho, E. 

Moraes, L. Malloy-Diniz, R. Nicolato, G. Pimenta, M. Mello, 

I. Bozzi, D. Miranda. 

2405F Whole genome gene expression analysis of 

patients with 22q11 deletion syndrome and controls. 

K. K. Mantripragada, S. Chawner, M. B. van den Bree, 

R. G. Thomas, L. Bates, M. J. Owen, N. M. Wiliams. 

2406W Fine-mapping of a region of interest in an 

extended family with multiple cases of autism. N. H. 

Chapman, K. Ankeman, R. Bernier, A. Estes, J. Munson, 

Z. Brkanac, W. Raskind, H. Coon, E. M. Wijsman. 

2407T Investigation of GWAS findings in schizophrenia 

in a case control and a family sample from Indonesia. 

D. B. Wildenauer, W. Qin, M. D. B. Wildenauer, A. A. A. A. 

Kusumawhardani, B. Benyamin, S. G. Schwab, Indonesia 

Schizophrenia Genetics Consortium. 

2408F Association analysis of mitochondrial DNA 

with suicidal behavior in schizophrenia. V. De Luca, A. 

Hassan, N. Hettige, C. Borlido, G. Polsinelli. 

2409W Application of whole genome resequencing to 

identify the causative gene for an autosomal recessive 

oculopharyngodistal myopathy. M. Taira, H. Ishiura, Y. 

Ichikawa, B. Ahsan, Y. Fukuda, J. Mitsui, Y. Takahashi, K. 

Higasa, J. Yoshimura, I. Nishino, J. Shimizu, S. Murayama, 

E. Uyama, S. Morishita, J. Goto, S. Tsuji. 

2410T Glucocerebrosidase mutations and dementia 

with Lewy bodies. L. Clark, K. Mirzozoda, J. H. Lee, R. 

Mayeux, L. S. Honig. 

2411F Both ISRE and GAS interferon regulatory 

sequences found in chromosome 21 genes that 

are important in brain development and function. 

A. Jagadeesh, J. Nagappa, K. Sampson, H. North, L. 

Gutman, P. Lenferna de la Motte, M. Sellers, I. Dhanoya, 

D. Elyaman, J. Husni, L. E. Maroun. 

2412W Genome-wide SNP analysis in a large 

consanguineous Turkish family reveals diagnosis as 

Unverricht-Lundborg disease. U. Ozbek, S. A. Ugur Iseri, 

F. N. Tuncer, I. Karacan, O. Ozdemir, G. Altiokka Uzun, M. 

Calik, A. Iscan. 

2413T CRHR2 differentially modulates anxious 

temperament and plasma cortisol in a rhesus 

macaque model of childhood anxiety. G. L. Fawcett, 

M. Raveendran, J. A. Oler, A. S. Fox, S. E. Shelton, N. 

H. Kalin, J. M. Cheverud, D. M. Muzny, R. A. Gibbs, J. 

Rogers. 

2414F Deregulation of neuronal cytoskeleton dynamics 

and androgen receptor gene pathways converge 

to aberrant synapse modulation in autism. K. Griesi 

Oliveira, D. Y. Sunaga, L. A. Cruz, E. Vadasz, M. R. 

Passos-Bueno. 

2415W Calcium channel genes are associated with 

autism spectrum disorders. A. Lu, X. Dai, R. M. Cantor. 

2416T X-chromosomal dystonia parkinsonism 

syndrome: Disease-specific sequence change DSC3 

of TAF1/DYT3 multiple transcript system affects 

dopamine metabolism, vesicular transport, and 

synapse function. U. Mueller, D. Nolte, A. Hofmann, J. 

Schultze, T. Herzfeld. 


2417F Identification of microduplications of the ATRX 

gene in autism spectrum disorders. B. A. Oliveira, I. C. 

Conceição, C. Correia, P. Jorge, R. Santos, C. Café, J. 

Almeida, S. Mouga, F. Duque, G. Oliveira, A. M. Vicente. 

2418W Alanyl-tRNA synthetase mutation in dominant 

distal hereditary motor neuropathy and Charcot-Marie- 

Tooth disease. H. Takashima, A. Hashiguchi, J. Hu, Z. 

Zhao, Y. Higuchi, Y. Sakiyama, S. Tokunaga, Y. Okamoto, 

A. Yoshimura. 

2419T Association of interleukin 6 gene polymorphisms 

with genetic susceptibilities to spastic tetraplegia in 

males: A case-control study. Q. Xing, M. Chen, T. Li, S. 

Lin, D. Bi, D. Zhu, Q. Shang, C. Ma, Q. Li, L. He, C. Zhu. 

2420F ADCYAP1R1 genotype associates with posttraumatic 

stress symptoms in highly-traumatized 

African American females. L. M. Almli, K. B. Mercer, H. 

Feng, K. N. Conneely, B. Bradley, K. J. Ressler. 

2421W EFHC2 shows female-specific association with 

autism. K. M. Tsang, Y. Cheng, J. F. Quinn, L. A. Weiss. 

2422T Ataxia with oculomotor apraxia type 2 in the 

Canadian aboriginal population: Expanding the disease 

distribution. E. R. Dola, J. N. Hartley, F. A. Booth, A. A. 

Mhanni. 

2423F Lamin B1 is a novel regulator of myelin and 

mediates cell-autonomous neuropathology in a murine 

model of autosomal dominant leukodystrophy. M. Y. 

Heng, L. J. Ptacek, Y. H. Fu. 

2424W Weight loss and low serum glucose levels in 

Machado-Joseph disease/spinocerebellar ataxia type 

3. L. B. Jardim, G. N. Souza, A. D. Russo, T. L. Monte, R. 

M. Castilhos, A. F. S. Schuh, K. C. Donis, R. D’Ávila, T. C. 

Gheno, G. V. Furtado, D. O. G. Souza, M. L. Saraiva-Pereira, 

L. V. C. Portela, C. R. M. Rieder, J. Dubois, J. A. M. Saute. 

2425T Spinocerebellar ataxias with hypogonadism: 

Unraveling a rare group of neuroendocrinologic 

syndromes. C. Lourenco, C. Sobreira, V. Cintra, R. 

Giugliani, W. Marques, Jr. 

2426F A neuronal cellular model of 22q11.2 DS exhibits 

disruptions to the miRNA regulatory pathway and may 

increase the rate of schizophrenia in individuals with 

22q11.2 DS. W. Manley, M. R. Ababon, P. G. Matteson, 

J. H. Millonig, L. M. Brzustowicz. 

2427W Analysis of aging phenotypes from long-term 

expression of the progeria mutation in the brain. J. 

Baek, E. Schmidt, S. Rodriguez, C. Strandgren, B. Rozell, 

E. Mugnaini, M. Eriksson. 

2428T Neurodegeneration and associated phenotypes 

in adults with 22q11.2 deletion syndrome. N. J. Butcher, 

T.-R. Kiehl, E. Chow, E. Rogaeva, A. E. Lang, A. S. Bassett. 

2429F CXCR4 (chemokine receptor) expression analysis 

in chronic cuprizone mouse model of multiple sclerosis. 

G. Celikyapi, T. Avsar, G. Terzioglu, S. Uyar Bozkurt, G. 

Yanikkaya Demirel, A. Siva, T. Altug, E. Tahir Turanli. 


2430W Increased error-related brain activity in youth 

with obsessive-compulsive disorder and unaffected 

siblings. G. Hanna, M. Carrasco, S. Harbin, J. Nienhuis, 

K. Fitzgerald, W. Gehring. 

2431T Bipolarity in children with dyslexia. C. C. Mignot, 

F. X. Coude. 

2432F Sequential processing deficit as a cognitive 

endophenotype in a multigenerational family with a 

severe speech sound disorder. B. Peter, K. Chapman, 

W. Raskind. 

2433W Investigation of the role of serotonin and 

histamine pathways in the etiology of Tourette’s 

syndrome. N. Sun, G. A. Heiman, L. Deng, M. Sheldon, 

J. C. Moore, A. J. Toro-Ramos, R. P. Hart, Z. Pang, J. A. 

Tischfield. 

2434T Is DS22q11.2 distal a frequent etiology of 

mathematical learning disability? M. R. S. Carvalho, G. 

S. Vianna, L. F. S. Oliveira, B. C. Moreira, R. Sturzeneker, 

M. J. B. Aguiar, L. Leão, G. Paskulin, P. Zen, V. G. Haase. 

2435F DNA methylation alterations in first-episode 

schizophrenia patients: Comprehensive analysis using 

peripheral blood cells. M. Nishioka, M. Bundo, S. Koike, 

C. Kakiuchi, T. Araki, K. Kasai, K. Iwamoto. 

2436W Clinical and molecular genetic analysis in 

Ullrich congenital muscular dystrophy with dominant 

and recessive inheritance. B. Bozorgmehr, A. 

Kariminejad, S. Nafisi, U. Andoni, C. Gartioux, C. Ledevil, 

V. Allamand, P. Richard, M. Kariminejad. 

2437T Epigenomes landscaped by histone H3K9me3 

contribute to the pathology of Huntington’s disease. J. 

Shin, J. Lee, Y. Hwang, W. Lee, J. Wie, K. Kim, M. Lee, D. 

Hwang, R. Ratan, N. Kowall, I. So, J. Kim, H. Ryu. 

2438F Novel PRRT2 mutation in an African-American 

family with paroxysmal kinesigenic dyskinesia. M. S. 

LeDoux, J. Xiao, P. Hedera, A. Puschmann, D. Momč ilović , 

S. W. Wu. 

2439W Incomplete penetrance versus variable 

expressivity in del 16p11.2: analysis of cognitive 

performance and social functioning as quantitative 

rather than dichotomous traits. A. Moreno-De-Luca, S. 

M. Myers, T. D. Challman, D. W. Evans, R. P. Goin-Kochel, 

E. Hanson, R. Bernier, L. Green Snyder, J. E. Spiro, W. K. 

Chung, J. N. Constantino, D. H. Ledbetter. 

2440T How to best phenotype the broader autism 

phenotype in adults. T. Nishiyama, H. Kishino, K. Okada, 

S. Sakai, Y. Kamio, M. Suzuki, K. Adachi, S. Sumi, M. 

Kojima, S. Suzuki. 

2441F Executive dysfunction and bipolarity disorder in 

school-age children with academic impairment. F. X. 

Coude, C. C. Mignot. 


POSTER SESSIONS


2442W Identification of a dosage-sensitive brain 

development gene within the critical region of 1q 

deletion syndrome. E. A. Erickson, W. A. Gahl, C. 

Boerkoel. 

2443T Results of genome-wide analyses on 

neurodevelopmental phenotypes at four-year follow-up 

following cardiac surgery in infancy. D. S. K. Kim, I. B. 

S. Stanaway, R. R. Rajagopalan, G. W. Wernovsky, J. B. 

Bernbaum, C. B. S. Solot, N. B. Burnham, E. Z. Zackai, 

R. R. C. Clancy, S. C. N. Nicolson, M. G. Gerdes, D. A. 

Nickerson, H. H. Hakonarson, J. W. G. Gaynor, G. P. Jarvik. 

2444F BrainSpan Atlas of the developing human brain. 

S. Sunkin, A. Bernard, T. Chen, C. Dang, S. Ding, A. 

Ebbert, O. Evgrafov, B. Fischl, M. Gerstein, D. Geschwind, 

A. Harmanci, J. Hohmann, S. Horvath, T. Hyde, A. Jones, 

Y. Kawasawa, R. Kitchen, J. Kleinman, P. Levitt, M. Li, 

S. Mane, N. Parikshak, A. Sboner, E. Shen, K. Smith, D. 

Weinberger, M. Hawrylycz, J. Knowles, N. Sestan, E. Lein. 

2445W Knockdown of putative human autism genes, 

SHANK3 and SYNGAP1, produces common behavioral 

phenotypes in zebrafish. J. E. Dallman, R. Kozol, Q. Yan, 

H. N. Cukier, V. Mayo, A. J. Griswold, P. L. Whitehead, J. 

L. Haines, J. R. Gilbert, M. L. Cuccaro, E. R. Martin, M. A. 

Pericak-Vance. 

2446T Short tandem repeat: A versatile marker in 

diagnosis of genetic disorders. S. Muthuswamy, A. 

Kumar, S. Agarwal. 

2447F Genomic rearrangements in idiopathic cerebral 

palsy. R. Segel, H. Ben-Pazi, S. Zeligson, A. Fattal- 

Valevski, A. Aran, V. Gross, N. Shneebaum, D. Shmueli, D. 

Lev, L. Blumkin, S. Perlberg, E. Levy-Lahad. 

2448W Gain of function Na v 1.7 mutations in patients 

with small fiber neuropathy. M. M. Gerrits, C. G. Faber, 

J. G. J. Hoeijmakers, D. M. L. Merckx, H. J. M. Smeets, S. 

D. Dib-Haij, S. G. Waxman, I. S. J. Merkies. 

2449T A new screening test for Fragile X syndrome: 

Quantitative measurement of FMRP in dried blood 

spots. W. T. Brown, T. Adayev, R. Kascsak, R. Kascsak, C. 

Dobkin, S. Nolin, G. LaFauci. 

2450F Disease specific pathway analysis in multiple 

sclerosis. T. Avsar, M. Durasi, S. Saip, O. U. Sezerman, 

A. Siva, E. Tahir Turanli. 

2451W Diagnosing complex neurological disease 

by next-generation sequencing. K. Haugarvoll, S. 

Johansson, C. Tzoulis, B. I. Haukanes, C. Bredrup, H. 

Boman, P. M. Knappskog, L. A. Bindoff. 

2452T Elevations of pro-inflammatory cytokines/ 

chemokines in patients with Aicardi-Goutières 

syndrome. J. L. Schmidt, A. Takanohashi, M. Prust, K. F. 

Gold, J. Wang, H. Gordish-Dressman, G. Rice, H. Gornall, 

M. Bloom, Y. J. Crow, P. Lebon, K. Nagaraju, A. Vanderver. 

2453F Strategy for genotyping triplet repeats unstable 

sequences. S. Lindo_Samanamud, O. Ortega, M. 

Cornejo-Olivas, V. Marca, P. Mazzetti. 

2454W Cleavage and polyadenylation specificity factor 

1 regulates alternative splicing of interleukin 7 receptor 

exon 6. S. G. Gregory, I. Evsyukova, S. Bradrick, M. A. 

Garcia-Blanco. 

2455T Functional analysis of ASNS variant identified in 

progressive microcephaly and brain atrophy patients. 

Y. Hitomi, E. K. Ruzzo, D. L. Silver, Y. Anikster, D. B. 

Goldstein. 

2456F Impaired PPAR� function underlies 

mitochondrial demise and neurodegeneration 

in Huntington’s disease: Mechanistic basis and 

therapeutic implications. A. S. Dickey, V. V. Pineda, A. 

Buttgereit, M. M. Torres, T. Tsunemi, A. R. La Spada. 

2457W NHEJ1 deficiency causes abnormal 

development of the cerebral cortex. B. El Waly, E. 

Buhler, M. R. Haddad, F. Watrin, L. Villard. 

2458T KCTD13 is a major driver of mirrored 

neuroanatomical phenotypes associated with the 

16p11.2 copy number variant. C. Golzio, J. Willer, M. 

E. Talkowski, E. C. Oh, Y. Taniguchi, S. Jacquemont, A. 

Reymond, M. Sun, A. Sawa, J. S. Gusella, A. Kamiya, J. S. 

Beckmann, N. Katsanis. 

2459F miR-137 expression in schizophrenia and bipolar 

disorder brains. I. Guella, A. Sequeira, B. Rollins, F. Torri, 

M. P. Vawter, F. Macciardi. 

2460W Common gene co-expression network analysis 

in schizophrenia and bipolar disorder. S. Hong, X. Chen, 

L. Jin, M. Xiong. 

2461T Delusion-associated SNPs in NRG3 show 

regulatory potential, dysregulate NRG3 splicing and 

differentially bind to nuclear proteins. M. Zeledón, 

M. Taub, N. Eckart, R. Wang, M. Szymanski, P. Chen, 

A. Pulver, J. A. McGrath, P. Wolyniec, D. Avramopoulos, 

A. Sawa, D. Valle. 

2462F USF1 regulates sleep and circadian traits in 

humans. H. M. Ollila, K. M. Rytkönen, K. Silander, 

M. Perola, V. Salomaa, M. Härmä, S. Puttonen, 

T. Porkka-Heiskanen, T. Paunio. 

2463W Sodium channel mutations and epilepsy. 

J. E. O’Brien, M. H. Meisler. 

2464T Phosphorylation and regulation of FMRP. 

M. Santoro, S. Warren. 

2465F The cis-regulatory effect of an Alzheimer’s 

disease-associated polymorphic poly-T locus on 

expression of TOMM40 and APOE genes. O. Chiba- 

Falek, C. Linnertz, W. Gottschalk, D. Crenshaw, M. Lutz, 

J. Allen, S. Saith, M. Mihovilovic, L. Anderson, K. Welsh- 

Bohmer, A. Roses. 

2466W Apolipoprotein E �4 as a factor in the evaluation 

of the genetic risk of Alzheimer’s dementia in Filipinos. 

M. Daroy, C. Casingal, C. Mapua, D. Florendo, R. Matias, 

J. Dominguez, St. Luke’s Dementia Study Group. 


2467T Functional testing of schizophrenia associated 

variants in NOS1AP. C. T. Ramirez, N. Wratten, Y. Huang, 

A. Dulencin, J. Millonig, V. J. Vieland, A. S. Bassett, L. M. 

Brzustowicz. 

2468F MIR137, a candidate gene for schizophrenia: 

identification of targets and downstream effects. 

A. L. Collins, R. J. Bloom, Y. Kim, P. F. Sullivan. 

2469W Schizophrenia mir137 risk genotype is 

associated with DLPFC hyperactivation. T. G. M. van 

Erp, I. Guella, M. P. Vawter, F. Torri, J. Fallon, F. Macciardi, 

S. G. Potkin. 

2470T A loss-of-function variant in the human histidyltRNA 

synthetase (HARS) gene is neurotoxic in vivo. A. 

Antonellis, A. Vester, G. Velez-Ruiz, H. M. McLaughlin, J. 

R. Lupski, K. Talbot, J. M. Vance, S. Zuchner, R. H. Roda, 

K. H. Fischbeck, L. G. Biesecker, G. Nicholson, A. A. Beg, 

NISC Comparative Sequencing Program, NIH. 

2471F Neuronal expression of FIG4 and 

neurodegeneration. G. M. Lenk, C. J. Ferguson, 

M. H. Meisler. 

2472W Global mapping of FUS-binding sites and global 

profiling of FUS-mediated RNA metabolisms in the 

mouse brain. K. Ohno, A. Masuda, S. Ishigaki, Y. Fujioka, 

Y. Iguchi, M. Katsuno, A. Shibata, F. Urano, G. Sobue. 

2473T Sortilin-related receptor 1 is associated with 

cognitive impairment in Filipinos. C. R. Casingal, M. L. 

G. Daroy, C. A. Mapua, D. J. A. Florendo, J. C. Dominguez, 

St. Luke’s Dementia Study Group. 

2474F Identifying neuropsychological and cognitive 

endophenotypes of schizophrenia-associated 

exonic variants of NPAS3 and COMT. L. M. Luoma, 

G. Macintyre, F. B. Berry, D. LaFreniere, S. Purser, A. 

Beierbach, P. Tibbo, D. W. Cox, S. Purdon. 

2475W Production of IL-6 is altered in primary human 

macrophages carrying 255Adel PARK2 gene variation. R. 

H. M. Sindeaux, A. C. Senegaglia, R. P. Munhoz, H. A. Teive, 

S. Raskin, M. M. A. Stefani, M. T. Mira, V. S. Sotomaior. 

2476T Broadening the role of FMRP targets across 

autism spectrum disorders. J. Steinberg, C. Webber. 

2477F Expanded hexanucleotide GGGGCC repeat 

RNA associated with ALS/FTD is sufficient to cause 

neurodegeneration. Z. Xu, M. Poidevin, H. Li, T. Wingo, 

P. Jin. 

2478W An integrated and systematic approach to 

autism pathway analysis. Z. Lin, S. J. Sanders, J. K. 

Lowe, D. H. Geschwind, M. State, H. Zhao. 

2479T RNA sequencing in iPSC-derived neurons 

identifies gene expression changes associated with 

22q11.2 microdeletion syndrome. Y. Tian, S. Pasca, J. 

Ou, A. Krawisz, J. BernsteinJon, J. Rapoport, J. Hallmayer, 

S. Horvath, M. Pellegrini, R. Dolmetsch, D. Geschwind, 

ACE Genetics Consortium. 


2480F The effects of inherited deletions on 

neurocognition in Canadian children with 22q11.2 

deletion syndrome. E. Chow, A. Ho, D. Young, S. 

Langlois, C. Cytrabaum, A. Rideout, S. Dyack. 

2481W Brain-derived neurotrophic factor (BDNF) 

Val66Met and adulthood chronic stress interact to 

affect depressive symptoms. R. Jiang, B. H. Brummett, 

M. A. Babyak, I. C. Siegler, R. B. Williams. 

2482T miRNA expression in the prefrontal cortex of 

suicide completers. J. P. Lopez, R. Lim, B. Labonte, C. 

Cruceanu, J. P. Yang, V. Yerko, C. Ernst, N. Mechawar, P. 

Pavlidis, G. Turecki. 

2483F Distinct gene expression and DNA methylation 

perturbations in PTSD with severe child abuse versus 

no PTSD with no child abuse. D. Mehta, T. Klengel, K. 

N. Conneely, A. K. Smith, A. Altmann, M. Rex-Haffner, A. 

Loeschner, M. Gonik, K. B. Mercer, B. Bradley, B. Müller- 

Myshok, K. J. Ressler, E. B. Binder. 

2484W Frequency of polymorphisms of the alcohol 

dehydrogenase enzyme (ADH1B and ADH1C) and 

aldehyde dehydrogenase enzyme (ALDH) in the 

Brazilian population. G. P. M. Antonialli, B. Coprerski, R. 

M. Minillo, M. P. Migliavacca, D. Brunoni, A. B. A. Perez. 

2485T Serotonin transporter (SLC6A4) and receptor 

(5-HT2A) gene polymorphisms in healthy Brazilian 

individuals with diverse ethnic backgrounds. B. 

Coprerski, M. P. Micliavacca, A. B. A. Perez, A. P. P. Costa, 

D. Brunoni. 

2486F Regulatory effects of genes associated with 

schizophrenia. N. Eckart, R. Wang, J. McGrath, P. 

Wolyniec, M. Zeledòn, M. Szymanski, A. Pulver, D. Valle, 

D. Avramopoulos. 

2487W Genome-wide association study of 32,143 

individuals reveals several novel associations in 

schizophrenia. C. O’Dushlaine, S. Ripke, J. Moran, K. 

Chambert, P. Sklar, S. Purcell, C. Hultman, S. McCarroll, 

P. Sullivan, Swedish Schizophrenia Consortium. 

2488T Genome-wide association study reveals genes 

influencing the rate of cognitive decline among 

persons with Alzheimer’s disease are distinct from 

those associated with disease risk. R. Sherva, Y. 

Tripodis, D. Bennett, L. A. Chibnik, P. K. Crane, P. De 

Jager, L. B. Farrer, J. Shulman, R. C. Green. 

2489F Genome-wide scan for copy number variation 

association with age at onset of Alzheimer’s disease. 

K. Szigeti, D. Lal, Y. Li, R. Doody, K. Wilhelmsen, L. 

Yan, S. Liu, C. Ma, Texas Alzheimer Research and Care 

Consortium. 

2490W Utilizing eQTL networks to identify genes 

relevant to autism in the 16p11.2 region. Y. Cheng, 

W. Lauren. 


POSTER SESSIONS


2491T A genomic instability model of autism: Global 

copy number burden associated with autism. N. Katiyar, 

S. Girirajan, A. Srikanth, K. H. Yeoh, S. J. Khoo, 

F. Tassone, R. Hansen, I. Hertz-Picciotto, E. E. Eichler, 

I. N. Pessah, S. B. Selleck, M. D. Ritchie. 

2492F The impact of glutamate and gammaaminobutyric 

acid receptor signaling in non-syndromic 

autism. A. Mohamed-Hadley, D. Hadley, Z. Wu, C. Kao, 

A. Kini, J. Glessner, R. Pellegrino, C. Kim, K. Thomas, H. 

Hakonarson, AGP Consortium. 

2493W Chromosome 15q11.2 is associated with 

schizophrenia risk in a set of patients. D. Rudd, M. 

Axelsen, S. Casey, S. Mugge, N. Andreasen, T. Wassink. 

2494T Genome-wide copy number analysis on 

schizophrenia in Han Chinese. E. Wong, A. W. Butler, 

Q. Wang, S. S. Cherny, T. Li, P. C. Sham. 

2495F Rare copy number variants in schizophrenia 

and bipolar disorder in a Latino population. C. Xu, A. N. 

Blackburn, S. Gonzalez, E. C. Villa, M. Ramirez, J. Zavala, 

M. Rodriguez, C. Camarillo, J. Ordonez, R. Armas, S. A. 

Contreras, R. J. Leach, D. Flores, D. Jerez, A. Ontiveros, 

H. Nicolini, D. Lehman, M. Escamilla. 

2496W Genome-wide copy number variation analysis 

of narcolepsy in the Japanese population. M. Yamasaki, 

T. Miyagawa, H. Toyoda, K. Seik Soon, A. Koike, T. Sasaki, 

Y. Honda, M. Honda, K. Tokunaga. 

2497T Integrating GWAS and protein-protein 

interaction network identifies a subnetwork implicated 

in alcohol dependence. S. Han, B. Z. Yang, H. Kranzler, 

F. Lindsay, H. Zhao, J. Gelernter. 

2498F APP associated with late-onset Alzheimer 

disease in autopsy-confirmed dataset. T. Montine, G. W. 

Beecham, R. Rajbhandary, K. L. Hamilton, A. C. Naj, E. R. 

Martin, R. Mayeux, J. L. Haines, L. Farrer, G. Schellenberg, 

M. A. Pericak-Vance, Alzheimer’s Disease Genetics 

Consortium. 

2499W An association study comparing children with 

extreme high and extreme low obsessive-compulsive 

traits in the general population. P. D. Arnold, V. Sinopoli, 

J. Crosbie, L. Park, A. Dupuis, A. Paterson, R. J. Schachar. 

2500T Irish high-density schizophrenia families are 

enriched for common polygenic effects. T. B. Bigdeli, 

S. A. Bacanu, B. T. Webb, B. S. Maher, D. L. Thiselton, B. 

Wormley, F. A. O’Neill, D. Walsh, A. H. Fanous, B. P. Riley, 

K. S. Kendler. 

2501F Genome-wide association study for maternal 

effects in autism. S. Buyske, E. S. Stenroos, W. G. 

Johnson. 

2502W Analysis of putative pathogenic CNVs in autistic 

patients of Portuguese origin. I. C. Conceição, B. A. 

Oliveira, C. Correia, J. Coelho, C. Café, J. Almeida, S. 

Mouga, F. Duque, G. Oliveira, A. M. Vicente. 

2503T GWAS identifies biologically relevant SNP 

associations with sexual partnering behavior. J. 

Gelernter, H. R. Kranzler, R. Sherva, R. Koesterer, L. 

Almasy, H. Zhao, L. A. Farrer. 

2504F A genome-wide association study of alcohol 

dependence using a hybrid design. L. M. Hack, A. 

E. Adkins, B. T. Webb, B. S. Maher, D. G. Patterson, D. 

Walsh, C. A. Prescott, D. M. Dick, K. S. Kendler, B. P. Riley. 

2505W Genetic analysis of tobacco use in the Swedish 

Twin Registry: Genome-wide association studies of 

cigarette and snus consumption. P. A. Lind, D. Cesarini, 

D. J. Benjamin, P. D. Koellinger, P. K. E. Magnusson, M. 

Johannesson, S. E. Medland. 

2506T Genome-wide association study for intracranial 

aneurysm in the Japanese population. S. Low, A. 

Takahashi, M. Kubo, Y. Nakamura. 

2507F Genome-wide association study identified 

susceptibility loci associated with nicotine dependence 

in a Japanese population. D. Nishizawa, K. Shinya, J. 

Hasegawa, N. Sato, F. Tanioka, H. Sugimura, K. Ikeda. 

2508W Genome-wide meta-analysis of autism 

spectrum disorders (ASD) supports A2BP1 as an ASD 

candidate gene. Y. S. Park, J. Jaworski, I. Konidari, P. 

Whitehead, M. L. Cuccaro, E. R. Martin, J. L. Haines, M. A. 


2509T A polygenic analysis of autism, depression 

and schizophrenia risk alleles’ effect on reproductive 

fitness in the general population. R. A. Power, R. Uher, 

S. Ripke, C. M. Lewis, P. McGuffin, P. Lichtenstein, H. 

Wallum. 

2510F Maternal genetic effects on autism risk: Results 

from the Early Markers for Autism study. J. F. Quinn, 

L. C. Croen, L. W. Weiss. 

2511W Genome-wide pathway analysis in multiple 

cohorts implicates histone genes and inflammation 

in hippocampal atrophy. V. K. Ramanan, L. Shen, J. D. 

West, S. Kim, S. L. Risacher, K. Nho, Y. Wang, J. Wan, T. 

M. Foroud, L. A. Farrer, A. J. Saykin, Alzheimer’s Disease 

Neuroimaging Initiative. 

2512T Dissection of genetic architecture of bipolar 

disorder and schizophrenia: Results from a combined 

dataset of nearly 40,000 individuals. S. Ripke, D. M. 

Ruderfer, Psychiatric Genomics Consortium. 

2513F The Kaiser Permanente/UCSF Genetic 


Aging: Genome-wide association study of anxiety 

disorders. L. Shen, T. Hoffmann, M. Kvale, L. Sakoda, D. 

Ranatunga, L. Walter, S. Sciortino, D. Ludwig, Y. Banda, S. 

Hesselson, P. Kwok, R. Risch, C. Schaefer. 

2514W Genome-wide association of structural 

MRI data in a large, normally developing, pediatric 

population. P. M. A. Sleiman, T. Satterthwaite, K. Ruparel, 

C. Kim, R. Chiavacci, M. E. Calkins, R. C. Gur, R. E. Gur, 

H. Hakonarson. 


2515T Gene-based analyses of attention deficit 

hyperactivity disorder GWAS data. I. D. Waldman, S. 

V. Faraone, Psychiatric Genomics Consortium: ADHD 

Subgroup. 

2516F Genome-wide association study of bipolar 

disorder with a history of binge eating. S. J. Winham, 

S. McElroy, S. Crow, M. Frye, C. Colby, D. Walker, D.-S. 

Choi, M. Chauhan, J. M. Biernacka. 

2517W Variation in genes related to cochlear biology 

is strongly associated with adult-onset deafness in 

Border Collies. J. S. Yokoyama, E. T. Lam, A. L. Ruhe, C. 

A. Erdman, K. R. Robertson, A. A. Webb, D. C. Williams, 

M. L. Chang, M. K. Hytonen, H. Lohi, S. P. Hamilton, M. 

W. Neff. 

2518T Genome-wide association study of Korean 

patients with autism spectrum disorder. H. Yoo, S. Kim, 

M. Park, I. Cho, S. Cho, B. Kim, J. Kim, S. Park, D. H. 

Geschwind, Y. Kwak, J. K. Lowe, Korean Autism Genetic 

Study Consortium. 

2519F Combined genome-wide association study of 

Tourette syndrome and obsessive-compulsive disorder. 

D. Yu, TSAICG, IOCFGC, TS GWAS Consortium. 

2520W Genome-wide significant evidence of 

association of a NUP153 missense variant with familial 

late-onset Alzheimer’s disease. A. R. Parrado, B. Hooli, 

K. Mullin, L. Gotta, M. Mattheisen, C. Lange, L. Bertram, 

R. E. Tanzi. 

2521T Beta-amyloid toxicity modifier genes and the 

risk of Alzheimer’s disease. S. L. Rosenthal, X. Wang, 

M. M. Barmada, F. Y. Demirci, O. L. Lopez, M. I. Kamboh. 

2522F WTCCC3 and GCAN: A genome-wide 

association scan of anorexia nervosa. V. Boraska, C. 

M. Bulik, D. A. Collier, P. F. Sullivan, E. Zeggini, Genetic 

Consortium for Anorexia Nervosa, Wellcome Trust Case 

Control Consortium 3. 

2523W Novel approach to genome wide association 

meta-analysis for bipolar disorder reveals network of 

calcium channel and calcium signaling genes including 

epistatic effects. V. J. Vieland, K. A. Walters, K. Tobin, M. 

A. Azaro, A. Hare, Y. Huang, S.-C. Seok, T. Lehner, L. M. 

Brzustowicz. 

2524T Constructing a prediction model for bipolar 

disorder using genome-wide association dataset. 

L. Chuang, C. Kao, P. Kuo. 

2525F Involvement of the PTCHD1 gene in autism and 

intellectual disability. K. Mittal, K. Sritharan, J. Ross, 

A. Vaags, S. Scherer, A. Noor, J. Ellis, J. Vincent. 

2526W Genetic schizophrenia risk variants jointly 

modulate total brain and white matter volume. A. F. 

Terwisscha van Scheltinga, S. C. Bakker, N. E. M. van 

Haren, E. M. Derks, J. E. Buizer-Voskamp, H. B. M. Boos, 

W. Cahn, H. E. Hulshoff Pol, S. Ripke, R. A. Ophoff, R. S. 

Kahn, Psychiatric GWAS Consortium. 


2527T PET scans with [ 11 C]Flumazenil demonstrate 

a downregulation of the GABA A receptor availability 

in fragile X syndrome patients. F. Kooy, I. Heulens, C. 

D’Hulst, N. Van der Aa, K. Van Laere. 

2528F �-Catenin is genetically and biologically 

associated with cortical cataract and future Alzheimerrelated 

structural and functional brain changes. G. Jun, 

J. A. Moncaster, C. Koutras, S. Seshadri, J. Buros, A. C. 

McKee, G. Levesque, P. A. Wolf, P. St. George-Hyslop, L. 

E. Goldstein, L. A. Farrer. 

2529W Genes, brain and cognition in Down syndrome. 

J. R. Korenberg, L. Dai, S. Gouttard, J. Edgin, L. Nadel, 

E. K. Jeong, J. Anderson, G. Gerig. 

2530T The non-invasive quantification of muscle 

degeneration in facioscapulohumeral muscular 

dystrophy with fast bound-pool fraction imaging: 

A 3.0T MRI study. H. R. Underhill, S. D. Friedman, 

V. L. Yarnykh, D. W. W. Shaw. 

2531F Neural cell adhesion gene variation and brain 

morphometry in Alzheimer’s disease. K. N. Holohan, 

S. L. Risacher, S. Swaminathan, J. D. West, M. Inlow, S. 

K. Conroy, V. Ramanan, T. Foroud, L. Shen, A. J. Saykin, 

Alzheimer’s Disease Neuroimaging Initiative. 

2532W Genetic interactions in focal adhesion and 

extracellular matrix pathways are associated with 

increase in ventricle size over time in the Alzheimer’s 

Disease Neuroimaging Initiative cohort. M. Koran, S. 

Meda, M. Sivley, T. Thornton-Wells. 

2533T Gene expression of GABA receptors and 

regulators in peripheral blood of a drug naïve firstepisode 

psychosis sample. V. K. Ota, C. S. Noto, A. 

Gadelha, M. L. Santoro, J. J. Mari, M. I. Melaragno, M. A. 

C. Smith, Q. Cordeiro, R. A. Bressan, S. I. Belangero. 

2534F Effect of DRD1 rs4532 polymorphism on 

treatment-resistant schizophrenia. L. .M. N. Spindola, V. 

K. Ota, A. Gadelha, A. F. Santos Filho, M. L. Santoro, D. M. 

Christofolini, F. T. S. Bellucco, J. J. Mari, M. I. Melaragno, 

M. A. C. Smith, R. A. Bressan, S. I. Belangero. 

2535W Genetic risk factors (CHRNA5-CHRNA3-CHRNB4) 

and smoking cessation among hospitalized patients 

with acute myocardial infarction. L.-S. Chen, P. A. Lenzini, 

R. G. Bach, J. A. Spertus, L. J. Bierut, S. Cresci. 

2536T STXBP1 and KCNQ2 are mutated in the majority 

of patients having Ohtahara syndrome that does not 

evolve into West syndrome. M. Milh, C. Lacoste, J. 

Sutera-Sardo, S. Auvin, M.-A. Barthez, A. Kaminska, A. 

Roubertie, D. Ville, C. Badens, B. Chabrol, L. Villard. 

2537F Identification of LRRK2 p.G2019S disease 

modifiers. J. Trinh, D. Evans, C. Thompson, A. Donald, B. 

Shah, C. Szu Tu, F. Pishotta, C. Vilarino-Guell, R. Amouri, 

F. Hentati, R. Gibson, M. Farrer. 


POSTER SESSIONS


2538W APOE and SNCA predict cognitive performance 

in Parkinson’s disease. I. Mata, J. Leverenz, J. 

Trojanowski, A. Siderowf, B. Ritz, S. Rhodes, S. Factor, C. 

Wood-Siverio, J. Quinn, K. Chung, A. Espay, F. Revilla, K. 

Edwards, T. Montine, C. Zabetian. 

2539T Abnormal responses to visual cortex activation in 

early stage Huntington disease patients using 31P-NMR 

spectroscopy. F. Mochel, T. M. Nguyen, D. Deelchand, D. 

Rinaldi, R. Valabregue, C. Wary, A. Durr, P. G. Henry. 

2540F Sympathovagal balance in major depressive 

disorder: Influence of the BDNF and 5-HTTLPR 

(serotonin transporter) polymorphisms. A. Perez, 

A. R. Brunoni, B. Coprerski, D. Brunoni. 

2541W Complex genetic scores can predict smoking 

cessation success and uptake of addictive substance 

use. G. Uhl, D. Sisto, D. Walther, W. Eaton, N. Ialongo, J. 

Rose. 

2542T Integrated copy number and gene expression 

analysis detects a CREB1 association with Alzheimer’s 

disease. N. Sule, Y. Li, I. Sheffer, C. Shaw, S. Powell, 

B. Dawson, S. Zaidi, K. Bucasas, J. Lupski, K. Wilhelmsen, 

R. Doody, K. Szigeti. 

2543F Genetic modifiers of EEG brain activity during 

sleep in humans. S. Warby, H. E. Moore IV, O. Carrillo, 

J. Faraco, L. Lin, P. E. Peppard, T. Young, E. Mignot. 

2544W The eQTLs in language-related genes reveal a 

gene x gene interaction between BDNF and PCDH17 

in the human brain. N. Li, S. Y. Cheong, M. Goode, S. A. 

Petrill, A. S. Bassett, L. M. Brzustowicz, C. W. Bartlett. 

2545T The KIAA0319 gene is associated with language 

progression more than its level. S. Tezenas du Montcel, 

B. Feng, C. Barr, B. Falissard, M. Boivin, G. Dionne. 

2546F Genome-wide association of executive function 

in a normally developing pediatric cohort. J. J. 

Connolly, P. M. A. Sleiman, R. C. Gur, M. E. Calkins, D. J. 

Abrams, R. M. Chiavacci, H. Qiu, F. D. Mentch, R. E. Gur, 

H. Hakonarson. 

2547W Lipidomic profiling in Lewy body disease brain 

autopsies carrying lysosomal storage disorder gene 

variants. N. Parmalee, R. B. Chan, N. Park, E. P. Cortes, 

J. P. Vonsattel, K. Marder, L. Honig, J. H. Lee, G. Di Paolo, 

L. Clark. 

2548T Study of plasma metabolites levels in discordant 

sibling pairs with autism. G. Malerba, R. Wang-Sattler, 

E. Trabetti, J. Adamski, P. Prandini, L. Xumerle, C. Zusi, A. 

Pasquali, R. Galavotti, P. F. Pignatti, T. Illig, Italian Autism 

Network. 

2549F Genome scan for cognitive trait loci of dyslexia: 

Rapid naming and rapid switching of colors, letters 

and numbers. W. H. Raskind, K. Rubenstein, M. 

Matsushita, V. W. Berninger, E. M. Wijsman. 

2550W Identification of genes and pathways regulated 

by epigenetic mechanisms in determining general 

intelligence (g) of inbred mice. P. Cha, K. Kobayashi, Y. 

Ando, C. Yu, S. Yamagata, K. Okada, J. Sese, K. Takao, T. 

Miyakawa, T. Toda. 

2551T Quantitative linkage analysis with the 

endophenotype of social responsiveness identifies 

genome-wide significant linkage to a narrow region at 

8p21.3. J. K. Lowe, D. M. Werling, J. N. Constantino, R. M. 

Cantor, D. H. Geschwind. 

2552F Nonpathogenic traits: A study of susceptibility 

to sympathetic yawning. E. T. Cirulli, A. J. Bartholomew, 

D. B. Goldstein. 

2553W Combined genetic analysis of DNA methylation 

and gene expression in schizophrenia identifies 

disease susceptibility loci. K. R. van Eijk, M. P. M. Boks, 

S. de Jong, E. Strengman, R. S. Kahn, S. Horvath, R. A. 

Ophoff. 

2554T Infantile-onset dystonia and juvenile 

parkinsonism associated with spastic paraplegia 

caused by mutations in SPG11. G. Yoon, B. Baskin, M. 

Tarnopolsky, P. Rebeiro, B. Banwell, P. N. Ray. 

2555F CNV detection from affymetrix axiom SNP chips 

in the early markers for autism study. G. Desachy, L. A. 

Croen, L. A. Weiss. 

2556W Prioritization of whole exome sequencing in 

Parkinson disease. J. Farlow, H. Lin, K. Hetrick, H. Ling, 

E. Pugh, K. Bowling, P. Jain, Y. Liu, K. Doheny, R. M. 

Myers, T. Foroud. 

2557T High yield of massively parallel sequencing 

in autosomal recessive intellectual disability in 23 

families: Identification of the causative mutation in 

12 families. R. Abou Jamra, R. Buchert, S. Uebe, H. 

Tawamie, S. H. Eck, E. Graf, K. Eberlein, J. Bauer, E. M. 

Dill, C. Blumentritt, F. F. Brockschmidt, M. M. Nöthen, J. 

Schumacher, A. Ekici, T. Strom, A. Reis. 

2558F Identification of rare variants in childhood 

onset schizophrenia using exome sequencing. A. 

Ambalavanan, S. L. Girard, J. Gauthier, L. Xiong, A. 

Dionne-Laporte, D. Spiegelman, E. Henrion, O. Diallo, A. 

Levert, P. A. Dion, J. Rapoport, R. Joober, G. A. Rouleau. 

2559W The Asp620Asn mutation of VPS35 in Japanese 

patients with typical Parkinson disease. M. Ando, M. 

Funayama, Y. Li, K. Kashihara, Y. Murakami, N. Ishizu, C. 

Toyoda, K. Noguchi, T. Hashimoto, N. Nakano, R. Sasaki, 

Y. Kokubo, S. Kuzuhara, K. Ogaki, C. Yamashita, H. 

Yoshino, H. Tomiyama, N. Hattori. 

2560T The Autism Sequencing Consortium: Autism 

gene discovery in .20,000 exomes. J. D. Buxbaum, M. 

J. Daly, B. Devlin, T. Lehner, K. Roeder, M. W. State for 



2561F Host genetic contribution to development 

of progressive multifocal leukoencephalopathy in 

the presence of immune suppression or immunemodulating 

drugs. J. P. Carulli, C. Sun, S. Szak, C. Organ, 

A. G. Day-Williams, C. Liu, H. H. Ackerman, T. Olsson, 

F. Piehl, P. Cinque, C. S. Tan, I. J. Koralnik, R. P. Viscidi, 

L. Gorelik, K. Simon, P. Duda, T. Harris, S. Bushnell, 

T. Compton. 

2562W Disruption of a large intergenic non-coding 

RNA in subjects with neurodevelopmental disabilities. 

C. Ernst, M. Talkowski, J. Gusella, C. Morton. 

2563T A rare haplotype containing two AKAP9 

missense mutations identified by whole-exome 

sequencing is associated with risk of Alzheimer 

disease in African Americans. M. W. Logue, M. Schu, 

B. N. Vardarajan, J. Farrell, C. T. Baldwin, M. D. Fallin, L. 

A. Farrer. 

2564F Transposable elements in schizophrenia: 

evolutionary analysis and hypothesis for a functional 

role. F. Macciardi, M. Vawter, T. VanErp, F. Torri, B. Lerer, 

E. Osimo, J. A. Knowles, S. G. Potkin, C. Pato, M. Pato, 

S. Gaudi. 

2565W Whole-genome sequencing of 50 LRRK2 G2019S 

carriers discordant for Parkinson’s disease. C. Y. 

McLean, E. Drabant, E. Harrington, C. B. Do, N. Eriksson. 

2566T Cumulative mutation load in PDZ domains 4, 

5, and 6 of glutamate receptor interacting protein 2 in 

autism. T. Niranjan, A. Adamczyk, M. Han, R. Mejias, R. 

Rose, H. Bravo, M. Taub, C. Schwartz, D. Valle, R. Huganir, 

T. Wang. 

2567F Candidate genes for sleepwalking from exome 

sequencing in an autosomal-dominant family. B. 

Schormair, H. Slawik, B. Frauscher, T. Mitterling, E. Graf, T. 

Wieland, B. Högl, T. M. Strom, M. Wiegand, T. Meitinger, J. 

Winkelmann. 

2568W Rare variants in GWAS loci of restless legs 

syndrome. E. C. Schulte, F. Knauf, B. Schormair, P. 

Lichtner, C. Trenkwalder, B. Högl, B. Frauscher, K. Berger, 

I. Fietze, N. Gross, K. Stiasny-Kolster, M. Hornyak, W. 

Oertel, C. G. Bachmann, W. Paulus, A. Zimprich, A. Peters, 

C. Gieger, B. Müller-Myshok, T. Meitinger, J. Winkelmann. 

2569T Exome analysis for early-onset amyotrophic 

lateral sclerosis with autosomal recessive mode of 

inheritance. Y. Takahashi, K. Higasa, S. Takagi, T. Kurita, 

H. Ishiura, J. Mitsui, Y. Fukuda, J. Yoshimura, T. L. Saito, 

S. Morishita, J. Goto, S. Tsuji. 

2570F Identification of candidate genes through 

analysis of copy number variation in autism families 

from Austria. J. B. Vincent, G. Egger, A. Lionel, 

H. Mahmood, A. Mikhailov, K. Roetzer, C. Windpassinger, 

W. Kaschnitz, S. W. Scherer, E. Petek. 

2571W Genetic and functional study of the disks largeassociated 

protein 2 (DLGAP2) gene as a candidate 

gene of schizophrenia. M. Cheng, J. Li, S. Luu, S. Hsu, 

T. Hu, H. Tsai, C. Chen. 


2572T Targeted sequencing reveals association of sets 

of rare variants in novel candidate genes as well as cell 

adhesion and GTPase regulatory pathways with autism 

spectrum disorder. A. J. Griswold, J. M. Jaworski, S. H. 

Slifer, D. J. Hedges, R. H. Chung, W. F. Hulme, I. Konidari, 

P. L. Whitehead, J. A. Rantus, A. R. Diaz, Y. M. Pasco, R. 

M. Tursi, S. M. Williams, R. Menon, M. L. Cuccaro, E. R. 

Martin, J. L. Haines, J. R. Gilbert, J. P. Hussman, M. A. 


2573F Multiple hits in the neuregulin signaling pathway 

in schizophrenia. A. Hatzimanolis, J. McGrath, P. 

Wolyniec, V. K. Lasseter, G. Nestadt, R. Wang, T. Li, P. 

Wong, D. Valle, A. E. Pulver, D. Avramopoulos. 

2574W Discovery of rare variants of candidate 

genes related to nicotine dependence through deep 

sequencing. S. Wang, W.-Y. Cui, Z. Yang, J. Yang, J. Z. 

Ma, T. J. Payne, C. A. Hodgkinson, D. Goldman, M. D. Li. 

2575T Rare deletions at the gephyrin (GPHN) locus 

in autism spectrum disorder and schizophrenia. A. 

C. Lionel, A. K. Vaags, D. Sato, M. J. Gazzellone, H. Y. 

Chen, G. Costain, G. Egger, S. Walker, A. Prasad, C. R. 

Marshall, E. B. Mitchell, C. Windpassinger, J. B. Vincent, 

B. A. Fernandez, S. Kirmani, J. C. Hodge, A. S. Bassett, S. 

W. Scherer. 

2576F Reciprocal duplication of the Williams-Beuren 

syndrome deletion on chromosome 7q11.23 is 

associated with schizophrenia. J. G. Mulle, A. E. Pulver, 

J. M. McGrath, P. Wolyniec, A. F. Dodd, D. J. Cutler, J. 

Sebat, D. Malhotra, G. Nestadt, D. F. Conrad, C. P. Barnes, 

M. Hurles, M. Ikeda, N. Iwata, D. Levinson, P. V. Gejman, 

A. R. Sanders, J. Duan, A. A. Mitchell, I. Peter, P. Sklar, C. 

T. O’Dushlaine, D. Grozeva, M. C. O’Donovan, M. J. Owen, 

C. M. Hultman, A. K. Kähler, P. F. Sullivan, G. Kirov, S. T. 

Warren, Molecular Genetics of Schizophrenia Consortium. 

2577W Assessing the impact of different types of de 

novo rare variation in whole-exome sequenced autism 

spectrum disorders trio families. D. Pinto, M. Fromer, 

A. Goldberg, S. M. Purcell, P. Sklar, E. Boerwinkle, M. J. 

Daly, B. Devlin, E. H. Cook, K. Roeder, R. A. Gibbs, G. D. 

Schellenberg, J. S. Sutcliffe, M. W. State, J. D. Buxbaum 

on behalf of ARRA Autism Sequencing Consortium and 


2578T Etiologic rare variants in autism multiplex 

families: Exome and CNVs analyses. C. Toma, A. Tristán, 

A. Hervás, B. Torrico, R. Valdés-Mas, N. Balmaña, M. 

Maristany, X. S. Puente, M. Bayés, B. Cormand. 

2579F Utility of a comprehensive multi-gene testing 

panel for epilepsy and evaluation of the expectations 

for whole exome sequencing in these disorders. 

G. Richard, E. Butler, D. McKnight, K. Retterer, A. 

Shanmugham, R. Rubenstein, K. Hruska, E. Haverfield, S. 

Aradhya. 

2580W Rare variants within PAX6 enhancer elements 

are enriched in rolandic epilepsy. L. Addis, T. Chiang, 

A. Derkach, S. Newhouse, S. Dobbins, I. Tomlinson, R. 

Houlston, L. J. Strug, D. K. Pal. 


POSTER SESSIONS


2581T Mutations in the novel protein PRRT2 cause 

paroxysmal kinesigenic dyskinesia with infantile 

convulsions. H.-Y. Lee, Y. Huang, N. Bruneau, M. 

Hermann, E. Quinn, J. Maas, R. Edwards, K. Bhatia, M. K. 

Bruno, H. Houlden, J. Jankovic, W. Lee, U. Müller, B.-W. 

Soong, K. J. Swoboda, N. Wood, M. Hanna, A. Bowcock, 

P. Szepetowski, Y.-H. Fu, L. J. Ptacek. 

2582F Identification of rare variants under an 

alcoholism susceptibility linkage peak in a COGA 

family using whole exome sequencing. M. Kapoor, J. 

Wang, A. Hinrichs, S. Bertelsen, J. Budde, A. Agrawal, J. 

Tischfield, L. Almasy, M. Schuckit, L. Bierut, A. Goate. 

2583W Deep resequencing of 9 confirmed late-onset 

Alzheimer disease loci identifies multiple genomic 

regions with potentially functional variants. J. R. 

Gilbert, A. C. Naj, L. Wang, M. A. Kohli, K. L. Hamilton, R. 

Rajbhandary, P. L. Whitehead, R. M. Carney, B. Levin, E. 

A. Crocco, C. B. Wright, G. W. Beecham, E. R. Martin, S. 

Zuchner, J. L. Haines, M. A. Pericak-Vance. 

2584T Whole exome sequencing in childhood-onset 

schizophrenia. K. Ahn, H. Sung, T. Anderson, Y. Yao, J. 

Rapoport. 

2585F Complete genome sequence based genetic 

analysis of monozygotic twins discordant for 

schizophrenia. C. Castellani, R. O’Reilly, S. Singh. 

2586W Exome sequencing of extended pedigrees 

with late-onset Alzheimer disease identifies TTC3 as 

a candidate gene for AD. K. Hamilton, M. A. Kohli, A. 

C. Naj, R. Rajbhandary, T. Plitnik, K. John-Williams, P. L. 

Whitehead, J. R. Gilbert, E. R. Martin, G. W. Beecham, J. 

L. Haines, S. Zuchner, M. A. Pericak-Vance. 

2587T Exome sequencing reveals de novo gene 

disruptions in children on the autistic spectrum. I. 

Iossifov, M. Ronemus, D. Levy, Z. Wang, I. Hakker, J. 

Rosenbaum, B. Yamrom, Y. Lee, G. Narzisi, A. Leotta, J. 

Kendall, E. Grabowska, B. Ma, L. Rodgers, J. Troge, P. 

Andrews, E. Ghiban, J. Parla, R. Demeter, L. L. Fulton, R. 

S. Fulton, V. J. Magrini, K. Ye, J. C. Darnell, R. B. Darnell, 

E. R. Mardis, R. K. Wilson, M. C. Schatz, W. R. McCombie, 

M. Wigler. 

2588F Secretin receptor and the associated molecular 

processes relevant to autism spectrum disorder. K. 

Kojima, T. Yamagata, A. Matsumoto, M. Saito, E. F. Jimbo, 

M. Y. Momoi. 

2589W Exome sequencing of multiplex, schizophrenic 

families implicate variants from chromosome 5q in 

neurocognitive performance. M. Z. Kos, M. A. Carless, 

J. Peralta, E. E. Quillen, R. C. Gur, M. F. Pogue-Geile, 

K. Prasad, J. Blangero, V. L. Nimgaonkar, R. E. Gur, L. 

Almasy. 

2590T Mining for rare genetic variation underlying 

psychiatric disorders using family-based sequencing. 

S. McCarthy, J. Badner, D. Morris, M. Ayub, M. Kramer, D. 

Blackwood, A. Corvin, W. Byerley, W. R. McCombie. 

2591F Identification of the causative gene for SPG27 

by exome capture. A. Noreau, I. A. Meijer, S. L. Girard, D. 

Spiegelman, A. Szuto, P. Cossette, P. A. Dion, G. A. Rouleau. 

2592W DEC2 gene mutations associated with distinct 

sleep phenotypes and sleep length. R. Pellegrino, I. 

H. Kavakli, N. Goel, C. Cardinale, D. Dinges, S. Tufik, J. 

Hogenesh, A. Pack, H. Hakonarson. 

2593T Common and rare variants in obsessivecompulsive 

disorder identified by exome and targeted 

resequencing. D. Trujillano, S. Ossowski, P. Alonso, C. 

Tornador, J. M. Menchón, M. Gratacòs. 

2594F Deep whole genome sequencing in 18 Irish 

individuals with schizophrenia. B. T. Webb, E. Loken, 

T. B. Bigdeli, B. Wormley, F. A. O’Neill, D. Walsh, K. S. 

Kendler, B. P. Riley. 

2595W The genetic architecture of severe nonsyndromic 

sporadic intellectual disability. T. Wieland, D. 

Wieczorek, E. Graf, S. Endele, T. Schwarzmayr, J. Beygo, 

N. Di Donato, A. Dufke, M. Hempel, D. Horn, P. Joset, A. 

Röpke, U. Moog, E. Wohlleber, C. Zweier, A. B. Ekici, A. 

M. Zink, A. Rump, C. Meisinger, H. Grallert, H. Sticht, A. 

Schenck, H. Engels, G. Rappold, P. Wieacker, O. Riess, T. 

Meitinger, A. Reis, T. M. Strom, A. Rauch. 

2596T A spectrum of mutations in 12 PLP1-related 

disorders in patients from SARAH network of 

rehabilitation hospitals in Brazil. S. C. L. Santos, D. R. 

Carvalho, R. I. Takata, C. E. Speck-Martins. 

2597F Association between the NMDA receptor 

subunit 2B gene (GRIN2B) gene and Alzheimer’s 

disease. F. Trecroci, R. Cittadella, M. Liguori, F. Condino, 

P. Spadafora, E. V. De Marco, G. Di Palma, V. Andreoli. 

2598W Rare missense variants in CHRNA5 and 

CHRNB3 are associated with increased risk of alcohol 

and cocaine dependence. G. Haller, J. Budde, M. 

Kapoor, A. Agrawal, H. Edenberg, J. Kramer, L. Bierut, A. 

Goate. 

2599T Excess of rare variants from targeted 

resequencing of the NKAPL gene in schizophrenia. 

E. K. Loken, D. Brohawn, D. Walsh, F. A. O’Neill, K. S. 

Kendler, B. P. Riley. 

2600F Exome sequencing of singleton trios and quads 

to reveal de novo mutations in schizophrenia. A. C. 

Watts, T. Walsh, M. K. Lee, S. Gulsuner, A. M. Thornton, J. 

McClellan, M. C. King, Genes in Schizophrenia (GENESIS) 

Consortium. 

2601W Novel missense mutations and partial 

deficiency of collagen VI in Ullrich congenital muscular 

dystrophy. J. Yuan, I. Higuchi, Y. Sakiyama, Y. Inamori, 

E. Matsuura, Y. Higuchi, A. Yoshimura, A. Hashiguchi, K. 

Higashi, Y. Koreeda, K. Arimura, H. Takashima. 

2602T Searching for the genes of Tourette’s: The 

Tourette International Collaborative Genetics Study. G. 

A. Heiman, T. V. Fernandez, P. J. Hoekstra, A. Dietrich, R. 

A. King, M. W. State, J. A. Tischfield, TIC Genetics Team. 


2603F Evidence for involvement of EIF4G1, not VPS35 

variations in Parkinson disease. J. Vance, K. Nuytemans, 

G. Bademci, V. Inchausti, S. Zuchner, A. Dressen, C. 

Jauregio, D. D. Kinnamon, A. Mehta, Y. Pasco, A. Aviram, A. 

Diaz, L. Wang, F. Nahab, C. Singer, W. Hulme, I. Konidari, Y. 

Edwards, G. Beecham, E. R. Martin, W. K. Scott. 

2604W Revealing the complex nature of a monogenic 

disease: Exome sequencing of Rett syndrome. F. Ariani, 

M. A. Mencarelli, E. Grillo, L. Bianciardi, I. Meloni, C. Di 

Marco, C. Lo Rizzo, F. Mari, A. Renieri. 

2605T De novo indels in autism spectrum disorders. S. 

Dong, S. Sanders, A. J. Willsey, M. Murtha, N. DiLullo, L. 

Wei, M. State. 

2606F Resequencing and promoter methylation 

analysis of the dopamine D2 receptor gene in 

schizophrenia. Y. Chuang, M. Cheng, C. Lu, M. Tsai, Y. 

Shen, S. Hsu, C. Chen. 

2607W A comprehensive genetic analysis of 421 

Japanese patients with Charcot-Marie-Tooth 

disease using DNA microarray chips. A. Hashiguchi, 

A. Yoshimura, Y. Higuchi, T. Nakamura, S. Tokunaga, Y. 

Okamoto, H. Takashima. 

2608T A new frameshif mutation in the dopamine 

receptor D4 exon III VNTR 7-repeat allele. D. S. S. Lobo, 

M. Tampakeras, N. Freeman, J. L. Kennedy. 

2609F SPG4 mutations in Brazilian patients with 

hereditary spastic paraplegia. I. Lopes-Cendes, D. B. 

Dogini, C. Cartaxo, S. Raskin, H. A. G. Teive, J. Saute, L. 

B. Jardim, M. C. França, Jr. 

2610W Changes in the human transcriptome caused by 

LMNB1 duplication in a case of autosomal dominant 

leukodystrophy: An RNA-seq study. P. Cherukuri, D. 

Simeonov, K. Fuentes-Fajardo, P. Zumbo, C. Mason, S. 

Lin, Y. H. Fu, C. Boerkoel, T. Markello, W. Gahl, C. Toro. 

2611T Exome sequencing of young onset sporadic 

amyotrophic lateral sclerosis trios. A. E. Renton, J. R. 

Gibbs, J. O. Johnson, M. A. Nalls, C. Sassi, Y. Abramzon, 

C. Edsall, G. Restagno, M. Sabatelli, A. Chiò, B. J. Traynor. 

2612F PRRT2 gene missense mutations account for 

both paroxysmal kinesigenic dyskinesia and infantile 

convulsions in a Chinese pedigree. C. Cai, W. D. Li. 

2613W Whole-exome sequencing and homozygosity 

analysis to dissect autism, a complex genetic disorder. 

M. H. Chahrour, T. W. Yu, E. T. Lim, B. Ataman, M. E. 

Coulter, R. S. Hill, C. R. Stevens, C. R. Schubert, ARRA 

Autism Sequencing Collaboration, M. E. Greenberg, S. B. 

Gabriel, C. A. Walsh. 

2614T Gene-based rare variant analyses reveal loci 

associated with autism spectrum disorder. N. Dueker, 

E. R. Martin, A. J. Griswold, H. N. Cukier, S. Slifer, J. 

Jaworski, I. Konidari, P. L. Whitehead, M. Schmidt, D. 

J. Hedges, D. Martinez, S. Clarke, M. L. Cuccaro, J. R. 

Gilbert, J. L. Haines, M. A. Pericak-Vance. 


2615F Data sharing in the genomic age: Genome 

Variant Database for Neuromuscular Diseases. M. 

Gonzalez, R. F. Acosta Lebrigio, S. Zuchner. 

2616W X-linked Charcot-Marie-Tooth disease type 1 

in Japan: Genetic, clinical, and electrophysiological 

study of 33 cases. Y. Higuchi, A. Yoshimura, T. 

Nakamura, S. Tokunaga, A. Hashiguchi, Y. Okamoto, H. 

Takashima. 

2617T De novo mutations in autism spectrum disorders 

revealed by whole genome sequencing. Y. Jiang, X. Jin, 

J. Yu, R. K. Yuen, D. Cao, M. Wang, S. Walker, L. Lau, D. 

Merico, Y. Shi, Q. Xu, B. Zhou, Z. Hu, B. Cheng, N. Chen, 

J. Mei, K. Xia, X. Xu, Y. Wang, Y. Wu, J. Wang, J. Wang, 

C. Lajonchere, G. Dawson, H. Yang, A. Shih, B. Devlin, Z. 

Sun, S. W. Scherer, Y. Li. 

2618F Analysis of low-frequency, protein altering 

variation in 13,000 individuals from a Swedish 

schizophrenia cohort on the exome array. B. M. Neale, 

J. Goldstein, C. O’Dushlaine, M. Fromer, G. Genovese, J. 

L. Moran, K. Chambert, C. M. Hultman, P. Sklar, S. Purcell, 

M. J. Daly, P. F. Sullivan, S. McCarroll. 

2619W Search for rare-variant risks of Parkinson’s 

disease by sequencing of candidate genes and exome 

sequencing. W. Satake, Y. Suzuki, Y. Ando, T. Nishioka, K. 

Syoji, H. Tomiyama, M. Yamamoto, M. Murata, N. Hattori, 

S. Sugano, T. Toda. 

2620T Rare combination of inherited mutations 

in a large multigenerational pedigree with autism 

spectrum disorder and co-morbid neurodevelopmental 

disorders. P. Szatmari, O. Migita, I. O’Connor, A. Prasad, 

D. Sato, S. Walker, A. Thompson, S. W. Scherer, D. Pinto. 

2621F Resequencing of 17 genes in the N-methyl-Daspartate 

glutamate system to identify rare variants 

affecting risk of substance dependence. P. Xie, H. R. 

Kranzler, J. H. Krystal, L. A. Farrer, H. Zhao, J. Gelernter. 

2622W Widespread novel RNA editing in human brain 

tissue, identified by RNA-seq. L. Hou, N. Akula, J. 

Wendland, D. T. Chen, X. Jiang, K. Choi, B. K. Lipska, J. E. 

Kleinman, F. J. McMahon. 

2623T Association of the polymorphisms of ITPK1 gene 

in inositol metabolic pathways with NTDs. Z. Guan, J.- 

H. Wang, J. Guo, F. Wang, X.-W. Wang, G.-N. Li, Q. Xie, X. 

Han, B. Niu, T. Zhang. 

2624F High apolipoprotein E4 allele frequency in FXTAS 

patients. M. Mila, F. Silva, I. Madrigal, M.-I. Alvarez-Mora, 

R. Oliva, L. Rodriguez-Revenga. 

2625W Generation and characterization of induced 

pluripotent stem cells from patients with the 

autosomal dominant disorder spinocerebellar ataxia 

type 1. N. Mollema, A. Shanmugam, E. Leathley, D. 

Kaufman, H. T. Orr. 


POSTER SESSIONS


2626T Quality of life in Machado-Joseph disease/ 

spinocerebellar ataxia type 3 is related to depressive 

and extracerebellar disease features. J. A. Saute, R. 

D’Ávila, R. M. Castilhos, T. L. Monte, A. F. S. Schuh, K. 

C. Donis, G. N. Souza, A. D. Russo, T. C. Gheno, G. V. 

Furtado, M. L. Saraiva-Pereira, C. R. M. Rieder, L. B. 

Jardim. 

2627F A health non penetrant pedigree derives from a 

late onset Parkinsonism founder index case with SCA2 

and SCA8 expansions. V. Volpini, H. San Nicolas, J. 

Corral, L. De Jorge, B. Campos. 

2628W Impaired TFEB signaling accounts 

for autophagy pathway dysfunction in the 

neurodegenerative proteinopathy X-linked spinal and 

bulbar muscular atrophy. C. Cortes, Y. Batlevi, J. E. 

Young, H. Frankowski, B. L. Sopher, G. A. Garden, A. R. 

La Spada. 

2629T The histone demethylase KDM5C gene is a 

direct target of the ARX homeobox transcription 

factor. L. Poeta, F. Fusco, D. Drongitis, C. Shoubridge, 

G. Manganelli, A. Padula, S. Filosa, M. Courtney, P. 

Collombat, M. B. Lioi, J. Gecz, M. V. Ursini, M. G. Miano. 

2630F 15q11.2 Microdeletion and FMR1 premutation 

in a family with intellectual disabilities and autism. L. 

Rodriguez-Revenga, I. Madrigal, M. Mila. 

2631W FRAXE molecular diagnosis in individuals 

referred for FRAXA screening. A. Javed, G. Ali, L. 

Caicedo, I. Marques, R. Santos, P. Jorge. 

2632T An isogenic, epi-isoautosomal fibroblast 

model to investigate FMR1 premutation-associated 

cellular dysfunction. K. A. Koscielska, S. Roenspie, P. J. 

Hagerman. 

2633F Formation of an R-loop at the FMR1 5’UTR: 

Unraveling the extra thread of FMR1 expression. E. W. 

Loomis, F. L. Chédin, P. J. Hagerman. 

2634W The role of AGG interruptions, alternative 

splicing and bidirectional transcription in the stability 

and function of the FMR1 gene. C. M. Yrigollen, H. Tang, 

E. Loomis, G. Filippova, P. J. Hagerman, F. Tassone. 

2635T MutL� is required to repair short slipped-DNAs 

of trinucleotide repeats. G. Panigrahi, M. Slean, J. 

Simard, C. Pearson. 

2636F Regional alterations of transcriptome-wide 

AGO:miRNA binding profiles in Huntington’s disease 

patient brains. R. L. Boudreau, P. Jiang, B. L. Gilmore, Y. 

Xing, B. L. Davidson. 

2637W Large repeat expansions in the C9ORF72 

gene contribute to a spectrum of neurodegenerative 

disorders including Alzheimer disease. M. A. Kohli, 

K. John-Williams, R. Rajbhandary, A. Naj, P. Whitehead, 

K. Hamilton, R. M. Carney, C. Wright, E. Crocco, H. E. 

Gwirtzman, R. Lang, G. Beecham, E. R. Martin, J. Gilbert, 

M. Benatar, G. W. Small, D. Mash, G. Byrd, J. L. Haines, 

M. A. Pericak-Vance, S. Züchner. 

2638T C9ORF72 repeat expansions are a genetic cause 

of parkinsonism. S. Lesage, I. Le Ber, C. Condroyer, 

E. Broussolle, A. Gabelle, S. Thobois, A. Durr, A. Brice, 

Parkinson’s Disease Genetics Study Group. 

2639F Autosomal dominant family history is a highly 

sensitive but not exclusive indicator of pathogenic 

C9ORF72 expansions in frontotemporal dementia and 

amyotrophic lateral sclerosis. J. C. Fong, S. J. Sha, L. 

Takada, K. J. Rankin, J. S. Yokoyama, N. J. Rutherford, 

A. M. Karydas, B. K. Khan, M. C. Baker, M. DeJesus- 

Hernandez, M. Pribadi, G. Coppola, D. H. Geschwind, R. 

Rademakers, A. L. Boxer, B. L. Miller. 

2640W Walking down the molecular pathogenic road of 

ARX polyalanine tract expansions: Where do they part? 

C. Shoubridge, K. P. Y. Lee, T. Mattiske, J. Gécz. 

2641T Copy number variation of the neuronal glucose 

transporter 3 and age of onset in Huntington’s disease. 

A. Vittori, C. Breda, M. Repici, T. F. Outeiro, F. Giorgini, E. 

J. Hollox, REGISTRY Investigators of EHDN. 

2642F Spinocerebellar ataxias in Brazil: Frequencies 

and potential modifiers of phenotype. R. M. Castilhos, 

P. Schaeffer, T. C. Gheno, G. V. Furtado, K. C. Donis, O. 

Barsottini, J. L. Pedroso, D. Z. Salarini, F. R. Vargas, M. 

A. F. D. Lima, C. Godeiro, L. C. S. Silva, M. B. P. Toralles, 

H. Y. Wanderley, P. F. V. Medeiros, S. Santos, H. van den 

Linden, E. M. Ribeiro, E. T. Pereira, M. L. Saraiva-Pereira, 

L. B. Jardim, Rede Neurogenética. 

2643W Comprehensive haplotype analysis of the 

Huntington’s disease gene. J. Lee, H. Li, J. C. Roach, N. 

Goodman, L. Hood, J. A. Kaye, H. Zayed, I. H. Kratter, A. 

C. Daub, S. Finkbeiner, R. H. Myers, M. E. MacDonald, J. 

F. Gusella. 

2644T Brain-specific junctophilins: Function and role 

in neurodegeneration. X. Sun, M. Bhat, C. Zhang, W. 

Zheng, R. L. Margolis, D. D. Rudnicki. 

2645F Repeat associated non-AUG translation in repeat 

expansion disorders. T. Zu, B. Gibbens, L. P. W. Ranum. 

2646W microRNA expression in Alzheimer’s disease: 

An exploratory investigation. L. M. Bekris, F. Lutz, T. J. 

Montine, C. E. Yu, E. R. Peskind, J. B. Leverenz. 

2647T Behavioral abnormalities of knockout mice 

of Grm3, a candidate gene for schizophrenia 

susceptibility. Y. Fukumaki, R. Fujioka, T. Nii, A. Iwaki, A. 

Shibata, I. Ito, K. Kitaichi, M. Nomura, S. Hattori, K. Takao, 

T. Miyakawa. 

2648F Repeat expansion in C9ORF72 in Alzheimer’s 

disease. E. Majounie, Y. Abramzon, A. E. Renton, R. Perry, 

S. S. Bassett, O. Pletnikova, J. C. Troncoso, J. Hardy, A. B. 

Singleton, B. J. Traynor. 

2649W Oxr1 is essential for protection against 

oxidative stress-induced neurodegeneration. P. L. 

Oliver, M. J. Finelli, K. Liu, B. Edwards, E. Bitoun, E. B. 

Becker, K. E. Davies. 


2650T Joint SNP analysis identifies multiple signals 

underlying association between CHRNB3-CHRNA6 and 

nicotine dependence. B. Sadler, E. Johnson, N. Saccone, 

L. Bierut, A. Goate. 

2651F Variation in gene expression related 

to schizophrenia-associated neurocognitive 

endophenotypes. E. E. Quillen, M. A. Carless, J. Neary, M. 

Z. Kos, R. C. Gur, M. F. Pogue-Geile, K. Prasad, J. Blangero, 

H. H. H. Göring, V. L. Nimgaonkar, R. E. Gur, L. Almasy. 

2652W A genome-wide epigenetic analysis in 

monozygotic twins discordant for schizophrenia. F. 

Nishimura, A. Yoshikawa, S. Nanko, A. Imamura, Y. Okazaki, 

K. Iwamoto, T. Kato, T. Sasaki, K. Kasai, C. Kakiuchi. 

2653T microRNA-9 and -206 expression profile in 

human amyotrophic lateral sclerosis. D. Dogini, A. 

Nucci, I. Lopes-Cendes, M. C. França, Jr. 

2654F Altered cell growth and mTOR signaling in 

idiopathic autism spectrum disorders. A. M. Suzuki, C. 

O. F. Machado, K. G. Oliveira, E. Vadasz, M. R. Passos- 

Bueno, A. L. Sertie. 

2655W Investigating the genetic susceptibility to 

epilepsy in animal models using gene expression 

studies. A. H. B. Matos, V. D. B. Pascoal, D. R. 

Nascimento, M. Martins, C. S. Rocha, J. F. Vasconcellos, 

M. T. Chamma, C. V. Maurer-Morelli, A. S. Martins, A. C. 

Valle, A. L. B. Godard, I. Lopes-Cendes. 

2656T Effects of oral L-carnitine administration in 

narcolepsy patients. T. Miyagawa, H. Kawamura, M. Obuchi, 

A. Ikesaki, A. Ozaki, K. Tokunaga, Y. Inoue, M. Honda. 

2657F Discovery of genetic syndromes in patients 

manifesting with primary neuropsychiatric disorders. J. 

So, J. L. Kennedy. 

2658W Genomic and bioinformatic analyses of sex 

differences in autism spectrum disorder. D. M. Werling, 

J. K. Lowe, V. Chandran, R. M. Cantor, D. H. Geschwind, 

ACE Genetics Consortium. 

2659T Analysis of RBFOX1 gene expression in 

lymphoblastoid cell lines of discordant ASD sib pairs. 

C. Zusi, P. Prandini, G. Malerba, A. Marostica, E. Trabetti, 

P. F. Pignatti, Italian Autism Network. 

2660F Protein-protein interaction network for autism 

spectrum disorders. R. Corominas, X. Yang, G. N. Lin, S. 

Kang, Y. Shen, L. Ghamsari, S. A. Wanamaker, S. Tam, M. 

Rodriguez, M. Broly, V. Romero, I. Lemmens, M. Tasan, J. 

Tavernier, F. P. Roth, M. Calderwood, J. Sebat, K. Salehi- 

Ashtiani, D. E. Hill, M. Vidal, T. Hao, L. M. Iakoucheva. 

2661W Transcriptome analysis of brain-related 

diseases in whole blood by RNA sequencing. S. 

de Jong, T. Wang, A. P. S. Ori, M. Wiedau-Pazos, E. 

Strengman, N. Tran, J. DeYoung, R. S. Kahn, M. P. M. 

Boks, S. Horvath, R. A. Ophoff. 


Molecular Basis of Mendelian 

Disorders 

2662W The role of GTF2IRD1 in the auditory pathology 

of Williams-Beuren syndrome. C. P. Canales, A. C. Y. 

Wong, G. D. Housley, P. W. Gunning, E. C. Hardeman, S. 

J. Palmer. 

2663T Tricellulin is required to maintain the barrier 

function of the reticular lamina and protect the 

cochlear hair cells from potassium toxicity. G. Nayak, I. 

A. Belyantseva, R. Yousaf, S. Edelmann, S. Lee, G. Sinha, 

M. Rafeeq, S. M. Jones, C. M. Van Itallie, J. M. Anderson, 

A. Forge, G. I. Frolenkov, S. Riazuddin. 

2664F Generation and characterization of Plp1dup, a 

new mouse model of Pelizaeus-Merzbacher disease 

with tandem genomic duplication. G. Hobson, K. Clark, 

L. Sakowski, K. Sperle, L. Banser, D. Bessert, R. Skoff. 

2665W Gtf2i copy number affects the growth of neural 

progenitors in the developing mouse cortex. H. Oh, L. 

R. Osborne. 

2666T GPM6A is duplicated in a patient with learning 

disability and behavioral anomalies and influences 

stress response and long-term memory in Drosophila 

melanogaster. C. Zweier, A. Gregor, J. Kramer, I. 

Schanze, A. B. Ekici, A. Schenck, A. Reis. 

2667F FASPS associated Per3 mutation affects 

mesenchymal stem cell differentiation. K. Kaasik, C. R. 

Jones, Y. H. Xu, S. Nishino, L. J. Ptacek, Y. H. Fu. 

2668W Characterization of a novel mitofusin 2 knockin 

mouse model. A. Rebelo, A. Strickland, F. Zhang, J. Price, 

J. Silva, R. Wen, B. Bolon, J. Vance, S. Zuchner. 

2669T Triply mouse model of Tay-Sachs disease shows 

altered brain ganglioside pattern. V. Seyrantepe, Z. 

Timur. 

2670F Deficiency of SPECC1L downregulates PI3K- 

AKT signaling in the pathogenesis of oblique facial 

clefts. N. R. Wilson, A. J. Olm-Shipman, L. Pitstick, B. C. 

Bjork, I. Saadi. 

2671W Transgenic rescue of BBS phenotypes in Bbs4 

null mice. X. Chamling, S. Seo, K. Bugge, C. C. Searby, A. 

V. Drack, K. Rahmouni, V. C. Sheffield. 

2672T Overexpression of Rai1 in mouse forebrain 

neurons is enough to cause most PTLS-like 

phenotypes. L. Cao, J. Molina, P. Carmona-Mora, A. 

Oyarzo, J. Young, K. Walz. 

2673F A zebrafish model for Richieri-Costa-Pereira 

syndrome: Knockdown of eif4a3 gene results in 

craniofacial development disorder. L. Alvizi, A. Weiner, 

F. Favaro, R. Zechi-Ceide, A. Richieri-Costa, M. Guion- 

Almeida, N. Calcaterra, M. R. Passos-Bueno. 


POSTER SESSIONS


2674W A glial origin for periventricular nodular 

heterotopia caused by impaired expression of 

Filamin-A. A. Carabalona, S. Beguin, E. Pallesi- 

Pocachard, E. Buhler, C. Pellegrino, K. Arnaud, P. Hubert, 

M. Ouahla, J.-P. Siffroi, S. Khantane, I. Coupry, C. Goizet, 

A. Bernabe-Gelot, A. Represa, C. Cardoso. 

2675T Mining phenotype and disease models from the 

mouse genome informatics resource. J. T. Eppig, S. M. 

Bello, H. Dene, A. Anagnostopoulos, H. Onda, R. Babiuk, 

M. N. Knowlton, M. Tomczuk, C. L. Smith. 

2676F Molecular genetics and modeling of a novel 

BBS5 mutation. M. H. Al-Hamed, C. V. Lennep, F. Al- 

Fadhly, R. J. Simms, B. F. Meyer, J. A. Sayer. 

2677W Limb differences in muscle dystrophy and gene 

expression in a murine model of MDC1A suggest possible 

targets for therapy. J. S. Benjamin, R. Marx, R. D. Cohn. 

2678T FREM1 deficiency causes a syndromic form of 

congenital diaphragmatic hernia in humans and mice. 

T. F. Beck, O. Shchelochkov, Z. Yu, B. Kim, H. Zaveri, B. 

Lee, D. W. Stockton, M. Justice, D. A. Scott. 

2679F Characterization of visual impairment in a Wfs1 

mouse model of Wolfram syndrome. C. Delettre, D. 

Bonnet-Wersinger, Y. Tanizawa, G. Lenaers, C. Hamel. 

2680W Gene therapy for X-linked retinitis pigmentosa in 

a knockout mouse model of RP2. S. Mookherjee, L. Li, A. 

K. Ghosh, N. Khan, P. Colosi, H. Khanna, A. Swaroop. 

2681T Altered splicing of BIN1 muscle-specific 

exon in human and Great Danes with progressive 

centronuclear myopathies. J. Bohm, N. Vasli, M. Maurer, 

B. S. Cowling, W. Kress, G. D. Shelton, U. Schara, J. 

Anderson, R. Herrmann, J. Weis, L. Tiret, J. Laporte. 

2682F Upregulation of androgen-binding protein is 

associated with testicular phenotype in Smarcal1 del/del 

mice. A. Baradaran-Heravi, C. F. Boerkoel. 

2683W A mouse model of mut � methylmalonic acidemia. 

J. S. Sénac, V. H. Aswani, J. R. Sysol, I. Manoli, C. P. Venditti. 

2684T Allelic heterogeneity contributes to variable 

ocular dysgenesis caused by Col4a1 and Col4a2 

mutations in mice. M. Mao, D. S. Kuo, C. Labelle- 

Dumais, M. Jeanne, J. Favor, D. B. Gould. 

2685F Tmprss3 loss of function impairs cochlear inner 

hair cell BK channel properties. B. Delprat, L. Molina, L. 

Fasquelle, R. Nouvian, N. Salvetat, H. Scott, M. Guipponi, 

F. Molina, J. L. Puel. 

2686W Interaction with p97/VCP alters the intracellular 

itinerary of the copper-transporting ATPase, ATP7A. L. 

Yi, S. G. Kaler. 

2687T JNK phosphorylation is responsible for the 

greater osteogenic potential of periosteum derived 

fibroblasts harboring the FGFR2 S252W mutation 

(Apert syndrome). R. Atique, E. Yeh, H. Matsushita, N. 

Alonso, M. R. Passos-Bueno. 

2688F Novel p.Leu795Pro INSR mutation with 

decreased autophosphorylation in a patient with 

Donohue syndrome. T. Hovnik, K. Trebusˇ ak Podkrajsˇ ek, 

J. Kovač , N. Bratanič , T. Battelino. 

2689W Post-transcriptional regulation of DMD by its 

3’UTR. A. Larsen, M. Howard. 

2690T NPHP10 (SDCCAG8) interacts with components 

of the multi-aminoacyl-tRNA synthetase complex. K. 

Weihbrecht, M. Humbert, V. Sheffield, S. Seo. 

2691F Effect of the mutations Gly250Val and Leu451Val 

on the expression of the gene HEXA: Disease causing 

or pseudo-mutations. L. Peleg, R. Svirski, Y. Lerental, M. 

Karpati, A. J. Simon. 

2692W Identification and biochemical characterization 

of a novel mutation in DDX11 causing Warsaw 

breakage syndrome. J.-M. Capo-Chichi, S. Bhati, J. 

A. Sommers, T. Yammine, E. Chouery, L. Patry, G. A. 

Rouleau, M.-E. Samuels, F. F. Hamdan, J. L. Michaud, R. 

M. Brosh, Jr., A. Megarbane, Z. Kibar. 

2693T Development of a cell-based reporter assay for 

the analysis of regulatory interactions between FGF23/ 

KLOTHO/FGFR1, small inhibitors, and downstream 

targets. S. Diener, B. Lorenz-Depiereux, T. M. Strom. 

2694F The most activating calcium-sensing receptor 

mutation is located in the sixth transmembrane domain 

and can be corrected with chemical treatments. A.-S. 

Lia-Baldini, A. Nizou, C. Magdelaine, F. Sturtz, B. Funalot, 

A. Liendhard. 

2695W Dysregulated pathways in Cornelia de Lange 

syndrome cells mutated in core cohesin genes. 

A. Musio, L. Mannini, A. Gimigliano, l. Bianchi, M. A. 

Deardorff, F. Cucco, I. D. Krantz, L. Bini. 

2696T Conformations of slipped-DNA junctions 

determine correct or mutagenic repair of CAG/ 

CTG repeats. M. M. Slean, K. Reddy, B. Wu, K. Nichol 

Edamura, M. Kekis, F. Nelissen, R. Aspers, M. Tessari, O. 

D. Scharer, S. S. Wijmenga, C. E. Pearson. 

2697F High incidence of SMAD3 mutations in thoracic 

aortic aneurysm and/or dissection patients. H. 

Morisaki, I. Yamanaka, A. Yoshida, R. Sultana, H. Tanaka, 

Y. Iba, H. Sasaki, H. Matsuda, K. Minatoya, T. Kosho, N. 

Okamoto, A. Kawame, T. Morisaki. 

2698W Clinical exome sequencing leads to the 

diagnosis of Timothy syndrome in a patient with 

prolonged QT, dysmorphic features, seizures, and 

intellectual disability. W. Zeng, K. D. Gonzalez, X. Li, H. 

M. Lu, H. Lu, E. M. Miller, S. Ware, J. J. Wei. 

2699T Mutations in calmodulin cause ventricular 

tachycardia and sudden cardiac death. M. Nyegaard, 

M. T. Overgaard, M. T. Søndergaard, M. Vranas, E. R. Behr, 

L. L. Hildebrandt, J. Lund, P. L. Hedley, A. J. Camm, G. 

Wettrell, I. Fosdal, M. Christiansen, A. D. Børglum. 


2700F Role of SP1-binding site polymorphism of 

COLIAI gene and a sequence variation 713-8 del C of 

TGF�1 polymorphism in osteoporosis in thalassemia 

major patients. S. Agarwal, K. Singh, R. Kumar. 

2701W Loss-of-function mutations in IGSF1 cause 

a novel X-linked syndrome of TSH deficiency and 

macroorchidism. M. Breuning, Y. Sun, B. Bak, N. 

Schoenmaker, A. S. P. van Trotsenburg, P. Voshol, E. 

Cambridge, J. White, P. le Tisser, S. Mousavy Gharavy, J. 

Martinez-Barbera, W. Oostdijk, L. Persani, P. Beck-Peccoz, 

T. Davis, A. Hokken-Koelega, C. Ruivenkamp, J. F.J. Laros, 

M. Kriek, S. Kant, J. T. den Dunnen, R. Hennekam, K. 

Chatterjee, M. Dattani, J. Wit, D. Bernard. 

2702T Hyperphagia, leptin, and brain-derived 

neurotrophic factor in subjects with Alström syndrome 

and BMI-Z matched controls. M. D. Hicks, J. D. 

Marshall, P. Maffei, A. E. Hanish, L. A. Hunter, S. M. Brady, 

N. M. Sedaka, R. Sherafat Kazemzadeh, J. W. Tsao, G. 

Milan, J. Naggert, J. A. Yanovski, J. C. Han. 

2703F The Euro-WABB Registry: Differences in molecular 

genetic confirmation between monogenic Wolfram, 

Alström, and Bardet-Biedl syndromes. A. Farmer, S. Ayme, 

P. Maffei, S. Mccafferty, R. Sinnott, W. Mlynarski, V. Nunes, V. 

Paquis, K. Parkinson, V. Tillman, T. Barrett. 

2704W Biallelic RFX6 inactivation can cause intestinal 

atresia with childhood rather than neonatal onset 

diabetes. F. H. Sansbury, R. Caswell, H. Lango Allen, S. E. 

Flanagan, B. Kirel, S. Ellard, A. T. Hattersley. 

2705T Identification of a de novo mutation in the 

thyroid hormone receptor � gene in a Colombian family 

with RTH. M. C. Lozano, L. Mejia, P. Duran, C. Lattig. 

2706F Use of lineage markers to predict founder effect 

of E180Splice mutation in GHR gene causing Laron 

syndrome: A witness of Jewish exodus. F. T. Goncalves, 

C. Fridman, E. M. Pinto, Z. Laron, J. Guevara-Aguirre, F. 

G. Carsola, D. Damiani, T. S. Lins, O. Shevah, V. Hwa, A. 

L. Rosembloom, R. G. Rosenfeld, U. P. Arnhold, A. A. L. 

Jorge. 

2707W Genetics of congenital hypogonadotropic 

hypogonadism in Denmark. J. Tommiska, P. 

Christiansen, N. Jørgensen, J. Lawaetz, A. Juul, T. Raivio. 

2708T A rare gain-of-function mutation in an 

inhibitory upstream open reading frame in CDKN1B 5’ 

untranslated region causes MEN4 phenotype. G. Occhi, 

D. Regazzo, G. Trivellin, F. Boaretto, D. Ciato, S. Ferasin, F. 

Cetani, E. Pardi, M. Korbonits, N. Pellegata, G. Opocher, F. 

Mantero, C. Scaroni. 

2709F Next-generation sequencing to identify cryptic 

ABCC8 and HADH splice site mutations in patients 

with congenital hyperinsulinaemic hypoglycaemia. S. 

Ellard, R. Caswell, M. Weedon, K. Hussain, S. E. Flanagan. 

2710W ABCC8 and KCNJ11 gene mutational analysis 

in Slovenian patients with neonatal diabetes and 

congenital hyperinsulinism. K. Trebusˇ ak Podkrajsˇ ek, M. 

Avbelj, T. Hovnik, N. Bratina, N. Bratanič , T. Battelino. 


2711T Severe familial growth hormone deficiency due 

to defective U12-dependent processing of pituitary 

developmental genes. L. A. Perez-Jurado, R. Flores, G. 

A. Martos-Moreno, I. Cuscó, J. Argente. 

2712F Impaired energy homeostasis and arrested 

maturation underlie neutrophil dysfunction in glycogen 

storage disease type Ib. H. S. Jun, D. A. Weinstein, Y. M. 

Lee, B. C. Mansfield, J. Y. Chou. 

2713W A novel mutation in PSTPIP1 is responsible 

for PAPA syndrome in a Jordanian child. H. El-Shanti, 

F. Al-Amri, B. Fathalla, S. Al-Dosari, M. Al-Mutawa, M. 

Kambouris. 

2714T Prevalence of �� anti3.7 triplication in betathalassemia 

carriers in south of Iran. G. Shariati, 

M. Hamid, A. H. Saberi, B. Sharififard, B. Keikhaei, M. 

Pedram. 

2715F Mutational analysis of Korean patients with 

Diamond-Blackfan anemia. H. Chae, J. Park, M. Kim, A. 

Kwon, S. Lee, Y. Kim, J. W. Lee, N. G. Chung, B. Cho, D. 

C. Jeong. 

2716W Apoptosis is responsible for neutropenia in 

Cohen syndrome. L. Duplomb, L. Faivre, A. Hammann, 

G. Jego, N. Droin, E. Lopez, B. Aral, N. Gigot, S. El 

Chehadeh, F. Huet, P. Callier, J. Thevenon, V. Carmignac, 

C. Capron, M.-A. Gougerot-Pocidalo, F. Girodon, J.-N. 

Bastie, L. Delva, C. Thauvin-Robinet. 

2717T A novel pig model of SCID; A tool for cancer and 

immune research. N. M. Ellinwood, E. H. Waide, D. M. 

Thekkoot, N. Boddicker, R. R. R. Rowland, E. M. Snella, J. 

K. Jens, C. R. Wyatt, J. W. Ross, D. Troyer, C. K. Tuggle, J. 

C. M. Dekkers. 

2718F Polymorphism in the HMOX-1 gene is associated 

with high levels of HbF in Brazilian patients with sickle 

cell anemia. M. B. Melo, G. P. Gil, G. Ananina, M. B. 

Oliveira, M. J. Silva, M. N. N. Santos, M. A. C. Bezerra, B. 

L. D. Hatzlhofer, A. S. Araujo, F. F. Costa. 

2719W Beta-thalassemia in the Aegan Region of 

Turkey: Identification of a novel deletion mutation. F. 

Ozkinay, H. Onay, E. Karaca, E. Arslan, A. Ece, B. Erturk, 

M. Tekin, O. Cogulu, Y. Aydinok, C. Vergin. 

2720T Development of a diagnostic panel for 

genetic immunodeficiencies using next-generation 

sequencing. E. M. Coonrod, J. Durtschi, A. Kumanovics, 

R. L. Margraf, H. R. Hill, K. V. Voelkerding. 

2721F Spectrum of gene mutations in Chinese patients 

with refractory human herpes viruses associated 

disease. H. Liu, F. Wang, Y. Zhang, Y. Wang, W. Teng, L. 

Guo, C. Tong, T. Wu, Y. Zhao, J. Gu, D. Lu. 

2722W Exome sequencing identifies missense IRF2BP2 

mutation in a family with autosomal dominant common 

variable immunodeficiency. L. Tian, D. Li, M. Keller, K. 

Cecilia, E. Frackelton, F. Otieno, H. Hakonarson, J. S. 

Orange. 


POSTER SESSIONS


2723T C-terminal frameshift truncation and extension 

mutation in POU3F4. W. Park, B. Choi, D. Kim, A. Kim. 

2724F Dominant allele of DFNM1 suppresses DFNB26 

associated recessive hearing loss. R. Yousaf, Z. M. 

Ahmed, G. Nayak, R. J. Morell, S. Sumanas, E. R. Wilcox, 

S. Riazuddin, T. B. Friedman, S. Riazuddin. 

2725W Phenome-wide, cross-species comparisons 

identify novel disease genes with high accuracy. D. P. 

Smedley, C. J. Mungall, S. C. Doelken, S. Köehler, B. J. 

Ruef, M. Westerfield, P. N. Robinson, S. E. Lewis, W. C. 

Skarnes, Members of Mouse Genetics Project. 

2726T Mutation screening in CYP1B1 in glaucoma 

cases from North India. A. Bhardwaj, V. Vanita. 

2727F Screening of SOX10 and MITF regulatory regions 

in Waardenburg syndrome type 2. N. Bondurand, V. 

Baral, A. Chaoui, Y. Watanabe, M. Goossens, T. Attie- 

Bitach, S. Marlin, V. Pingault. 

2728W Utilization of gene mapping and candidate gene 

mutation screening for diagnosing clinically equivocal 

conditions. V. Chini, D. Stambouli, F. M. Nedelea, G. A. 

Filipescu, D. Mina, H. El-Shanti, M. Kambouris. 

2729T Search for a new gene responsible for nonsyndromic 

craniosynostosis. S. El Chehadeh-Djebbar, F. 

Di Rocco, C. Collet, M. Le Merrer, J. Puechberty, G. Lefort, 

B. Aral, S. Lambert, N. Gigot, M. Payet, C. Ragon, N. 

Marle, A.-L. Mosca-Boidron, J.-R. Teyssier, F. Mugneret, C. 

Thauvin-Robinet, P. Sarda, L. Faivre, P. Callier. 

2730F Mutation screening in CNGA1 in an autosomal 

recessive retinitis pigmentosa family. S. Goyal, V. Vanita. 

2731W A novel mutation of the nicastrin (NCSTN) 

gene in a large Indian family with autosomal dominant 

hidradenitis suppurativa (or acne inversa). D. Jhala, U. 

Ratnamala, T. Y. Mehta, F. M. S. Al-Ali, M. Raveendrababu, 

S. S. Chettiar, M. V. Rao, S. Nair, J. J. Sheth, M. R. 

Kuracha, S. K. Nath, U. Radhakrishna. 

2732T A systematic approach to identifying disease 

genes in Mullerian aplasia. H.-G. Kim, H. K. Nishimoto, 

R. Ullmann, J. A. Phillips III, Y. Shen, R. H. Reindollar, H. H. 

Ropers, V. M. Kalscheuer, L. C. Layman. 

2733F Linkage analysis in an autosomal recessive 

retinitis pigmentosa family. V. Kumar, S. Saini. 

2734W Homozygosity mapping and mutation profile 

of the MYO7A gene in Saudi patients with Usher 

syndrome. K. Ramzan, M. Al-Owain, K. Taibah, G. Bin- 

Khamis, R. Allam, A. Al-Mostafa, S. Al-Hazza, F. Imtiaz. 

2735T Mutation analysis in an autosomal recessive 

retinitis pigmentosa family. S. Saini, J. R. Singh, V. 

Vanita. 

2736F The role of APCS and RBP4 genes as modifiers 

of age-at-onset in familial amyloid polyneuropathy 

(FAP ATTRV30M). D. Santos, T. Coelho, J. L. Neto, J. P. 

Basto, J. Sequeiros, I. Alonso, C. Lemos, A. Sousa. 

2737W Linkage analysis in families with autosomal 

dominant corneal dystrophies. D. Singh, V. Vanita. 

2738T A novel chromosomal locus in a family with 

primary ciliary dyskinesia. R. Parvari, M. Mazor, S. 

Alkrinawi, V. C. Sheffield, M. Aviram. 

2739F Polymorphism of VEGF+674 gene as potential 

risk factor for age related macular degeneration in 

Indian patients. D. Gupta, V. Gupta, S. Chawla, S. R. 

Phadke. 

2740W Whole genome analysis identifies mutations 

in inositol polyphosphate phosphatase-like 1 as the 

cause of opsismodysplasia. J. E. Below, D. Earl, K. M. 

Bofferding, M. J. McMillin, J. Smith, E. Turner, M. Stephan, 

L. Al-Gazali, J. Hertecant, D. H. Cohn, D. A. Krakow, D. A. 

Nickerson, M. J. Bamshad. 

2741T Novel loci for autosomal dominant nocturnal 

frontal lobe epilepsy. S. E. Heron, M. Bahlo, K. R. Smith, 

P. Hickey, C. Bromhead, C. P. Derry, J. S. Duncan, S. 

Howell, S. F. Berkovic, I. E. Scheffer, L. M. Dibbens. 

2742F Identification of a new gene for X-linked 

Charcot-Marie-Tooth neuropathy using linkage and 

exome analysis. M. Kennerson, E. Yiu, D. Chuang, 

S.-C. Tso, C. Ly, A. Kidambi, G. Perez Siles, M. Ryan, G. 

Nicholson. 

2743W A novel splice site mutation in Erlin2 gene 

causes complicated form of hereditary spastic 

paraplegia in a Saudi family. S. Majid, S. Bohlega, S. 

Hagos, H. Dossari, K. Ramzan, Z. Hassnan. 

2744T Clinical and genetic study of a new form of 

familial multiple keratoakanthoma in a Tunisian family: 

The palmoplantar familial multiple keratoacanthoma. 

O. Mamaô, L. Boussofara, L. Adala, I. Ben Charfeddine, S. 

Bouraoui, A. Amara, R. Nouira, M. Denguezli, B. Sriha, M. 

Gribaa, A. Saad. 

2745F FBLN5 mutation as the cause of HMSN I in 

a Czech family: Usefulness of combination of SNP 

linkage and exome sequencing analysis. D. Brozˇ ková, P. 

Lasˇ sˇ uthová, J. Lisoň ová, M. Kru˚ tová, P. Seeman. 

2746W Expansion of a repeat motif in the 

5’untranslated region of EIF4A3 causes craniofacial 

and limb defects (Richieri-Costa-Pereira syndrome). F. 

Favaro, R. M. Zechi-Ceide, L. Alvizi, J. Souza, T. M. Felix, 

S. R. F. Twigg, S. J. McGowan, A. O. M. Wilkie, A. Richieri- 

Costa, M. L. Guion-Almeida, M. R. Passos-Bueno. 

2747T A recurrent mutation of keratin 4 gene causing 

white sponge nevus in a Japanese family. M. Kimura, 

T. Nagao, J. Machida, S. Yamaguchi, A. Shibata, G. 

Takeuchi, H. Miyachi, K. Shimozato, Y. Tokita. 

2748F Molecular analysis of benign familial neonatalinfantile 

convulsion in a Japanese family. Y. Yamada, K. 

Yamada, D. Fukushi, K. Miura, N. Nomura, A. Yamano, T. 

Kumagai, N. Wakamatsu. 


2749W A newly identified locus for benign adult familial 

myoclonic epilepsy on chromosome 3q26.32-3q28. 

P. Yeetong, S. Ausavarat, R. Bhidayasiri, K. Piravej, N. 

Pasutharnchat, T. Desudchit, C. Chunharas, J. Loplumlert, 

C. Limotai, K. Suphapeetiporn, V. Shotelersuk. 

2750T Calpain-5 causes autoimmune uveitis, retinal 

neovascularization and photoreceptor degeneration. V. 

B. Mahajan, J. M. Skeie, A. G. Bassuk, J. H. Fingert, T. A. 

Braun, H. T. Daggett, J. C. Folk, V. C. Sheffield, E. M. Stone. 

2751F Soluble ICAM-1 levels are associated to a 

protective prognosis in sickle cell retinopathy. P. R. S. 

Cruz, T. R. Zaccarioto, F. N. Mitsuuchi, S. A. C. Pereira 

Filho, R. P. C. Lira, I. Meyer, M. A. C. Bezerra, K. Y. Fertrin, 

F. F. Costa, M. B. Melo. 

2752W X-linked CHARGE-like Abruzzo-Erickson 

syndrome and classic cleft palate with ankyloglossia 

result from, i>TBX22 splicing mutations. P. Stanier, E. 

Pauws, E. Peskett, C. Boissin, K. Mengrelis, E. Carta, M. 

A. Abruzzo, M. Lees, G. E. Moore, R. P. Erickson. 

2753T Enlarged vestibular aqueduct syndrome: 

Characterization of three new mutations. E. Prera, S. 

Arndt, A. Aschendorff, R. Birkenhäger. 

2754F A novel molecular basis for Carpenter 

syndrome. S. Movva, U. Kotecha, R. Puri, I. C. Verma. 

2755W De novo activating mutations in 

phosphatidylserine synthase 1 cause a rare mental 

retardation-multiple congenital anomalies syndrome. 

S. B. Sousa, D. Jenkins, E. Chanudet, A. Barnicoat, 

K. Chrzanowska, J. Sá, J. Saraiva, R. Scott, D. 

Wattanasirichaigoon, G. Anderson, G. Tasseva, J. Vance, 

P. Beales, G. E. Moore. 

2756T Exome sequencing of a consanguineous 

Palestinian kindred with syndromic cleft palate. H. 

Shahin, U. Sharaha, M. Lee, S. Saed, J. van Aalst, M. C. 

King, T. Walsh. 

2757F Mutations in the DOCK6 gene in Adams-Oliver 

syndrome. W. Wuyts, A. Laureys, E. Van Hul, M. De 

Smedt, K. Storm, N. Van der Aa. 

2758W Novel mutations of the FGD1 gene in 16 

patients with Aarskog-Scott syndrome. T. Kaname, 

K. Yanagi, N. Okamoto, K. Kurosawa, Y. Izumikawa, 

Y. Fukushima, Y. Makita, M. Tsukahara, A. Altincik, S. 

Mizuno, K. Naritomi. 

2759T Exome sequencing identifies an IFIH1 mutation 

causing Singleton-Merten syndrome by dysregulation 

of the innate immune response. F. Rutsch, M. 

MacDougall, C. Lu, Y. Nitschke, I. Buers, O. Mamaeva, D. 

K. Crossman, J. Dong, C. Müller, H. G. Kehl, J. Kleinheinz, 

P. Barth, K. Barczyk, D. Bazin, J. Altmüller, H. Thiele, P. 

Nürnberg, W. Höhne, A. S. Feigenbaum, R. Hennekam. 

2760F Mutations in PVRL1 and PVRL4 genes define 

nectinopathies as developmental field disorders of 

ectodermal derivatives and cutaneous syndactyly with 

or without cleft lip/palate. E. Agolini, P. Fortugno, L. 

B. Ousager, A. Bygum, L. Graul-Neumann, K. Stieler, A. 

Kuechler, G. Zambruno, F. Brancati. 


2761W ELN mutations in autosomal dominant cutis 

laxa. E. Lawrence, M. McGowan, C. Su, M. Mac Neal, K. 

Levine, A. Zaenglein, M. Bodzioch, A. Kiss, Z. Urban. 

2762T RIPK4 mutations explain a portion of IRF6negative 

popliteal pterygium cases. E. J. Leslie, S. 

Goudy, M. Cunningham, J. C. Murray. 

2763F Sacsin-related ataxia caused by the novel 

missense mutation Arg272His in a patient from 

Southern Italy. F. Cavalcanti, A. Nicoletti, G. Annesi, P. 

Tarantino, M. Gagliardi, G. Mostile, V. Dibilio, A. Quattrone, 

A. Gambardella, M. Zappia. 

2764W SCA36 molecular analysis in patients with 

spinocerebellar ataxia. D. Di Bella, E. Sarto, C. Mariotti, 

C. Gellera, S. Magri, F. Taroni. 

2765T Germline CAG repeat instability causes 

extreme CAG repeat expansion with infantile onset 

of spinocerebellar ataxia type 2 in offspring. J. Ek, T. 

Vinther-Jensen, M. Dunoe, F. Skovby, L. E. Hjermind, J. E. 

Nielsen, T. T. Nielsen. 

2766F Genetic aspects of Dravet syndrome in southern 

Italy. M. Gagliardi, P. Tarantino, F. Cavalcanti, M. Sesta, P. 

Conti, D. Galeone, G. Tortorella, A. Labate, M. Caracciolo, T. 

Mirante, A. Bagal‡, A. Quattrone, A. Gambardella, G. Annesi. 

2767W Vacuolar-type H � -ATPase V1A subunit is a 

molecular partner of Wolfram syndrome 1 protein, 

which regulates its stability and expression. S. 

Gharanei, M. Zatyka, D. Astuti, J. Fenton, E. Rabai, A. Sik, 

Z. Nagy, T. Barrett. 

2768T Altered expression of carbonic anhydraserelated 

protein XI in neuronal cells expressing mutant 

ataxin-3. M. Hsieh, W. H. Chang, C. F. Hsu, C. L. Kuo, I. 

Nishimori, T. Minakuchi, N. Nukina. 

2769F Alterations in RNA splicing underlie 

development of ataxia in SCA1 mice. M. A. C. Ingram, P. 

Bergmann, H. Kang, H. Y. Zoghbi, H. T. Orr. 

2770W Clinical spectrum of intragenic CAMTA1 

rearrangements: From non-progressive congenital 

ataxia to intellectual disability. E. Lopez, J. Thevenon, 

B. Keren, D. Heron, C. Mignot, C. Altuzara, M. Béri- 

Dexheimer, C. Bonnet, L. Burglen, D. Minot, J. Vigneron, 

P. Charles, A. Brice, L. Gallagher, J. Amiel, C. Mach, C. 

Depienne, D. Doummar, L. Duplomb, V. Carmignac, P. 

Callier, A.-L. Mosca-Boidron, V. Roze, B. Aral, F. Razavi, P. 

Jonveaux, L. Faivre, C. Thauvin-Robinet. 

2771T Analysis of human mitochondrial aminoacyl-tRNA 

synthetase complexes in patients with MARS2 mutations. 

I. Thiffault, F. Sasarman, T. Nishimura, E. A. Shoubridge. 

2772F Mutations in GPSM2 cause the brain 

malformations and hearing loss of Chudley- 

McCullough syndrome. D. Doherty, A. E. Chudley, G. 

Coghlan, G. E. Ishak, A. M. Innes, E. G. Lemire, R. C. 

Rogers, A. A. Mhanni, I. G. Phelps, S. J. M. Jones, S. H. 

Zhan, A. P. Fejes, H. Shahin, M. Kanaan, H. Akay, M. Tekin, 

B. Triggs-Raine, T. Zelinski, FORGE Canada Consortium. 


POSTER SESSIONS


2773W Thrombospondin genes are required for 

development of normal cochlear function and 

maintenance. M. Mustapha, D. Mendus, V. Sundaresan. 

2774T Lack of the VPS35 Asp620Asn mutation in 

southern Italian patients with familial Parkinson’s 

disease. G. Annesi, M. Gagliardi, P. Tarantino, F. 

Cavalcanti, T. Mirante, M. Caracciolo, A. Bagal‡, A. 

Gambardella, A. Quattrone. 

2775F Ubiquilin 2 mutations in Italian patients with 

amyotrophic lateral sclerosis and frontotemporal 

dementia. C. Gellera, C. Tiloca, R. Del Bo, L. Corrado, V. 

Pensato, J. Agostini, C. Cereda, A. Ratti, B. Castellotti, 

S. Corti, A. Bagarotti, A. Cagnin, P. Milani, C. Gabelli, G. 

Riboldi, L. Mazzini, G. Sorarù, S. D’Alfonso, F. Taroni, G. P. 

Comi, N. Ticozzi, V. Silani. 

2776W Genetics of primary microcephaly in Indian 

families. A. Kumar, V. Bhat, G. Mohan, S. C. Girimaji. 

2777T ZIC1 and ZIC4 deletion at 3q24 is not constantly 

associated to Dandy-Walker malformation. S. Loddo, V. 

Parisi, L. Bernardini, A. Ferraris, A. Capalbo, L. Travaglini, 

G. Zanni, M. L. Di Sabato, S. Tumini, A. Novelli, V. Sabolic, 

E. Bertini, B. Dallapiccola, E. M. Valente. 

2778F A frameshift mutation in the gene encoding 

folliculin-interacting protein 2 associated with 

hypomyelination and tremors in the Weimaraner. P. 

Patel, T. Pemberton, S. Choi, J. Mayer, F.-Y. Li, N. Safra, D. 

Bannasch, K. Sullivan, B. Breuhaus, I. Duncan. 

2779W Familial cortical myoclonus with a mutation 

in NOL3. J. F. Russell, J. L. Steckley, G. Coppola, A. F. 

G. Hahn, M. A. Howard, Z. Kornberg, A. Huang, S. M. 

Mirsattari, B. Merriman, E. Klein, M. Choi, H.-Y. Lee, A. 

Kirk, C. Nelson-Williams, G. Gibson, S. C. Baraban, R. P. 

Lifton, D. H. Geschwind, Y.-H. Fu, L. J. Ptacek. 

2780T Mutations in PRRT2 result in familial infantile 

convulsions with marked variability in clinical 

expression and SUDEP. P. Tarantino, G. Palamara, 

A. Labate, M. Gagliardi, L. Mumoli, E. Ferlazzo, F. 

Cavalcanti, U. Aguglia, G. Incorpora, A. Gambardella, G. 

Annesi. 

2781F Molecular analysis of NIPA1 gene mutations 

in patients with spastic paraplegia. F. Taroni, S. 

Caldarazzo, E. Sarto, M. Plumari, V. Martinelli, D. 

Pareyson, S. Baratta, D. Di Bella. 

2782W Incomplete nonsense-mediated decay 

facilitates detection of a multi-exonic deletion 

mutation in SCGE. J. Xiao, K. Marshall, M. LeDoux. 

2783T Isoform-selective MeCP2-e1 deficient mice 

recapitulate the neurologic defecits of Rett syndrome. 

D. H. Yasui, K. W. Dunaway, M. S. Golub, N. C. Schanen, 

J. M. LaSalle. 

2784F ARHGEF26/SGEF controls arteriosclerosis, 

retinal fovea, immunity and neurodevelopment. P. 

Bitoun, E. Pipiras, B. Benzacken, A. Delahaye. 

2785W Homozygosity mapping and exome sequencing 

in a Saudi-Arabian family with unspecified juvenile 

neurodegeneration. E. Frackelton, P. M. A. Sleiman, L. 

Tien, S. Panossian, K. Xu, B. Tweddale, N. Abdel-Magid, 

C. Kim, Y. Housawi, H. Hakonarson. 

2786T Neuropathology in POL III related disorders: 

Myelin loss in 4H syndrome. A. Vanderver, J. Schmidt, 

G. Carosso, D. Tonduti, G. Bernard, J. Lai, C. Rossi, M. 

Quezado, K. Wong, R. Schiffman. 

2787F Identification of homozygous WFS1 mutations 

(p.Asp211Asn, p.Gln486*) causing severe Wolfram 

syndrome and first report of male fertility. A. Haghighi, 

A. Haghighi, A. Setoodeh, N. Saleh-Gohari, D. Astuti, T. 

G. Barrett. 

2788W Whole exome sequencing in children 

with unclassified, sporadic, early-onset epileptic 

encephalopathies. K. R. Veeramah, L. Johnstone, D. 

Wolf, R. Sprissler, T. M. Karafet, D. Talwar, R. P. Erickson, 

M. F. Hammer. 

2789T Determining the genetic architecture of Joubert 

syndrome. D. O’Day, B. J. O’Roak, I. G. Phelps, J. C. 

Dempsey, I. Glass, H. C. Mefford, J. Shendure, D. Doherty. 

2790F Genetics of Joubert syndrome in the French 

Candian population. M. Srour, J. Schwartzentruber, F. F. 

Hamdan, L. H. Ospina, L. Patry, D. Labuda, C. Massicotte, 

S. Dobrzeniecka, J.-M. Capo-Chichi, S. Papillon- 

Cavanagh, M. E. Samuels, K. M. Boycott, M. I. Shevell, 

R. Laframboise, V. Désilets, D. Amron, E. Andermann, 

G. Sebire, B. Maranda, G. A. Rouleau, J. Majewski, J. L. 

Michaud, FORGE Canada Consortium. 

2791W Mechanisms underlying non-recurrent 

microdeletions causing neurofibromatosis type-1. J. 

Vogt, K. Bengesser, K. Claes, K. Wimmer, L. Messiaen, L. 

Kluwe, V.-F. Mautner, H. Kehrer-Sawatzki. 

2792T The DYRK1A gene is a rare cause of Angelmanlike 

syndrome with severe microcephaly and epilepsy. 

J.-B. Courcet, E. Lopez, J. Thevenon, N. Gigot, L. Jego, 

C. Ragon, A. Masurel-Paulet, P. Callier, N. Marle, A.-L. 

Mosca-Boidron, F. Huet, C. Philippe, L. Lambert, P. 

Malzac, L. Faivre, A. Moncla, C. Thauvin-Robinet. 

2793F Exome sequencing reveals cause of 

hypomyelinating leukodystrophy. D. L. Dinwiddie, N. A. 

Miller, C. J. Saunders, S. E. Soden, G. M. Hobson, S. F. 

Kingsmore. 

2794W Intractable epilepsy and tau protein pathology 

in a child with a defect in the synaptic vesicle recycling 

pathway. D. A. Dyment, A. Smith, P. Humphreys, J. 

Woulfe, FORGE Canada Consortium, D. E. Bulman, J. 

Schwartzentruber, J. Majewski, J. Michaud, K. M. Boycott. 

2795T Novel CDKL5 splicing variant in a boy with earlyonset 

seizures. R. Polli, G. Ho, E. Leonardi, E. Bettella, E. 

Fontana, B. Dalla Bernardina, J. Christodoulou, A. Murgia. 


2796F The molecular role of GTF2IRD1, a protein 

implicated in the neurodevelopmental features of 

Williams-Beuren syndrome. P. Carmona-Mora, J. 

Widagdo, K. M. Taylor, R. Tsz-Wai Pang, P. W. Gunning, E. 

C. Hardeman, S. J. Palmer. 

2797W Contribution of POLR3A and POLR3B recessive 

mutations to hypomyelinating leucodystrophy. H. 

Daoud, M. Tétreault, K. Choquet, W. Gibson, M. Synofzik, 

B. Brais, A. Vanderver, G. Bernard. 

2798T Identification of disease causing mutations in 

the serine/threonine kinase VRK1 gene in two siblings 

with primary microcephaly, neuropathy and spinal 

muscular atrophy. C. Gonzaga-Jauregui, W. Wiszniewski, 

J. Reid, D. Muzny, R. A. Gibbs, J. R. Lupski, Baylor- 

Hopkins Center for Mendelian Genomics. 

2799F Molecular screening of patients with CMT2 

disease. G. Bergamin, C. Briani, E. Pegoraro, A. 

Martinuzzi, E. Battiston, F. Boaretto, M. L. Mostacciuolo. 

2800W Novel autosomal recessive syndrome 

characterized by manganese deficiency, cerebellar 

atrophy, skeletal dysplasia, and cognitive impairment 

caused by mutation in SLC39A8. C. L. Beaulieu, M. 

Galvez-Peralta, D. Redl, L. Huang, E. G. Puffenberger, 

S. C. Hampson, A. E. Chudley, J. N. Scott, R. A. Hegele, 

D. R. McLeod, A. E. MacKenzie, D. E. Bulman, J. S. 

Parboosingh, D. W. Nebert, A. .M. Innes, K. M. Boycott, 

FORGE Canada Consortium. 

2801T GNAL is a new causative gene for primary 

dystonia. T. Fuchs, R. Saunders-Pullman, I. Masuho, M. San 

Luciano, D. Raymond, S. White, E. Ainehsazan, N. Sharma, 

M. E. Ehrlich, K. Martemyanov, S. B. Bressman, L. J. Ozelius. 

2802F Analysis of Aicardi syndrome genome using 

array CGH and exome sequencing. W. Liu, M. 

Bainbridge, A. Balasa, X. Wang, D. Murdock, R. Gibbs, I. 

B. Van den Veyver. 

2803W Molecular analysis for Gaucher, Tay-Sach’s and 

Sandhoff disease in Indian patients. J. J. Sheth, M. A. 

Mistri, C. M. Ankleshwaria, P. Tamhankar, A. Bavdekar, CA. 

Datar, M. Kamate, S. Gupta, F. J. Sheth. 

2804T Progress and challenges in elucidating the 

molecular genetic basis of cluster headache. L. 

Southgate, S. Scollen, W. He, A. Moss, M. A. Simpson, 

B. Zhang, L. Xi, T. Schlitt, M. Weale, C. L. Hyde, J. C. 

Stephens, C. Sjöstrand, M. B. Russell, M. Leone, S. L. 

John, R. C. Trembath. 

2805F Japanese Chin dogs with GM2 gangliosidosis are 

homozygous for a HEXA missense mutation and are a 

potential large animal model for Tay-Sachs disease. D. 

Gilliam, A. C. Freeman, D. N. Sanders, R. Zeng, D. A. Wenger, 

G. S. Johnson, M. L. Katz, M. Vandenberg, S. Holmes, M. 

Kent, R. Rech, E. Howerth, S. R. Platt, D. P. O’Brien. 

2806W Identification of novel X-linked intellectual 

disability genes by human X chromosome exome 

sequencing. T. Wang, T. Niranjan, C. Skinner, M. May, L. 

Holloway, C. Schwartz. 


2807T Genetic studies to gain insight into the function 

of the MeCP2 domains in vivo. L. Heckman, H. Zoghbi. 

2808F Combination of linkage analysis and exome 

sequencing identifies a novel form of autosomal 

recessive syndromic intellectual deficiency linked to DNA 

damage response defect. M. Langouet, A. Saadi, C. Bole- 

Feysot, P. Nitschke, A. Munnich, M. Chaouch, L. Colleaux. 

2809W Neuronal cells generated through differentiation 

of stem cells isolated from patient’s skin recapitulate 

the main features of Niemann Pick C disease. A. 

Dardis, N. Bergamin, D. Cesselli, S. Zampieri, B. Bembi, A. 

Beltrami, C. A. Beltrami. 

2810T Severely impaired respiratory chain causes 

multisystem apoptosis-driven developmental defects, a 

new mitochondrial phenotype in vertebrates. A. Indrieri, 

V. van Rahden, V. Tiranti, I. Conte, J. Quartararo, M. Morleo, 

D. Iaconis, R. Tammaro, G. Chesi, M. Cermola, R. Tatè, I. 

Maystadt, S. Demuth, A. Zvulunov, I. D’Amato, P. Goffrini, I. 

Ferrero, P. Bovolenta, K. Kutsche, M. Zeviani, B. Franco. 

2811F Whole exome sequencing reveals novel and 

known genes mutations in a cohort of centronuclear 

myopathy patients. P. Agrawal, O. Ceyhan, K. Schmitz, E. 

Dechene, M. Viola, K. Markianos, A. Beggs. 

2812W Mutations in the human isoprenoid synthase 

domain containing gene are a common cause of 

congenital and limb girdle muscular dystrophies. S. 

Cirak, A. R. Foley, R. Herrmann, T. Willer, M. Yau, S. Torelli, 

P. Vondracek, R. Helen, C. Longman, R. Korinthenberg, G. 

Marruso, P. Nürnberg, UK10K Consortium, V. Plagnol, M. 

Hurles, C. Sewry, K. P. Campbell, T. Voit, F. Muntoni. 

2813T Prevalence of MECP2 mutations among girls 

presenting significant clinical overlap between Rett 

and Angelman syndromes. T. M. R. de Assis, G. A. 

Molfetta, C. A. Ferreira, C. H. P. Grangeiro, W. A. Silva, Jr. 

2814F Identification of six novel NF1 mutations in 

neurofibromatosis type 1 patients from the Azorean 

island of São Miguel (Portugal). L. Mota-Vieira, B. Campos, 

R. Cabral, A. L. Rodrigues, A. Raposo, A. Carvalho. 

2815W A pan-European study of the pathological 

C9orf72 hexanucleotide (G4C2) expansion 

associated with frontotemporal lobar degeneration 

and amyotrophic lateral sclerosis. J. van der Zee, I. 

Gijselinck, L. Dillen, T. Van Langenhove, M. Cruts, C. 

Van Broeckhoven, Belgian Neurology Consortium and 

European Early-Onset Dementia Consortium. 

2816T Identification of novel ALS genes using linkage 

analysis and next-gen sequencing. K. L. Williams, J. 

A. Solski, J. C. Durnall, A. D. Thoeng, S. Warraich, G. 

Rouleau, G. A. Nicholson, I. P. Blair. 

2817F The distributions of two SOD1 missense 

mutations in the pet dog population and their 

association with canine degenerative myelopathy, a 

model for amyotrophic lateral sclerosis. R. Zeng, J. R. 

Coates, L. Hansen, G. C. Johnson, F. A. Wininger, M. L. 

Katz, G. S. Johnson. 


POSTER SESSIONS


2818W Explore the impact of parkin mutations in ERassociated 

protein degradation: Cellular models for 

juvenile PD. M. Alves-Ferreira, S. Morais, J. Sequeiros, I. 

Alonso. 

2819T A nonsense mutation in DHTKD1 causes 

Charcot-Marie-Tooth disease type 2 in a large Chinese 

pedigree. M. Gu, W. Xu, L. Sun, W. Guo, J. Ma, S. Chen, 

W. Huang, Z. Wang. 

2820F Identification of the SPG46 gene by nextgeneration 

sequencing in four families with autosomal 

recessive complicated spastic paraplegia. G. Stevanin, 

R. Schüle, K. Smets, E. Martin, S. Zuchner, L. J. Loureiro, 

A. Boukhris, A. Rastetter, T. de Coninck, M. Gonzalez, E. 

Mundwiller, F. Lamari, G. Gyapay, P. Coutinho, C. Mhiri, P. 

de Jongue, E. Kabashi, A. Brice. 

2821W A balanced (1q32;14q31) translocation 

associated with epilepsy, learning disability and 

leukemia has breakpoints in developmental genes as 

detected by whole-genome sequencing. M. I. Rees, S. 

Ali, R. H. Thomas, J. G. Mullins, M. Kerr, S. K. Chung. 

2822T A DYNC1H1 mutation causes a quadricepsdominant 

neurogenic muscular atrophy. S. Saitoh, Y. 

Tsurusaki, K. Tomizawa, A. Sudo, N. Asahina, H. Shiraishi, J. 

Ito, H. Tanaka, H. Doi, H. Saitsu, N. Miyake, N. Matsumoto. 

2823F Late-onset Charcot-Marie-Tooth disease 4F 

caused by periaxin gene mutation. S. Tokunaga, A. 

Hashiguchi, A. Yoshimura, K. Maeda, T. Suzuki, H. Haruki, 

T. Nakamura, H. Takashima. 

2824W Detection of slipped-DNAs at the trinucleotide 

repeats of the myotonic dystrophy type I disease locus 

in patient tissues. M. M. Axford, Y.-H. Wang, M. Nakamori, 

M. Zannis-Hadjopoulos, C. Thornton, C. E. Pearson. 

2825T A lyonization study in heterozygous females 

for X-linked adrenoleukodystrophy. F. S. Pereira, C. 

Habekost, U. Matte, L. B. Jardim. 

2826F Mutations in CUL4B, a member of the Cullin- 

RING ubiquitin ligase complex, cause syndromic 

X-linked intellectual disability associated with short 

stature. A. K. Srivastava, M. Cook, K. Corrier, L. Lee, S. S. 

Cathey, F. Bartel, K. R. Holden, C. Skinner, A. D. Chaubey, 

B. R. DuPont, N. VerBerkmoes, R. J. Schroer. 

2827W Identification of novel exon splice enhancers 

in the growth hormone gene (GH1) mutated in isolated 

GH deficiency. D. Babu, I. Fusco, S. Mellone, M. Godi, A. 

Petri, F. Prodam, S. Bellone, P. Momigliano-Richiardi, G. 

Bona, M. Giordano. 

2828T Functional analysis of R75Q dominant mutation 

and in cis recessive mutation V37I of GJB2 gene 

causing hearing loss in a Korean family. J. Kim, J. Jung, 

Y. Kim, J. Choi, K. Lee. 

2829F Progressive hearing impairment with 

homozygous deletion in GJB2 gene (Connexin-26) and 

normal newborn hearing screening. N. Lublinghoff, E. 

Löhle, R. Birkenhäger. 

2830W Bestrophin mutation within Ca 2� binding domain 

alters Cl � conductance. S. Brar, B. Pattnaik, P. Halbach, 

S. Tokarz, D. Pillers. 

2831T Functional characterization of SLC2A9 allelic 

variants in Czech population. B. Stiburkova, O. Hurba, V. 

Krylov, A. Mencikova. 

2832F Identification of a missense mutation outside 

the forkhead domain of FOXL2 causing a severe form 

of BPES type II. H. Haghighi-Kakhki, A. Haghighi, H. 

Verdin, N. Piri, N. Saleh-Gohari, E. De Baere. 

2833W The UBIAD1 prenyltransferase links 

menaquione-4 synthesis to cholesterol metabolic 

enzymes. M. Nickerson, A. Bosley, J. Weiss, B. Kostiha, 

W. Brandt, T. Andresson, T. Okano, M. Dean. 

2834T Intergenic or 5’UTR deletion of transcription factor 

4 (TCF4) gene in Pitt-Hopkins syndrome. J. Lee, S.-U. 

Moon, E. Shin, S. Hassed, J. Chanloner, X. Wang, S. Li. 

2835F No evidence of genetic difference for clinical 

severity between monozygotic twins with Rett 

syndrome. T. Kubota, K. Miyake, T. Hirasawa, Y. 

Minakuchi, A. Toyoada. 

2836W Two-nucleotide deletion of the ATP7A gene, 

leading not to premature termination, but to translation 

reinitiation, produces mild phenotype in a male 

Menkes disease patient. T. Wada, T. Murakami, H. 

Shimbo, H. Osaka, H. Kodama. 

2837T Retinoic acid induced 1, RAI1: Molecular and 

functional studies to understand its relationship to 

neurobehavioral alterations. K. Walz, I. C. Perez, P. 

Carmona-Mora, C. Abad, C. P. Canales, L. Cao, A. K. 

Srivastava, J. I. Young. 

2838F RAB11FIP1 interacts with the BLOC-1 complex 

to retrieve melanogenic proteins from the recycling 

pathway and a dominant negative mutation in 

RAB11FIP1 causes Hermanksy-Pudlak syndrome type 

10. A. R. Cullinane, J. Pan, M. A. Merideth, J. A. Curry, J. 

G. White, M. Huizing, W. A. Gahl. 

2839W Two novel RRM2B gene mutations in a patient 

with autosomal recessive progressive external 

ophthalmoplegia, encephalopathy and cytochrome c 

oxidase deficiency. N. S. Hauser, R. Bai. 

2840T Isogenic D4Z4 contracted and non-contracted 

immortal muscle cell clones as a model for FSHD. S. 

van der Maarel, Y. Krom, J. Dumonceaux, K. Mamchoui, 

B. den Hamer, V. Mariot, E. Negroni, L. Geng, R. Tawil, S. 

Tapscott, B. van Engelen, V. Mouly, G. Butler-Browne. 

2841F MEFV second exon variation analysis in familial 

Mediterranean fever. A. K. Kirectepe, G. Celikyapi Erdem, 

O. Kasapcopur, E. Tahir Turanli. 

2842W Role of NLRP7 in recurrent hydatidiform moles 

and reproductive wastage. R. Slim, C. Messaed, E. 

Akoury, W. Chebaro, W. Buckett, J. Arseneau, P. Sauthier. 


2843T A novel GUCY2D mutation, V933A, causes 

central areolar choroidal dystrophy. A. E. Hughes, W. 

Meng, A. J. Lotery, D. T. Bradley. 

2844F Novel splice site mutations in NPHS1 gene in 

Indian congenital nephrotic syndrome patients. S. 

Sharma, A. Bagga, M. Kabra. 

2845W Genetic basis of prune belly syndrome: 

Screening the candidate genes. L. Baker, S. Harrison, C. 

Granberg, C. Villanueva. 

2846T DNA copy-number variations in persistent 

cloaca patients. S. Harrison, L. Baker. 

2847F Whole genome sequencing reveals a deletion 

of the last exon of FAN1 in Basenji dogs with adultonset 

Fanconi syndrome. G. S. Johnson, F. H. Farias, 

T. Mhlanga-Mutangadura, J. F. Taylor, D. P. O’Brien, R. D. 

Schnabel. 

2848W Formation of a novel N-glycosylation motif in 

integrin �3 due to a rare ITGA3 gene polymorphism 

causes congenital nephrotic syndrome and interstitial 

lung disease. K. Y. Renkema, N. Nicolaou, C. Margadant, 

S. H. Kevelam, M. R. Lilien, M. J. S. Oosterveld, M. Kreft, 

A. M. van Eerde, R. Pfundt, P. A. Terhal, B. van der Zwaag, 

N. Sachs, R. Goldschmeding, N. V. A. M. Knoers, A. 

Sonnenberg. 

2849T Defining the phenotypic specificity of Schimke 

immuno-osseous dysplasia. M. Morimoto, C. Myung, 

K. Beirnes, D. Leung, H. K. Fam, K. Choi, Y. Huang, C. F. 

Boerkoel. 

2850F High-throughput mutation analysis in patients 

with a nephronophthisis-associated ciliopathy applying 

multiplexed barcoded array-based PCR amplification 

and next-generation sequencing. E. A. Otto, J. Halbritter, 

K. Diaz, B. Tarrier, M. Chaki, C. Fu, J. L. Innis, S. J. Allen, 

R. H. Lyons, C. J. Stefanidis, H. Omran, N. A. Soliman. 

2851W Founder mutation in RPSPH4A identified in 

patients of Hispanic descent with primary ciliary 

dyskinesia. M. A. Zariwala, M. W. Leigh, S. D. Davis, M. 

C. Armstrong, M. L. Daniels, J. L. Carson, M. Hazucha, S. 

S. Dell, M. R. Knowles, Genetic Disorders of Mucociliary 

Clearance Consortium. 

2852T Leri’s pleonosteosis results from defective 

SMAD signaling. S. Banka, S. Cain, J. Urquhart, S. Carim, 

S. Daly, G. Erdem, M. Bottomley, D. Donnai, B. Kerr, H. 

Kingston, C. Kielty, W. G. Newman. 

2853F Abnormal type I collagen folding and matrix 

deposition in a cyclophilin B KO mouse model of 

recessive osteogenesis imperfecta. W. A. Cabral, E. 

Makareeva, M. Weis, S. Leikin, D. R. Eyre, J. C. Marini. 

2854W Differential contributions of P3H1 to collagen 

processing in the pathogenesis of osteogenesis 

imperfecta. E. P. Homan, C. Lietman, I. Grafe, J. 

Lennington, R. Morello, W. R. Hogue, D. Napierala, M. 

M. Jiang, B. Dawson, T. K. Bertin, Y. Chen, R. Lua, O. 

Lichtarge, J. Hicks, M. A. Weis, D. R. Eyre, B. Lee. 


2855T Characterization of transient receptor potential 

vanilloid channel 4 in metatropic dysplasia primary cell 

lines. L. M. Hurd, S. M. Kirwin, K. M. Vinette, M. B. Bober, 

W. G. Mackenzie, R. L. Duncan, V. L. Funanage. 

2856F Exome sequencing identifies a de novo 

missense mutation in TGF-b1 in a sporadic patient 

with craniotubular bone dysplasia. D. Li, A. Haghighi, 

F. Salehzade, L. Tian, H. Haghighi-Kakhki, C. Kim, E. 

Frackelton, F. Otieno, H.-D. Nah, H. Hakonarson. 

2857W An intracellular role for FGFR2 in bent 

bone dysplasia syndrome. C. L. Neben, B. Idoni, A. 

Sarukhanov, D. Krakow, A. E. Merrill. 

2858T ZDHHC13 is a key regulator in postnatal 

epiphyseal development. I. W. Song, W. R. Li, J. Y. Wu, 

M. T. Lee, Y. T. Chen. 

2859F Identification of novel genes downstream of 

FGFR2 contributing to coronal suture synostosis in 

a murine model for Crouzon syndrome. S. Kumar, E. 

Peskett, J. A. Britto, E. Pauws. 

2860W Identification of copy number variants in 

413 isolated talipes equinovarus patients: role of 

transcriptional regulators of limb development. D. M. 

Alvarado, J. G. Buchan, S. L. Frick, J. E. Herzenberg, M. 

B. Dobbs, C. A. Gurnett. 

2861T Mutation of B3GAT3 causes skeletal dysplasia 

in a consanguineous clan from Nias. B. S. Budde, S. 

Mizumoto, R. Kogawa, C. Becker, J. Altmüller, H. Thiele, 

P. Frommolt, M. R. Toliat, J. M. Hämmerle, W. Höhne, K. 

Sugahar, P. Nürnberg, I. Kennerknecht. 

2862F Mutation analysis of the BIN1 gene performed 

to evaluate the cause of centronuclear myopathy in 

two fetuses of consanguineous parents from Sudan. N. 

Dohrn, A. Petersen, P. Skovbo, I. S. Pedersen, A. Ernst, H. 

Krarup, M. B. Petersen. 

2863W Novel ROR2 mutations in patients with autosomal 

recessive Robinow syndrome. J. Mazzeu, H. Kayserilli, 

C. A. Kim, D. Brunoni, P. C. Pieri, A. Richieri-Costa, H. van 

Bokhoven, H. G. Brunner, A. M. Vianna-Morgante. 

2864T Whole exome sequencing identifies mutations 

in the nucleoside transporter gene SLC29A3 in 

dysosteosclerosis, a form of osteopetrosis. P. Campeau, 

J. T. Lu, G. Sule, M.-M. Jiang, Y. Bae, S. Madan, W. Högler, 

N. J. Shaw, S. Mumm, R. A. Gibbs, M. P. Whyte, B. H. Lee. 

2865F Polymorphisms in osteoporosis and their 

associations with bone metabolism. R. Richterová, P. 

Cibulková, A. Bóday, D. Stejskal, P. Novosad, P. Fojtík, P. 

Hrdý. 

2866W Combination of whole-genone cytogenetics 

array, high-throughput SNP genotyping, homozygosity 

mapping and Sanger sequencing identify FXN gene 

expansion leading to axonal peripheral neuropathy and 

ataxia phenotype in two consanguineous families from 

North West Africa. H. Azzedine, B. Hubert, W. Amer, F. 

Ferrat, M. Chaouch, F. Lagace, R. Fetni, C. Paisan-Ruiz. 


POSTER SESSIONS


2867T Exome sequencing in small families segregating 

autosomal dominant non-syndromic hearing loss. H. 

Azaiez, E. Shearer, K. Booth, M. Hildebrand, N. Meyer, R. 

J. H. Smith. 

2868F Application of massive parallel sequencing for 

mutation discovery and genetic diagnosis of hereditary 

hearing loss in Chinese DFNA families. H. Yuan, J. 

Cheng, Y. Lu, X. Zhou, X. Zhang, R. Choy. 

2869W A new gene for autosomal recessive 

congenital ichthyosis identified by exome sequencing 

demonstrates impact of ceramide synthesis and acyl 

chain length for keratinocyte terminal differentiation. K. 

Eckl, R. Tidhar, M. L. Preil, H. Thiele, I. Hausser, V. Oji, A. 

Önal-Akan, S. Brodesser, F. Stock, R. Casper, J. Altmüller, 

P. Nürnberg, H. Traupe, A. H. Futerman, H. C. Hennies. 

2870T The NIH Undiagnosed Diseases Program: 

Defining pathogenicity for personalized medicine. C. 

F. Boerkoel III, M. C. Malicdan, D. Adams, C. Toro, C. Tifft, 

W. A. Gahl, T. Markello. 

2871F Efficient search for allelically heterogeneous 

disease genes in whole genome or exome datasets. K. 

D’Aco, M. A. Aquino, N. M. Pearson. 

2872W From large-scale clinical recruitment to 

identification of a novel mutation in ADAMTSL2 in a 

family with Ehler-Danlos syndrome. A. S. Desai, D. 

Hadley, L. Tian, C. Kim, E. Frackelton, R. Chiavacci, F. G. 

Otieno, F. Mentch, H. Hakonarson, K. Wang, S. Pannosian. 

2873T Exome sequencing for the knowledgedriven 

and unbiased disease-mutation search of 

mitochondrial respiratory chain disorder. M. Kohda, Y. 

Tokuzawa, Y. Moriyama, H. Kato, N. Uehara, Y. Nakachi, 

N. Matoba, S. Tamaru, Y. Kishita, T. Yamazaki, M. Mori, K. 

Murayama, Y. Mizuno, A. Ohtake, Y. Okazaki. 

2874F Exome sequencing for disease gene discovery 

in Jeune’s asphyxiating thoracic dystrophy. P. Taylor, S. 

Wu, S. F. Nelson, D. H. Cohn, D. Krakow. 

2875W Seeking causative genes for human congenital 

general anosmia in multiply-affected Israeli families. 

A. Alkelai, T. Olender, D. Oz-Levi, I. Keydar, R. Milgrom, E. 

Feldmesser, E. Ben-Asher, E. K. Ruzzo, D. B. Goldstein, E. 

Pras, D. Lancet. 

2876T Studying a locus for bilateral congenital 

perisylvian polymicrogyria: Linkage analysis, 

cytoscan HD array and target enrichment/sequencing 

approaches. F. R. Torres, S. S. Tsuneda, E. H. Yamamoto, 

R. Secolin, M. G. Borges, W. T. S. T. Ide, C. S. Rocha, F. M. 

Artiguenave, F. Cendes, M. Guerreiro, I. Lopes-Cendes. 

2877F Targeted exome sequencing for molecular 

diagnostics of heterogeneous genetic disorders: 

Primary ciliary dyskinesia. J.-L. Blouin, J. Bevillard, 

M. Guipponi, C. Gehrig, A. Vannier, F. Santoni, S. E. 

Antonarakis, F. Fellmann, S. Fokstuen, R. Lazor. 

2878W Mutations affecting components of the 

SWI/SNF complex cause Coffin-Siris syndrome. N. 

Matsumoto, Y. Tsurusaki, N. Miyake. 

2879T Identifying mutations causing atypical progeria 

by exome sequencing and CNV analysis. K. M. 

McSweeney, L. B. Gordon, J. Xu, W. Ping, M. F. Arlt, J. Li, 

T. Glover. 

2880F Diagnostic sequencing applications using the Ion 

Torrent. D. Muzny, X. Wang, C. Buhay, M. Wang, H. Dinh, J. 

Reid, D. Wheeler, L. Lotta, E. Boerwinkle, R. Gibbs. 

2881W Next-generation sequencing reveals an allelic 

variant of GLI2 in a Turkish pedigree with a unique 

clinical phenotype. D. Pehlivan, A. Yesilyurt, C. G. 

Gonzaga-Jauregui, E. Karaca, Y. Pehlivan, S. Guran, R. A. 

Gibbs, J. R. Lupski. 

2882T Rapid and efficient mutation detection in 

the hundreds of target genes by bench-top next 

generation sequencer with custom target capture 

method. A. Shimizu, C. Torii, N. Suzuki, H. Mutai, J. 

Kudoh, R. Kosaki, T. Matsunaga, K. Kosaki. 

2883F Identification of candidate genes associated 

with autosomal dominant pulmonary fibrosis by wholeexome 

sequencing. W. Wiszniewski, C. G. Gonzaga- 

Jauregui, T. J. Vece, D. M. Muzny, M. N. Bainbridge, J. G. 

Reid, R. A. Gibbs, J. R. Lupski, Baylor-Hopkins Center for 

Mendelian Genomics. 

2884W Family matters: Exome sequencing can identify 

causal variants in isolated probands through familybased 

studies. H. Yu, C. R. Coughlin, E. A. Geiger, M. 

Friederich, L. Medne, J. E. Ming, E. H. Zackai, J. L. Van 

Hove, X. Gai, G. H. Scharer, T. H. Shaikh. 

2885T Whole exomic triangulation and systems biology 

identify novel pathogenic substrates for autosomal 

dominant long QT syndrome. N. J. Boczek, D. J. Tester, 

J. R. Giudicessi, T. J. Kamp, M. J. Ackerman. 

2886F X-exome sequencing identifies the 

causal variant in a large pedigree with X-linked 

intellectual disability, truncal obesity, gynecomastia, 

hypogonadism and unusual face. J. K. P. van Amstel, M. 

Harakalova, M. J. van den Boogaard, R. J. Sinke, S. van 

Lieshout, M. van Tuil, K. Duran, I. Renkens, P. A. Terhal, 

C. G. F. de Kovel, I. J. Nijman, M. M. van Haelst, N. V. A. 

M. Knoers, G. van Haaften, W. P. Kloosterman, R. C. M. 

Hennekam, E. Cuppen. 

2887W Completing the BBS jigsaw by exome 

sequencing and phenotype-genotype correlations: 

LZTFL1, a BBSome-related gene associated with 

developmental features is BBS17. H. Dollfus, F. Stutzman, 

M. Gerard, A. Verioes, E. Schaefer, C. Stoetzel, V. Marion. 

2888T Simultaneous identification of single nucleotide 

mutations and DNA copy number aberrations in 

neurodevelopmental disorders by exome sequencing. 

A.-M. Sulonen, H. Almusa, H. Edgren, P. Ellonen, L. 

Forsstrom, T. Linnankivi, S. Knuutila, J. Saarela. 

2889F USP9X mutation in a child with developmental 

delay and multiple congenital anomalies. M. S. Brett, A. 

H. M. Lai, E. C. P. Lim, J. R. McPherson, B. W. M. Cham, 

Z. J. Zang, P. Tan, S. Rozen, E. C. Tan. 


2890W Congenital cataracts, hypomyelination, 

progressive microcephaly, digital anomalies: A new 

recessive syndrome due to mutations in a nucleoporin 

gene? E. Geraghty, G. Carvill, I. Glass, R. Kapur, D. 

Doherty, H. Mefford. 

2891T Trio-exome sequencing identifies mutations 

of the gene encoding the histone acetyltransferase 

KAT6B/MYST4 in individuals with the Young-Simpson 

syndrome. K. Kurosawa, K. Enomoto, T. Kondoh, 

S. Mizuno, M. Adachi, K. Muroya, Y. Yamanouchi, T. 

Nishikawa, N. Furuya, M. Tominaga, T. Naruto, K. Ida, Y. 

Kuroda, T. Sengstag, R. Manabe, M. Masuno. 

2892F Exome sequencing identifies a missense 

mutation of ANKRD26 in autosomal dominant 

thrombocytopenia. C. Kim, P. M. A. Sleiman, L. Tien, 

S. Panossian, K. Xu, B. Tweddale, N. Abdel-Magid, E. 

Frackelton, Y. Housawi, H. Hakonarson. 

2893W Holoprosencephaly: Identification of new 

candidate genes by high throughput sequencing of 

family trios. V. David, C. Dubourg, M. de Tayrac, V. Dupé, 

M. Aubry, L. Ratié, S. Mercier, J. Mosser, S. Odent. 

2894T Exome sequencing reveals a novel de novo 

GNAS gene mutation in a boy with usual presentation 

of pseudohypoparathroidism. M. J. Dasouki, S. E. 

Soden, E. G. Farrow, C. J. Saunders, D. L. Dinwiddie, N. A. 

Miller, S. F. Kingsmore. 

2895F Clinical diagnostic exome identifies novel 

mutations in the C20orf7 gene, a mitochondrial 

complex I assembly factor, in a Taiwanese infant with 

Leigh’s disease. J. J. Wei, K. D. Gonzalez, X. Li, H. M. Lu, 

H. Lu, R. Chang, R. Wang, J. Abdenur, W. Zeng. 

2896W De novo mutations in MLL cause Wiedemann- 

Steiner syndrome. W. D. Jones, D. Dafou, M. McEntagart, 

W. J. Woollard, F. V. Elmslie, M. Holder-Espinasse, M. 

Irving, M. Lees, A. K. Saggar, S. Smithson, R. C. Trembath, 

C. Deshpande, M. A. Simpson. 

2897T Targeted resequencing of known and candidate 

epilepsy genes in 500 patients with epileptic 

encephalopathies. G. Carvill, B. J. O’Roak, S. C. Yendle, 

J. Cook, N. Krumm, S. F. Berkovic, J. Shendure, I. E. 

Scheffer, H. C. Mefford. 

2898F Deciphering the genetic basis of progressive 

myoclonus epilepsies by exome sequencing. M. 

Muona, S. F. Berkovic, L. Dibbens, K. L. Oliver, T. Joensuu, 

E. Hämäläinen, A. Palotie, A.-E. Lehesjoki. 

2899W Mutations in a zinc finger protein cause a novel 

autosomal recessive mental retardation syndrome 

identified through homozygosity mapping and whole 

exome sequencing of a single affected individual. 

M. Kambouris, T. Ben-Omran, Y. Al-Sarraj, R. Ali, M. 

Almureikhi, K. Erraffi, H. El-Shanti. 

2900T Exome sequencing of seven cases affected 

by a congenital muscular dystrophy with hyperlaxity 

belonging to five French-Canadian families. M. 

Tétreault, G. D’Anjou, J. Mathieu, M. Vanasse, B. Brais. 


2901F Diagnosis of syndromic autism using a 62-gene 

next-generation sequencing panel: Experience from 

a clinical diagnostic laboratory. J. R. Jones, M. J. 

Basehore, S. McGee, K. J. Champion, M. J. Friez. 

2902W Empowering a clinical genetic setting through 

the introduction of whole exome sequencing in 

prenatal and postnatal investigations. C. Pangalos, B. 

Hagnefelt, Z. Agioutantis, C. Konialis. 

2903T Use of whole exome sequencing to determine 

the genetic etiology of inherited congenital cataracts. 

L. M. Reis, R. C. Tyler, E. V. Semina. 

2904F A next-generation sequencing assay for the 

diagnosis of the Noonan spectrum of disorders. A. B. 

Santani, T. Tischler, A. Sasson, J. Perin, M. Sarmady, E. 

Frackelton, B. Tweddale, N. Abdel-Magid, S. Panossian, 

P. Warren, H. Feret, M. Deardorff, A. Wilkens, M. Italia, 

B. Ruth, J. Miller, E. Zackai, D. Monos, E. Rappaport, H. 

Hakonarson, P. White, C. Stolle. 

2905W French Canadian founder mutation in the SBDS 

gene causing Shwachman-Diamond Syndrome. L. 

Steele, M. Eliou, J. M. Rommens, P. N. Ray, T. L. Stockley. 

2906T Confirmation of cause and manner of death 

via a comprehensive cardiac autopsy including whole 

exome next-generation sequencing. D. J. Tester, J. J. 

Maleszewski, T. M. Kruisselbrink, M. J. Ackerman. 

2907F Diagnostic exome sequencing uncovers 

Mendelian inheritance in neurological disease. E. C. 

Chao, X. Li, K. Gonzalez, A. Fatemi, J. Cohen, W. Zeng. 

2908W Whole exome sequencing identifies potential 

homozygous mutations in a family with two sisters 

with brain malformation. E. Karaca, D. Pehlivan, C. G. 

Gonzaga-Jauregui, M. Ozen, A. Yuksel, W. Wiszniewski, 

A. Stray-Pedersen, D. Munzy, R. A. Gibbs, J. R. Lupski, 

Baylor-Hopkins Center for Mendelian Genetics. 

2909T Recessive mutations in MYL2 cause infantile 

fiber type disproportion and cardiomyopathy. M. A. 

J. Weterman, P. B. Barth, K. Y. van Spaendonck-Zwarts, 

E. Aronica, B. T. Poll-The, O. Brouwer, J. P. van Tintelen, 

Z. Qahar, E. J. Bradley, M. B. de Wissel, L. Salviati, C. 

Angelini, L. van den Heuvel, Y. E. M. Thomasse, A. P. 

Backx, G. Nuernberg, P. Nuernberg, F. Baas. 

2910F Molecular diagnosis in Stargardt’s disease 

through a tiered sequencing approach. J. Zaneveld, 

H. Wang, F. Wang, L. Mao, K. Zhang, Y. Duan, J. Zhu, J. 

Chiang, R. Chen. 

2911W Identification of mutations in the prostaglandin 

transporter gene SLCO2A1 in Japanese patients with 

pachydermoperiostosis. J. Kudoh, T. Sasaki, A. Shimizu, 

A. Shiohama, A. Hirakiyama, T. Okuyama, A. Seki, K. 

Kabashima, A. Otsuka, A. Ishiko, K. Tanese, S. Miyakawa, 

J. Sakabe, M. Kuwahara, M. Amagai, H. Okano, M. 

Suematsu, H. Niizeki. 


POSTER SESSIONS


2912T CIAS1 mutations associate with familial 

Mediterranean fever in Turkish patients and a novel 

V734G mutation in MEFV. E. Yosunkaya, N. Buyru. 

2913F Exome sequencing of a dog trio affected with a 

canine progressive retinal degeneration. S. J. Ahonen, 

H. Lohi. 

2914W Mutations in NESP4, a KASH domain protein 

linking the nucleus to the cytoskeleton, lead to hearing 

impairment in humans and mice. K. B. Avraham, Z. 

Brownstein, H. F. Horn, D. R. Lenz, S. Shivatzki, A. Dror, K. 

J. Roux, S. Kozlov, B. Burke, C. L. Stewart. 

2915T Genetic characterization of a large keratinization 

disorder cohort, utilizing whole exome sequencing to 

discover mutations in known and novel genes. L. M. 

Boyden, C. Tian, C. Saraceni, E. Loring, L. Milstone, R. P. 

Lifton, H. Vernon, D. Zand, A. S. Paller, K. A. Choate. 

2916F X-linked familial focal segmental 

glomerulosclerosis with first-degree heart block 

caused by a mutation in the NXF5 gene. T. Esposito, R. 

A. Lea, B. H. Maher, D. Moses, H. C. Cox, S. Magliocca, 

V. D’Alessio, A. Angius, T. Titus, T. Kay, A. Parnham, F. 

Gianfrancesco, L. R. Griffiths. 

2917W Mutations in SLC52A2 impair riboflavin 

transport and cause Brown-Vialetto-Van Laere 

syndrome. T. B. Haack, C. Makowski, Y. Yao, E. Graf, 

M. Hempel, T. Wieland, U. Tauer, U. Athing, J. A. Mayr, P. 

Freisinger, H. Yoshimatsu, K. Inui, T. M. Strom, T. Meitinger, 

A. Yonezawa, H. Prokisch. 

2918T Identification of a causative variant underlying 

nonsyndromic autosomal-dominant intellectual 

disability in an extended family. N. Jinawath, B. Pupacdi, 

E. Wohler, V. Charoensawan, D. Wattanasirichaigoon. 

2919F Targeted exome capture and paired-end 

massively parallel sequencing reveals new mutations 

for human hereditary deafness in the Middle East. 

M. Kanaan, Z. Brownstein, A. Abu Rayyan, D. Karfunkel, 

D. Dweik, Y. Bhonker, A. Yeheskel, L. Friedman, N. Kol, 

O. Yaron, V. Oron-Karni, M. Frydman, N. Shomron, K. B. 

Avraham. 

2920W Defective ion transport in sweat glands cause 

generalized isolated anhidrosis. J. Klar, M. Sobol, K. 

Mäbert, M. Tariq, M. Rasool, M. Jameel, T. Naeem, N. A. 

Malik, A. Johansson, L. Feuk, S. M. Baig, N. Dahl. 

2921T Exome sequencing identifies a novel mutation 

in GJA1 as the cause of alopecia, leukonychia, skin 

hyperkeratosis and craniofacial anomalies. Z. Lin, H. 

Wang, J. Zhang, Q. Chen, M. Lee, X. Wang, R. Li, Y. Yang. 

2922F Mutation discovery in ENU-derived mouse 

models for metabolic bone disease by whole 

chromosome and whole exome sequencing. B. Lorenz- 

Depiereux, S. Sabrautzki, S. Diener, E. Graf, T. Wieland, 

A. Benet-Pagès, S. Eck, B. Rathkolb, M. Klaften, J. A. 

Aguilar-Pimentel, J. Calzada-Wack, E. Janas, E. Wolf, M. 

Ollert, F. Neff, M. Hrabé de Angelis, T. M. Strom. 

2923W Exome sequencing identified a novel mutation 

in CACNA1S in a Japanese family with malignant 

hyperthermia. N. Matoba, H. Iwasa, M. Kohda, Y. 

Yatsuka-Kanesaki, Y. Ichihara, H. Kikuchi, Y. Suzuki, S. 

Sugano, Y. K. Hayashi, I. Nishino, Y. Okazaki. 

2924T Identification of a novel missense mutation 

in RAD51 in a large family with congenital mirror 

movements. O. E. Onat, S. Gulsuner, R. Bilgen, G. M. Dal, 

K. Bilguvar, H. Boyaci, K. Doerschner, H. Uysal, M. Gunel, 

T. Ozcelik. 

2925F De novo mutations of the gene encoding the 

histone acetyltransferase KAT6B cause genitopatellar 

syndrome. M. A. Simpson, C. Deshpande, D. Dafou, L. E. 

L. M. Vissers, W. J. Woollard, S. E. Holder, G. Gillessen- 

Kaesbach, R. Derks, S. M. White, P. Cohen-Snuijf, S. G. 

Kant, L. H. Hoefsloot, W. Reardon, H. G. Brunner, E. M. F. 

H. Bongers, R. C. Trembath. 

2926W Focal facial dermal dysplasia, type IV is 

associated with mutations in CYP26C1. A. Slavotinek, P. 

Mehrotra, B. Li, I. Nazarenko, P. Ling-Fung, R. Z. Lao, C. 

Chu, M. Yahyavi, C. Chou, A. L. Marqueling, K. Cordoro, I. 

Frieden, M.-A. Morren, K. Devriendt, T. Prescott, T. Glaser, 

P.-Y. Kwok, M. Petkovich, R. Desnick. 

2927T Identity-by-descent mapping reveals a new 

locus for primary congenital glaucoma, GLC3E, on 

chromosome 19p13.2. H. Verdin, B. P. Leroy, B. D’haene, 

F. Coppieters, S. Lefever, P. G. Kestelyn, E. De Baere. 

2928F Mutations in HOXB1 cause autosomal 

recessive congenital facial palsy with sensorineural 

hearing loss and strabismus. B. D. Webb, S. Shaaban, 

H. Gaspar, L. F. Cunha, C. R. Schubert, K. Hao, C. 

D. Robson, W. Chan, C. Andrews, S. MacKinnon, 

D. T. Oystreck, D. G. Hunter, A. J. Iacovelli, X. Ye, A. 

Camminady, E. C. Engle, E. W. Jabs. 

2929W Genetic heterogeneity underlying female 

infertility and sensorineural hearing loss and 

identification of LARS2 as a third gene for Perrault 

syndrome. S. B. Pierce, T. Walsh, R. Michaelson-Cohen, 

R. E. Klevit, M.-C. King, K. Gersak, E. Levy-Lahad. 

2930T Exome sequencing in apparently recessive 

and apparently X-linked HSP families identifies an 

ATL1 mutation hotspot which is associated with low 

penetrance dominant inheritance. C. Beetz, R. E. 

Varga, H. Fadel, R. Schüle, I. Valenzuela, F. Speziani, 

G. Rudenskaja, G. Nürnberg, H. Thiele, J. Altmüller, V. 

Alvarez, J. Gamez, P. Nürnberg, S. Zuchner. 

2931F Autosomal recessive lethal congenital 

contractural syndrome type 4 caused by a mutation in 

MYBPC1. O. S. Birk, B. Markus, G. Narkis, R. Z. Birk, I. 

Cohen, D. Landau. 

2932W Exome sequencing of a pedigree with caudal 

regression syndrome. G. Cheng, E. H. M. Wong, P. 

C. Sham, S. S. Cherny, S. Maas, S. W. Scherer, C. R. 

Marshall, S. L. Pereira, P. K. H. Tam, M.-M. Garcia-Barceló. 


2933T Loss of function mutations in OMIM genes 

reveal a burden of disease susceptibility in a 

consanguineous population. K. A. Fakhro, J. L. 

Rodriguez-Flores, N. R. Hackett, J. Salit, J. Fuller, J. A. 

Malek, L. Chouchane, R. Badii, A. Al-Marri, J. G. Mezey, 

R. G. Crystal. 

2934F Causal gene discovery in Mendelian disorders 

using whole exome sequencing. S. Jhangiani, 

M. Bainbridge, J. Lu, M. Wang, H. Dinh, Y. Han, J. 

Santibanez, M. Caramins, P. Campeau, B. Lee, J. Reid, J. 

Lupski, E. Boerwinkle, D. Muzny, R. Gibbs. 

2935W Whole genome sequencing and copy number 

analysis of exome sequencing in two families with splithand/split-foot 

malformation identifies chromosomal 

rearrangements affecting putative exonic enhancers. H. 

Lango Allen, R. Caswell, P. Turnpenny, C. Turner, C. Wragg, 

W. Xie, M. Weedon, X. Xu, S. Ellard. 

2936T Searching novel genes for hereditary hearing 

loss in multiplex families using next generation 

sequencing. Y. H. Lin, C. C. Wu, Y. C. Lu, C. J. Hsu, P. L. 

Chen. 

2937F Combination of genomic technologies and 

consanguinity in order to identify pathogenic variants 

in recessive disorders. P. Makrythanasis, M. Nelis, F. 

Santoni, M. Guipponi, F. Béna, A. Vannier, G. Duriaux- 

Sail, S. Gimelli, E. Stathaki, E. Falconnet, S. Temtamy, A. 

Megarbane, M. Aglan, M. S. Zaki, S. Fokstuen, A. Bottani, 

A. Masri, S. Psoni, S. Kitsiou, H. Fryssira, N. All-Allawi, 

A. Sefiani, S. Al-Hait, S. Elalaoui, N. Jalkh, L. Al-Gazali, 

F. Al-Jasmi, H. Chaabouni Bouhamed, H. Hamamy, S. E. 

Antonarakis. 

2938W A single exome variant is the only expected 

variant by likelihood ratio for a rare heritable de novo 

dominant disorder in a three generation family with 

two affected. S. M. Marchegiani, T. C. Markello, L. A. 

Wolfe, K. Fuentes-Fajardo, D. R. Adams, W. A. Gahl, J. C. 

Mullikin, T. Davis, J. P. Accardi, C. J. Tifft, C. F. Boerkoel, 

NISC Comparative Sequencing Program. 

2939T Whole-genome sequencing identifies mutations 

in known and novel genes for early infantile epileptic 

encephalopathy. H. C. Martin, A. T. Pagnamenta, K. 

Hudspith, A. Rimmer, R. Copley, E. Sadighi Akha, J. 

Broxholme, A. Kanapin, J.-B. Cazier, D. Shears, H. 

Stewart, D. Bentley, J. Taylor, E. Blair, P. Donnelly. 

2940F Novel intellectual disability genes identified by 

exome sequencing. R. Rabionet, O. Drechsel, A. Puig, J. 

Gonzalez, I. Madrigal, M. I. Alvarez, N. Baena, M. Viñas, S. 

Ossowski, M. Guitart, M. Mila, X. Estivill. 

2941W Targeted deep resequencing identifies a 

mutation in MID2, as causal for X-linked intellectual 

disability with varied disease severity. B. K. Thelma, S. 

G. Thenral, A. Michealraj, M. Kabra, G. Kaur, R. C. Juyal. 

2942T Exome sequencing and functional biology 

reveal novel genes causing infantile mitochondrial 

encephalopathy. P. Bonnen, A. Besse, T. Donti, S. Lalani, 

F. Scaglia, W. Craigen, B. Graham. 


2943F TIMM44 mutations identified by family-based 

WES cause severe mitochondrial respiratory chain 

disease due to defective mitochondrial protein import. 

M. J. Falk, S. Srinivasan, S. Dingley, J. Ostrovsky, M. 

Tsukikawa, E. Polyak, E. Place, M. Consugar, J. C. Perin, 

N. Avadhani, E. A. Pierce, X. Gai. 

2944W A novel form of limb girdle muscular dystrophy 

caused by impairment of an ER-to-Golgi trafficking 

component. N. Bögershausen, Y. Li, J. C. von Kleist- 

Retzow, R. Wirth, G. Nürnberg, H. Thiele, J. Altmüller, B. 

Schoser, P. Nürnberg, R. Heller, B. Wollnik. 

2945T Tackling giants with next-generation 

sequencing: homozygous or compound heterozygous 

truncating mutations of TTN from exome analysis 

define novel forms of cardiomyopathy with skeletal 

myopathy. C. Chauveau, C. Julien, H. Marks, R. Foley, A. 

L. Kho, B. Talim, M.-C. Arne-Bes, E. Uro-Coste, P. Maury, 

A. Vihola, B. Udd, H. Topaloglu, S. Moore, M. Gautel, C. 

Bonnemann, M.-E. Samuels, A. Ferreiro. 

2946F Exome sequencing for the molecular diagnosis 

of muscle disorders: Successes and challenges 

encountered. K. K. McDonald, J. Stajich, C. P. Blach, A. 

E. Ashley-Koch, M. A. Hauser. 

2947W Usher-exome: An efficient diagnostic approach 

when used in combination with LSDB USHBases, 

Variant Manager USHVAM and USMA. A. F. Roux, T. 

Besnard, G. Garcia Garcia, D. Baux, C. Vaché, L. Larrieu, 

V. Faugère, J. Millan, M. Claustres. 

2948T Loss of function mutations in HINT1 are a major 

cause of autosomal recessive axonal neuropathy with 

neuromyotonia. M. Zimon, J. Baets, L. Almeida-Souza, J. 

Nikodinovic, Y. Parman, E. Battaloglu, V. Guergueltcheva, I. 

Tournev, M. Auer-Grumbach, P. De Rijk, T. Müller, E. Fransen, 

P. Van Damme, W. Löscher, N. Barisˇ i ć , Z. Mitrovic, S. Previtali, 

H. Topaloglu, G. Bernert, A. Beleza-Meireles, B. Ishpekova, 

K. Peeters, A. Hahn, S. Züchner, V. Timmerman, P. Van Dijck, 

V. Milic Rasic, A. Janecke, P. De Jonghe, A. Jordanova. 

2949F Identification of novel genes in human primary 

immunodeficiency diseases using exome sequencing. 

S. Khan, B. Wakeland, C. Liang, M. De la Morena, N. Van 

Oers, E. Wakeland. 

2950W The ADAMTS18 gene is responsible for autosomal 

recessive syndromic retinal dystrophy. S. Banfi, I. Peluso, 

F. Testa, M. Pizzo, R. Collin, N. Meola, M. Mutarelli, G. 

Dharmalingam, M. Melone, I. Conte, F. Simonelli. 

2951T Novel PLP1 gene mutation discovered by whole 

genome sequencing in brothers with infantile onset 

dopa-responsive dystonia and delayed central nervous 

system demyelination. R. L. Margraf, J. Durtschi, K. 

Mallempati, J. Bonkowsky, R. Lutz, K. V. Voelkerding, K. J. 

Swoboda. 

2952F Digenic inheritance in autosomal recessive 

non-syndromic hearing loss cases carrying GJB2 

heterozygote mutations: Assessment of GJB4 and 

GJA1. D. Kooshavar, M. R. Noori Daloii, M. Hashemzadeh 

Chaleshtori. 


POSTER SESSIONS


2953W Exocrine and endocrine pancreatic damage in 

cystic fibrosis are associated with SLC26A9. D. Soave, 

T. Chiang, M. Miller, D. Su, K. Keenan, W. Li, W. Ip, F. 

Wright, S. Blackman, H. Corvol, M. Knowles, G. Cutting, 

M. Drumm, L. Sun, J. Rommens, P. Durie, L. Strug. 

2954T Clinical findings of a three-generation family 

with GLA nonsense mutation (W162X). E. Severin, A. 

Stan, C. Dragomir, G. J. Sarca. 

2955F Targeted array-CGH analysis to identify copynumber 

changes underlying ciliopathies. A. Lindstrand, 

C. Carvalho, D. Pehlivan, R. D. Clark, C. A. Johnson, H. 

Omran, B. Franco, H. Kremer, P. L. Beales, P. J. Scambler, 

E. R. Maher, J. R. Lupski, N. Katsanis. 

2956W Is the R202Q mutation clinically relevant in 

familial Mediterranean fever, though? S. Duzenli, A. O. 

Arslan. 

2957T Molecular basis of microphthalmia/ 

anophthalmia. N. Chassaing, A. Causse, A. Delahaye, A. 

Vigouroux, P. Calvas. 

2958F Identification and functional investigation of 

non-coding NIPBL regulatory elements. D. Braunholz, 

J. Wilde, L. D. Michelis, K. S. Wendt, E. Watrin, J. Eckhold, 

I. D. Krantz, G. Gillessen-Kaesbach, M. A. Deardorff, F. J. 

Kaiser. 

2959W Molecular genetic studies of nonsyndromic 

oculocutaneous albinism in the Pakistani population. 

T. Jaworek, T. Kausar, N. Tariq, S. Sadia, M. I. Maqsood, 

A. Sohail, M. A. Bhatti, M. Ali, S. Riazuddin, R. S. Shaikh, 

Z. M. Ahmed. 

2960T A case of lymphedema with microcephaly and 

chorioretinopathy with a mutation in the KIF11 gene. D. 

Finegold, E. Lawrence, K. Levine, R. Ferrell. 

2961F miRNA-411 negatively regulates YAF2 and 

myogenic factors. Y. Chen, N. Harafuji, P. Schneiderat, 

M. C. Walter. 

2962W Transcriptional profiling in facioscapulohumeral 

muscular dystrophy to identify candidate biomarkers. 

F. Rahimov, O. D. King, D. G. Leung, G. M. Bibat, C. P. 

Emerson, Jr., K. R. Wagner, L. M. Kunkel. 

2963T The second most prevalent mutation of fukutin in 

Japanese Fukuyama muscular dystrophy. K. Kobayashi, 

R. Kato, E. Kondo, M. Osawa, K. Saito, T. Toda. 

2964F Molecular study of KRT14 mutations for making 

a screening panel test for Iranian patient affected with 

epidermolysis bullosa. M. Mahdavi, M. Moghaddam, A. 

Kakavand, N. Hatamnejadian, B. Sedaghati Khayat, H. 

Dehghanpour, A. Ebrahimi. 

2965W Mutations in ANO5 in the Norwegian limb 

girdle muscle dystrophy population. M. Van Ghelue, 

M. Ingebrigtsen, A. Skogstad, B. Hestholm, C. Wahl, S. 

I. Mellgren, F. Rasmussen, M. Rasmussen, B. Karimé, C. 

Jonsrud. 

2966T Mutation of the EYS gene implicated in 

autosomal recessive retinitis pigmentosa leads to 

abnornmal cellular aggregates and cell death. W. 

Mustill, P. Kruczek, A. C. Zelhof, S. S. Bhattacharya. 

Prenatal, Perinatal and 

Reproductive Genetics 

2967T Mitochondrial DNA variations in human ova 

and blastocyst and its clinical implications and IVF 

outcome. M. Shamsi, G. Periyasamy, L. Chawla, N. 

Malhotra, N. Singh, S. Mittal, P. Talwar, K. Thangaraj, R. 

Dada. 

2968T Cumulus cell microRNA profiles are associated 

with oocyte aneuploidy. B. R. McCallie, J. C. Parks, N. 

Treff, R. T. Scott, W. B. Schoolcraft, M. G. Katz-Jaffe. 

2969T Prenatal diagnosis of sirenomelia by combining 

two-dimensional ultrasound, new fetal skeletal 

rendering, three-dimensional helical computer 

tomography and magnetic resonance imaging. X.-L. 

Chen, R. Liu, X.-H. Yang, N. Zhong. 

2970T Comparative study on quantitative parameters 

of blood perfusion and microvessel density in placenta 

of rat model of preeclampsia evaluated with contrastenhanced 

ultrasound. Y.-Q. Xu, X.-L. Chen, X.-J. Lu, 

X.-H. Yang, P.-W. Chen, J.-H. Huang, C. Huang, Z.-L. Lu, 

N. Zhong. 

2971T Prenatal ultrasound and autopsy findings in 

Simpson-Golabi-Behmel syndrome. K. Chong, J. 

Jessen, M. Injeyan, K. Fong, S. Salem, S. Keating, P. 

Shannon. 

2972T Testing the most frequent genetic diseases 

optimizes abnormal gene identity and test accuracy 

worldwide. R. Lebo. 

2973T Single nucleotide polymorphism based method 

for fetal fraction quantification in maternal plasma 

using massively parallel sequencing. G. Hogg, J. Tynan, 

M. Tang, S. Sovath, A. Maer, D. van den Boom, P. Oeth. 

2974T The Pregnancy and Health Profile Pilot Project: 

Evaluating the impact of integrating a novel family 

history and genetic screening tool on patients, 

providers, and clinical practice. E. Edelman, B. Lin, T. 

Doksum, B. Drohan, K. Hughes, S. Dolan, V. Edelson, J. 

O’Leary, L. Vasquez, S. Copeland, J. Scott. 

2975T Chromosomal structural abnormalities among 

Filipino couples with recurrent pregnancy losses. E. C. 

Cutiongco-de la Paz, A. D. Berboso, E. G. Salonga, C. M. 

David-Padilla. 

2976T Factor II G20210A and factor V G1691A 

mutations and methylenetetrahydrofolate reductase 

C677T polymorphism in 155 women with repeated 

pregnancy loss. S. Seyedhassani, M. Houshmand, M. 

Neshan, F. Saeb. 


2977T Functional consequences of miscarriage copy 

number variations. J. Wen, C. W. Hanna, S. Martell, P. C. 

K. Leung, W. P. Robinson, M. Stephenson, E. Rajcan- 

Separovic. 

2978T The fetal fraction of cell-free DNA in maternal 

plasma is not affected by a priori risk of fetal trisomy. 

T. Musci, H. Brar, E. Wang, B. Brar, A. Y. Batey, A. 

Oliphant, M. E. Norton. 

2979T Role of E2F1 in testicular descent and fertility. C. 

Jorgez, J. Addai, J. Newberg, V. Vangapandu, A. Sahin, J. 

Rosenfeld, L. Lipshultz, D. Lamb. 

2980T Study of four SNPs in SLC6A14, INSR, TAS2R38 

and OR2W3 genes for association with Iranian 

idiopathic infertile men. E. Siasi, A. Aleyasin. 

2981T NLRP7 subcellular localization in human oocytes 

and early cleavage stages. E. Akoury, L. Zhang, M. 

Seoud, A. Ao, R. Slim. 

2982T Human spermatogenic failure purges 

deleterious mutation load from the autosomes and 

both sex chromosomes, including the gene DMRT1. 

D. F. Conrad, A. Lopes, K. I. Aston, F. Carvalho, J. 

Goncalves, R. Mathiesen, N. Huang, A. Ramu, J. Downie, 

S. Fernandes, A. Amorim, A. Barros, M. Hurles, S. 

Moskovtsev, C. Ober, J. Schiffman, P. N. Schlegel, M. De 

Sousa, D. T. Carrell. 

2983T A homozygous deletion of DPY19L2 gene is a 

cause of globozoospermia in men from the Republic 

of Macedonia. D. Plaseska-Karanfilska, P. Noveski, S. 

Madjunkova, I. Maleva, V. Sotiroska, Z. Petanovski. 

2984T Decreased puberty and fertility development 

in NELF KO mice due to impaired GnRH neuron 

migration. S. Quaynor, L. Chorich, R. Cameron, L. 

Layman. 

2985T Deficiency of PRSS37, a putative trypsin-like 

serine protease, causes male infertility from mouse to 

human. Z. G. Wang, C. L. Shen, J. B. Liu, J. S. Feng, Y. 

Kuang, H. X. Zhang, W. T. Wu, J. Chi, L. Y. Tang, J. Fei. 

2986T Changes in placental DNA methylation may be 

associated with karyotypically normal miscarriage. C. 

W. Hanna, D. E. McFadden, W. P. Robinson. 

2987T Co-culture of mouse embryonic stem cells with 

Sertoli cells promote in vitro generation of germ cells. 

M. Miryounesi, K. Nayernia, M. Dianatpour, S. Savad, M. 

H. Modarressi. 

2988T Androgen receptor CAG repeat length may 

influence the risk of polycystic ovarian syndrome. J. C. 

Silas, R. Singh, S. Nirmala Sadasivam, M. N. Sadasivam, 

L. Singh, K. Thangaraj. 

2989T An analysis of the initial experience offering cellfree 

fetal DNA testing to pregnant women. J. Taylor, A. 

Ables, L. Hudgins. 


2990T Identification of messenger RNA of fetoplacental 

source in maternal plasma of women with normal 

pregnancies and pregnancies with intrauterin growth 

restriction. P. Ayala Ramírez, R. García Robles, J. D. 

Rojas, M. Bermúdez, J. Bernal Villegas. 

2991T Instant familial haplotyping in conjunction with 

embryo analysis in preimplantation genetic diagnosis 

using DNA microarrays. G. Altarescu, D. A. Zeevi, S. 

Zeligson, S. Perlberg, T. Eldar-Geva, E. J. Margalioth, E. 

Levy Lahad, P. Renbaum. 

2992T Role of cytokines in recurrent miscarriages. F. 

Parveen, S. Agrawal. 

2993T Developmental neuropsychological assessment 

of 4-5-year-old children born after preimplantation 

genetic diagnosis: A pilot study. G. Sacks, J. Guedalia, 

T. Eldar-Geva, T. Gilboa, E. J. Margalioth, E. Levy-Lahad, 

G. Altarescu. 

2994T Terminological clarification in PGD: Could it 

reframe the debate? S. Côté, P. Hamet. 

2995T A novel, generic, preimplantation genetic 

diagnosis protocol applied to cystic fibrosis involving 

mutation detection through high resolution melting 

analysis and simultaneous haplotype analysis through 

QF-PCR. A. Destouni, M. Poulou, G. Kakourou, C. Vrettou, 

J. Traeger-Synodinos, I. Fylaktou, E. Kanavakis, M. Tzetis. 

2996T PGD and heteroplasmic mitochondrial DNA 

point mutations: A systematic review estimating the 

chance of healthy offspring. D. M. E. I. Hellebrekers, R. 

Wolfe, A. T. M. Hendrickx, I. F. M. de Coo, C. E. de Die, J. 

P. M. Geraedts, P. F. Chinnery, H. J. M. Smeets. 

2997T Successful pre-implantation genetic diagnosis 

in isolated sulfite oxidase deficiency: A happy end to 

the saga of a devastating neurogenetic disorder. A. 

Kondkar, K. Abu-Amero, M. Salih, T. Bosley. 

2998T Outcomes of 687 in vitro fertilization cycles and 

5871 embryos evaluated using 23-chromosome single 

nucleotide polymorphism microarray preimplantation 

genetic screening for recurrent pregnancy loss. K. J. 

Tobler, P. R. Brezina, A. T. Benner, L. Du, B. Boyd, W. G. 

Kearns. 

2999T Cleavage-stage blastomere biopsy significantly 

impairs human embryonic reproductive potential 

while blastocyst-stage trophectoderm biopsy does 

not: A paired randomized controlled trial utilizing SNP 

microarray-based DNA fingerprinting. N. R. Treff, K. M. 

Ferry, T. Zhao, J. Su, E. J. Forman, R. T. Scott, Jr. 

3000T Comparison of two whole genome amplification 

methods for preimplantation genetic diagnosis with 

HLA typing on beta-thalassaemia. Q. Wang, J. F. C. 

Chow, W. S. B. Yeung, E. H. Y. Ng, P. C. Ho. 

3001T Preimplantation genetic diagnosis for a carrier 

of complex chromosome rearrangement resulting in a 

healthy offspring. K. Writzl, A. Veble, B. Peterlin. 


POSTER SESSIONS


3002T Preimplantation genetic diagnosis in genomic 

regions with duplications and pseudogenes: Long 

range PCR in the single cell assay. D. A. Zeevi, R. 

Ron El, P. Renbaum, E. Kasterstein, D. Strassburger, 

D. Komarovsky, B. Maslanski, I. Ben-Ami, O. Bern, A. 

Komski, E. Levy Lahad, G. Altarescu. 

3003T TAR syndrome diagnosis confirmed by aCGH 

analysis. S. Ceylaner, Y. K. Terzi, S. Kalyoncu, F. I. Sahin. 

3004T Prenatal detection of anophthalmia in three 

cases with significantly different neonatal outcomes. T. 

Bardakjian, D. Dorsainville, A. Schneider. 

3005T Antenatal detection of a fetus with bilateral 

anophthalmia and pulmonary hypoplasia: A rare case 

report. C. C. Albu, D. F. Albu, M. Dumitrescu, E. Severin. 

3006T Outcomes following antenatal diagnosis of 

ultrasonographically isolated cleft lip with or without 

cleft palate. A. Lehman, L. Burnell, C. Verchere, D. 

Pugash, S. Robertson, A. Loo. 

3007T cfDNA is not compromised by temperature 

stress of maternal blood collected in Streck cell-free 

DNA BCT. A. Huang, A. Srinivasan, V. Nguyen, J. Cheng, 

J. Sprowl, R. Van Luchene, A. Aziz, D. Comstock. 

3008T Effective epigenetic biomarker in first-trimester 

maternal plasma for non-invasive fetal trisomy 21 

detection. J. Lim, D. Lee, S. Kim, M. Kim, S. Park, Y. Han, 

M. Kim, M. Kim, K. Choi, H. Ryu. 

3009T Prenatal diagnosis of a fetus with mosaic 

trisomy 18, omphalocele and severe intrauterine 

growth restriction: Case report. D. F. Albu, C. C. Albu, A. 

Oncescu, E. Severin, M. Dumitrescu. 

3010T Chromosomal abnormalities in prenatal diagnosis: 

An Indian perspective. B. B. Ganguly, N. N. Kadam. 

3011T A powerful ‘smart tip’ method for nucleic acid 

extraction and enrichment of cell-free fetal DNA 

from maternal plasma. A. Gindlesperger, T. Stokes, P. 

Belgrader, R. Holmberg. 

3012T Prenatal detection of a supernumerary dicentric 

chromosome 15 through cytogenetics and array CGH 

after fetal ultrasound findings of micrognathia and 

small stomach bubble. J. L. Giordano, L. Cohen, V. 

Pulijaal, S. Gelber. 

3013T Prenatal diagnosis and fetal autopsy findings in 

Aicardi syndrome. M. C. Injeyan, I. Miron, P. Shannon, A. 

Malinowski, S. Blaser, D. Chitayat. 

3014T High-throughput massively parallel sequencing 

for fetal aneuploidy detection from maternal plasma. T. 

J. Jensen, T. Zwiefelhofer, R. C. Tim, Z. Dzakula, S. K. Kim, 

A. R. Mazloom, G. McLennan, C. Deciu, D. van den Boom, 

M. Ehrich. 

3015T Isolation of selected, single chromosomes from 

the isolated circulating fetal cells for clonal expansion, 

molecular profiling, and next-generation sequencing. 

M. Malecki, R. Malecki. 

3016T Noninvasive prenatal sex determination using 

massively parallel sequencing in samples from a large 

clinical validation study. P. Oeth, A. Mazloom, T. Wang, 

G. E. Palomaki, J. A. Canick, A. Bombard, D. van den 

Boom, M. Ehrich, C. Deciu. 

3017T MeDIP real time qPCR of maternal peripheral 

blood reliably identifies trisomy 21. P. Patsalis, E. 

Tsaliki, C. Spyrou, G. Koumbaris, E. Kypri, S. Kyriakou, 

C. Sotiriou, E. Touvana, A. Keravnou, A. Karagrigoriou, 

K. Lamnissou, V. Velissariou, C. Sismani, E. A. 

Papageorgiou. 

3018T Highly accurate non-invasive detection of fetal 

aneuploidy of chromosomes 13, 18, 21, X and Y by 

targeted sequencing. M. Rabinowitz, G. Gemelos, M. Hill, 

B. Levy, S. McAdoo, M. Savage, Z. Demko. 

3019T Accuracy of prenatal diagnosis in elective 

termination of pregnancy. J. Saraiva, F. Ramos, S. Maia, 

M. Branco, J. Raposo, J. Sá, S. Sousa, M. Venâncio, R. 

Pina, E. Galhano, L. Ramos. 

3020T Non-Invasive Chromosomal Evaluation Study: 

Results of a multicenter, prospective, cohort study for 

detection of fetal trisomy 21 and trisomy 18. K. Song, 

H. Brar, J. Weiss, A. Karimi, L. C. Laurent, A. B. Caughey, 

M. H. Rodriguez, J. Williams, III, M. E. Mitchell, C. D. Adair, 

H. Lee, B. Jacobsson, M. W. Tomlinson, D. Oepkes, D. 

Hollemon, A. B. Sparks, A. Oliphant, M. E. Norton, NICE 

Study Group. 

3021T Detection of fetal sub-chromosomal alterations 

in maternal plasma cell-free DNA using massively 

parallel sequencing. A. Srinivasan, X. Li, J. Sprowl, A. 

Huang, A. Sehnert, R. Rava. 

3022T Approach to prenatally diagnosed esophageal 

atresia/tracheoesophageal fistula. B. Suskin, S. 

Klugman, T. Goldwaser, A. Roe, K. Bajaj. 

3023T Quantification of fetal DNA in maternal plasma 

by massively parallel sequencing using fetal-specific 

methylation markers. M. Tang, J. Tynan, S. Sovath, A. 

Maer, G. Hogg, D. van den Boom, P. Oeth. 

3024T Curated gene set outperforms GWAS data on 

pathway-based genetic analysis. J. Padbury, A. Uzun, A. 

Dewan, S. Istrail. 

3025T Analysis of etiology and complications among 

1,128, including 493 iatrogenic and 635 spontaneous, 

Chinese preterm births. M. Xiao, W. Ren, N. Zhong. 

3026T Admixture mapping identifies susceptibility loci 

associated with preterm birth in African Americans. 

H. Tsai, X. Liu, X. Hong, G. Wang, T. Chang, Q. Chen, C. 

Pearson, D. Caruso, L. Heffner, B. Zuckerman, X. Wang. 

3027T Single nucleotide polymorphism in Toll-like 

receptor 6 is associated with risk for Ureaplasma 

respiratory tract colonization and bronchopulmonary 

dysplasia in preterm infants. A. H. Winters, T. D. LeVan, 

S. N. Vogel, K. L. Chesko, T. I. Pollin, R. M. Viscardi. 


3028T Genome-wide association study of preterm 

delivery in mothers. F. Geller, B. Feenstra, M. Melbye, R. 

Myhre, S. Myking, Early Growth Genetics Consortium, T. 

I. A. Sørensen, P. Magnus, M. L. Marazita, J. C. Murray, B. 

Jacobsson. 

3029T Evidence of SNP variation in the folic acid 

metabolic pathway associates with preterm birth. Y. 

Chen, B.-J. Wang, M.-J. Liu, Y. Wang, J. Mao, S.-N. Wang, 

J.-R. Dai, H. Li, N. Zhong. 

3030T Investigation of genetic risk factors for chronic 

adult diseases in preterm birth. N. Falah, J. McElroy, V. 

Snegovskikh, C. Lockwood, E. Kuczynski, E. Norwitz, J. 

Murray, R. Menon, K. Teramo, L. Muglia, T. Morgan. 

3031T Maternal SNPs in the p53 pathway: Risk factors 

for aneuploidy 21? A. P. C. Brandalize, J. A. Boquett, L. 

R. Fraga, L. Schuller-Faccini. 

3032T Disomy 21 mosaicism in sperm. E. Iwarsson, U. 

Kvist, M. A. Hultén. 

3033T DiGeorge sequence due to uncontrolled 

maternal gestational diabetes. A. Ludtke, T. Mucci, M. 

Aquino, E. Graber, L. Mehta. 

3034T Investigation of telomere length in newborns 

and correlation with gestation age and birth weight. 

E. C. Tan, S. N. Lim, Z. Yahya, D. Zeegers, T. Moe, E. E. P. 

Kyaw, G. S. H. Yeo, M. P. Hande. 

Clinical Genetics and Dysmorphology 

3035W A case of arthrogryposis and mosaic Turner 

syndrome. L. Mora, A. Lopez, I. Zarante. 

3036F Paternal uniparental disomy 6 and 2q13 deletion 

detected prenatally in a patient with cardiac defects, 

transient neonatal diabetes mellitus, hydrocephalus 

and dysmorphic features. D. Niyazov, C. Tillis, D. 

Feliperamirez, A. Robichaux. 

3037W Congenital acquired mosaicism for monosomy 

7. J. Hiemenga, S. Klemm, J. Foley, H. Toriello. 

3038F Overgrowth as a presenting symptom of the 

22q11.2 duplication syndrome: A novel association. D. 

McDonald-McGinn, E. Bratton, K. Dickinson, A. Kohut, 

A. Bailey, A. Wilkens, I. Krantz, B. Emanuel, S. Saitta, M. 

Deardorff, E. H. Zackai. 

3039W Down syndrome patients nutritional evaluation 

at the Hospital para el Nino Poblano outpatients. M. 

Cortes, J. M. Aparicio, R. J. M. Perez, F. E. P. Romero. 

3040F Follow-up of patient with non-supernumerary 

ring chromosome 7: Clinical manifestations, 

cytogenetic and molecular analysis. C. Salas, P. Perez- 

Vera, D. Cervantes, R. Cruz-Alcivar, R. Daber, L. Conlin, 

L. Leonard, N. B. Spinner, C. Durán-McKinster, V. Del 

Castillo-Ruiz. 


3041W Mowat-Wilson syndrome: Case report. J. Acosta 

Guio, A. Zarante. 

3042F The association of low socioeconomic status and 

the risk of having children with Down syndrome: A report 

from the National Down Syndrome Project. J. E. Hunter, E. 

G. Allen, L. J. H. Bean, S. B. Freeman, S. L. Sherman. 

3043W Surgical intervention for esophageal atresia in 

patients with trisomy 18. E. Nishi, T. Nakamura, K. Iio, S. 

Mizuno, H. Kawame, Y. Fukushima, T. kosho. 

3044F Mosaic supernumerary ring chromosome 

3: Does copy number gain of FOXP1 contribute 

to expressive speech impairment and intellectual 

disability? I. Filges, A. Datta, E. Boehringer, L. Suda, B. 

Roethlisberger, P. Miny. 

3045W Cat eye syndrome: Wide clinical variability in 

three patients from the same family. M. I. Melaragno, 

S. I. Belangero, A. N. Pacanaro, F. T. Belucco, D. M. 

Christofolini, L. D. Kulikowski, R. S. Guilherme, A. Bortolai, 

A. R. Dutra, F. B. Piazzon, M. C. Cernach. 

3046F Maternally inherited Xq26.2 duplication in a male 

offspring with severe prenatal and postnatal growth 

deficiency, dysmorphic facial features, hydrocephalus 

and developmental delay resembling Russell-Silver 

syndrome. L. Tuzovic, J. Wynn, L. Rohena, K. Anyane- 

Yeboa, A. Iglesias. 

3047W De novo translocation disrupting mediator 

complex subunit in a patient with Pierre-Robin 

sequence and developmental delay. K. H. Utami, A. 

M. Hillmer, E. G. Y. Chew, C. L. Winata, V. Korzh, S. 

Mathavan, P. Sarda, S. Davila, V. Cacheux. 

3048F 614kb Duplication at chromosome 9q22.32 

encompassing PTCH1 gene in a family with reciprocal 

translocation (9;20)(q22;q13) and intrafamilial 

phenotypic variability. C. Vinkler, D. Lev, A. Singer, A. 

Frumkin, M. Davidovich, M. Michelson, Y. Michaeli-Yossef. 

3049W Case report: A boy with 49, XXXXY syndrome, 

diagnosed by karyotype and a characteristic 

phenotype. A. Zarante, J. C. Prieto, O. Moreno. 

3050F 6p25 Interstitial deletion in two dizygotic twins 

with gyral pattern anomaly and speech and language 

disorder. M. Bozza, L. Bernardini, A. Novelli, P. Brovedani, 

E. Moretti, R. Canapicchi, V. Doccini, T. Filippi, A. Battaglia. 

3051W Microdeletion of 19p13.3 in a girl with Peutz- 

Jeghers syndrome, intellectual disability, hypotonia, 

and dysmorphic features. Y. Kuroda, T. Saito, J. Nagai, 

K. Ida, T. Naruto, M. Masuno, K. Kurosawa. 

3052F Maternal mosaicism for deletion of 22q13.3 

resulting in siblings with Phelan-McDermid syndrome. 

K. Phelan, B. R. DuPont, R. C. Rogers. 

3053W De novo interstitial deletion of 3q22.1-q22.3 in 

two patients: A new microdeletion syndrome. Y. Wilnai, 

W. Wilson, C. Jett, M. Manning. 


POSTER SESSIONS


3054F Chromosomal microarray analysis of individuals 

with autism or learning deficits presenting for genetic 

services. J. Roberts, J. Hayes, N. Dzidic, K. Hovanes, M. 

Dasouki, M. G. Butler. 

3055W A Wolf Hirschhorn-like phenotype in a patient with 

a de novo 6q26-q27 deletion and 20p13-p12.1 duplication. 

F. Faucz, H. Salomão, R. B. de Alexandre, A. Bonalumi, J. 

Souza, J. A. Rosenfeld, S. Raskin, V. S. Sotomaior. 

3056F Submicroscopic chromosomal rearrangements 

in patients with an Angelman syndrome-like 

phenotype. K. Hosoki, T. Ohta, N. Niikawa, S. Saitoh. 

3057W Twenty-two year follow-up of identical 

twins with discordant phenotype due to a ring 13 

chromosomal mosaicism in one of them. Y. Lacassie. 

3058F 12p microRNA expression in fibroblast cell lines 

from probands with Pallister-Killian syndrome. K. Izumi, 

Z. Zhang, M. Kaur, I. Krantz. 

3059W Genetics of precocious puberty: A proband with 

Klinefelter syndrome, maternal uniparental disomy 14 

and precocious puberty. K. Reddy, H. Bass, J. Keni. 

3060F Molecular genetic testing of recurrent 

anencephaly in a family without partial trisomy 2p22pter. 

C. Sergi, J. Gekas, D. Kamnasaran. 

3061W Urethrocystoscopy, diagnostic laparoscopy, 

versus testicular descent gonadectomy in a patient 

with ambiguous genitalia: A case report. F. Cuellar- 

López, J. M. Aparicio, l. de la Torre. 

3062F Congenital association VACTERL at the Hospital 

para el Nino Poblano, Mexico: Fourteen case reports. 

A. Garcia-Guzman, J. M. Aparicio-Rodriguez. 

3063W Orthodontic correction in malformated 

unilateral teeth structure in a patient with 

pseudoachondroplasia: A case report. S. Ochoa, J. M. 

Aparicio, D. D. A. Camarillo, S. S. Cabrera. 

3064F Hearing loss frequency in a pediatric patient 

group at a third level hospital. A. Romero, J. M. Aparicio, 

L. P. C. Gallegos. 

3065W Diagnostic exome sequencing reveals a de 

novo mutation in the DYNC1H1 gene in a sporadic case 

of developmental delay, seizures, and polymicrogyria. 

K. D. Gonzalez, J. Wei, X. Li, H. M. Lu, H. Lu, J. S. Cohen, 

R. McClellan, S. Naidu, W. Zeng. 

3066F Congenital poikiloderma, fatty infiltration of 

muscles and pulmonary fibrosis: A new syndrome. 

S. Mercier, S. Kury, J. M. Mussini, A. Magot, B. Isidor, S. 

Barbarot, A. David, S. Bezieau. 

3067W Prenatal diagnosis of a fetus with a 

rare association of a multiple heart and renal 

malformations: Case report. M. Dumitrescu, D. F. Albu, 

C. C. Albu, A. Oncescu, E. Severin. 

3068F Complex chromosomal translocation leading to 

a dual diagnosis of Prader-Willi syndrome and Cri-duchat 

in a 14- year-old boy illustrating the importance of 

re-evaluation in an individual with atypical Prader-Willi 

phenotype. J. A. Gold, S. Ramanathan. 

3069W Molecular characterization of SHOX gene and 

regulatory regions in patients with idiopathic short 

stature from three medical centers in of Bogota, 

Colombia. T. Vinasco, G. Jaimes, M. Coll, C. Cespedes, 

H. Velasco. 

3070F Clinical and molecular characterization of 

non-syndromic craniosynostosis: An international 

consortium approach. M. L. Cunningham, P. A. 

Romitti, C. M. Justice, A. F. Wilson, T. Roscioli, E. 

Oláh, B. Bessenyei, M. R. Passos-Bueno, B. Wollnik, 

A. O. M. Wilkie, S. A. Boyadjiev Boyd, International 

Craniosynostosis Consortium. 

3071W Molecular prenatal diagnosis of a sporadic 

alobar holoprosencephalic fetus: Genotype-phenotype 

correlations. J. Gekas, C. Sergi, D. Kamnasaran. 

3072F Sonic Hedgehog regulatory region deletion in 

a patient with holoprosencephaly. L. Ribeiro-Bicudo, 

R. Quiezi, M. Ansari, K. Williamson, A. Richieri-Costa, D. 

FitzPatrick. 

3073W Associated malformations among infants with 

radial ray deficiency. C. Stoll, B. Dott, Y. Alembik, M. P. 

Roth. 

3074F Orofaciodigital syndrome in a group of patients 

who attended Operation Smile Foundation in Colombia, 

between 2005 and 2012. J. Martinez, I. Briceno, A. 

Venegas, S. Bohorquez, M. Montiel, A. Patiño, L. Arias. 

3075W A new type of acrofacial dysplasia: Prenatal 

diagnosis and autopsy findings. K. Millar, A. Toi, S. 

Keating, P. Shannon, S. Unger, D. Chitayat. 

3076F Development of a visit assessment tool to address 

birth defects and dysmorphology. O. A. Abdul-Rahman, L. 

Hayes, B. Loyola, D. A. Stevenson, S. Astley, C. Chambers, 

K. L. Jones, H. E. Hoyme, F. Waffern, J. C. Carey. 

3077W A new case of craniofacial microsomia autosomal 

dominant associated with complete right side testicular 

and scrotal ectopia. J. Rojas Martínez, J. C. Prieto Rivera. 

3078F A replication study of genome-wide significant 

rheumatoid arthritis susceptibility loci in the Pakistani 

population. S. F. Jalil, A. Bhatti, F. Y. Demirci, X. Wang, I. 

Ahmed, M. Ahmed, M. M. Barmada, J. M. Malik, P. John, 

M. I. Kamboh. 

3079W A novel missense mutation in PARD3 is 

associated with class III malocclusion. T. Nikopensius, 

M. Kals, T. Annilo, T. Jagomägi, M. Saag, A. Metspalu. 

3080F Genotype/phenotype correlation in Smith- 

Magenis syndrome with abnormal 17p deletions. 

T. Vilboux, A. C. M. Smith, S. Chandrasekharappa, C. 

Ciccone, J. Blancato, W. J. Introne, W. A. Gahl, M. Huizing. 


3081W MiR-133a and MiR-422a in human circulating 

monocytes are potential microRNA biomarkers 

underlying postmenopausal osteoporosis. Y. Wang, L. 

Li, B. T. Moore, X. H. Peng, X. Fang, J. M. Lappe, R. R. 

Recker, P. Xiao. 

3082F Genome-wide mosaic paternal uniparental 

isodisomy. J. Kalish, A. Wilkens, S. Mulchandani, E. 

Zackai, N. Spinner, M. Bartolomei, L. Conlin, M. Deardorff. 

3083W The catalase: Influence of C-262 T 

polymorphism on keratoconus. S. Torabi Dalivandan, 

Z. Salehi, S. Saboohi, M. J. Mohammadi Fatideh, H. 

Yourdkhani. 

3084F Metabolic abnormalities in Williams-Beuren 

syndrome patients and candidate genes. M. G. 

Palacios, R. Flores, V. Campuzano, M. del Campo, M. 

Segura-Puimedón, L. A. Perez-Jurado. 

3085W Bilateral radioulnar synostosis and vertebral 

anomalies in a child with a 16p13.3 interstitial deletion. 

T. Slavin, A. Tam, K. Lee, S. Lee, W. Burkhalter. 

3086F ASTN2 deletions in autism spectrum disorder 

and related neuropsychiatric phenotypes. M. T. Carter, 

A. C. Lionel, A. K. Vaags, B. A. Fernandez, W. Roberts, P. 

Szatmari, C. R. Marshall, S. W. Scherer. 

3087W Atypical deletions of the Williams-Beuren 

syndrome region implicate genes involved in mild 

facial phenotype, epilepsy and autistic traits. G. Merla, 

L. Micale, C. Fusco, B. Augello, P. Alfieri, M. C. Digilio, D. 

Menghini, S. Vicari. 

3088F Morphogenesis of the face in Wolf-Hirschhorn 

syndrome: Three elucidative patients. J. Carey, A. 

Calhoun, P. Hammond, A. Lortz, S. South. 

3089W Growth hormone receptor gene polymorphism 

and Prader-Willi syndrome. M. G. Butler, J. Roberts, J. 

Hayes, X. Tan, A. Manzardo. 

3090F Molecular characterization and genotype/ 

phenotype correlation of ten patients with structural 

rearrangements in the NIPBL gene. Y.-W. Cheng, C. Tan, 

K. Arndt, S. Das, D. del Gaudio. 

3091W TSC2-PKD1 contiguous deletion syndrome 

with aortic stenosis and severe myopia. K. Enomoto, Y. 

Sugawara, M. Hotate, Y. Motoyoshi, Y. Hatai, S. Mizutani, 

K. Kurosawa. 

3092F Jacobsen syndrome: Cognitive-behavioral 

profiles, developmental trajectories, and IQ related to 

deletion size. G. Fisch. 

3093W Concurrent deletion of BMP4 and OTX2 

genes: Clinical evidence of synergistic effect of the 

two master genes in ophthalmogenesis. R. Kosaki, T. 

Takenouchi, C. Torii, S. Nishina, K. Kosaki. 

3094F Interstitial deletion of 3.8 Mb in chromosome 

6q25.2-6q25.3 in a patient with Coffin-Siris syndrome. S. 

Mizuno, E. Nishi, Y. Muramatsu, M. Tominaga, K. Kurosawa. 


3095W Detailed neurodevelopmental phenotype of 

a child with a 22q11.2 distal deletion. S. Mosca, L. M. 

Langevin, A. C. Lionel, C. R. Marshall, B. Argiropoulos, A. 

M. Innes, S. W. Scherer, D. Dewey, J. S. Parboosingh, F. 

P. Bernier. 

3096F A de novo 163 kb interstitial 1q44 microdeletion in 

a boy with thin corpus callosum, psychomotor delay and 

seizures. K. Selmer, E. Bryne, O. Rødningen, M. Fannemel. 

3097W Genotype phenotype correlation study of 

2q23.1 microdeletion syndrome and characterization of 

three new patients. L. Zhang, H. T. Bjornsson, D. Batista, 

G. Wiesner, T. Wang, A. Parikh. 

3098F Polycystic kidney disease and a 2.5Mb 

duplication on chromosome 3p22.1. K. Dahan, M. 

Madhoun, M. Gilliaux, V. Benoit, B. Grisart. 

3099W Subtelomeric deletion including the WHSC1 

gene located in the critical region of the Wolf- 

Hirschhorn syndrome. A. L. S. Ludmila Serafim, J. M. 

Pina Neto, l. F. Mazzucatto. 

3100F Atypical form of osteopathia striata with 

cranial sclerosis and increased mineral density in 

an adolescent female with mosaic chromosome 2 

rearrangement. R. Mendoza-Londono, A. Howard, E. 

Sochett, L. Dupius, D. J. Stavropoulos, R. C. C. Wong, S. 

Robertson, A. M. Joseph-George. 

3101W Further evidence of the role of HOXA genes in 

anatomical development. P. A. Mowery-Rushton, R. A. 

Schultz, J. B. Ravnan, J. E. Burton, J. Kussmann, J. A. 

Rosenfeld, B. C. Ballif, L. G. Shaffer. 

3102F 4p16.3 Deletion limited to WHSCR2. N. Okamoto, 

K. Shimojima, T. Yamamoto. 

3103W Array CGH in 190 Korean patients with 

developmental delay and/or intellectual disability: A 

single tertiary care university center study. Y. Sohn, C. 

Lee, S. Park, J. Yun, E. Jung, H. Kim, S. Yim. 

3104F Diagnostic investigation in Rwandan patients 

with MR/MCA. A. Uwineza, J. Hitayezu, L. Mutesa. 

3105W Clinical features and genomic characterization 

of two subjects with a pure duplication of 9q34. H. 

Yoshihashi, M. Ikegami, C. Torii, K. Kosaki. 

3106F Osteopathia striata with cranial sclerosis and 

developmental delay in a male with a mosaic deletion 

in chromosome region Xq11.2. S. Chenier, A. Noor, L. 

Dupuis, D. J. Stavropoulos, R. Mendoza-Londono. 

3107W Keratoconus associated with Williams-Beuren 

syndrome: New case report. M. C. Frasson, M. M. Viana, 

L. L. Leao, M. Stofanko, H. Goncalves-Dornelas, P. S. 

Cunha, M. J. B. Aguiar. 

3108F Minimal interstitial deletion in a patient with de 

novo 15q24 microdeletion syndrome presenting with 

severe scoliosis. X. Gao, C. Johnston, S. Sparagana, C. 

A. Wise. 


POSTER SESSIONS


3109W Microdeletions in 9q33.3-q34.1 may constitute 

a contiguous gene deletion syndrome characterized 

by developmental delay, microcephaly, mild 

dysmorphisms, strabismus, and seizures of incomplete 

penetrance. J. A. Lee, J. K. Ehret, E. Wohlleber, S. Vogt, 

A. M. Zink, E. Rossier, M. Bonin, U. Grasshoff, A. Bevot, M. 

Mathieu-Dramard, G. Plessis, A. de Broca, S. Kanafani, B. 

Röthlisberger, M. Holder-Espinasse, I. Simonic, L. Willatt, P. 

Miny, I. Filges, J. Andrieux, H. V. Firth, A. Dufke, H. Engels. 

3110F Identification and diagnosis of Williams-Beuren 

syndrome in a public genetic center in Brazil. M. M. 

Viana, M. Stofanko, P. S. Cunha, H. Goncalves-Dornelas, 

M. J. B. Aguiar, S. D. J. Pena. 

3111W Implementation of molecular karyotyping 

in routine diagnostics provides new insights into 

the pathophysiology of Silver-Russell syndrome. S. 

Spengler, M. Begemann, N. Ortiz Brüchle, P. M. Kroisel, B. 

Oehl-Jaschkowitz, G. Raabe-Meyer, C. Spaich, P. Blümel, 

U. Moog, K. Zerres, T. Eggermann. 

3112F Clinical, molecular cytogenetic evaluation and 

genotype-phenotype correlation of a patient with 

partial Jacobsen syndrome without thrombocytopenia 

caused by an 13 Mb deletion of del(11)(q24.1). J. Moon, 

J. Kim, J. Kim, M. Nam, S. Yoon. 

3113W Triplication of 7q11.23 distal to the critical 

region for the Williams-Beuren syndrome. J. G. Pappas, 

R. D. Nass, E. Ward, I. K. Gadi. 

3114F A de novo 9.0 Mb deletion at chromosome 

region 10q21.3-q22.3 associated with severe 

psychomotor delay and mild Noonan phenotype: 

A case report. S. Baffini, G. Scarselli, L. Castiglia, M. 

Vinci, S. Amata, M. Fichera, J. D. Barp, E. Gambineri, E. 

Chiappini, M. L. Giovannucci Uzielli. 

3115W A first reported case of a microdeletion in 

8q22.22q23 in Colombia: Phenotypic and genotypic 

correlation. P. Paez, S. Perdomo, X. Rojas. 

3116F A microdeletion of about 831 kb in a young 

woman causes a loss of more than 30 genes on the 

long arm of chromosome 17 including a copy of the 

BRCA1 gene: Implications for genetic counseling and 

clinical management. P. M. Kroisel, J. B. Geigl, M. Mach, 

C. Pischler, E. Vallant, M. R. Speicher, K. Wagner. 

3117W A familial atypical Williams-Beuren deletion 

encopassing ELN and part of LIMK1 gene. B. Demeer, 

F. M. Caron, S. Chenichene, G. Morin, A. Receveur, 

H. Copin, A. de Broca, O. Godefroy, D. Sanlaville, M. 

Mathieu, P. Saugier-Veber. 

3118F 12q21 Deletion syndrome with intellectual 

disability and facial dysmorphism. A. Matsumoto, T. 

Yamagata, Y. Nozaki, E. F. Jimbo, M. Y. Momoi. 

3119W Autism, mild facial dysmorphism, abnormal 

EEG, sleep problems and language impairment in 

interstitial duplication 15q11-q13 syndrome. N. Urraca, 

C. Cleary, E. Pivnick, K. McVicar, V. Brewer, R. Thibert, N. 

C. Schanen, M. C. Esmer, D. Lamport, L. T. Reiter. 

3120F Mucolipidosis III gamma, tuberous sclerosis, 

and polycystic kidney disease caused by a contiguous 

gene deletion on chromosome 16p13.3. J. Barea, L. 

Bird. 

3121W GH deficiency and epilepsy in a patient with a 

19q13.3 duplication encompassing the PTH2, KCNC3 

and KCNA7genes. M. Vincent, C. Jeandel, J. Puechberty, 

C. Coubes, F. Dallavale, F. Rivier, A. Schneider, M. Girard, 

N. Ruiz, M. Tournaire, I. Touitou, G. Lefort, P. Sarda, D. 

Genevieve. 

3122F A large deletion confined to COL4A5 causes 

Alport syndrome and diffuse leiomyomatosis. M.J. 

N. Sá, R. Sousa, F. T. Costa, F. Carvalho, S. Alves, F. 

Carvalho, J. P. Oliveira. 

3123W Genetic study of a family segregating 

Waardenburg-Shah syndrome. L. Cui, H. M. Wong, J. 

Zhu, F. de Almeida M., P. H. Tam, M.-M. Garcia-Barceló. 

3124F Founder effect of spinocerebellar ataxia 

type 7 in a Mexican population. Y. Tapia-Guerrero, 

O. Hernández-Hernández, M. Maldonado-Rodríguez, 

C. Cerecedo-Zapata, N. Leyva, L. Velázquez-Pérez, B. 

Cisneros, J. J. Magaña. 

3125W Study of GJB2, GJB6 and MT-RNR1 m.1555A.G 

in Mexican hearing loss patients. M. Arenas-Sordo, 

I. Menendez, E. Hernández-Zamora, A. Simarci, D. 

Gutierrez, P. Murphy, X. Leyva, F. Huesca, J. Dominguez- 

Aburto, M. Tekin. 

3126F A family with an OPA1 mutation and associated 

hearing loss. C. Williams, H. Stalker, S. Schimpf- 

Linzenbold, B. Wissinger. 

3127W Cerebrocostomandibular syndrome: Clinical 

features of three new cases and preliminary analysis 

of exome sequencing data. D. C. Lynch, E. Lemire, B. 

Chodirker, A. M. Innes, J. S. Parboosingh, F. P. Bernier, 

FORGE Canada Consortium. 

3128F Dandy Walker malformation in a boy with Ellis-van 

Creveld dysplasia. J. Davis, E. Carter, P. Brill, C. Raggio. 

3129W NEK1 and DYNC2H1 are both involved in short 

rib polydactyly Majewski type but not in Beemer 

Langer cases. J. El Hokayem, C. Huber, A. Couve, J. 

Aziza, G. Baujat, R. Bouvier, D. P. Cavalcanti, F. A. Collins, 

M. P. Cordier, A. L. Delezoide, M. Gonzales, D. Johnson, 

M. Le Merrer, A. Levy-Mozziconacci, P. Loget, D. Martin- 

Coignard, J. Martinovic, G. R. Mortier, M. J. Perez, J. 

Roume, G. Scarano, A. Munnich, V. Cormier-Daire. 

3130F Refsum disease: Genotype-phenotype 

correlation of a novel PHYH mutation in a Brazilian 

patient. L. A. R. Gabriel, J. Chiang, R. C. C. Filho, L. G. 

Freitas, M. P. Avila. 

3131W Description of sclerocornea in a patient with 

van den Ende Gupta syndrome and homozygous 

mutation in SCARF2. M. Migliavacca, N. Sobreira, G. 

Antonialli, M. Moysés, M. Melaragno, D. Valle, D. Brunoni, 

A. Perez. 


3132F Two brothers with autosomal-recessive primary 

hypertrophic osteoarthropathy caused by homozygous 

deletion in HPGD gene: Neonatal findings and longterm 

follow-up. B. Tüysüz, S. Yilmaz, K. Bilguvar, O. 

Kasapçopur, E. Gül, M. Günel. 

3133W Germline mosaicism for a 12q24 deletion 

identifies haploinsufficiency of MED13L as a cause of 

hypotonia and moderate developmental delay. R. C. 

Gallagher, S. Scrivner, K. Brown, A. Collins, M. Saenz. 

3134F Genetic analysis of the GBA gene in Japanese 

familial Parkinson’s disease. Y. Li, M. Funayama, T. 

Sekine, L. Li, H. Yoshino, K. Nishioka, H. Tomiyama, N. 

Hattori. 

3135W Manganese-related T1 hyperintensities of the 

basal ganglia in hereditary hemorrhagic telangiectasia 

with iron-deficiency anemia. M. McKinnon, S. Appel- 

Cresswell, B. Jung, S. Langlois. 

3136F CASK aberrations in males with Ohtahara 

syndrome and cerebellar hypoplasia. H. Saitsu, M. 

Kato, H. Osaka, N. Moriyama, H. Horita, K. Nishiyama, T. 

Yoshinori, H. Doi, N. Miyake, K. Hayasaka, N. Matsumoto. 

3137W Unusual presentation of combined saggitalmetopic 

synostosis is caused by mutations in the 

MSX2 gene: Expanding the phenotype of the Bostontype 

craniosynostosis syndrome. O. M. Vanakker, A. 

Janssen, M. J. Hosen, P. Jeannin, P. J. Coucke, A. De 

Paepe. 

3138F Automated preparation of samples for benchtop 

sequencing applications. I. Meek. 

3139W Neurofibromatosis type 1 and infantile 

myofibromatosis: A shared genetic basis or 

independently co-existent entities? S. Krishnamurthi, V. 

Cox, H. Guo, K. Rauen. 

3140F Homozygosity mapping and candidate gene 

cloning identified CLDN10 variation to be possibly 

responsible for congenital ichthyosis: Renal 

hypokalemia in an Algerian family. S. Hadj-Rabia, Y. Al- 

Sarraj, M. Kambouris, C. Bodemer, H. El-Shanti. 

3141W Homozygous mutation of SIX1 associated with 

a severe branchio-oto-renal syndrome phenotype. S. L. 

Sawyer, M. A. Thomas, R. Lamont, L. Dimnik, P. Gordon, 

X. C. Wei, F. P. Bernier, J. S. Parboosingh, A. M. Innes. 

3142F Cardiac malformations associated with germline 

WT1 mutations in children presenting with Wilms’ 

tumor. S. Bowdin, C. Owens, D. Malkin, N. Parkinson, M. 

Friedburg, R. Grant. 

3143W False positive diagnosis of Marfan syndrome in 

adult patient with homocystinuria who fulfilled Ghent 

criteria. S. Dyack, H. MacDonald, K. Schindeler, A. Rideout. 

3144F VCP disease is associated with cytokine 

imbalances in patient plasma. E. Dec, F. Zaldivar, M. 

Wencel, M. Khare, J. Vesa, V. E. Kimonis. 


3145W Further expansion of the Chediak- 

Higashi phenotype: Three adult siblings with 

neurodegenerative disease and homozygous for a 

novel LYST deletion. L. Mehta, C. Cho, F. R. Dembitzer, A. 

Szporn, M. C. Chicka, J. D. Wesfeld-Adams. 

3146F Familial acanthosis nigricans: Phenotypic 

features of aberrant area cutanea and hyperpigmented 

dots identified by dermoscopy. N. Oiso, M. Miyake, K. 

Fukai, A. Kawada. 

3147W Clinical clues to differentiate among severe 

forms of osteogenesis imperfecta. P. Prasun, A. Jay, D. 

Stockton. 

3148F Description of a fetal syndrome associated 

with HNF1B mutation and a wide intrafamilial disease 

variability. M. Rasmussen, I. Vogel, O. B. Petersen, M. 

Ramsing, L. Sunde. 

3149W Novel molecular changes and their associated 

clinical characteristics in Saudi patients with familial 

hemophagocytic lymphohistiocytosis. A. Al-Ahmari, O. 

Alsmadi, L. Elbaik, T. Elamin, B. Al-Saud, S. Al-Shambri, 

M. Al-Awwami, I. Al-Fawaz, M. Ayas, K. Siddiqui, M. 

Viqaruddin, A. Hawwari. 

3150F Hip pathology in Majewski osteodysplastic 

primordial dwarfism type II. M. B. Bober, A. F. Karatas, A. 

L. Duker, K. Rogers, C. Ditro, W. G. Mackenzie. 

3151W Boyadjiev-Jabs syndrome: Clinical and 

molecular characterization of three new patients. S. A. 

Boyadjiev Boyd, S. Kim, L. Bivina, E. Zackai, P. L. Crotwell, 

K. Õunap, J. Kim. 

3152F Schinzel-Gideon syndrome in two Brazilian 

patients: Report of a novel mutation in SETBP1. E. D. F. 

Carvalho, M. Lazar, T. F. Almeida, C. R. D. C. Quaio, G. L. 

Yamamoto, K. M. Rocha, C. A. Kim, M. R. Passos-Bueno, 

D. R. Bertola. 

3153W HOXA10 and HOXA13 sequence variations 

in human female genital malformations including 

congenital absence of the uterus and vagina. A. Ekici, 

C. Büttner, P. Strissel, P. Oppelt, S. Renner, S. Brucker, M. 

Beckmann, R. Strick. 

3154F Establishing a paternal age effect for Crouzon 

syndrome with acanthosis nigricans. T. Greer, C. 

LaDana, P. Barros-Nunez, F. Di Rocco, C. Collet, E. W. 

Jabs, R. L. Glaser. 

3155W Characterization of hyper-IgM syndrome due to 

CD40 deficiency in 11 patients. A. Hawwari, H. Alassiri, 

Z. Al-Sum, A. Al-Ghonaium, S. Al-Muhsen, H. Al-Dhekri, 

R. Arnaout, O. Alsmadi, E. Borrero, A. Abu-staiteh, H. Al- 

Mousa, B. K. Al-Saud. 

3156F New insights into the renal aspects of 

hypotrichosis-lymphedema-telangiectasia syndrome 

caused by a mutation in the SOX18 gene. S. Moalem, M. 

Vikkula, E. Harvey, D. Chitayat. 


POSTER SESSIONS


3157W Missense and synonymous TCF4 mutations 

are responsible for splicing defects in Pitt-Hopkins 

syndrome. M. Nasser, L. Drévillon, A. Briand-Suleau, 

J. Ghoumid, T. Gaillon, V. Bodereau, L. Pasquier, M. 

Goossens, J. Amiel, D. Héron, I. Giurgea. 

3158F Clinical genetics in silico: Use of an electronic 

medical record in an integrated healthcare system 

to identify individuals with undiagnosed Noonan 

syndrome. M. E. Nunes, R. E. Barber, S. K. Kwok, R. R. 

Wilson, D. J. Levy. 

3159W Detailed clinical and orofacial phenotype of 

three families with compound heterozygous WNT10A 

mutations using three-dimensional imaging methods. 

C. W. Ockeloen, C. Vink, S. ten Kate, C. van Heumen, T. 

Kleefstra, C. Carels. 

3160F Tegumentary manifestations in RASopathies 

are common and deserve special attention. C. R. D. C. 

Quaio, A. S. Brasil, A. C. Pereira, C. A. Kim, D. R. Bertola. 

3161W Molecular analysis and expression studies in 

a novel candidate gene for syndromic coloboma. N. 

K. Ragge, A. Wyatt, D. Robinson, D. Bunyan, D. Wong, I. 

Ragoussis. 

3162F Variable expressivity of FREM1-related 

anomalies in a family with novel mutation. A. Singer, A. 

Slavotinek, H. Leiba, S. Josefsberg, C. Vinkler. 

3163W Identification of a KRIT1 p.Gln201Glu mutation 

in a Persian family with multiple cerebral, spinal and 

skin cavernous malformations. S. M. Sperber, D. Fathi, 

M. Shahbazi, M. M. Motahari, B. Friedman, A. Haghighi. 

3164F Novel 3q26 EVI1/MECOM deletion syndrome in a 

newborn with multiple severe congenital abnormalities 

and bone marrow failure. L. T. van der Veken, M. B. 

Bierings, M. C. Maiburg, F. Groenendaal, A. C. Bloem, N. 

V. Knoers, A. Buijs. 

3165W KIAA 2022-related X-linked intellectual deficiency: 

Confirmation of a discrete entity in five patients. L. Van 

Maldergem, V. M. Kalscheuer, M. Doco-Fenzy, A. Medeira, A. 

de Brouwer, E. Landais, L. Villard, J. Dupont. 

3166F Extending the phenotype spectrum of IQSEC2 

mutations: Report of a patient with IQSEC2 intragenic 

duplication and atypical variant of Rett syndrome. M. 

Willems, F. Tran Mau-Them, J. Puechberty, G. Lefort, A. 

Schneider, I. Touitou, M. Girard, M. Tournaire, N. Ruiz- 

Pallares, F. Rivier, S. Drunat, P. Sarda, D. Genevieve. 

3167W Mutations in TGF-beta binding domains in 

the FBN1 gene result in diverse connective tissue 

dysplasia syndromes with short stature. K. H. C. Wu, A. 

Baxter, J. R. Pinner, D. Mowat, T. Dudding, B. Bennetts, K. 

Holman, E. Ormshaw, T. Gayagay, L. C. Adès, C. L. Goff, V. 

Cormier-Daire, D. O. Sillence. 

3168F Clinical and genetic analysis in Chinese patients 

with megalencephalic leukoencephalotathy with 

subcortical cysts. M. Guo, Y. Jiang, H. Xie, Y. Wu, J. 

Shang, Q. Gu, X. Wu, J. Wang. 

3169W Skeletal clinical characteristics of osteogenesis 

imperfecta caused by haploinsufficiency mutations in 

COL1A1. I. M. Benamor, P. Roughley, F. H. Glorieux, F. Rauch. 

3170F A new dominant frontonasal dysplasia with 

major posterior cranial defect. S. Odent, S. Mercier, 

M. de Tayrac, J. Mosser, P. Loget, C. Rozel, S. Jaillard, 

J. Milon, L. Riffaud, G. Le Bouar, P. Poulain, E. Martin, C. 

Dubourg, V. David. 

3171W Cerebrovascular changes in a patient with 

Noonan syndrome and a RAF1 mutation. Y. Zarate, A. 

Lichty, G. Matheus, K. Champion, K. Clarkson, K. Holden. 

3172F EFTUD2 haploinsufficiency leads to syndromic 

esophageal atresia. J. Amiel, C. Gordon, M. Oufadem, C. 

Decaestecker, A.-S. Jourdain, J. Andrieux, V. Malan, J.-L. 

Alessandri, C. Baumann, O. Boute-Benejean, B. Delobel, 

D. Lacombe, S. Mehta, I. Simonic, F. Escande, N. Porchet, 

S. Manouvrier-Hanu, F. Petit, A. Munnich, M. Vekemans, S. 

Lyonnet, L. de Pontual, M. Holder-Espinasse. 

3173W Al-Awadi/Raas-Rothshild/Schinzel-Fuhrman 

spectrum phenotypes in patients with no mutations 

in WNT7A. O. Caluseriu, E. Sherridan, K. M. Girisha, J. 

Parboosingh, A. M. Innes, F. P. Bernier. 

3174F A long polyphenilalanine repeats expansion 

in the RUNX2 gene in a patient with cleidocranial 

dysplasia. M. Michelson-Kerman, E. Leshinsky-Silver, D. 

Lev, A. Singer, C. Vinkler. 

3175W Novel mutation in the ADAMTSL4 gene in a child 

with bilateral ectopia lentis and aortic root dilatation: 

Expandingthe phenotype? R. L. Sanchez, Z. Ammous, 

P. Jayakar. 

3176F Mutations in DMD gene identified during clinical 

evaluation of patients with autism and/or global 

developmental delay. J. Moeschler, S. Upton, J. Ozmore. 

3177W Copy number variants in monozygotic twins 

with neurofibromatosis 1. E. Schorry, E. Sites, D. 

Viskochil, D. Stevenson, N. Ullrich, T. Smolarek, L. Martin. 

3178F A novel synonymous mutation causing aberrant 

splicing on the SLC26A4 gene in a Korean patient with 

a hearing loss. Y. Kim, J. Kim, J. Y. Choi, K.-A. Lee. 

3179W Overlapping anophthalmia syndromes: SOX2, 

the new kid on the block. A. Schneider, T. Bardakjian. 

3180F Distinct clinical and neurological features in a 

Korean boy with Schinzel - Giedion syndrome caused 

by a de novo SETBP1 mutation. J. M. Ko, B. C. Lim, K. J. 

Kim, Y. S. Hwang, C. H. Chae. 

3181W Crisponi syndrome in a Turkish newborn: A 

possible founder mutation in the CRLF1 gene? V. 

Benoit, P. Hilbert, M. Deprez, A. Charon, I. Maystadt, S. 

Moortgat. 

3182F Interference with IS-PCR assays for Inv22 

testing of hemophilia A. T. Lewis, G. Pont-Kingdon, Y. 

Louie, J. Swenson. 


3183W Complex ear abnormalities, choanal atresia, 

coloboma and renal hypoplasia in a patient with 

mutations in CHD7 and EYA1 and microdeletion of 

2q23.1. R. Badilla-Porras, L. Dupuis, T. Stockley, D. J. 

Stavropoulos, R. Mendoza-Londono. 

3184F Severe CHST3 mutations in two Brazilian 

families with spondyloepiphyseal dysplasia with 

congenital joint dislocations. W. A. R. Baratela, T. F. 

Almeida, G. L. Yamamoto, J. H. Marques, O. Letaif, A. C. 

Pereira, C. A. Kim, D. R. Bertola. 

3185W Computer-aided facial recognition of 

individuals with FG (Opitz-Kaveggia) syndrome caused 

by p.Arg961Trp mutation in MED12. L. Basel-Vanagaite, 

L. Karlinsky, L. Wolf, M. Shohat, C. Skinner, C. Rogers, R. 

Stevenson, C. M. Schwartz, J. M. Graham, Jr. 

3186F Hand abnormalities in Loeys-Dietz syndrome: 

Expanding the clinical spectrum. B. Chung, A. Hinek, T. 

Bradley, L. Grossse-Wortmann, S. Blaser, D. Chitayat. 

3187W Gorlin syndrome: Three unrelated female Mexican 

cases. N. O. Dávalos, S. A. Alonso Barragan, I. M. Salazar- 

Dávalos, M. A. Aceves-Aceves, S. A. Ramirez-Garcia, L. R. 

Topete -Gonzalez, D. A. Fierro-Rodriguez, D. M. Prado, A. R. 

Rincon-Sanchez, I. P. Dávalos, D. García-Cruz. 

3188F Diamond-Blackfan anemia: A case report and 

seven-year follow up. M. G. González-Mercado, L. 

Bobadilla-Morales, N. O. Dávalos, D. García-Cruz, A. Corona- 

Rivera, C. E. Monterrubio-Ledezma, I. M. Salazar-Dávalos, A. 

González-Mercado, M. A. Aceves-Aceves, I. P. Dávalos. 

3189W Familial Beare-Stevenson cutis gyrata 

syndrome in the absence of craniosynostosis. E. Leon, 

J. Jung, M. Ririe, D. Stevenson. 

3190F Report of a novel mutation in the SLC26A2 gene 

found in a Colombian adult patient with diastrophic 

dysplasia. T. Pineda, A. Rossi, L. Bonafè, A. Superti- 

Furga, H. Velasco. 

3191W Intragenic NSD1 duplication of exons 14-17 in a 

patient with Sotos syndrome. S. Ramanathan, R. D. Clark. 

3192F Craniosynostosis as a bone anomaly of Kabuki 

syndrome. A. Shimada, I. Tamada, H. Yoshihashi. 

3193W The variable spectrum of SMAD4 mutations. J. 

van den Ende, N. Van der Aa, T. Boiy. 

3194F A new frontonasal dysplasia syndrome 

associated with SIX2 deletion. S. L. Zimmerman, H. M. 

Saal, Z. M. Ahmed, R. B. Hufnagel. 

3195W Importance of orofacial features and the role 

of dentistry in the early diagnosis of developmental 

disorders. Z. ÷ncel Torun, D. Torun, K. Karaer, R. O. Rosti. 

3196F Renin receptor/ATP6AP2 gene mutation: An 

X-linked cause of mental retardation, postnatal 

microcephaly and intractable seizures. D. Chitayat, K. 

Sirewanda, R. Mendoza, S. Blaser, J. Raiman, J. Jessen, 

E. Donner, C. Schwartz. 


3197W SCN1B sequence variations in Iranian patients 

with epilepsy, causality or susceptibility? A. Ebrahimi, 

M. Moghaddasi, M. Houshmand, S. Zeinali, S. H. 

Tonekaboni, M. S. Fallah, M. Mamarabadi. 

3198F A novel KCNQ2 mutation in a Mexican-American 

family with benign familial neonatal convulsions. A. 

Sznewajs, E. Rider, E. Sherr. 

3199W Coronal craniosynostosis and radial ray 

hypoplasia: A third report of TWIST mutation in a 

33-week fetus with diaphragmatic hernia. J. Piard, C. 

Collet, F. Arbez-Gindre, L. Van Maldergem. 

3200F Identification of a novel gene causing fetal 

akinesia deformation sequence. M. M. Weiss, G. Tan, M. 

Smit, J. I. de Vries, J. P. vd Voorn, I. Kluijt, E. Sistermans, 

H. Meijers-Heijboer, S. Groffen, Q. Waisfisz. 

3201W Identification of a new syndrome with severe type 

of cutaneous photosensitivity, mild mental retardation 

and short stature caused by KIAA1530 (UVSSA) gene. R. 

Sharifi, A. Ahmadi, E. Ozkan, R. Maroofian. 

3202F Infantile cerebral and cerebellar atrophy 

population screening using PCR-RFLP method. V. Adir, 

E. Shahak, E. Golinker, N. Ekhilevitch, Z. U. Borochowitz. 

3203W Genotype-phenotype correlation of enlarged 

vestibular aqueduct syndrome. R. Birkenhager, S. Arndt, 

W. Maier, A. Aschendorff, E. Löhle, R. Laszig. 

3204F Molecular diagnosis of congenital muscular 

dystrophies with defective glycosylation of alpha 

dystroglycan using next-generation sequencing 

technology. J. Chae, B. Lim, J. Ko, J. Choi, M. Wo, W. 

Park, B. Min. 

3205W Various clinical manifestations in 40 cases with 

type 1 neurofibromatosis. C. K. Cheon. 

3206F Mutation analysis results of 5� reductase type 

2 enzyme deficiency patients. H. Onay, D. Goksen, A. 

Aykut, F. Hazan, S. Darcan, F. Ozkinay. 

3207W Griscelli syndrome with RAB 27A mutation and 

prenatal diagnosis. I. Panigrahi, R. Suther, B. Behera, A. 

Rawat, R. Marwaha. 

3208F Molecular diagnosis of rare Mendelian diseases 

using whole exome sequencing. B. Rodríguez-Santiago, 

S. Boronat, J. Argente, I. Valenzuela, M. del Campo, L. A. 

Perez-Jurado, L. Armengol. 

3209W Next-generation sequencing for low and 

high-bone density disorders. G. Sule, P. Campeau, S. 

Nagamani, B. Dawson, M. Grover, C. Bacino, J. Lu, E. 

Lemire, R. Gibbs, D. Cohn, V. Zhang, L. Wong, B. Lee. 

3210F Molecular diagnosis of autosomal dominant 

polycystic kidney disease using massively parallel 

sequencing. Y. Tan, A. Michaeel, G. Liu, J. Blumenfield, S. 

Donahue, T. Parker, D. Levine, H. Rennert. 


POSTER SESSIONS


3211W Genotype-phenotype correlation in Bardet- 

Biedl syndrome. E. Forsythe, K. Sparks, M. S. B. Huda, 

J. Hazlehurst, S. Mujahid, P. Carroll, B. McGowan, J. W. 

Tomlinson, S. Mohammed, P. L. Beales. 

3212F Photoreceptor loss in LCR-deletion associated 

blue cone monochromacy: Implications for gene 

therapy. R. B. Hufnagel, A. Dubra, R. A. Sisk, J. C. 

Gardner, S. Riazuddin, A. J. Hardcastle, A. T. Moore, J. 

Neitz, M. Michaelides, M. Neitz, J. Carroll, Z. M. Ahmed. 

3213W VCP-associated inclusion body myopathy 

with Paget disease of bone and/or frontotemporal 

dementia: Expanding natural history and genotypephenotype 

characterization. M. Khare, S. G. Mehta, R. 

Ramani, G. J. Watts, B. Martin, M. Simon, K. E. Osann, S. 

Donkervoort, E. Dec, A. Nalbandian, A. Wang, T. Mozaffar, 

C. D. Smith, V. E. Kimonis. 

3214F A novel short stature syndrome caused by 

defects in glycosaminoglycan synthesis due to altered 

xylosyltransferase 1 activity. J. Schreml, B. Durmaz, 

O. Çog˘ ulu, K. Keupp, F. Beleggia, E. Pohl, E. Milz, G. 

Nürnberg, P. Nürnberg, J. Kuhn, M. Coker, S. Kalkan Ucar, 

F. Özkinay, B. Wollnik. 

3215W Case studies for the clinical diagnosis of rare, 

congenital, pediatric disorders by whole genome 

sequencing. S. Szelinger, V. Narayanan, H. Boman, A. F. 

Hahn, J. J. Corneveaux, A. L. Siniard, A. A. Kurdoglu, M. J. 

Huentelman, D. W. Craig. 

3216F Variable phenotypic spectrum in a cohort 

of patients with ARID1B mutations. S. Boulanger, L. 

Mariage, D. Lederer, S. Moortgat, A. Destree, P. Hilbert, I. 

Maystadt. 

3217W Whole exome sequencing in patients with 

intellectual disabilities. I. Madrigal, U. Liljedahl, M. I. 

Alvarez, O. Karlberg, L. Rodriguez-Revenga, A. Mur, A.-C. 

Syvänen, M. Mila. 

3218F Identification of the p.A140V mutation in MECP2 

gene in a family with non specific X-linked mental 

retardation. I. Maystadt, S. Boulanger, P. Vrielynck, S. 

Moortgat, A. Destree, D. Lederer. 

3219W Whole exome sequencing identifies titin (TTN) 

mutations as a cause of centronuclear myopathy. 

O. Ceyhan, P. B. Agrawal, K. Schmitz, E. DeChene, K. 

Markianos, A. H. Beggs. 

3220F Unexpected EGFR3 variants confounding 

achondroplasia mutation detection. A. Millson, A. F. 

Rope, E. Lyon. 

3221W Analysis of C9orf72 repeat expansion in 

Japanese patients with ALS. K. Ogaki, Y. Li, N. Atsuta, 

H. Tomiyama, M. Funayama, H. Watanabe, R. Nakamura, 

H. Yoshino, S. Yato, A. Tamura, Y. Naito, A. Taniguchi, K. 

Fujita, Y. Izumi, R. Kaji, N. Hattori, G. Sobue, Japanese 

Consortium for Amyotrophic Lateral Sclerosis Research 

(JaCALS). 

3222F Three pycnodysostosis cases with a novel 

mutation in cathepsin K gene. T. Ozdemir, T. Atik, E. 

Karaca, H. Onay, F. Ozkinay, O. Cogulu. 

3223W Application of next-generation sequencing for 

mutation detection in autosomal dominant polycystic 

kidney disease. H. C. Park, A. Kang, J. Y. Jang, Y. Hwang, 

H. Kim, M. Han, D. K. Kim, K. Oh, W. Park, H. I. Cheong, 

C. Ahn. 

3224F Whole exome sequencing identifies a missense 

mutation in SEPT2 as a probable cause of a new 

autosomal dominant syndrome with distinctive face, 

ear anomalies, and learning disability. A. Rump, 

K. Hackmann, A. Dahl, A. Fischer, M. Schweiger, M. 

Schilhabel, A. ElSharawy, A. Franke, E. Schrock, N. Di 

Donato. 

3225W Oculocutaneous albinism (OCA1A/B): Founder 

mutations in the tyrosinase gene in Colombia. O. 

Urtatiz, D. Sanabria, M. C. Lattig. 

3226F Ophthalmologic findings in Mexican patients with 

myotonic dystrophy type I. P. Barojas, J. J. Magaña, 

G. Ortega, N. Leyva, B. Cisneros, O. Hernández-Hernández, 

E. Barojas. 

3227W Molecular diagnosis of myotonic dystrophy 

type I by PCR Southern method. G.-H. Kim, J.-J. Lee, 

S.-H. Choi, J.-Y. Lee, J.-M. Kim, Y.-M. Kim, B. H. Lee, 

H.-W. Yoo. 

3228F Mutations in FOXP2 cause childhood apraxia 

of speech: Report of a novel intragenic deletion in 

an Australian patient. M. S. Hildebrand, S. Turner, J. 

Damiano, R. J. H. Smith, M. Bahlo, I. E. Scheffer, A. T. 

Morgan. 

3229W Exome sequencing identifies a novel MRE11 

mutation in a patient with generalized myoclonic 

tremor. R. Miyamoto, H. Morino, H. Maruyama, Y. Izumi, 

R. Kaji, H. Kawakami. 

3230F Pathophysiological features of dermatan 

4-O-sulfotransferase 1-deficient Ehlers-Danlos 

syndrome. T. Kosho, S. Mizumoto, M. Kobayashi, Y. 

Fujita, J. Nakayama, N. Miyake, Y. Nomura, A. Hatamochi, 

Y. Fukushima, K. Sugahara, N. Matsumoto. 

3231W Rupture of chordae tendineae as an initial 

presentation of an haploinsufficiency mutation in 

COL3A1. Z. Xu, B. F. Griswold, L. J. Sloper, A. S. Shah, N. 

B. McDonnell. 

3232F Prenatal diagnosis and identification of 

heterozygous frameshift mutation in PRRX1 in an infant 

with agnathia-otocephaly. M. Donnelly, E. Todd, M. 

Wheeler, V. D. Winn, D. Kamnasaran. 

3233W Identification of the disease causing gene in 

a familial autosomal recessive form of congenital 

nystagmus by exome sequencing. B. Isidor, J. 

Albuisson, S. Bezieau. 


3234F Identification of X-linked RPGR ORF15 

mutations in females diagnosed with autosomal 

dominant retinitis pigmentosa. J. D. Churchill, S. J. 

Bowne, L. S. Sullivan, R. A. Lewis, D. K. Wheaton, D. G. 

Birch, K. E. Branham, J. R. Heckenlively, S. P. Daiger. 

3235W A recurrent 143 kb duplication in TSPAN7 as 

a possible cause of intellectual disability. J. Hoyer, M. 

Krumbiegel, C. Kraus, A. Reis. 

3236F Alpha thalassemia /mental retardation X linked: 

An uncommon presentation. U. H. Kotecha, R. Puri, C. 

Badens, I. C. Verma. 

3237W Proteolipid protein 1 gene mutation in 44 

Chinese patients with Pelizaeus-Merzbacher disease 

and prenatal diagnosis of five fetuses in three Chinese 

families with PMD probands. J. Wang, D. Li, Y. Wu, H. 

Zhao, J. Shang, J. Qin, F. Fang, X. Wu, Y. Jiang. 

3238F Four years of data from the California Cystic 

Fibrosis Newborn Screening Program and experiences 

of the Sutter CF Center. M. Tsang, B. Chipps, M. 

Kharrazi, K. Pearson, S. O’Bra. 

3239W Polymicrogyria awareness is a critical first 

step in facilitating early diagnosis and intervention for 

those affected by this rare congenital brain anomaly. C. 

Byrge, A. Perszyk, PMG Awareness Organization, Inc. 

3240F Novel KIF7 mutations extend the phenotypic 

spectrum of acrocallosal syndrome. A. Putoux, S. 

Nampoothiri, V. Cormier-Daire, N. Laurent, P. Beales, A. 

Schnizel, D. Bartholdi, C. Alby, S. Thomas, N. Elkhartoufi, J. 

Litzler, F. Encha-Razavi, R. Kannan, A. Munnich, L. Faivre, 

N. Boddaert, A. Rauch, M. Vekemans, T. Attie-Bitach. 

3241W Goldberg-Shprintzen syndrome: KBP, the 

KIAA1279 encoding protein, is located to cytoskeleton, 

but not to mitochondria. L. Drévillon, A. Megarbane, B. 

Demeer, C. Matar, P. Benit, A. Briand-Suleau, J. Ghoumid, 

M. Nasser, V. Bodereau, M. Doco-Fenzy, P. Rustin, D. 

Gaillard, M. Goossens, I. Giurgea. 

3242F Craniofacial and dental development in cardiofacio-cutaneous 

syndrome: The importance of Ras 

signaling homeostasis. A. Goodwin, S. Oberoi, M. 

Landan, C. Charles, J. Groth, A. Martinez, C. Fairley, W. E. 

Tidyman, L. A. Weiss, O. D. Klein, K. A. Rauen. 

3243W Sotos syndrome diagnosis confirmed by aCGH. 

F. I. Sahin, Y. K. Terzi, M. Derbent. 

3244F Expanding (or narrowing) the phenotype of 

Beckwith-Wiedemann syndrome. E. Todd, G. Bellus. 

3245W Genetic studies in VACTERL association. 

J. Winberg, P. Gustavsson, E. Sahlin, G. Annerén, 

E. Iwarsson, P.-J. Svensson, F. Bradley, E. Nordenskjöld, 

N. Papadogiannakis, A. Nordgren, A. Nordenskjöld. 

3246F A homozygous AHI1 mutation in a Moroccan 

consanguineous Joubert syndrome family. L. Baala, S. 

Chafai Elalaoui, M. Chalon, N. Elkhartoufi, M. Mansouri, Y. 

Kriouele, O. Perche, S. Briault, T. Attie, A. Sefiani. 


3247W Twin discordance and congenital 

hydrocephalus. C. Lee, J. T. C. Shieh. 

3248F Hallermann-Streiff Syndrome: Case report from 

Mongolia. P. Erkhembulgan, M. Purevdorj, T. Altansukh, I. 

Purevdorj. 

3249W Global gene profiling identifies a novel 

cytoskeleton pathway involved in VCP-associated 

myopathy. A. Nalbandian, S. Ghimbovschi, S. Radom- 

Aizik, E. Hoffman, V. Kimonis. 

3250F External validation of the Bartholdi clinical 

scoring system for Silver-Russell syndrome: A report 

of a Brazilian cohort. G. L. Yamamoto, A. Bonaldi, A. M. 

Vianna-Morgante, I. Gomy, C. A. Kim, D. R. Bertola. 

Evolutionary and Population Genetics 

3251W Copy number differences of putative regulatory 

elements shape primate expression profiles. R. Iskow, 

O. Gokcumen, A. Abyzov, J. Malukiewicz, Q. Zhu, A. 

T. Sukumar, A. A. Pai, R. E. Mills, L. Habegger, D. A. 

Cusanovich, M. A. Rubel, G. H. Perry, M. Gerstein, A. C. 

Stone, Y. Gilad, C. Lee. 

3252T Linkage disequilibrium, population structuring 

and genome-wide association studies reveal 

metabolism and craniofacial dysmorphology mutations 

in the domestic cat. L. A. Lyons, H. Alhaddad, B. 

Gandolfi, R. A. Grahn. 

3253F Genome-wide scan for identifying selection 

footprints in immune related pathways. J. Molineros, 

S. Nath. 

3254W Signatures of selection surrounding large 

insertions and deletions in coding regions identified 

between modern and Denisovan humans, as well 

as four other species of primates genome-wide. W. 

Guiblet, K. Zhao, D. Ferrer-Torres, C. T. Ruiz-Rodriguez, A. 

Roca, S. Massey, J. C. Martínez-Cruzado, T. Oleksyk. 

3255T An optimized panel for ancestry informative 

markers derived from the Mexican Genome Diversity 

Project. J. C. Fernandez-Lopez, A. V. Contreras, M. J. 

Gómez-Vázquez, C. Rangel-Escareño, I. Silva-Zollezzi. 

3256F A fish-specific transposable element shapes the 

repertoire of p53 target genes in zebrafish. M. N. Loviglio, 

L. Micale, M. Manzoni, C. Fusco, B. Augello, E. Migliavacca, 

G. Cotugno, E. Monti, G. Borsani, A. Reymond, G. Merla. 

3257W Meiotic recombination hotspots in humans: 

Dynamics and controlling factors. L. Odenthal-Hesse, 

A. J. Jeffreys. 

3258T The MHC linkage haplotype in the Finnish 

population. A. Wennerström, M. L. Lokki, MHC Disease 

Research Group. 

3259F Fine-scale mapping of meiotic recombination in 

Mongolians and Koreans. T. Bleazard, Y. S. Ju, J. Sung, 

J. S. Seo. 


POSTER SESSIONS


3260W Heterogeneity in recombination among African 

populations. M. Capredon, J. Hussin, J. Quinlan, Y. 

Idaghdour, L. Barreiro, T. de Malliard, J. C. Grenier, E. 

Gbeha, P. Awadalla. 

3261T Linkage disequilibrium patterns in a Brazilian 

population: A comparison of X chromosome STR 

markers with autosomal and Y chromosome STR 

markers. S. Oliveira, C. Mendes-Júnior, A. Trindade-Filho. 

3262F Association of (CCTTT)n polymorphism in the 

NOS2A gene with tuberculosis in two population 

groups of India. M. Jena, P. Das, R. Bamezai. 

3263W Purifying selection in mitochondrial proteincoding 

genes is highly effective in mammals and 

congruent with evolution of nuclear genes. S. I. 

Nikolaev, K. Popadin, T. Junier, M. Baranova, S. E. 

Antonarakis. 

3264T Molecular phylogeny of an autosomal region 

under natural selection. V. A. Canfield, A. Berg, S. 

Peckins, S. Oppenheimer, K. C. Cheng. 

3265F MtDNA analysis of global populations supports 

that major population expansions began before 

Neolithic time. H. Zheng, S. Yan, Z. Qin, L. Jin. 

3266W Different DNA methylation of FOXP2 target 

genes in adult cortices of humans and chimpanzees. 

U. Zechner, D. Seifert, E. Schneider, N. El Hajj, B. Navarro, 

I. Kondova, R. E. Bontrop, O. Bartsch, T. Haaf. 

3267T Skin color variation in the Orang Asli Tribes of 

Peninsular Malaysia. K. C. Ang, M. S. Ngu, K. P. Reid, 

M. S. Teh, A. S. Zamzuraida, D. X. R. Koh, A. Berg, S. 

Oppenheimer, S. Hood, M. M. Clyde, B. M. Md-Zain, V. A. 

Canfield, K. C. Cheng. 

3268F Exome and RNA sequencing of French- 

Canadians reveals an excess of rare variants that are 

enriched at functionally important sites. A. Hodgkinson, 

F. Casals, Y. Idaghdour, J. Hussin, V. Bruat, T. de Malliard, 

J.-C. Grenier, J.-P. Goulet, E. Gbeha, E. Hip-Ki, S. Girard, 

J.-F. Spinella, V. Saillour, D. Sinnett, G. Rouleau, P. 

Awadalla. 

3269W Evidence for selection at the BDNF Val66Met 

polymorphism in 1000 Genomes Project populations. 

C. V. Van Hout, A. G. Clark. 

3270T Mobile element evolution of the Callithrix 

jacchus (common marmoset). M. K. Konkel, J. A. 

Walker, B. Ullmer, R. Hubley, A. F. A. Smit, M. A. Batzer for 

Marmoset Genome Sequencing and Analysis Consortium. 

3271F Association of GSTT1, MI and M3 gene 

polymorphism with age and quantity of smoke in 

Northern Indian COPD patients. R. K. Shukla, S. Kant, S. 

Bhattacharya, B. Mittal. 

3272W Polymorphic miRNA genomic sequences 

embedded in CNV sites: A prospective screening in 

Brazilian admixed population sample. T. C. L. Lins, D. E. 

Jimenez, A. P. M. Barbosa, R. W. Pereira. 

3273T Ascertainment bias in microsatellites: Impact on 

estimates of mutation rates. B. Li, M. Kimmel. 

3274F Characterizing recent evolutionary changes on 

the human lineage using the high-coverage Denisovan 

genome. F. Racimo, M. Kircher, J. Kelso, S. Pääbo, 

Archaic Genome Analysis Consortium. 

3275W Recurrent tissue-specific mtDNA mutations are 

common in humans. S. M. Williams, D. C. Samuels, B. Li, 

Z. Song, E. Torstenson, A. Rokas, T. A. Thornton-Wells, J. 

H. Moore, T. M. Hughes, R. D. Hoffman, J. L. Haines, D. P. 

Mortlock, C. Li. 

3276T Associations of human leukocyte antigen G with 

resistance and susceptibility to HIV-1 infection in the 

Pumwani Sex Worker Cohort. M. Luo, W. Turk, J. Kimani, 

C. Wachihi, T. Bielawny, T. Ball, F. Plummer. 

3277F Alleles at the rs3212368 SNP at the 3’UTR of the 

MC1R gene are associated with human pigmentation 

by possible microRNA influence. L. A. Marano, A. L. 

Simões, E. A. Donadi, C. T. Mendes-Junior. 

3278W Targeted re-sequencing of 328 inherited 

disease-associated genes in a family trio and HapMap 

populations using the Ion AmpliSeq Inherited 

Disease Panel and Ion PGM semiconductor 

sequencing. I. Casuga, B. Kong, D. Joun, S.-M. Chen, 

C.-Y. Li, D. Ruff, R. Bennet, M. Shannon. 

3279T Sequencing of an extended pedigree in Western 

chimpanzees. O. Venn, I. Turner, Z. Iqbal, I. Mathieson, N. 

de Groot, G. McVean. 

3280F Allelic and genotypic associations of SNPs of 

the OCA2 and HERC2 genes with eye, hair and skin 

pigmentation and the presence of freckles in Brazil. E. 

S. Andrade, N. C. A. Fracasso, P. S. Strazza Júnior, A. L. 

Simões, C. T. Mendes-Junior. 

3281W AKT3, ANGPTL4, eNOS3, and VEGFA 

associations with high altitude sickness in Han and 

Tibetan Chinese at the Qinghai-Tibetan Plateau. N. 

Buroker, X.-H. Ning, Z.-N. Zhou, K. Li, W.-J. Cen, X.-F. Wu, 

W.-Z. Zhu, C. R. Scott, S.-H. Chen. 

3282T A population genetic measure of the de novo 

mutation rate using identity-by-descent estimates. C. W. 

K. Chiang, J. Li, M. G. Ehm, M. R. Nelson, J. Novembre. 

3283F Determination of PON1 and P2RY12 

polymorphisms distribution in Hungary living 

population samples. B. Melegh, I. Janicsek, Cs. Sipeky, 

B. Duga, B. I. Melegh, L. Jaromi, L. Magyari, J. Bene. 

3284W Mapping the genetic diversity of HLA haplotype 

in Asia populations. W. Y. Saw, R. T. H. Ong, C. C. Khor, 

N. Kato, Y. Y. Teo. 

3285T Long runs of homozygosity contain a higher 

fraction of all genome-wide deleterious homozygotes 

relative to the fraction of all genome-wide nondamaging 

homozygotes. Z. A. Szpiech, J. Xu, T. J. 

Pemberton, W. Peng, S. Zöllner, N. A. Rosenberg, J. Z. Li. 


3286F The genetic structure of Western Balkan 

populations based on autosomal and haploid markers. 

K. Tambets, L. Kovacevic, D. Primorac, G. Lauc, A. 

Leskovac, Z. Jakovski, K. Drobnic, S. Kovacevic, T. Bego, 

E. Metspalu, D. Marjanovic, R. Villems. 

3287W Analysis of TLR4 SNPs 299 and 399 in a 

population of full-term Wisconsin infants. D. Pillers, J. 

DeValk, M. Baker, S. Schrodi, S. Tokarz. 

3288T Using Time to Most Recent Common Ancestor 

to detect selection in population samples of wholegenome 

sequences. H. Hunter-Zinck, A. G. Clark. 

3289F Estimating inbreeding coefficients from NGS 

data: Impact on genotype calling and allele frequency 

estimation. F. G. Vieira, M. Fumagalli, A. Albrechtsen, R. 

Nielsen. 

3290W Maternal genetic variation near PRKAA1 

and EDNRA is associated with birth weight among 

residents of high altitude. A. W. Bigham, M. J. Wilson, 

V. A. Browne, C. G. Julian, E. Vargas, C. Rodriquez, M. D. 

Shriver, L. G. Moore. 

3291T Selective turnover in human regulatory regions: 

Out with the old, in with the new. L. D. Ward, M. Kellis, 

ENCODE Project Consortium. 

3292F Signs of high populational differentiation on the 

major histocompatibility complex region on Native 

South American populations. K. Nunes, E. J. M. Santos, 

J. F. Guerreiro, D. Meyer. 

3293W High diversity of ADH1B gene among the 

Tibetans. L. Kang, L. Yan, K. Hu, F. Chen, H. Li. 

3294T Natural selection increases mutational 

robustness in complex diseases: Mendelian evidence 

from early versus late onset common diseases. B. E. 

Baysal. 

3295F Evolutionary role of the human skull: comparing 

neutral and selective markers. D. V. Bernardo, T. F. 

Almeida. 

3296W Characterization of human-specific duplicated 

neural genes suggests a model of functional 

antagonism. M. Y. Dennis, F. Antonacci, C. Golzio, J. 

Huddleston, T. A. Graves, P. H. Sudmant, D. W. Raible, N. 

Katsanis, R. K. Wilson, E. E. Eichler. 

3297T A genetic mechanism for Tibetan high-altitude 

adaptation. C. D. Huff, F. R. Lorenzo, M. Myllymäki, S. 

Swierczek, M. E. Salama, G. L. Semenza, V. Gordeuk, J. 

Xing, T. S. Simonson, L. B. Jorde, P. Koivunen, J. T. Prchal. 

3298F Selection and migration in spatially structured 

populations. I. Mathieson, G. McVean. 

3299W Evidence of recent positive selection in 

Africans at known and novel BMI loci. T. Edwards, G. 

J. Papanicolaou, K. North, D. R. Velez Edwards, African 

American BMI Consortium. 


3300T Characterizing the adaptation to high altitude in 

Tibetans. E. Huerta-Sanchez, X. Jin, B. Peter, Y. Liang, M. He, 

X. Yi, A. Asan, Y. Shan, P. Ni, J. Wang, R. Nielsen, J. Wang. 

3301F Recent positive selection of HLA-DPB1*04:01 

in Japanese population. M. Kawashima, J. Ohashi, N. 

Nishida, K. Tokunaga. 

3302W Haplotype signatures of negative selection. D. 

Ortega Del Vecchyo, J. Novembre. 

3303T Genome-wide signatures of natural selection in 

diverse African populations. L. B. Scheinfeldt, S. Soi, C. 

Lambert, D. Hu, A. Coulibaly, H. Hutton, C. Elbers, W. Ko, 

W. Beggs, A. Ranciaro, S. Thompson, J. Hirbo, J. Bodo, O. 

Doumbo, M. Ibrahim, A. Froment, G. Lema, T. Nyambo, S. 

Omar, C. Wambebe, D. Meskel, G. Belay, S. A. Tishkoff. 

3304F Contrasting selective forces shaping the type-II 

C-type lectin receptor family. H. Quach, S. Fornarino, G. 

Laval, L. Quintana-Murci. 

3305W Balancing selection in the human genome. M. 

DeGiorgio, K. E. Lohmueller, R. Nielsen. 

3306T Reproduction and immunity-driven natural 

selection in the hominid WFDC locus. Z. Ferreira, 

S. Seixas, A. Andres, W. Kretzschmar, J. Mullikin, W. 

Swanson, M. K. Gonder, S. Tishkoff, A. Stone, A. G. Clark, 

E. Green, B. Hurle, NIH Intramural Sequencing Center. 

3307F Identification of hypoxia-tolerance regions in 

high-altitude populations. R. Ronen, N. Udpa, D. Zhou, 

T. Stobdan, O. Appenzeller, K. Frazer, J. Liang, Y. Li, V. 

Bafna, G. Haddad. 

3308W Positive selection on base excision repair 

pathway in Yoruba and British populations. M. Wang, R. 

Li, Y. He, L. Jin. 

3309T Expression quantitative trait loci are adaptive to 

multiple environmental factors. K. Ye, Z. Gu. 

3310F Balancing selection on a non-coding region with 

regulatory function. Q. Zhu, O. Gokcumen, L. Mulder, R. 

Iskow, C. Austermann, M. Steward, C. Scharer, T. Raj, J. 

Boss, S. Sunyaev, A. Price, B. Stranger, V. Simon, C. Lee. 

3311W Characterizing selection signatures associated 

with high-altitude adaptation in Tibetans. A. Ferrer 

Admetlla, Y. Wang, B. Peter, N. Vinckenbosch, E. Sanchez- 

Huerta, X. Jin, A. Asan, J. Wang, J. Wang, R. Nielsen. 

3312T Detecting population structure and genetic 

differentiation from high-throughput re-sequencing 

data. M. Fumagalli, T. Korneliussen, T. Linderoth, F. Vieira, 

A. Albrechtsen, R. Nielsen. 

3313F Different haplotypes in East Asia and Europe 

both show positive selection in 1q24. C. Heffelfinger, A. 

J. Pakstis, W. C. Speed, M. P. Snyder, K. K. Kidd. 

3314W Early origins of Southeast Asian ovalocytosis 

during the Austronesian expansion. J. A. Wilder, A. M. 

Paquette, M. K. Thompson. 


POSTER SESSIONS


3315T Local genome diversity studies in Puerto Rico: 

Uncovering distribution of ancestry proportions 

and disease allele frequencies across the island. Y. 

M. Afanador, I. Rivera, E. P. Tascón-Peñaranda, J. L. 

Rodriguez-Florez, C. A. Winkler, A. V. Washington, E. 

Suárez, J. C. Martinez-Cruzado, T. K. Oleksyk, Local 

Genome Diversity Studies Consortium. 

3316F Indian genome architecture reveals high diversity 

and suggests ancient African ancestry. S. Kumar, R. 

Singh, N. Banerjee, H. Gowda, M. Kramer, S. Kamalakaran, 

V. Varadan, A. Janevski, B. Muthusamy, B. Chakrabarti, 

S. M. Srikanth, S. Keerthikumar, T. S. Keshava Prasad, S. 

Vivekandandan, V. Makkapati, A. Panigrahi, P. Kumar, P. 

van Hooft, E. Ghiban, L. Gelley, S. Muller, G. Atwal, W. R. 

McCombie, A. Pandey, A. Chakravarti, N. Dimitrova. 

3317W Genetic evidence of paleolithic colonization 

and neolithic expansion of modern humans on the 

Tibetan Plateau. B. Su, X. Qi, C. Cui, Y. Peng, X. Zhang, 

Z. Yang, H. Zhong, H. Zhang, K. Xiang, X. Cao, Y. Wang, 

O. Ouzhuluobu, B. Basang, C. Ciwangsangbu, B. Bianba, 

G. Gonggalanzi, T. Wu, H. Chen, H. Shi. 

3318T Genomic ancestry and structure of the African- 

European admixed population of the Cape Verde 

Islands. S. Beleza, N. A. Johnson, S. I. Candille, D. M. 

Absher, I. I. Araújo, A. Correia e. Silva, M. D. Shriver, J. 

Rocha, G. S. Barsh, H. Tang. 

3319F Mitochondrial DNA in Myanmar: Complete 

mitochondrial genome sequencing revealed several 

new lineages within macro-haplogroup M. J. 

Horst, M. Summerer, G. Erhart, D. Horst, B. Horst, S. 

Sanguansermsri, A. Manhart, F. Kronenberg, A. Kloss- 

Brandstätter. 

3320W Asian expansion of modern human out of 

Africa. H. Li. 

3321T Using Y-chromosome haplotypes to improve 

inferred ancestral origins in European populations. 

N. Myres, P. Underhill, R. King, J. Byrnes, K. Noto, S. 

Woodward, N. Angerhofer, C. Ball, K. Chahine. 

3322F Ethiopian genome project. L. Pagani, T. Kivisild, A. 

Tarekegn, R. Ekong, C. Plaster, I. Gallego Romero, T. Oljira, E. 

Mekonnen, Q. Ayub, S. Q. Mehdi, M. G. Thomas, D. Luiselli, 

E. Bekele, N. Bradman, D. J. Balding, C. Tyler-Smith. 

3323W Analysis of whole mitochondrial genomes from 

Iñupiat populations of the Alaskan North Slope. J. Raff, 

M. Rzhetskaya, J. Tackney, M. G. Hayes. 

3324T Genetic ancestrality estimative for Brasilia 

population using CODIS autosomal markers. A. E. 

Svidzinski, G. C. Dalton, R. C. Toledo, A. C. Arcanjo, S. F. 

Oliveira. 

3325F The population genetics of native Peruvian 

populations: Evolutionary inferences and biomedical 

implications. E. Tarazona-Santos, L. Pereira, M. Scliar, 

R. Zamudio, G. B. Soares-Souza, L. W. Zuccherato, M. 

Gouveia, F. Soares, F. Kehdy, W. C. S. Magalhaes, M. R. 

Rodrigues, E. Hollox, S. J. Chanock, R. H. Gilman. 

3326W Coalescent inference of evolutionary 

parameters using serially sampled genomic sequence 

data: Theory and applications in human population 

genetics. D. A. Vasco, M. Kato, Z. Ye, D. Lee, T. Carter, S. 

J. Hebbring, A. Rodrgio, S. Schrodi, S. Lin. 

3327T Ancestry perception bias in Latin American 

admixed populations. K. Adhikari, A. Ruiz-Linares, G. 

Bedoya, C. Bortolini, S. Canizales, C. Gallo, S. Gibbon, R. 

Gonzalez, F. Rothhammer, CANDELA Consortium. 

3328F OriginMiner : Show me your genes and I’ll tell 

you where you come from. M. de Tayrac, M. C. Babron, 

E. Génin. 

3329W Genetic ancestry and admixture analysis in 

a Bermudian population reveals evidence of Native 

American origins consistent with oral histories and 

genealogies. J. B. Gaieski, E. Elhaik, A. C. Owings, M. G. 

Vilar, A. T. Walia, D. F. Gaieski, R. S. Wells, T. G. Schurr, 

The Genographic Consortium. 

3330T The MHC and HLA alleleic diversity of the 

1000 Genome samples. P. Gourraud, N. Cereb, P. 

KhanKhanian, M. Maiers, S. Yang, R. Dunivin, M. Feolo, J. 

Rioux, S. Hauser, J. Oksenberg. 

3331F Identification of sickle cell disease alleles in 

the Eastern Caribbean population. C. Logronio, M. 

Graham, K. Wiitala, P. Gibbons, E. Bashover, C. Headland, 

I. McIntosh. 

3332W Khoesan genomic signatures in contemporary 

populations from Southern Africa. D. C. Petersen, 

O. Libiger, R. Hardie, L. I. Hannick, R. Wilkinson, R. H. 

Glashoff, M. Mukerji, P. Fernandez, N. J. Schork, V. M. 

Hayes, Indian Genome Variation Consortium. 

3333T Complete mitochondrial DNA genome 

sequences from the first New Zealanders: Ancient DNA 

and the settlement of East Polynesia. E. A. Matisoo- 

Smith, M. Knapp, S. Prost, K. A. Horsburgh, J. Stanton, 

H. Buckley. 

3334F A panel of ancestry informative markers 

for estimating and correcting potential effects of 

population stratification in Han Chinese. P. Qin, W. Jin, 

D. Lu, H. Lou, J. Wang, H. Xu, L. Jin, S. Xu. 

3335W Genomic demographics of the genetically 

isolated Amish populations of Ohio and Indiana. L. N. 

D’Aoust, A. C. Cummings, L. Jiang, R. Laux, D. Fuzzell, L. 

Caywood, L. Reinhart-Mercer, M. Courtenay, W. K. Scott, 

M. A. Pericak-Vance, J. L. Haines. 

3336T Jethro’s descendants: A journey of 1000 years. 

E. Friedman, J. Zidan, D. Ben Avraham, T. Maray, G. 

Atzmon. 

3337F Overview of the genetic variations in the Y 

chromosome in the Japanese population. Y. Sato, T. 

Shinka, A. Yamauchi, Y. Nakahori. 


3338W Genome-wide SNP variation in sub-Saharan 

Africa is influenced by cultural and ethno-linguistic 

affiliation. S. Soi, L. Scheinfeldt, C. Lambert, J. Hirbo, A. 

Ranciaro, S. Thompson, J.-M. Bodo, M. Ibrahim, G. 

Lema, T. Nyambo, S. Omar, C. Wambebe, D. Meskel, G. 

Belay, A. Froment, S. A. Tishkoff. 

3339T Positive natural selection and recent 

evolutionary history in Malays. X. Liu, R. T. H. Ong, L. P. 

Wong, W. T. Poh, N. E. Pillai, C. C. Khor, Y. Y. Teo. 

3340F Genetic evidence of multiple non-Asian 

migrations into the New World. N. Angerhofer, S. 

Woodward, N. Myres, T. Steele, A. Nelson, U. A. Perego, 

K. Chahine. 

3341W The CARTaGENE Genomics Project : Population 

genetics analysis of the founding population of 

Quebec. P. Awadalla, J. Hussin, Y. Idaghdour, A. 

Hodgkinson, J.-P. Goulet, J.-C. Grenier, T. de Malliard, V. 

Bruat, E. Gbeha, M. Capredon, E. Hip-Ki, Y. Payette, C. 

Boileau. 



and Aging: Characterizing ancestry of the GERA 

cohort using genome-wide data. Y. Banda, M. Kvale, 

T. Hoffmann, S. Hesselson, H. Tang, C. Sabatti, D. 

Ranatunga, C. Schaefer, P. Kwok, N. Risch. 

3343F Population diversity and history of the Indian 

subcontinent: Uncovering the deeper mosaic of substructuring 

and the intricate network of dispersals. A. 

Basu, N. Sarkar Roy, P. P. Majumder. 

3344W Mitochondrial origins of the Cape Coloureds of 

South Africa. K. G. Beaty, D. L. Phillips, M. Henneberg, M. 

H. Crawford. 

3345T North African Jewish and non-Jewish 

populations form distinctive, orthogonal clusters. C. 

Campbell, P. F. Palamara, M. Dubrovsky, L. R. Botigué, M. 

Fellous, G. Atzmon, C. Oddoux, A. Pearlman, L. Hao, B. 

Henn, E. Burns, C. Bustamante, D. Comas, E. Friedman, I. 

Pe’er, H. Ostrer. 

3346F Hyper-sharing individuals in founder 

populations: Theory and implications to imputation 

strategies. S. Carmi, P. Palamara, V. Vacic, T. Lencz, A. 

Darvasi, I. Pe’er. 

3347W Analytical inference of human demographic 

history using multiple individual genome sequences. H. 

Chen, D. Reich. 

3348T Predicting the geographic origin of individuals 

using genome-wide SNP data. D. J. M. Crouch, M. E. 

Weale. 

3349F Y chromosome J haplogroups trace post glacial 

period expansion from Turkey and Caucasus into the 

Middle East. B. Douaihy, D. Platt, M. Haber, A. Salloum, F. 

Mouzaya, M. Bou Dagher-Kharrat, G. Khazen, E. Matisoo- 

Smith, R. S. Wells, C. T. Smith, P. Zalloua, Genographic 

Consortium. 


3350W Genotyping at the DAT1 locus: Determination 

of VNTR allele frequencies in descendents of the 

founding families of Southwest Louisiana. J. Drost, A. 

Figueroa, J. Angle. 

3351T A two-sex model for the admixture history 

of a hybrid population. A. Goldberg, P. Verdu, N. A. 

Rosenberg. 

3352F Admixed human genomes reveal complex 

migration patterns from the early spread of modern 

humans to the 21st century. S. Gravel, J. M. Kidd, J. K. 

Byrnes, A. Moreno-Estrada, F. Zakharia, S. Musharoff, F. 

M. De La Vega, C. D. Bustamante. 

3353W Quantitative characterization of the ancestry of 

the Estonian population. T. Haller, L. Leitsalu-Moynihan, 

P. C. Ng, K. Fischer, T. Esko, K. Läll, A. Metspalu. 

3354T Demographic inference and whole genome scan 

for natural selection in Biaka pygmies from Central 

Africa. P. H. Hsieh, K. R. Veeramah, J. D. Wall, R. N. 

Gutenkunst, M. F. Hammer. 

3355F Analysis of contributions of archaic genome and 

their functions in modern non-Africans. Y. Hu, Q. Ding, 

Y. Wang, H. Zheng, L. Jin. 

3356W Anisotropic isolation by distance: The main 

orientations of human genetic differentiation. F. Jay, P. 

Sjödin, M. Jakobsson, M. G. B. Blum. 

3357T On the use of deterministic functions for 

deriving approximate coalescent distributions. E. 

Jewett, N. Rosenberg. 

3358F Exploring population admixture dynamics using 

empirical and simulated genome-wide distribution of 

ancestral chromosomal segments. W. Jin, S. Wang, L. 

Jin, S. Xu. 

3359W Population history and Y-chromsome diversity 

of the Poqomchi’ Maya of Eastern Guatemala. S. 

Johnson, A. Justice, M. Crawford. 

3360T Local ancestry inference in the Thousand 

Genomes Project admixed populations. E. E. Kenny, 

B. Maples, C. Churchhouse, A. Gupta Hinch, A. Williams, 

Y. Baran, S. Gravel, A. Moreno Estrada, C. Gignoux, F. 

Zakharia, A. W. Bigham, M. D. Shriver, A. Ruiz-Linares, G. 

Bedoya, T. K. Oleksyk, J. Dutil, J. C. Martinez-Cruzado, E. 

Gonzalez Burchard, S. Myers, E. Halperin, J. Marchini, C. 

D. Bustamante, 1000 Genomes Consortium. 

3361F A likelihood ratio test for sex-bias and its 

application to whole-genome sequencing data of a 

set of globally-distributed populations. S. Musharoff, J. 

M. Kidd, B. M. Henn, S. Gravel, B. Maples, K. Eilertson, 

M. C. Yee, H. M. Cann, G. Euskirchen, M. Snyder, C. D. 

Bustamante, S. Ramachandran. 

3362W Population structure and genetic diversity in 

Argentinean populations. M. Muzzio, J. M. B. Motti, E. 

Kenny, L. S. Jurado-Medina, M. C. Yee, J. Beltramo, R. 

Santos, T. Cooke, V. Ramallo, M. Schawb, O. Cornejo, G. 

Bailliet, C. M. Bravi, C. D. Bustamante. 


POSTER SESSIONS


3363T Rediscovering the people who greeted 

Columbus through mtDNA sequence analysis. M. A. 

Nieves-Colon, E. P. Tascón-Peñaranda, M. Diaz-Matallana, 

I. Carrero-Gonzalez, F. Curbelo-Canabal, J. Galanther, 

M. L. Perez-Quiñones, H. J. Diaz-Zabala, C. Eng, O. R. 

Wever, F. Mercedes de la Cruz, A. Alvarez-Serrano, E. G. 

Burchard, J. C. Martínez-Cruzado. 

3364F Continent-wide decoupling of Y-chromosomal 

genetic variation from language and geography in 

native South Americans. M. Nothnagel, L. Roewer, L. 

Gusmao, V. Gomes, M. Gonzalez, D. Corach, A. Sala, E. 

Alechine, T. Palha, N. Santos, A. Ribeiro-dos-Santos, M. 

Geppert, S. Willuweit, M. Nagy, S. Zweynert, M. Baeta, 

C. Nunez, B. Martinez-Jarreta, F. Gonzalez-Andrade, E. 

Fagundes de Carvalho, D. Aparecida da Silva, J. J. Builes, 

D. Turbon, A. M. Lopez Parra, E. Eduardo Arroyo-Pardo, U. 

Toscanini, L. Borjas, C. Barletta, S. Santos, M. Krawczak. 

3365W Using haplotypes to infer ancestral origins for 

recently admixed individuals. K. Noto, J. K. Byrnes, 

N. Myres, N. Angerhofer, S. R. Woodward, C. A. Ball, K. 

Chahine. 

3366T Haplotype sharing distributions for fine-scale 

demographic reconstruction. P. Palamara, T. Lencz, A. 

Darvasi, I. Pe’er. 

3367F Inference of population splits and mixtures from 

genome-wide allele frequency data. J. K. Pickrell, J. K. 

Pritchard. 

3368W Inferring Y chromosome phylogeny by 

sequencing diverse populations. G. D. Poznik, P. A. 

Underhill, B. M. Henn, M. C. Yee, E. Sliwerska, G. M. 

Euskirchen, L. Quintana-Murci, E. Patin, M. Snyder, J. M. 

Kidd, C. D. Bustamante. 

3369T Towards understanding the population 

substructure and ancestry in Kuwaiti population. R. 

Rajagopalan, O. Alsmadi, F. Alkayal, G. Thareja, S. John, P. 

Hebbar, A. Thangavel. 

3370F The evolutionary history of mutations associated 

with leukemia. S. Ramachandran, M. Kantesaria, A. 

Walia, J. Yang. 

3371W Identification of regions under selection in the 

Gullah African American population. P. S. Ramos, S. 

Sajuthi, Y. Huang, J. Divers, K. M. Kaufman, J. B. Harley, 

R. P. Kimberly, D. L. Kamen, C. D. Langefeld, M. M. Sale, 

W. T. Garvey, G. S. Gilkeson. 

3372T A genome-wide map of Neandertal ancestry 

in modern humans. S. Sankararaman, N. Patterson, S. 

Mallick, S. Pääbo, D. Reich. 

3373F Genetic diversity and migration history of 

indigenous populations from the Central Valley of 

Mexico. T. Schurr, M. Vilar, R. Gomez, H. Zillges, A. Sanders, 

A. Owings, J. Gaieski, The Genographic Consortium. 

3374W Unexpected relationships and inbreeding in 

HapMap phase III populations. E. Stevens, J. Baugher, 

M. Shirley, L. Frelin, J. Pevsner. 

3375T Class I MHC region genetic markers have 

different dinamics than neutral genomic regions in 

Brazilian populations. R. C. P. Toledo, A. C. Arcanjo, C. 

T. Mendes-Júnior, E. C. Castelli, J. A. Peña, R. V. Andrade, 

M. N. Klautau-Guimarães, S. F. Oliveira. 

3376F Coalescence-based estimation of population 

history in the presence of admixture from genetic 

variation data. M. Tsai, G. Blelloch, R. Ravi, R. Schwartz. 

3377W The GenoChip: A new tool for genetic 

anthropology. S. Wells, E. Greenspan, S. Staats, T. Krahn, 

C. Tyler-Smith, Y. Xue, S. Tofanelli, P. Francalacci, F. 

Cucca, L. Pagani, L. Jin, H. Li, T. G. Schurr, J. B. Gaieski, 

C. Melendez, M. G. Vilar, A. C. Owings, R. Gomez, R. 

Fujita, F. Santos, D. Comas, O. Balanovsky, E. Balanovska, 

P. Zalloua, H. Soodyall, R. Pitchappan, G. Arun Kumar, M. 

F. Hammer, B. Greenspan, E. Elhaik. 

3378T Genetic, genomic and penotypic 

characterization of Qinghai Mongolians. J. Xing, U. 

Tanna, T. S. Simonson, W. S. Watkins, D. J. Witherspoon, 

W. Wu, G. Qing, C. D. Huff, L. B. Jorde, R. L. Ge. 

3379F Paleolithic human migrations in East Eurasia by 

sequencing Y chromosomes. S. Yan, C. C. Wang, L. Jin. 

3380W Reconstructing the history of Indigenous 

American populations from the Thousand Genomes 

Project admixed populations of the Americas. F. 

Zakharia, M. Muzzio, K. Sandoval, A. Moreno-Estrada, S. 

Gravel, J. Byrnes, C. R. Guignoux, J. L. Rodriguez-Flores, 

B. Maples, W. Guiblet, J. Dutil, E. E. Kenny, A. W. Bigham, 

M. D. Shriver, 1000 Genomes Consortium, A. Ruiz-Linares, 

T. K. Oleksyk, J. C. Martinez-Cruzado, E. Gonzalez 

Burchard, C. D. Bustamante. 

3381T The genetic aspect of the Slavic settlement 

in the East Alps region. A. Zupan, K. Vrabec, T. Dovč ; 

drnovšek, D. Glavač . 

3382F Principal component analysis produces an 

inaccurate representation of population structure 

under certain conditions. J. Bentham, D. L. Morris, D. S. 

Cunninghame Graham, C. L. Pinder, V. Anand, J. E. Wither, 

J. D. Rioux, M. E. Alarcón-Riquelme, T. J. Vyse. 

3383W The Kaiser Permanente/UCSF Genetic 


Aging: Local ancestry estimations in the admixed 

individuals of the Genetic Epidemiology Research on 

Aging cohort. S. I. Candille, N. A. Johnson, Y. Banda, T. 

Hoffman, M. Kvale, C. Sabatti, S. Hesselson, P. Y. Kwok, 

C. Schaefer, N. Risch, H. Tang. 

3384T Multi-way admixture deconvolution using 

phased or unphased ancestral panels. C. Churchhouse, 

J. Marchini. 

3385F A panel of ancestry informative markers for the 

South African Coloured population. M. Daya, L. Van der 

Merwe, M. Möller, E. Hoal, C. R. Gignoux, J. M. Galanter, 

B. M. Henn. 


3386W A scalable pipeline for local ancestry inference 

using thousands of reference individuals. C. B. Do, E. 

Durand, J. M. Macpherson, B. Naughton, J. L. Mountain. 

3387T Global genome-wide variations comparisons 

show a generally homogeneous Levant that has been 

recently structured by culture. M. Haber, D. Comas, P. 

A. Zalloua. 

3388F Human and Helicobacter pylori ancestries 

in Colombian populations with contrasting risks of 

gastric cancer. N. Kodaman, A. Pazos, M. B. Piazuelo, B. 

G. Schneider, C. L. Shaffer, J. Romero-Gallo, T. de Sablet, 

L. E. Bravo, K. Wilson, T. Cover, P. Correa, S. Williams. 

3389W Deep ancestry within a Neandertal-like region 

on human chromosome 12. F. L. Mendez, J. C. Watkins, 

M. F. Hammer. 

3390T Sub-continental ancestry of admixed Caribbean 

populations and implications for medical genomics 

in the Americas. A. Moreno Estrada, S. Gravel, M. L. 

Cuccaro, F. Zakharia, P. Ortiz-Tello, R. J. Martinez, J. L. 

McCauley, E. E. Kenny, D. J. Hedges, R. W. Morris, J. K. 

Byrnes, S. Acevedo, P. J. Norman, Z. Layrisse, P. Parham, 

C. D. Bustamante, E. R. Martin. 

3391W Population structure and ancestry inference 

under sample selection bias. S. S. Shringarpure, E. P. Xing. 

3392T Genome-wide effects of sex-specific 

incompatibility on neutral introgression. M. Uyenoyama. 

3393W Admixture analysis of spontaneous hepatitis 

C virus clearance among individuals of African 

descent. G. L. Wojcik, P. Duggal on behalf of International 

Consortium of HCV Spontaneous Resolution. 

3394T A genome-wide perspective of population 

structure and individual admixture in Xinjiang: 

Implications for demographic history and complex trait 

gene mapping. S. Xu, S. Li, D. Lu, P. Qin, H. Lou, W. Jin, 

X. Pan, L. Jin. 

3395W Genomics variants in the endogamous Mashadi 

Jewish population identified by pooled whole exome 

sequencing. H. Ostrer, W. J. Huh, G. Akler, L. U., M. 

Popovic, D. Kural, J. Sheffield, E. Burns, G. Atzmon, C. 

Oddoux. 

3396T An evaluation of genetic characteristics of two 

population isolates from Greece: The HELIC-Pomak 

and MANOLIS studies. G. Dedoussis, I. Tachmazidou, 

A. E. Farmaki, L. Southam, K. Palin, A. Kolb-Kokocinski, 

W. Rayner, E. Daoutidou, I. Ntalla, K. Panoutsopoulou, E. 

Tsafantakis, M. Karaleftheri, E. Zeggini. 

3397W Genomic variants in the Dominican population 

identified by whole exome genotyping using Affymetrix 

Axiom Arrays. C. Oddoux, C. Cambell, L. U., H. Ostrer. 

3398T A population-based study and subsequent 

disclosure of autosomal recessive disease-causing 

mutations in a founder population. J. X. Chong, R. L. 

Anderson, R. Ouwenga, D. J. Waggoner, C. Ober. 


3399W Deep-coverage whole genome sequencing of 

100 Qatari reveals elevated prevalence of populationspecific 

variants linked to disease. J. L. Rodriguez- 

Flores, K. A. Fakhro, N. R. Hackett, J. Salit, J. Fuller, J. A. 

Malek, R. Badii, A. Al-Marri, L. Chouchane, R. G. Crystal, 

J. G. Mezey. 

3400T Single gene disorders in Western India: Cohort 

of high risk group. C. Ankleshwaria, J. Sheth, H. Patel, J. 

Lekshami, F. Sheth. 

3401W Study on the distribution of rare genetic 

variations in the French Canadian population. S. Girard, 

L.-P. Lemieux Perreault, I. Mongrain, G. Lettre, J. Rioux, 

M. Phillips, S. de Denus, G. A. Rouleau, J.-C. Tardif, M.-P. 

Dube. 

3402T Identification of a novel Native American Y 

chromosome founding lineage in northwest South 

America. L. Roewer, M. Nothnagel, L. Gusmão, V. Gomes, 

M. Gonzaléz, D. Corach, A. Sala, E. Alechine, T. Palha, N. 

Santos, A. Ribeiro-dos-Santos, M. Geppert, S. Willuweit, 

M. Nagy, S. Zweynert, M. Baeta, C. Núñez, B. Martínez- 

Jarreta, F. González-Andrade, E. Fagundes de Carvalho, 

D. Aparecida da Silva, J. J. Builes, D. Turbón, A. M. Lopez 

Parra, E. Arroyo-Pardo, U. Toscanini, L. Borjas, C. Barletta, 

S. Santos, M. Krawczak. 

3403W Single nucleotide variation analysis of protein 

domain signatures of human genes. J. Freudenberg. 

3404T Investigating the evolution of deleterious 

mutations in the major histocompatibility complex 

as a potential explanation for frequently observed 

HLA-disease associations. T. L. Lenz, D. M. Jordan, S. 

R. Sunyaev. 

3405W Quantifying the degree of purifying selection 

in genes associated with nephrotic syndrome. M. G. 

Sampson, M. Kretzler, H. M. Kang. 

3406T An assessment of population stratification 

in rare variant association tests using an analytic 

model of joint site frequency spectra. M. Reppell, M. 

Zawistowski, D. Wegmann, R. Weyant, P. L. St. Jean, M. 

G. Ehm, M. R. Nelson, J. Novembre, S. Zöllner. 

3407W Estimating and interpreting F ST : The impact of 

rare variants. G. Bhatia, N. Patterson, S. Sankararaman, 

A. L. Price. 

3408T Are rare and common variant stratification 

patterns the same? E. Génin, M.-C. Babron, M. de 

Tayrac, D. N. Rutledge, E. Zeggini. 

3409W Variant frequency and the scale of population 

structure. P. Raska, O. De la Cruz Cabrera. 

3410T Male-specific common CNVs and complex 

gender differences in CNV detected among 808 

olfactory receptor loci, in 150 phenotypically normal 

individuals from the 1000 Genome Project. F. 

Shadravan. 


POSTER SESSIONS


3411W Transcriptome sequencing across seven 

diverse populations characterizing novel transcript 

isoforms and allele-specific expression. H. A. Costa, A. 

R. Martin, J. M. Kidd, B. M. Henn, M. C. Yee, F. Grubert, 

S. B. Montgomery, H. M. Cann, M. P. Snyder, C. D. 

Bustamante. 

3412T African genome variation project. I. Tachmazidou, 

F. Ayele, C. Pomilla, J. Asimit, D. Gurdasani, R. Nsubuga, 

D. Shriner on behalf of APCDR Investigators. 

3413W Inference of genetic ancestry using genotype 

data from a single individual. C. Chen, S. Lee, S. Pollack, 

D. Hunter, P. Kraft, J. Hirschhorn, A. Price. 

3414W A unified model of meiosis combining 

recombination, non-disjunction, interference and 

infertility. H. R. Johnston IV, D. J. Cutler. 

Epigenetics 

3415T Landscape of DNA methylation in meningiomas. 

F. Gao, L. Shi, J. Russin, L. Zeng, X. Chang, T. Chen, S. 

Giannotta, D. Weisenberger, G. Zada, W. Mack, K. Wang. 

3416T A panel of epigenetic biomarkers of NSCLC 

identified from a comprehensive microarray-based 

DNA methylation analysis. S. C. Guo, X. T. Wang, J. B. 

Xu, F. L. Jin, J. C. Wang. 

3417T Methylome correlation structure in human aging 

brain. G. P. Srivastava, M. L. Eaton, B. T. Keenan, L. B. 

Chibnik, J. A. Schneider, M. Kellis, D. A. Bennett, P. L. De 

Jager. 

3418T Quantifying and normalizing methylation levels 

in illumina arrays. H. Xu, D. Ryu, S. Su, X. Wang, R. 

Podolsky, V. George. 

3419T Bone health at age 49-51 years is associated 

with IGF2 DNA methylation levels in the Newcastle 

Thousand Families Study cohort. C. Potter, J. C. 

McConnell, L. Barrett, R. M. Francis, M. S. Pearce, C. L. 

Relton. 

3420T NSD1 mutations in Sotos syndrome alter 

the DNA methylation landscape of genes involved 

in somatic growth and neuronal transmission. R. 

Weksberg, H. Jin, Y. Chen, D. Grafodatskaya, M. Inbar- 

Feigenberg, B. H. Y. Chung, C. Cytrynbaum, S. Choufani. 

3421T Aberrant expression of DNA methylation, 

cellular proliferation and DNA repair genes in 

gastric carcinogenesis? D. Q. Calcagno, F. Wisnieski, 

T. B. Brilhante, C. O. Gigek, E. S. Chen, M. F. Leal, S. 

Demachki, P. P. Assumpção, R. Artigiani, L. G. Lorenco, R. 

R. Burbano, M. A. C. Smith. 

3422T Novel microRNAs and epigenetic biomarkers for 

gastrointestinal stromal tumors. D. Glavač , M. Ravnik- 

Glavač . 

3423T The epigenetic alteration of PPP1R3C in the 

colorectal cancer. S. K. Lee, J. W. Moon, J. Kim, H. S. 

Kim, S. H. Park. 

3424T EGCG applications on HT-29 and MCF-7 

cell lines and evaluation of tumor suppressor gene 

methylation. O. Ozer, Y. K. Terzi, O. Darcansoy Iseri, Z. 

Yilmaz Celik, F. I. Sahin. 

3425T Methylation, mutational and expression analysis 

of IL6, IL8 and IL1B on the different tumor tissues. 

M. Poulin, A. Meyer, G. Gonzalez, J. Xu, L. Yan. 3426T 

Methylation profiling of tumor suppressor genes in invasive 

ductal breast carcinoma. Y. K. Terzi, F. I. Sahin, O. Ozer, Z. 

Yilmaz Celik, B. Demirhan, M. C. Yagmurdur. 

3427T Whole genome bisulfite sequencing of acute 

lymphoblastic leukemia cells. P. Wahlberg, J. Nordlund, 

O. Karlberg, C. Bäcklin, U. Liljedahl, E. Forestier, M. 

Gustafsson, G. Lönnerholm, A.-C. Syvänen. 

3428T Integrative genomic and epigenomic profiling 

of bladder cancer. A. Woloszynska-Read, D. Wang, L. 

Yan, Q. Hu, J. Wang, W. Bshara, J. Conroy, K. Guru, C. 

Morrison, S. Liu, D. L. Trump, C. S. Johnson. 

3429T Differential and sex-specific DNA methylation 

of the placental LEP promoter in early onset 

preeclampsia. K. Hogg, J. D. Blair, M. S. Peñaherrera, K. 

Louie, P. von Dadelszen, W. P. Robinson. 

3430T A genome-wide DNA methylation association 

study of young-onset hypertension in Han Chinese 

population of Taiwan. K. M. Chiang, H. C. Yang, J. W. 

Chen, W. H. Pan. 

3431T Genome-wide DNA methylation profiling 

of monozygotic twins discordant for trisomy 21. 

A. Letourneau, M. R. Sailani, F. Santoni, D. Robyr, P. 

Makrythanasis, A. Sharp, S. E. Antonarakis. 

3432T Genome-wide quantitative DNA methylation 

analysis of imprinted DMRs in patients with Beckwith- 

Wiedemann syndrome by MALDI-TOF MS technology. 

T. Maeda, K. Jozaki, H. YAtsuki, K. Higashimoto, H. 

Soezima. 

3433T Epigenomic features and transcription factor 

binding sites associate with hotspots of genomic 

instability in human germline and in cancer. C. Coarfa, 

C. S. Pichot, A. R. Jackson, A. Tandon, S. Raghuraman, S. 

Paithankar, A. V. Lee, S. E. McGuire, A. Milosavljevic. 

3434T DNA methylation influences lipid and adipokine 

profiles. M. A. Carless, H. Kulkarni, D. L. Rainwater, A. G. 

Comuzzie, M. C. Mahaney, J. Blangero. 

3435T Identification of epigenetic markers underlying 

increased risk of type 2 diabetes in South Asians: The 

EpiMigrant Pilot Study. A. Drong, C. Blancher, M. R. 

Jarvelin, C. M. Lindgren, P. Elliott, M. I. McCarthy, J. S. 

Kooner, J. C. Chambers. 

3436T Epigenome-wide association analysis identified 

aging alteration of DNA methylation level in the 


genes related to metabolic pathways. H. Kitajima, K. 

Yamamoto. 

3437T Alterations in methylation status of immune 

response genes promoters in cell-free DNA during 

a hemodialysis procedure in patients with diabetic 

nephropathy and in non-diabetic subjects. M. 

Korabecna, E. Pazourkova, A. Horinek, M. Mokrejsova, V. 

Tesar. 

3438T Genome-wide DNA methylation study of obesity 

and type 2 diabetes. D. Zhou, D. Zhang, Z. Zhang. 

3439T Density of inter-individual epigenome variation 

uncovered by integrative epigenome mapping at single 

base resolution. J. J. Lambourne, S. Busche, V. Adoue, T. 

Kwan, M. Caron, G. Bourque, M. Lathrop, T. Pastinen. 

3440T Allelic-dropout during PCR in the promoter of 

an imprinted gene potentially caused by interaction 

between G-quadruplex structures and DNA 

methylation. M. A. Kennedy, A. J. Stevens, S. Stuffrein- 

Roberts, A. Gibb, K. Doudney, A. Bagshaw, A. Aitchison, 

M. R. Eccles, V. V. Filichev, P. R. Joyce. 

3441T Genetics of global DNA methylation patterns 

in adipose tissue from twins and its effect on gene 

expression and disease: The MuTHER Study. E. 

Grundberg, E. Meduri, J. K. Sandling, A. K. Hedman, S. 

Keildson, J. Nisbet, M. Sekowska, A. Wilk, A. Barett, K. 

S. Small, J. T. Bell, E. T. Dermitzakis, M. I. McCarthy, T. D. 

Spector, P. Deloukas. 

3442T A methylome-wide MBD-seq study followed by 

replication in a total of 3,000 schizophrenia casecontrol 

samples identifies new disease biomarkers. K. 

A. Aberg, J. L. McClay, S. Nerella, S. L. Clark, G. Kumar, 

W. Chen, A. N. Khachane, G. Gao, L. Y. Xie, A. Hudson, J. 

Bukszar, C. M. Hultman, P. F. Sullivan, P. K. E. Magnusson, 

E. J. C. G. van den Oord, Swedish Schizophrenia 

Consortium. 

3443T Genome-wide estimation of DNA methylation 

heritability in CD4 � T-cells from 80 families. D. Absher, L. 

Waite, H. Tiwari, D. Arnett. 

3444T Epigenetic second hit on gene body of PKD1 

leads to cystic kidney in ADPKD. J. Bae, Y. Woo, J. Lee, 

J. Park, Y. Kim. 

3445T Altered DNA methylation in preeclamptic 

placentas. J. D. Blair, R. K. C. Yuen, P. von Dadelszen, W. 

P. Robinson. 

3446T Highly abnormal methylation of the placental 

genome in the CBAXDBA model of pregnancy failure. 

S. Brown, E. Bonney, L. Brown. 

3447T DNA methylation profiles of paediatric obsessive 

compulsive disorder. D. T. Butcher, G. L. Hanna, D. R. 

Rosenberg, R. Weksberg, P. D. Arnold. 

3448T Complete or partial loss of methylation at 

the GNAS locus identified in patients referred for 


molecular diagnosis of pseudohypoparathyroidism 

type 1a. G. S. Charames, S. J. Steinberg, B. A. Karczeski, 

M. A. Levine, G. R. Cutting. 

3449T DNA methylation of ADCYAP1R1 is associated 

with childhood asthma in Puerto Ricans. W. Chen, N. 

Boutaoui, Y. Y. Han, J. Brehm, C. Schmitz, E. Acosta- 

Perez, M. Cloutier, D. Calvert, S. Thornton-Thompson, D. 

B. Wakefield, M. Alvarez, A. Colón-Semidey, G. Canino, J. 

C. Celedón. 

3450T The role of DNA methylation in cognitive decline 

and Alzheimer’s disease. L. B. Chibnik, B. T. Keenan, G. 

Srivastava, M. L. Eaton, A. Meissner, J. A. Schneider, M. 

Kellis, D. Bennett, P. L. De Jager. 

3451T Distinct DNA methylation signature in ovarian 

cancer histological subtypes. M. S. Cicek, D. C. 

Koestler, B. L. Fridley, S. M. Armasu, K. R. Kalli, M. C. 

Larson, R. A. Vierkant, B. J. Winterhoff, J. Chien, J. B. 

Fan, M. Bibikova, B. Klotzle, G. Konecny, V. Shridhar, J. M. 

Cunningham, E. L. Goode. 

3452T Identifying new biomarkers for alcohol use 

behaviors in a methylome-wide MBD-seq study. S. 

L. Clark, K. A. Aberg, S. Nerella, G. Kumar, J. L. McClay, 

W. Chen, L. Y. Xie, A. Hudson, G. Gao, J. Bukszar, C. M. 

Hultman, P. K. E. Magnusson, P. F. Sullivan, E. J. C. G. van 

den Oord, Swedish Schizophrenia Consortium. 

3453T Smoking reduces DNA methylation levels at 

multiple genomic loci. P. Deloukas, L. Tsaprouni, T.-P. 

Yang, J. Bell, K. J. Dick, S. Kanoni, C. Nelson, E. Meduri, F. 

Cambien, C. Hengstenberg, J. Erdmann, H. Schunkert, A. 

H. Goodall, W. H. Ouwehand, T. Spector, N. J. Samani. 

3454T DNA hypomethylation of INS-IGF2 and BACH2 

in affected individuals within discordant monozygotic 

twins supports a role for epigenetic influences in type 

1 diabetes susceptibility. E. Elboudwarej, H. Quach, P. 

Ramsay, J. Lane, E. Sinclair, L. Criswell, P. Fain, J. Jeffrey, 

G. Eisenbarth, L. Barcellos, J. Noble. 

3455T Migration and DNA methylation: A comparison 

of methylation patterns in type 2 diabetes 

susceptibility genes between Indians and Europeans. 

H. R. Elliott, G. K. Walia, A. Duggirala, A. Groom, S. U. 

Reddy, G. R. Chandak, V. Gupta, M. Laakso, J. M. Dekker, 

M. Walker, S. Ebrahim, G. Davey Smith, C. L. Relton, RISC 

Consortium. 

3456T DNA methylation alterations associated 

with autism spectrum disorders. D. Grafodatskaya, 

R. Rajendram, Y. Lou, D. T. Butcher, L. Senman, C. 

Windpassinger, W. Roberts, S. W. Scherer, R. Weksberg. 

3457T A population-based method for identification of 

differential methylation regions among samples. C. L. 

Hsiao, C. S. J. Fann, C. J. Chang. 

3458T Genetics and epigenetics of PON1 in Mexican- 

American children. K. Huen, K. Harley, P. Yousefi, A. 

Bradman, L. Barcellos, B. Eskenazi, N. Holland. 

3459T Comprehensive DNA methylation profiling 


POSTER SESSIONS


of 3.7 million CpGs with the SureSelect target 

enrichment system. K. Jeong, M. Corioni, F. Useche, A. 

Shafer, E. Haugen, B. Novak, S. Happe, D. Roberts, J. 

Stamatoyannopoulos, E. LeProust. 

3460T The development of a method for in-solution 

hybrid capture of bisulfite-converted DNA for targeted 

bisulfite sequencing of 175 ADME genes. M. Kals, M. 

Ivanov, M. Kacevska, A. Metspalu, M. Ingelman-Sundberg, 

L. Milani. 

3461T Association of fetal-derived hypermethylated 

RASSF1A concentrations in placenta-mediated 

pregnancy complications. S. Kim, M. Kim, S. Park, D. 

Lee, J. Lim, J. Han, H. Ahn, J. Chung, M. Ryu. 

3462T Epigenome-wide association study of 

rheumatoid arthritis. I. Koh, J. Kim, J. Yoon, B. Kim, I. 

Park, K. Kim, Y. Kim, R. Huh, B. Han, S. Bae, J. Bae, J. 

Lee. 

3463T DNA methylation analysis of iPS cells using 

whole-genome bisulphite sequencing. D. S. Lee, J. Y. 

Shin, Y. S. Ju, J. I. Kim, P. Tonge, M. Puri, A. Nagy, J. S. 

Seo. 

3464T Advanced genome-wide methylome profiling 

and analysis of leukemia reveals novel epigenetic 

dynamics. S. Li, A. Akalin, F. Garrett-Bakelman, A. 

Melnick, C. Mason. 

3465T Differential methylation of colorectal adenomas 

of the right side. J. Li, D. Koestler, J. Baron, A. Dietrich, 

G. Tsongalis, L. Butterly, M. Goodrich, C. Marsit, J. Moore, 

A. Andrew, A. Srivastava. 

3466T Methylation quantitative trait loci and epigenetic 

networks underlying asthma-related traits. L. Liang, 

S. A. G. Willis-Owen, K. C. C. Wong, A. Binia, G. Davies, 

J. M. Hopkin, I. Yang, T. Pastinen, D. A. Schwartz, G. 

Abecasis, G. M. Lathrop, M. F. Moffatt, W. O. C. M. 

Cookson. 

3467T Activation of silenced tumor suppressor genes 

in prostate cancer cells by a novel energy restrictionmimetic 

agent. H. Lin, Y. Kuo, Y. Weng, I. Lai, T. Huang, S. 

Lin, D. Niu, C. Chen. 

3468T Patterns of SNP-based genome-wide heritability 

of methylation in four brain regions. J. Listgarten, G. 

Quon, C. Lippert, D. Heckerman. 

3469T Statistical models to predict DNA methylation 

level across different tissues in human. B. Ma, E. 

Wilker, S. A. G. Willis-Owen, K. C. C. Wong, A. Baccarelli, 

J. Schwartz, W. O. C. M. Cookson, K. Khabbaz, M. A. 

Mittleman, M. F. Moffatt, L. Liang. 

3470T Comparative DNA methylation in TrkB gene 

across brain regions of suicide completers. G. 

Maussion, B. Labonté, C. Ernst, A. Diallo, J. Yang, N. 

Mechawar, G. Turecki. 

3471T Methylomic variation In Alzheimer’s disease. 

J. Mill, K. Lunnon, M. Volta, R. Smith, J. Powell, Y. Patel, 

N. Buckley, J. Cooper, C. Troakes, V. Haroutunian, S. 

Lovestone, L. Schalkwyk. 

3472T Cytosine modifications and cellular sensitivity to 

chemotherapeutics. E. L. Moen, X. Zhang, S. M. Delaney, 

L. A. Godley, M. E. Dolan, W. Zhang. 

3473T Aberrant promoter hypermethylation of MMP16 

gene in the colorectal cancer. J. Moon, S. Lee, J. Kim, 

G. You, J. Lee, J. Kim, H. Kim, S. Park. 

3474T Deep sequencing reveals allelic and 

parental inheritance patterns of genome-wide DNA 

methylation in large number of nuclear pedigrees with 

schizophrenia. R. A. Ophoff, N. Plongthongkum, T. Wang, 

Y. Zhang, K. R. Van Eijk, R. S. Kahn, M. P. M. Boks, S. 

Horvath, K. Zhang. 

3475T Methylation pattern of twin groups with Behcet’s 

syndrome. M. Ozkilic, B. Shamloo, G. Celikyapi Erdem, E. 

Seyahi, H. Yazici, E. Tahir Turanli. 

3476T Integrated analysis of genome-wide DNA 

methylation and gene expression in post-mortem 

schizophrenia brain samples. R. Pidsley, J. Viana, C. 

Troakes, S. Al-Sarraj, L. Schalkwyk, J. Mill. 

3477T Determination of methylation profile in 

patients with schizophrenia. B. Rukova, R. Staneva, S. 

Hadjidekova, D. Nikolova, V. Milanova, D. Toncheva. 

3478T Association of CpG island shore methylation in 

peripheral blood with disease state and SNP variants 

in the MLH1 region in colorectal cancer patients. A. 

Savio, M. Lemire, M. Mrkonjic, S. Gallinger, B. Zanke, T. 

Hudson, B. Bapat. 

3479T The DNA methylation landscape of human 

placenta. D. Schroeder, H. Yu, P. Lott, D. Hong, C. Walker, 

I. Korf, J. M. LaSalle. 

3480T Methylation quantitative trait loci are consistently 

detected across ancestry, age and tissue type. A. K. 

Smith, V. Kilaru, M. Kocak, L. M. Almli, K. B. Mercer, E. B. 

Binder, K. J. Ressler, F. A. Tylavsky, K. N. Conneely. 

3481T Whole-genome methylation analysis: New 

insights in BEN molecular ethiology. R. Staneva, B. 

Rukova, I. Dimova, S. Hadzhidekova, O. Boyanova, M. 

Polenakovic, V. Stefanovic, R. Cukuranovic, V. Djonov, A. 

Galabov, D. Toncheva. 

3482T Genome-wide differences in DNA methylation 

identified in children with Williams-Beuren syndrome. 

E. Strong, D. Butcher, C. B. Mervis, C. A. Morris, R. 

Weksberg, L. R. Osborne. 

3483T Genome-wide profiling of 5-formylcytosine in 

embryonic stem cells. K. E. Szulwach, C. X. Song, Q. 

Dai, Y. Fu, P. Liu, L. Li, Y. Li, G. L. Xu, C. He, P. Jin. 


3484T Extremely preterm infants are epigenetically 

different from term infants at birth and an epigenetic 

legacy of preterm birth may remain at 18 years of age. 

C. Theda, M. Cruickshank, A. Oshlack, P. Sheehan, R. 

Saffery, P. Davis, LW. Doyle, J. Craig. 

3485T Genome-wide detection and analysis of CpG 

dinucleotide methylation in cancer fatigue studies. D. 

Wang, H. Lee, W. Xiao, C. Hsiao, H. Kim, R. Dionne, L. 

Saligan. 

3486T Prediction of total serum IgE using genomewide 

methylation profile. X. Wang, S. A. G. Willis-Owen, 

K. C. C. Wong, A. Binia, G. Davies, J. M. Hopkin, G. M. 

Lathrop, M. F. Moffatt, W. O. C. M. Cookson, L. Liang. 

3487T Epigenomic profiling of autism spectrum 

disorder. C. C. Y. Wong, L. C. Schalkwyk, E. L. Meaburn, 

A. Ronald, T. S. Price, R. Plomin, D. H. Geschwind, J. Mill. 

3488T Microarray-based genome-wide analyses of 

DNA methylation in hematological malignancies. Y. 

Yang, H. Mei, L. Edelmann, A. J. Sharp, I. Peter, V. Najfeld, 

C. R. Geyer, J. F. DeCoteau, S. A. Scott. 

3489T Discovery of cross-reactive probes in the 

Illumina Infinium HumanMethylation450 microarray: 

A cautionary tale. Y. Chen, M. Lemire, S. Choufani, D. T. 

Butcher, D. Grafodatskaya, B. W. Zanke, R. Weksberg. 

3490T Epigenetic changes in response to common 

environmental compounds. V. Labrie, I. Rezaian, S. 

Konigorski, N. Miller, Y. Li, C. Austin, R. Tice, M. Xia, A. 

Ngom, L. Rueda, R. Kustra, A. Petronis. 

3491T Regulatory network of microRNA action: miR- 

199a in health and diseases. S. Gu, Y. K. Suen, W. Y. 

Chan. 

3492T Gold nanoparticles cause variation in the level of 

methylation in H3K4 and H3K9. A. Polverino, A. Iuliano, 

L. Cristino, R. Imperatore, A. Longo, G. Carotenuto, S. De 

Nicola, M. Piscopo, L. Fucci, E. Vitale. 

3493T Gene methylation and allelic expression imbalance 

of the CYP1A2 and CYP3A4 genes in human livers. J. Shi, 

W. Shou, Z. Niu, Y. Wang, K. Zhang, W. Huang. 

3494T 6q24 Transient neonatal diabetes mellitus: 16 

years of data collection. I. K. Temple, S. Kabwama, 

L. Doherty, S. Ennis, E. Cook, L. Harrison, S. Ellard, S. 

Flanagan, A. T. Hattersley, J. P. H. Shield, D. J. G. Mackay. 

3495T Genome-wide profiling of human uniparental 

tissues to search for novel imprinted genes. S. Wen, 

W. Wan, A. Balasa, S. Mahadevan, Z. Liu, I. B. Van den 

Veyver. 

3496T Next generation bisulfite analysis around 

a 2.2 kb ICR1 deletion in 11p15.5 reveals variable 

hypermethylation explaining reduced penetrance in 

BWS families. J. Beygo, V. Citro, D. Prawitt, M. Heitmann, 

K. Rademacher, B. Horsthemke, A. Riccio, K. Buiting. 


3497T A noncoding imprinted RNA, MESTIT1 is 

essential for the repression in cis of KLF14. S. Horike, 

M. Meguro-Horike. 

3498T MeCP2 is required for chromatin higher-order 

structure and dynamics at the imprinted 15q11-q13 

locus. M. Meguro-Horike, D. H. Yasui, W. Powell, J. M. 

LaSalle, S. Horike. 

3499T DNA methylation analysis of reciprocal genomewide 

UPDs to define imprinted differentially methylated 

regions in the human genome. K. Nakabayashi, A. M. 

Trujillo, C. Tayama, V. Romanelli, P. Lapunzina, M. Kagami, 

H. Soejima, H. Ogata, F. Court, D. Monk, K. Hata. 

3500T The imprinted C15orf2 gene in the Prader-Willi 

syndrome region encodes a nuclear pore complex 

associated protein. L. C. Neumann, Y. Markaki, E. 

Mladenov, D. Hoffmann, K. Buiting, B. Horsthemke. 

3501T The ‘language gene’ FOXP2 is not imprinted. 

A. C. Thomas, J. M. Frost, F. Khadem, P. Stanier, G. E. 

Moore. 

3502T Evaluation of gene expression profile of 

chromatin modification enzymes in ACP02 and ACP03 

gastric cell lines. J. C. Santos, R. R. Burbano, M. L. 

Ribeiro. 

3503T Expression patterns of histone acetylation 

modifier genes in gastric cancer. F. Wisnieski, D. Q. 

Calcagno, M. F. Leal, T. B. Pontes, C. O. Gigek, E. S. 

Chen, S. Demachki, L. G. Lourenço, P. P. Assumpção, R. 

Artigiani, R. R. Burbano, M. A. C. Smith. 

3504T The enzyme holocarboxylase synthetase 

mediates biotin-independent gene-silencing through 

the recruitment of histone deacetilases in the nucleus 

of human cells. I. Trujillo, T. Barrios-García, S. Reyes- 

Carmona, I. Meneses-Morales, A. Leon-Del-Rio. 

3505T Epigenetic variation among humans. M. 

Kasowski, F. Grubert, S. Kyriazopoulou-Panagiotopoulou, 

A. Kundaje, J. Li, D. Spacek, M. Snyder. 

3506T Expression of mouse Lin28 gene is 

epigenetically regulated by histone modification. A. 

Pang, A. Title, O. M. Rennert. 

3507T Transcriptional and epigenetic variation in 

human induced pluripotent stem cells. N. Kumasaka, F. 

Rouhani, L. Vallier, A. Bradley, D. Gaffney. 

3508T The ratio of IGF2/IGF2R in chorionic villus 

samples as a biomarker for birth weight. C. Demetriou, 

A. Thomas, M. Ishida, S. Abu-Amero, R. Aggarwal, D. 

Peebles, A. Syngelaki, K. Nicolaides, L. Regan, G. E. Moore. 

3509T Genome-wide studies of methylation in 

the mouse frontal cortex reveals novel imprinted 

differential methylated regions and non-CG 

methylation. C. Barr, W. Xie, Y. Feng, K. Wigg, E. 

Dempster, L. Gomez, J. Eubanks, B. Ren. 


POSTER SESSIONS


3510T An integrated analysis of DNA methylation, 

histone modifications and gene expression in 

monozygotic twins discordant for psoriasis identifies 

disease-associated genes. R. Lyle, K. Gervin, G. D. 

Gilfillan, M. Hammerø, H. S. Hjorthaug, A. O. Olsen, T. 

Hughes, J. R. Harris, D. E. Undlien. 

3511T Monozygotic male twins with loss of 

methylation at DMR2 but discordant for clinical 

features of Beckwith Wiedemann syndrome. J. Lazier, 

M. A. Thomas. 

3512T Acquired epigenetic and chromosomal 

instability alterations are present in adults who 

experienced childhood sexual abuse: A discordant 

monozygotic twin study. T. York, J. Brumelle, J. Juusola, 

K. Kendler, E. Eaves, A. Amstadter, S. Aggen, K. Jones, S. 

Latendresse, A. Ferreira-Gonzalez, C. Jackson-Cook. 

3513T Genome-wide DNA methylation and gene 

expression analyses of monozygotic twins discordant 

for intelligence levels. C. C. Yu, M. Furukawa, K. 

Kobayashi, C. Shikishima, P. C. Cha, J. Sese, H. 

Sugawara, K. Iwamoto, T. Kato, J. Ando, T. Toda. 

3514T Analysis of expressed SNPs identifies new 

genes escaping X-chromosome inactivation and 

variable extents of expression from the inactive X. A. 

Cotton, B. Ge, T. Pastinen, C. Brown. 

3515T Investigating the role of the WICH chromatin 

remodeling complex in maintaining facultative 

heterochromatin at the human inactive X chromosome 

through targeted deletion of the BAZ1B gene using 

zinc finger nuclease technology. A. E. Culver-Cochran, 

B. P. Chadwick. 

3516T DNA methylation profiling in X;autosome 

translocations supports a role for repeat elements in 

the spread of X chromosome inactivation. A. Sharp, N. 

Bala, M. Brahmachary, P. Garg, C. Borel. 

3517T Tools for epigenetic research. L. Apone, P. Liu, G. 

Lohman, E. Cantor, B. Langhorst, D. Munafo, C. Sumner, 

E. Yigit, L. Merrill, F. Stewart, T. Evans, E. Dimalanta, T. 

Davis. 

3518T Sex-influenced epigenetic effects in 

chromosomal rearrangements. J. Kapalanga, D. Wong, 

N. Nwebube, A. Gandy. 

3519T The relationship between paternal uniparental 

disomy and clinical features in patients with Beckwith- 

Wiedemann syndrome. O. Yasufumi, K. Jozaki, T. Maeda, 

H. Yatsuki, K. Higashimoto, H. Soejima. 

3520T Streamlined chromosome conformation capture 

workflow for the studies of human �-globin gene 

control by locus control region. C. Woo, C. Liu, S. Dong. 

3521T microRNAs in the sclera: Role in ocular growth 

regulation and implications for myopia. R. Metlapally, P. 

Gonzalez, F. A. Hawthorne, K. Tran-Viet, C. F. Wildsoet, T. 

L. Young. 

3522T DNA combing assay for detection of 

contraction-dependent facioscapulohumeral muscular 

dystrophy (FSHD1). F. Z. Boyar, P. Chan, V. Sulcova, D. 

Tsao, R. Owen, P. Walrafen, C. D. Braastad, M. Jocson, W. 

Sun, A. Anguiano, C. M. Strom. 

3523T RNA editing of the SDHB transcripts (C to U) in 

peripheral blood monocytes. R. T. Taggart, J. D. Tario, K. 

H. De Jong, P. K. Wallace, B. E. Baysal. 

3524T FTO levels affect RNA modification and the 

transcriptome. T. Berulava, M. Ziehe, L. Klein-Hitpass, E. 

Mladenov, J. Thomale, U. Rüther, B. Horsthemke. 

3525T Prioritizing candidate functional SNPs at GWAS 

loci using epigenomic datasets from ENCODE. K. S. Lo, 

C. D. Palmer, J. N. Hirschhorn, G. Lettre. 

Bioinformatics and Genomic 

Technology 

3526W Bioinformatic parallel processing tools 

development for mutation identification from whole 

exome data following homozygosity mapping 

for autosomal recessive disorders. Y. Al-Sarraj, A. 

Abouzehry, H. ElShanti, M. Kambouris. 

3527F Kailos Blue: A complete cloud-based 

bioinformatics solution for management and analysis 

of targeted sequencing across next-generation 

sequencing platforms. R. C. Bachmeyer, D. A. Kloske, B. 

Stone, K. E. Varley, D. T. Moore. 

3528W Streamlined, accurate low level detection of 

variants in deep, next-generation sequencing data 

from amplicons. C. Boysen, M. Matvienko, N. Thomson, 

B. Turner, J. Bendtsen, H. Sandmann, J. Jakobsen, P. 

Nielsen, A. Joecker, A. Joecker. 

3529F De novo assembly by positional sequencing. B. 

Bready, P. Goldstein, W. H. Heaton, P. Ianakiev, H.-Y. Li, J. 

S. Oliver, J. Thompson. 

3530W Translational research in newborn screening: 

development of informatics tools to support 

longitudinal research and accelerate transformations 

in clinical practice. A. Brower, B. Bowdish, M. Porter, J. 

Pennington, S. Wrazien, J. Loutrel, P. White, M. Watson. 

3531F Web-based tool for target sequence capture 

assay design. J. Cai, B. Morrow. 

3532W wANNOVAR: Annotating genetic variants for 

personal genomes via the Web. X. Chang, K. Wang. 

3533F Simultaneous analysis of common and rare 

variants in complex traits. G. Chen, A. Yuan, A. Bentley, 

D. Shriner, A. Adeyemo, C. Rotimi. 

3534W On combining reference data to improve 

imputation accuracy. J. Chen, J. G. Zhang, J. Li, Y. F. Pei, 

H. W. Deng. 


3535F Improved filtering and annotation of nextgeneration 

sequencing variants in clinical gene panels. 

H. K. Chong, S. Mexal, A. M. Elliott, H. M. Lu, H. Lu, X. Li. 

3536W Discovery of a cis-regulatory SNP at the 

PPARG diabetes risk locus. M. Claussnitzer, H. Grallert, 

S. N. Dankel, B. Klocke, H. Lee, S. Hauck, V. Glunk, C. 

Hoffmann, M. Seifert, G. Mellgren, T. Illig, H. Hauner, H. 

Laumen. 

3537F dbGENO: A web-based complex disease 

curation pipeline. D. Cook, J. Dagle, K. Ryckman, J. 

Murray. 

3538W EVA: Exome Variation Analyzer, a tool for 

filtering strategies in medical genomics. S. Coutant, 

C. Cabot, A. Lefebvre, M. Léonard, E. Prieur-Gaston, D. 

Campion, T. Lecroq, T. Frebourg, H. Dauchel. 

3539F Random design tool for additional MIDs for 

Roche sequencing platforms. S. H. Eck, B. Grumbt, I. 

Nieberle, C. Marschall, K. Hirv, H.-G. Klein. 

3540W A functional gene-based test for association 

in Tourette’s syndrome and obsessive-compulsive 

disorder. P. Evans, TSA Consortium for Genetics, The 

International OCD Foundation Genetics Collaborative. 

3541F Statistical considerations for decisions on 

applying globin RNA reduction in blood samples for 

gene expression experiments. S. Feng, J. Dungan, S. 

Gregory, C. Haynes, W. Kraus. 

3542W Biofilter 2.0 for advanced predictive model 

development, testing, and hypothesis generation 

using expert domain knowledge resources. A. Frase, 

J. Wallace, C. Moore, N. Katiyar, S. A. Pendergrass, M. D. 

Ritchie. 

3543F Iterated correction of a diploid parental 

reference sequence and its use during exome 

alignments for disease gene discovery. T. R. Gall, D. R. 

Adams, C. F. Boerkoel, K. Fuentes-Fajardo, W. A. Gahl, P. 

Cherukuri, M. Sincan, C. Toro, C. J. Tifft, T. C. Markello. 

3544W Kinship index variations among populations 

and thresholds for familial searching. J. Ge, B. Budowle. 

3545F Transparent, accessible, and robust functional 

analysis of SNPs. B. Giardine, R. Burhans, C. Riemer, A. 

Ratan, R. Harris, G. Von Kuster, R. C. Hardison, Y. Zhang, 

W. Miller, Galaxy Development Team. 

3546W ParseCNV integrative CNV association software 

with quality tracking. J. Glessner, H. Hakonarson. 

3547F Web-based interactive visual analysis of NGS 

data using Galaxy. J. Goecks, A. Nekrutenko, J. Taylor, 

Galaxy Team. 

3548W Computational and informational challenges 

in providing clinically-relevant genome interpretation 

from high-throughput sequencing data. R. K. Hart, 

Locus Development, Inc. 


3549F Capture-recapture models for evaluation of 

algorithms estimating functionality of missense 

mutations. S. Hicks, S. E. Plon, M. Kimmel. 

3550W The Unified Sample Identifier: A universal 

sample coding system to manage large numbers 

of biological samples. P. Hoffmann, J. E. Bolz, A. 

Reinscheidt, T. F. Wienker, S. Cichon, S. Herms. 

3551F Systematic evaluations of sequencing errors 

in next-generation sequencing data. Y. Hu, Y. Liu, J. 

Ferguson, I. Silverman, B. Gregory, M. Reilly, M. Li. 

3552W EGprofile: A tool for rapid profiling analysis of 

epigenetic marks with ChIP-seq data. W. Huang, L. Li. 

3553F SOAPfuse detects gene fusions from paired-end 

RNA-seq data with single base resolution. W. Jia, K. 

Qiu, M. He, P. Song, Q. Zhou, F. Zhou, X. Hu, Y. Li, G. Guo. 

3554W Personalized genomics: Personalized pathway 

mapping. P. Jia, Z. Zhao. 

3555F Correcting for expression heterogeneity while 

identifying regulatory hotspots. J. Joo, J. Sul, B. Han, 

E. Eskin. 

3556W GeneTalk: An expert exchange platform for 

assessing rare sequence variants. T. Kamphans, P. M. 

Krawitz. 

3557F UCSC Genome Browser 2012: Distributed data, 

enhanced interactivity, variant annotation integrator. W. 

J. Kent, A. Hinrichs, D. Karolchick, A. Zweig, B. Raney, H. 

Clawson, M. Cline, L. Guruvadoo, K. Learned, R. Kuhn, B. 

Rhead, T. Dreszer, L. Meyers, C. Li, M. Diekhans, G. Roe, 

P. Fujita, D. Haussler. 

3558W Curating genomic epidemiology data in the 

PAGE study. G. Kumaraguruparan, G. Mehta, A. Q. Nato, 

J. L. Ambite, S. Buyske, R. Mayani, C. Cai, J. S. Vockler, E. 

Deelman, T. C. Matise. 

3559F Predicting causal variants in exome sequencing 

of Mendelian disorders. J. Kwan, M. X. Li, P. C. Sham. 

3560W Analysis of Ewing sarcoma NGS transcriptome 

data highlights mechanisms of cancer progression. M. 

Laurance, J. Billaud, C. Bullitt. 

3561F Low concordance of variant calling algorithms 

in exome sequencing. G. Lyon, T. Jiang, G. Sun, W. 

Wang, J. Hu, P. Bodily, L. Tian, B. Moore, H. Hakonarson, 

J. Wang, M. Yandell, E. Johnson, Z. Wei, K. Wang. 

3562W DIVERGENOMEnrich: Expanding information on 

a genetic variation database through automatic online 

data retrieval. W. Magalhaes, G. Souza, G. Kingman, E. 

Tarazona, M. Rodrigues, Epigen-Brazil. 

3563F Fast and accurate local ancestry inference on 

whole genome-scale data using conditional random 

fields. B. Maples, F. Zakharia, S. Gravel, E. Kenny, C. 

Bustamante. 


POSTER SESSIONS


3564W Exome sequencing of Mayo Clinic Biobank 

samples for evaluation of quality and quantity of data. 

S. Middha, S. K. McDonnell, Z. C. Fogarty, M. S. DeRycke, 

K. J. Johnson, N. M. Lindor, D. J. Schaid, J. E. Olson, J. R. 

Cerhan, S. N. Thibodeau. 

3565F Genome-wide association study on the world 

fastest supercomputer, k computer. K. Misawa, A. 

Hasegawa, T. Tsunoda. 

3566W A bioinformatics approach for the identification 

of developmental QTL candidate genes. A. Q. Nato, B. 

Li, F. Chen, J. H. Millonig, T. C. Matise. 

3567F Multivariate profiling approach to inference on 

differential expression in RNA-seq data with small 

sample size. S. Oh, M. Kim, S. Song. 

3568W Challenges and approaches to computational 

candidate gene prioritization using gene networks. P. 

Pavlidis, E. Mercier, J. Gillis. 

3569F BlueSNP: An R package for high-scalability 

genome-wide association studies on compute 

clusters. R. J. Prill, H. Huang, S. Tata. 

3570W Fast and accurate identification of novel 

sequences in de novo human genome assemblies using 

NSIT. B. Pupacdi, A. Javed, M. J. Zaki, M. Ruchirawat. 

3571F NGS for the masses: Empowering biologists to 

improve bioinformatic productivity. K. Qaadri. 

3572W Evaluation and visualization of functional 

perturbations of pathways based on whole genome 

variations. H. Qin, Y. Y. Shugart. 

3573F Use of an ad hoc information system to support 

data search at a genomics center. H. Qiu, F. Mentch, E. 

Frackelton, C. Kim, L. Hermannsson, H. Hakonarson. 

3574W Using biosignatures to stratify clinical 

response: Evaluation of classification methods using 

simulated gene expression signatures and real patient 

cohorts. P. Ravindran, C. Ooi, L. Kai, H. Zhong, A. 

Belousov, H. Bitter. 

3575F Mitre: A tool for bulk updates of SNP identifiers. 

N. W. Rayner, N. Robertson, M. I. McCarthy. 

3576W Genomic analysis from sequencer to bedside: 

An integrated analysis pipeline for research and 

clinical sequencing. J. G. Reid, M. N. Bainbridge, F. 

Yu, M. Dahdouli, D. Challis, P. Pham, D. P. Sexton, E. 

Boerwinkle, R. A. Gibbs. 

3577F Human genome pattern mining framework for 

complex diseases. M. Riemenschneider, M. Stoll. 

3578W A tool for selecting endogenous control for 

qRT-PCR using high throughput expression data. C. 

S. Rocha, C. V. Maurer-Morelli, I. Lopes-Cendes, F. M. 

Artiguenave. 

3579F Golden Helix GenomeBrowse: Cloud-enabled 

visual analytics of DNA and RNA-seq NGS data. G. 

Rudy, S. Gardner, M. Thiesen. 

3580W Informatics challenges on utilizing nextgeneration 

sequencing to advance disease 

understanding. S. Saisanit, J. Hakenberg, Y. Li. 

3581F Integrated genome-phenome analysis. M. M. 

Segal, M. S. Williams, J. G. Gleeson. 

3582W Variation data services at NCBI: Archives, tools, 

and curation for research and medicine. S. Sherry, 

K. Addess, V. Ananiev, C. Chen, D. Church, M. Feolo, J. 

Garner, T. Heffron, D. Hoffman, M. Kholodov, A. Kitts, J. 

Lee, J. Lopez, D. Maglott, R. Maiti, L. Phan, G. Riley, W. 

Rubinstein, D. Rudnev, Y. Shao, E. Shekhtman, K. Sirotkin, 

D. Slotta, R. Tully, R. Villamarin-Salomon, Q. Wang, M. H. 

Ward, H. Zhang. 

3583F snpActs: A versatile web interface for 

annotating and prioritizing SNV data sets. B. Stade, D. 

Ellinghaus, B. Petersen, M. Forster, A. Franke. 

3584W Games for gene annotation and phenotype 

classification. A. I. Su, S. Loguercio, C. Wu, B. M. Good. 

3585F HMM-Fisher: A hidden Markov model-based 

method for identifying differential methylation. S. Sun, 

X. Yu. 

3586W Automated HGVS-recommended sequence 

variant description. P. Taschner, J. F. J. Laros, M. 

Vermaat, J. T. den Dunnen. 

3587F RNAseq analysis using the pipeline graphical 

workflow environment in neuropsychiatric disorders. 

F. Torri, I. D. Dinov, A. Zamanyan, S. Hobel, P. Petrosyan, 

Z. Liu, P. Eggert, I. Guella, J. Pierce, A. P. Clark, J. A. 

Knowles, J. Ames, C. Kesselman, A. W. Toga, S. Potkin, 

M. P. Vawter, F. Macciardi. 

3588W ENViz: A Cytoscape plugin for integrative 

statistical analysis and visualization of multiple sample 

matched data sets. A. Tsalenko, A. Kuchinsky, R. Navon, 

M. L. Creech, I. Steinfeld, Z. Yakhini. 

3589F Determining probability of rare variants: Design 

implications for family-based sequencing studies. W. 

Wang, G. Peng. 

3590W Harvest: A web-based biomedical data 

discovery and reporting application development 

platform. P. S. White, B. Ruth, M. J. Italia, J. Miller, J. W. 

Pennington. 

3591F Pinpoint: A new algorithm to detect gene-gene 

interactions in large-scale genome-wide association 

studies. D. Wong, S. Szymczak, J. E. Bailey-Wilson. 

3592W A unified analysis framework for detecting 

genetic variations from next-generation sequencing 

data. C. Xiao, S. Sherry. 


3593F HMM-DM: Identifying differential methylation 

patterns using a hidden Markov model. X. Yu, S. Sun. 

3594W Genotype calling for next-generation 

sequencing data from multiple populations. K. Zhang, 

D. Zhi. 

3595F Detecting structural variants in cancer from 

whole genome and exome sequencing. J. Zhang, Y. Shi, 

W. Foulkes, J. Majewski. 

3596W Causal inference of gene regulation based on 

sub-network assembly. W. Hsieh, C. Peng, A. Dai, S. 

Peng, T. Yen. 

3597F Identification of candidate variants in population 

based whole exome sequencing data through 

integration of functional prediction with bayesian 

penalized regression. J. Lu, A. Sabo, J. Reid, D. Muzny, 

E. Boerwinkle, R. Gibbs, ARRA Autism Sequencing 

Consortium. 

3598W Joint association of multiple correlated 

phenotypes using matrix-variate linear mixed-models. 

N. Furlotte, E. Eskin. 

3599F The human gene connectome: A map of short 

cuts for morbid allele discovery. Y. Itan, S. Y. Zhang, 

G. Vogt, A. Abhyankar, L. Quintana-Murci, L. Abel, J. L. 

Casanova. 

3600W Transcriptome sequencing of nPOD type 

1 diabetes pancreatic samples for viral sequence 

identification. S. Morfopoulou, G. Zhao, R. Ferreira, A. 

Pugliese, J. Petrosino, L. Thackray, V. Plagnol, nPOD-Virus 

Group. 

3601F VARITAS: Variant analysis with rapid 

incorporation of annotation sources. B. Powell. 

3602W Clinical diagnostic tools for family genome and 

exome data. A. Russell, F. De La Vega, J. Rule, M. Reese. 

3603F ASAP: An easy-to-use pipeline for sequencing 

data processing. E. Torstenson, C. Li. 

3604W Identifying biological pathways and human 

diseases in high-throughput human genetic studies. C. 

Xie, X. Mao, J. Huang, Y. Ding, J. Wu, S. Dong, L. Kong, G. 

Gao, C. Li, L. Wei. 

3605F GenAMap: A visual analytics software platform 

for eQTL and GWAS analysis. E. Xing, R. Curtis, S. Lee, 

S. Shringarpure, J. Yin. 

3606W PHV: A high accuracy SNP and indel variant 

caller based on the profile hidden Markov model. M. 

Zhao, W. Lee, G. Marth. 

3607F Developing copy number variation based casecontrol 

association analysis tool and its application for 

disease analysis. Y. Chung, J. H. Kim, H. J. Hu, S. H. Yim, 

J. S. Bae, S. Y. Kim. 


3608W DWAC-seq: Dynamic Window Approach for 

CNV detection using next-generation targeted and full 

genome sequencing tag density. V. Koval, J. van Rooij, 

K. Estrada, P. Arp, M. Jhamai, R. Kraaij, A. Uitterlinden, E. 

Cuppen, V. Guryev. 

3609F Fast detection of de novo copy number variants 

from case-parent SNP arrays identifies a deletion on 

chromosome 7p14.1 associated with non-syndromic 

isolated cleft lip/palate. I. Ruczinski, R. B. Scharpf, S. 

Younkin, H. Schwender, M. Marazita, A. F. Scott, T. H. 

Beaty. 

3610W VarioML framework for comprehensive 

variation data representation and exchange. M. Byrne, 

I. A. C. Fokkema, O. Lancaster, T. Adamusiak, A. Ahonen- 

Bishopp, D. Atlan, C. Beroud, M. Cornell, R. Dalgeish, A. 

Devereau, G. P. Patrinos, M. A. Swertz, P. E. M. Taschner, 

G. A. Thorisson, M. Vihinen, A. J. Brookes, J. Muilu. 

3611F Gene-centered viewing, storing and sharing of 

exome/genome variant and phenotype data. J. T. den 

Dunnen, I. F. Fokkema, I. C. Lugtenburg, J. Hoogenboom, 

Z. Tatum, G. C. P. Schaafsma, M. Vermaat, J. F. J. Laros, P. 

E. M. Taschner. 

3612W Leveraging metadata for experimental 

discovery at the ENCODE portal. E. L. Hong, C. Sloan, V. 

Malladi, K. Rosenbloom, G. Barber, G. Binkley, E. T. Chan, 

R. Fang, B. C. Hitz, D. Karolchik, V. Kirkup, K. Learned, 

J. Long, M. Maddren, M. Wong, A. Zweig, D. Haussler, J. 

Kent, J. M. Cherry. 

3613F A Bayesian hierarchical generalized linear model 

for identifying multiple interacting genes in familybased 

case-control studies. J. Li, N. Yi. 

3614W A national platform for clinical genetic analysis 

of high-throughput sequencing data in Norway. M. 

C. Eike, H. LÊrum, T. Hughes, S. Bremer, S. Bergan, G. 

Thomassen, M. Aanestad, T. Grünfeld, D. E. Undlien. 

3615F Haplotyping human genomes using wholegenome 

sequence data. V. Bansal. 

3616W Comparing protein prediction methods using 

disease-causing missense variants. P. Duggal, Y. Kim, 

M. K. Tilley, M. M. Parker, A. Maroo, A. P. Klein. 

3617F Considerations for the processing and direct-toconsumer 

return of exome sequences. E. D. Harrington, 

C. McLean, A. Shmygelska, A. Chowdry, B. Naughton. 

3618W Topological mapping and exploration of 

genotyping data using Iris. J. Paquette, G. Singh, G. 

Carlsson, P. Y. Lum. 

3619F Development of 1920 barcodes for large-scale 

targeted sequencing using the Access Array system. 

X. Wang, F. Kaper, P. Chen, C. Friedlnader, G. Sun, A. May. 

3620W NGS Catalog: A database of next-generation 

genome sequencing studies in humans. J. Xia, Q. 

Wang, P. Jia, B. Wang, W. Pao, Z. Zhao. 


POSTER SESSIONS


3621F Genotype imputation via matrix completion. E. 

C. Chi, H. Zhou, G. K. Chen, D. Ortega Del Vecchyo, K. 

Lange. 

3622W Phenome-wide association study of common 

PXDN variants demonstrates association with aortic 

aneurysms. J. Denny, L. Bastarache, G. Bhave, S. McCall, 

M. Sample, R. Carroll, P. Peissig, A. Kho, C. McCarty, M. 

Brilliant, J. Cowan, R. Chisholm, E. Larson, G. Jarvik, C. 

Chute, I. Kullo, D. Roden, B. Hudson. 

3623F Rare variant association testing under lowcoverage 

and pooling. E. Halperin, J. H. Sul, O. Navon, 

B. Han, L. Conde, P. Bracci, J. Riby, C. Skibola, E. Eskin. 

3624W BioBin: A bioinformatics tool for biologically 

inspired collapsing of rare variants. C. B. Moore, J. R. 

Wallace, A. T. Frase, S. A. Pendergrass, M. D. Ritchie. 

3625F NCBI’s ClinVar: Data archive and tools for 

human variation of medical interest. D. Maglott, S. 

Chitipiralla, D. Church, M. Feolo, J. Garner, W. Jang, J. 

Lee, R. Maiti, J. Ostell, L. Phan, G. Riley, W. S. Rubinstein, 

D. Shao, S. Sherry, K. Sirotkin, R. Tully, R. Villamarin, M. 

Ward. 

3626W Estimation of haplotype frequencies from 

pooled sequence data. D. E. Kessner, J. Novembre. 

3627F Leveraging the haplotype information in long 

reads for variant calling. A. P. Singh, Y. Shen. 

3628W A model of binding on DNA microarrays: 

Understanding the combined effect of probe synthesis 

failure, cross-hybridization, DNA fragmentation and 

other experimental details of affymetrix arrays. Y. A. 

Jakubek, D. J. Cutler. 

3629F A recursively partitioned mixture model for 

clustering time-course gene expression data. D. C. 

Koestler, C. J. Marsit, B. C. Christensen, K. T. Kelsey, E. A. 

Houseman. 

3630W Probing altered gene expression profiles and 

pathways that affect mitochondrial metabolism in 

cancer cells and neurodegenerative diseases through 

network biology approach. A. D. Yadavalli, N. B. Sepuri. 

3631F Drug repositioning through data integration 

and advanced classification tools. D. Greco, Y. Zhao, F. 

Napolitano, R. Tagliaferri, M. D’Amato, J. Kere. 

3632W Gemini: A flexible, scalable analysis framework 

for medical and population genomics. U. D. Paila, A. R. 

Quinlan. 

3633F NOCALLER: A tool to account for missing 

genotypes. Z. Kronenberg, C. D. Huff, M. Yandell. 

3634W A novel model to predict splicing consequences 

of intronic nucleotide substitutions in the human 

genome. A. Shibata. 

3635F Prioritizing disease-linked variants, genes, and 

pathways with an interactive whole genome analysis 

pipeline for the MedSeq project. S. Kong, K. Lee, K. B. 

Hwang, J. M. Bohn, R. C. Green, I. S. Kohane. 

3636W The 1000 Genomes Project, data availability 

and accessibilty. L. Clarke, H. Zheng Bradley, R. Smith, I. 

Streeter, E. Kulesha, I. Toneva, B. Vaughan, P. Flicek, 1000 

Genomes Project Consortium. 

3637F Bioinformatics optimization for the detection of 

low-level heteroplasmy in the mitochondrial genome in 

myelodysplastic syndrome. S. Dames, E. Duncavage, J. 

Thompson, P. Shami, K. Eilbeck, M. Salama, R. Mao. 

3638W Rare variant discovery in Illumina nextgeneration 

sequencing data: Prediction method to 

differentiate true variants from false positives. J. 

Durtschi, R. L. Margraf, K. V. Voelkerding. 

3639F Memory efficient assembly of mammalian size 

genome. F. Hormozdiari, E. Eskin. 

3640W Target capture-assisted sequence assembly for 

accurate genotyping of insertions and deletions. C. J. 

Kennedy, N. Chennagiri, M. A. Umbarger, G. J. Porreca, P. 

C. Saunders, V. Greger. 

3641F CLC bio’s integrated framework for 

identification and comparison of genomic variants 

in Mendelian diseases. M. Matvienko, A. Joecker, C. 

Boysen, U. Appelt, A. Fejes, L. Kahns, S. Mønsted, J. 

Grydholt, B. Knudsen, M. Bundgaard, J. Buur Sinding, H. 

Handberg, A.-M. Hein, M. Nygaard Ravn, A. Joecker, M. 

VÊrum, R. Forsberg. 

3642W Sensitivity and resolution of whole chromosome 

mapping for detection and characterization of 

structural variations in human genomes. R. Moore. 

3643F Comparison of next-generation sequencing 

alignment programs using 215 whole genomes from 

the Cache County Study on Memory Health and Aging. 

P. G. Ridge, Jr., J. D. Durtschi, C. D. Corcoran, R. G. 

Munger, Q. O. Snell, M. J. Clement, K. V. Voelkerding, J. 

S. K. Kauwe. 

3644W Continuously evolving informatics at a mediumscale 

genomics center. L. Watkins, M. Barnhart, J. 

Goldstein, S. Griffith, E. Hsu, K. Roberts, D. Snyder, B. Craig, 

K. Hetrick, K. Doheny, Center for Inherited Disease Research. 

3645F Genotype concordance between low-coverage 

whole genome and high-coverage exome sequencing: 

Results from the UK10K Study. H. Zheng on behalf of 

UK10K Consortium Cohorts Group. 

3646W Genotype calling and haplotype inference 

for next-generation sequencing data incorporating 

haplotype information in sequencing reads. D. Zhi, K. 

Zhang. 

3647F Exploring why whole genome sequencing 

methods result in different variant calls by comparing 

and integrating multiple datasets. J. M. Zook, D. 

Samarov, M. Salit. 


3648W Next-generation biomarker screening: Using 

Roche’s 454 sequencing platform to identify somatic 

biomarkers. C. Lasyone, X. Tan, A. Pond, L. Szkotnicki, V. 

Venegas, K. B. Thomas, M. Berry, F. Lu. 

3649F De novo assembly of extremely long singlemolecule 

genome maps imaged in Irys nanochannel 

arrays. M. Requa, M. Austin, H. Dai, P. Deshpande, O. 

Hampton, H. Sadowski, M. Saghbini, M. Xiao, H. Cao. 

3650W Defining best practice guidelines for the use of 

NGS applications in genome diagnostics: A national 

collaborative study of Dutch genome diagnostic 

laboratories (LOD). N. van der Stoep, M. M. Weiss, Q. 

Waisfisz, C. Ruivenkamp, M. Nelen, J. D. H. Jongbloed, H. 

Brüggenwirth, M. van Slegtenhorst, R. Lekanne dit Deprez, 

O. Mook, A. Van den Wijngaard, M. Vogel, B. Van der 

Zwaag, M. M. A. M. Mannens, Dutch National Board for 

DNA-Diagnostics (LOD). 

3651F Genome phantasmagoria: Naming genes in 

alternative loci. E. Bruford, R. Seal, M. Wright. 

3652W Rapid preparation of targeted resequencing 

libraries from DNA samples using the Access Array 

system. C. Friedlander, X. Wang, R. Ramakrishnan. 

3653F MitoExome: A custom whole exome kit for 

mitochondrial disease research and diagnosis that 

captures all MitoCarta genes and the mitochondrial 

genome. X. Gai, E. A. Pierce, M. Consugar, M. Lvova, D. 

C. Wallace, E. LeProust, M. J. Falk. 

3654W High-throughput solution for illumina fragment 

library sample preparations. A. Jackson, S. Verrow, M. Blair. 

3655F Comparison of two next-generation sequencing 

technologies on the genomes of a trio family. E. 

Jorgenson, R. Kazma. 

3656W Single-molecule, electronic, solid-state 

sequencing of M13 DNA. J. S. Oliver, B. Bready, D. 

Dederich, J. Freitas, H. Geiser, Y. He, D. Hevroni, M. 

Jouzi, H.-Y. Lee, P. Mukhatira, M. Nadel, J. Sariadaridis, J. 

Thompson. 

3657F Efficient genotyping of individuals using 

overlapping pool sequencing and imputation. Z. Wang, 

F. Hormozdiari, W. Yang, E. Eskin. 

3658W Whole-genome sequencing analysis of SNPs 

and structural variants in DNA from blood versus EBVtransformed 

lymphoblasts from the same subject. X. 

Zhu, C. Laurent, M. Haney, A. E. Urban, D. F. Levinson. 

3659F Genomic capture combined with long read and 

short read high-throughput sequencing for assembly 

of the MHC region. R. J. Bloom, A. L. Collins, A. E. 

Byrnes, Q. Langdon, S. Happe, J. Barboza, O. Hardy, G. 

Yuan, S. Ranade, P. Mieczkowski, P. F. Sullivan. 

3660W Automated pipeline for whole exome/genome 

sequencing analysis on Mendelian diseases. Y. Guo, 

K. Wang. 


3661F Computational analysis of Exome-seq for 

disease gene identification with eDIVA. S. Ossowski, R. 

Rahman, O. Drechsel. 

3662W The biologist’s tool for finding a needle in a 

haystack: CLC bio’s platform to identify interesting de 

novo and accumulative variants in the whole genome 

sequence of family trios. N. Thomson, A. Joecker, C. 

Boysen, M. Matvienko, U. Appelt, A. Fejes, L. Kahns, S. 

Mønsted, J. Grydholt, B. Knudsen, M. Bungaard, J. Buur 

Sinding, H. Handberg, A. Hiene, M. Nygaard Ravn, A. 

Joecker, M. VÊrum, R. Forsberg. 

3663F Ultra-fast clinical sequencing and annotation of 

human genomes on the Illumina HiSeq 2500 platform. 

S. Humphray, J. Weir, Z. Kingsbury, T. James, R. Grocock, 

P. Saffrey, E. Margulies, K. Hall, D. Bentley, G. Smith, J. 

Betley, C. Raczy. 

3664W Managing computing resources in large 

sequencing studies: Strategies and lessons from 

sequencing 2,120 Sardinian genomes. A. Kwong, 

C. Sidore, S. Sanna, H. M. Kang, G. Jun, M. Trost, 

P. Anderson, T. Gliedt, R. Cusano, M. Pitzalis, M. 

Zoledziewska, A. Maschio, F. Busonero, M. Lobina, M. 

Balloi, B. Tarrier, C. Brennan, C. Jones, F. Cucca, G. 

Abecasis, SardiNIA Project. 

3665F Clinical implementation of targeted nextgeneration 

sequencing in a mid-sized diagnostic 

laboratory. H. Racher, L. Dimnik, P. Gordon, M. I. Innes, F. 

Bernier, J. S. Parboosingh. 

3666W High-fidelity sequencing for detection of lowfrequency 

single nucleotide variants. K. M. Squire, Z. 

Chen, S. F. Nelson. 

3667F Species identification by polymorphisms of 

mitochondrial 12S rRNA and 16S rRNA genes. R. Li, L. 

Yang. 

3668W Rapid and efficient methods for preparing 

globin- and rRNA-depleted directional RNA-seq 

libraries. C. Kinross, J. Hitchen, N. Caruccio, R. 

Sooknanan. 

3669F Sequencing performance of FFPE DNA in the 

SureSelect XT2 Target Enrichment System. J. Barboza, 

M. Ramirez, A. Giuffre, J. Ong, H. Ravi, M. Guadalupe, S. 

Joshi, M. Visitacion, C. Pabón-Peña, S. Hunt, B. Novak, D. 

Roberts, S. Happe, E. LeProust. 

3670W Torrent Variant Caller: Enabling next level of 

genomic analysis. D. Brinza, Z. Zhang, E. Tsung, A. 

Joyner, C. Scafe, G. Del Mistro, F. Hyland, E. Beasley, S. 

Utiramerur. 

3671F A next-gen sequencing software workflow for 

cancer genomics on a desktop computer. M. Keyser, K. 

Maxfield, T. Schwei, T. Durfee, A. Pollack-Berti, D. Nash, J. 

Stieren, S. Baldwin, R. Nelson, K. Dullea, J. Schroeder, P. 

Pinnkas, G. Plunkett III, F. Blattner. 


POSTER SESSIONS


3672W Strategy for identification, prediction, and 

prioritization of non-coding variants of uncertain 

significance in heritable breast cancer. P. K. Rogan, E. 

J. Mucaki, A. Stuart, N. Bryans, E. Dovigi, B. Shirley, J. H. 

Knoll, P. J, Ainsworth. 

3673F Genomic approach for environmental stress 

assessment in coral, Scleronephthya gracillimum. S. 

Woo, S. J. Hwang, S. Yum, J. I. Song. 

3674W RNA-seq uncovers the influence of structural 

variants on transcriptome diversity. E. Ait Yahya 

Graison, A. Reymond. 

3675F Detection of local signals in genomics. D. 

Siegmund, B. Yakir, N. Zhang. 

3676W Gene expression profiling of prokaryotic 

samples using LIQA WT kit. N. Guha. 

3677F In silico identification of microRNA-mRNA target 

pairs as potential biomarkers in prostate cancer. J. 

Billaud, C. Tavano, D. Toburen. 

3678W Active learning for phenotype mapping. C. Hsu, 

J. L. Ambite, Y. Arens, L. Lange, S. Sharma, S. Voinea. 

3679F Filtering and annotation of variants that are 

rare: Methods to facilitate the analysis of rare germline 

genetic variants from massively parallel sequencing 

datasets. D. J. Park, T. Nguyen-Dumont, F. Odefrey, A. 

Lonie, M. C. Southey, B. J. Pope. 

3680W Accurate, efficient next-generation DNA 

sequencing for clinical carrier screening. G. J. Porreca, 

M. Umbarger, C. Kennedy, P. Saunders, B. Breton, N. 

Chennagiri, J. Emhoff, V. Greger, D. Maganzini, C. Micale, 

M. Nizzari, C. Towne. 

3681F High-throughput CFTR full-gene analysis using 

Illumina’s MiSeq TruSeq custom amplicon technology. 

J. Radecki, S. Lee, H. Lu, S. Mexal, A. Elliott. 

3682W Sensitive detection of minor variants and viral 

haplotypes using Single-Molecule, Real-Time (SMRT ® ) 

sequencing. A. Sethuraman, Y. Guo, M. Brown, J. Toma, 

A. Newton, W. Huang, M. Sugiyama, C. Petropoulos, M. 

Mizokami, E. Paxinos. 

3683F High-throughput amplicon sequencing using the 

personal genome machine. J. Boland, D. Roberson, M. 

Cullen, M. Yeager, K. Jacobs, S. Chanock, V. Lonsberry. 

3684W A simple method for improving the limit 

of detection for capillary electrophoresis DNA 

sequencing: A comparison of methodologies 

for KRAS variant detection. C. Davidson, E. 

Zeringer, K. J. Champion, M.-P. Gauthier, F. Wang, J. 

Boonyaratanakornkit, J. R. Jones, E. Schreiber. 

3685F HaloPlex target enrichment from FFPE tissues. 

F. Roos, H. Johansson, M. Isaksson, P. Eriksson, L. 

Forsmark, F. Dahl. 

3686W Optimized sample and library preparation of 

FFPE tumor samples for targeted next-generation 

sequencing. N. Udar, R. Haigis, E. B. Jaeger. 

3687F TargetRich: Targeted sub-exome sequencing. 

I. A. Vasenkova, K. Jansen Spayd, T. Shvetsova, D. A. 

Kloske, R. C. Bachmeyer, D. T. Moore, K. E. Varley. 

3688W A functional approach to sequence capture 

analysis of disease pathways. M. Wijdicks, D. Burgess, 

M. D’Ascenzo, M. Brockman, J. Wendt, C. Skalitzky, D. 

Green, T. Richmond, L. Brown, R. Slezer. 

3689F Comparison of two NGS preparation methods 

for preimplantation and prenatal screening and 

diagnostics. J. P. Langmore, E. Kamberov, M. 

Mastronardi, T. Tesmer. 

3690W Droplet digital PCR enables reliable 

discrimination of copy number variation. J. R. Berman, 

N. Heredia, J. Regan, L. Montesclaros, S. Hodges, C. 

Troup, G. Karlin-Neumann. 

3691F Integrating high-quality DNA sequence capture 

with MiSeq for clinical sequencing. P. Shen, W. Wang, A. 

Chi, R. Davis, C. Scharfe. 

3692W Improved performance of solution based target 

enrichment by spike-in of individually synthesized 

capture probes. G. R. Mehta, Locus Development, Inc. 

3693F Accurate multiplexing for clinical next-generation 

DNA sequencing. M. A. Umbarger, G. P. Porreca. 

3694W Enhanced performance of the Illumina MiSeq ® 

next-generation sequencing ecosystem. K. Hall, C. 

Tregidgo, I. Rasolonjatovo, A. Breton, J. Bwanali, A. 

Jackson, E. Vermaas, D. Bond, M. Siu, C. Bruce, A. 

Powell, P. Tran, D. McBride, M. Ross. 

3695F Single-day, highly multiplexed amplicon 

sequencing with MiSeq ® . A. Iyer, A. Tian, K. Chang, 

E. Guzman, E. Upsall, I. Lewis, M. Won, W. Chang, 

D. Pokholok, R. Haigis, S. Norberg, M. Ronaghi, K. 

Gunderson, R. Shen, C. Lin. 

3696W WildFire: A simple monoclonal colony 

generation technology without emulsion PCR. Z. Ma, K. 

Lao, R. Lee, S. Goyal. 

3697F Nextera ® Enrichment: A new Nextera library 

prep protocol for targeted enrichment supporting 12plex 

pre-enrichment sample pooling. P. McInerney, S. 

Melnyk, M. Chen, M. Tsan, S. Cooper, H. Grunenwald, M. 

Lewis, R. Shen, J. Whitacre. 

3698W Development of Ion Torrent’s 400-base 

sequencing technology. X. Peng, G. Luo, T. Lincecum, E. 

Tozer, D. Mazur, K. Aguinaldo, G. Lowman, M. Landes, B. 

Strohecker, T. Nikiforov, P. Vander Horn. 

3699F From tumor to genome sequence with 

nanogram quantities of DNA: Ultralow target capture 

and DNA-Seq from FFPE samples. M. Phelan, L. Pham, 

G. Miyada, S. Kain, T. Cormier. 


3700W GnuBIO desktop sequencer: Fully integrated 

DNA preparation sequencing and analysis. T. Raz, A. 

Aslam, J. Boyce, N. Nerkizian, J. Emhoff, A. Esmall, J. 

Fanning, H. Ghandour, K. Moulton, P. Stokes, T. Hung, S. 

Kiani, P. Mary, J. Healy. 

3701F Utilizing next-generation sequencing for exome 

analysis. K. Stangier, F. Ernst, Y. Kumar, T. Paprotka. 

3702W Novel enrichment reagent for the study of the 

human microbiome. F. J. Stewart, G. R. Feehery, E. Yigit, 

E. T. Dimalanta, B. W. Langhorst, L. M. Apone, P. Liu, D. 

B. Munafo, C. J. Sumner, J. Bybee, L. M. Mazzola, T. B. 

Davis, S. Pradhan. 

3703F Structural variations identified using solid-state 

nanodetectors. J. Thompson, B. Bready, D. Dederich, D. 

Hevroni, M. Jouzi, H.-Y. Lee, D. Lloyd, P. Mukhatira, M. 

Nadel, J. Oliver, J. Saraidaridis. 

3704W Automaton of whole exome and targeted 

sequencing workflows in a high-throughput lab. M. 

Zilka, B. Marosy, A. Robinson, J. Gearhart, B. Craig, J. 

Romm, K. Doheny. 

3705F Automated genomic DNA QC ensures high 

quality data from downstream workflows. M. 

Gassmann, D. Rabiller, A. Padmanaban, D. McDade- 

Walker. 

3706W Optimization of a miRNA expression profiling 

workflow for ion semiconductor sequencing. T. 

Guettouche, J. Clarke, A. Andersen, L. Navarro, Y. 

Cardentey, W. Hulme, G. Bademci, D. Van Booven, D. 

Hedges, M. Pericak-Vance, J. Gilbert. 

3707F Functionalized nanoparticles for effective DNA 

purification. A. Lai, A. Fu. 

3708W POP-ONE: A new sieving matrix for 

capillary electrophoresis that supports a wide range 

of applications with a single instrument set-up. J. 

A. Romero, B. F. Johnson, F. Mercer, J. A. Fisher, D. 

Rodriguez, S. Hung, M. Wenz, W. Liao, J. Lee. 

3709F Automation of the Agilent target enrichment 

portfolio. M. R. Visitacion, J. Karbowski, F. Roos, B. Arezi, 

B. Novak, M. Isaksson, A. Giuffre, S. Happe, D. Roberts, 

E. Leproust, F. Dahl. 

3710W Sequencing of complete HLA haplotypes: 

Resequencing and population studies. M. S. Won, S. 

Norberg, T. Royce, T. Dunn, T. Mann, N. Nemat-Gorgani, L. 

A. Guethlein, L. Abi-Rached, L. Tian, K. L. Gunderson, P. J. 

Norman, M. Ronaghi, P. Parham. 

3711F DNA Sudoku: Hunting rare genetic variations 

using combinatorial pooling. D. Esposito, D. Golan, B. 

Blumenstiel, Y. Erlich. 

3712W From sample collection to bacterial 

identification in a single day: 16s rRNA sequencing 

using novel primers on the Ion Torrent Personal 

Genome Machine. G. S. Watts, M. M. Oshiro, B. W. 

Futscher, D. G. Armstrong. 


3713F Very high resolution HLA genotyping with the 

454 Life Sciences GS FLX system: Simplification 

of workflow using fusion primers or a four primer 

system. B. N. Hoglund, C. L. Holcomb, T. C. Williams, D. 

Goodridge, H. A. Erlich. 

3714W Highly multiplexed amplicon preparation 

for targeted re-sequencing of sample limited 

specimens using the Ion AmpliSeq technology and 

semiconductor sequencing. C. Li, B. Kong, D. Joun, I. 

Casuga, M. Shannon, S. Chen, M. Andersen, D. Ruff, R. 

Bennett. 

3715F A fast solution to NGS library preparation with 

low nanogram DNA input. P. Liu, G. Lohman, E. Cantor, 

B. W. Langhorst, E. Yigit, L. M. Apone, D. B. Munafo, C. 

Sumner, F. J. Stewart, T. C. Evans, E. T. Dimalanta, T. B. 

Davis. 

3716W Pre-capture pooling for targeted enrichment of 

libraries for next-generation sequencing. B. Marosy, B. 

Craig, A. Robinson, M. Zilka, K. Hetrick, S. Griffith, H. Ling, 

J. Romm, K. F. Doheny. 

3717F Rapid and accurate semiconductor-based 

sequencing of human exomes: Workflow and 

performance on a familial trio. G. Meredith, G. Bee, L. 

Pickle, M. Dudas, G. Del Mistro, C. Scafe, M. Schorn, J. 

Miller, M. Minto, B. Reed, G. Fry, J. Gioia, J. Hildebrandt, 

P. Leong, M. Reddy, K. Atehortua-Khalsa, M. Sedova, S. 

McLaughlin, V. Sheth, M. Shah, D. Thomas, H. Breu, M. 

Rhodes, C. Adams, F. Hyland, R. Bennett. 

3718W TotalScript: A versatile and robust tool for 

RNAseq applications. F. Syed, S. Kuersten, A. Radek, R. 

Vaidyanathan. 

3719F Automating high-throughput creation 

of sequencing libraries. J. Bishop, W. Zhang, D. 

Mandelman, M. Allen, A. Harris, R. Bennett. 

3720W Highest sample quality for molecular analysis 

through ambient stabilization technologies: Improved 

genome, transcriptome and proteome analysis from 

saliva, blood and tissue samples. R. Muller, V. Liberal, S. 

Wilkinson, A. Stassinopoulos, J. Muller-Cohn. 

3721F Increased sensitivity in whole-genome bisulfite 

sequencing: A novel ‘post-bisulfite conversion’ library 

construction method for sub-nanogram inputs. R. 

Sooknanan, A. Adey, J. Hitchen, J. Shendure, N. Caruccio. 

3722W Highly efficient miRNA isolation method using 

solid phase reverse immobilization technology and 

Biomek automation. B.-N. Lee. 

3723F miRNA extraction from human plasma using 

high capacity miRNA anti-probe magnetic beads. A. 

Zampetaki, T. Xu, A. V. Vlassov, N. Bernard, M. Mayr. 

3724W Single Molecule Real-Time (SMRT ® ) sequencing 

of genes implicated in autosomal recessive diseases. 

Y. Guo, A. Bashir, E. Gould, R. Kornreich, L. Edelmann, 

T. Brandt, Y. Kasai, J. Chin, E. Paxinos, A. Kasarskis, E. 

Schadt. 


POSTER SESSIONS


3725F Detection of rare somatic mutations using a 

simplified, specific digital PCR workflow with zero 

dead volume. M. C. Pallas, D. Keys, J. Wilde, J. C. Nurse. 

3726W Rapidly profiling thousands of large non-coding 

RNAs and mRNAs from nanogram amounts of total 

RNA using a single microarray design. A. Bergstrom 

Lucas, K. Swaminathan, V. Kulkarni, E. LeProust, S. 

Fulmer-Smentek. 

3727F Development of a system based on SMART 

technology for robust transcriptome library 

preparation from small quantities of degraded sample. 

M. Bostick, C. Chang, A. Farmer. 

3728W Selective sequencing of mature transcripts in 

the human brain by cytoplasmic RNA-seq. A. Zaghlool, 

A. Ameur, J. Halvardson, L. Cavelier, L. Feuk. 

3729F Targeted library preparation for Ion Torrent 

sequencing using HaloPlex PCR. H. Johansson, 

E. Agne, K. Zettermann, M. Isaksson, P. Eriksson, B. 

Skarpås, F. Roos, F. Dahl. 

3730W SNP genotyping using the Affymetrix ® Axiom ® 

2.0 platform. M. Shapero, M. Purdy, H. Dong, S. Hsiung, 

R. Kurapati, J. Law, H. Lee, H. Loi, D. Nguyen, P. H. Wang, 

A. Yan, C. S. Yu, M. Shirazi. 

3731F Information tracking through the use and 

customization of the Exemplar LIMS in a medium 

scale sequencing laboratory. B. Craig, D. Newcomer, S. 

Griffith, B. Marosy, A. Robinson, M. Zilka, K. F. Doheny. 

3732W Locus reference genomic sequences: 

Reference sequences for the reporting of clinically 

relevant sequence variants. J. A. L. MacArthur, A. 

Astashyn, E. Birney, R. Dalgleish, P. Flicek, L. Gil, P. 

Larsson, D. Maglott, W. M. McLaren, R. E. Tully, F. 

Cunningham. 

3733F QC measures for whole exome and targeted 

sequencing library prep and enrichment in a highthroughput 

lab. A. Robinson, M. Zilka, B. Marosy, B. 

Craig, J. Romm, K. Doheny. 

3734W Additional annotation enhances biologically 

relevant sub classification of the Illumina 

HumanMethylation450 BeadChip array. E. Price, A. 

Cotton, L. Lam, E. Emberly, C. Brown, W. Robinson, M. 

Kobor. 

3735F Computer-aided detection of defects 

in Affymetrix CEL data files. D. C. Edwards, A. 

Konkashbaev, A. Pluzhnikov, N. J. Cox, J. B. Tomblin, K. 

L. Mueller. 


EXHIBITORS 

The purpose of the exhibit program is to further the education of registrants by providing an 

opportunity for exhibitors to present information on products or services relevant to registrants’ 

professional interests. In keeping with that purpose, sale and order-taking (entering into 

a contract of sale) are discouraged on the exhibit floor and other related convention areas. 

Registrants are encouraged to view the exhibits in the Exhibit Hall of the Moscone Center 

during the following hours: 

Wednesday, November 7: 10:00 am – 4:30 pm 

Thursday, November 8: 10:00 am – 4:30 pm 

Friday, November 9: 10:00 am – 4:30 pm 

To assist in locating specific products and services of interest, a product and service index 

appears immediately after the exhibitor listings. This index is organized alphabetically by 

products/services, followed by names of exhibiting companies offering the product/services 

and their respective booth numbers. Booth numbers also follow the names of the exhibiting 

companies below. 

ASHG Central – Exhibit Hall Booth 913, Lower Level South 

Visit ASHG Central to address membership questions, view sample publications, apply for 

membership, and to find out more about ASHG. Also available in ASHG Central will be editors 

of The American Journal of Human Genetics (AJHG). The AJHG provides a record of research 

and review relating to heredity in humans, the application of genetic principles in medicine 

and public policy, and related areas of molecular and cell biology, behavioral, molecular, 

biochemical, population and clinical genetics. You can also find more information on the city of 

Boston, Massachusetts, the site of ASHG’s 2013 Annual Meeting and register to win a gift from 

the Boston Convention and Visitor’s Bureau! 

ASHG Central is located in booth #913, in the very center of the Exhibit Hall! It is open during 

exhibit hours and will have comfortable seating, charging stations, Wi-Fi access, and much 

more! We hope you stop by to see us while visiting the exhibits and posters. You can also 

meet ASHG 2012 Board and Program Committee members during poster session hours. Make 

ASHG Central your destination for networking, plugging in, and for all the ASHG information 

you need! 

Social Media Zone – Exhibit Hall Booth 1525 

The Social Media Zone in the Exhibit Hall is for those who want to explore the world of ASHG 

and Social Media. Get better acquainted with Twitter and meet your expert users, or get tips so 

you can become a Twitter user! Catch up on the #ASHG2012 Twitter stream live, recharge your 

devices, use Wi-Fi, and have insightful face-to-face conversations with your fellow attendees. 

Stop by to ask questions of and meet three top genomics “Tweeps.” Three power Twitter users 

will be in the booth daily from 1:00 pm – 1:30 pm: 

Wednesday, November 7 Chris Gunter – @girlscientist 

Thursday, November 8 William Bush – @vubush 

Friday, November 9 Daniel MacArthur – @dgmacarthur 

EXHIBITORS

The Heart of the Exhibit Hall 

Get Answers at the ASHG Membership booth 

Meet your Editors at the American Journal of Human Genetics booth 

Learn about Boston, the destination for ASHG 2013 

Meet Society Leadership 

Sit down in our seating area 

Recharge your electronics 

Network Net with colleagues 

Central

We enable people 

with life-altering conditions 

to lead better lives. 

Come visit us at ASHG Booth 600. 

US/COR-00695 

To be as brave as the people we help.

We enable people 

with life-altering conditions 

to lead better lives. 

Come visit us at ASHG Booth 600. 

US/COR-00695 

To be as brave as the people we help.

NOTES

NOTES

VISIT THE EXHIBITS AND POSTERS 

Wednesday: 10:00 am – 4:30 pm 

Thursday: 10:00 am – 4:30 pm 

Friday: 10:00 am – 4:30 pm

FACILITY 

STORAGE 

1268 

1269 

1267 

1266 

1188 

1189 

1187 

1186 

980 

981 

979 

978 

900 

901 

899 

898 

692 

693 

691 

690 

612 

613 

611 

610 

484 

485 

483 

482 

436 

437 

435 

434 

FACILITY 

STORAGE 

EXITS 

1398 

1399 

1397 

1396 

1338 

1339 

1337 

1336 

Statistical Genetics/ 

Genetic Epidemiology 

1116 

1117 

1115 

1114 

1052 

1053 

1051 

1050 

765 

763 

762 

Pharmacogenetics 

540 

541 

539 

538 

Cancer 

Genetics 

Cancer 

Genetics 

Cytogenetics 

Development 

828 

829 

827 

826 Therapy/ 

764 Genetic Disorders 

Metabolic 

Disorders 

Genome Structure, 

Variation/Function 

PERS 

1410 

1411 

1385 

1384 

1350 

1351 

1325 

1324 

1290 

1291 

1245 

1244 

1210 

1211 

1165 

1164 

1130 

1131 

1101 

1100 

1066 

1067 

1037 

1036 

1002 

1003 

957 

956 

922 

923 

877 

876 

842 

843 

813 

812 

778 

779 

749 

748 

714 

715 

669 

668 

634 

635 

589 

588 

554 

555 

525 

524 

506 

507 

461 

460 

458 

459 

413 

412 

Exit #1 

Exit #4 

1412 

1413 

1383 

1382 

1352 

1353 

1323 

1322 

1292 

1293 

1243 

1242 

1212 

1213 

1163 

1162 

1132 

1133 

1099 

1098 

1068 

1069 

1035 

1034 

1004 

1005 

955 

954 

924 

925 

875 

874 

844 

845 

811 

810 

780 

781 

747 

746 

716 

717 

667 

666 

636 

637 

587 

586 

556 

557 

523 

522 

PERS 

100 

1426 

1427 

1369 

1368 

1366 

1377 

1309 

1308 

1306 

1307 

1229 

1228 

1226 

1227 

1149 

1148 

1146 

1147 

1085 

1084 

1082 

1083 

1021 

1020 

1018 

1019 

941 

940 

938 

939 

861 

860 

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FLOOR PLAN OF EXHIBIT AND POSTER AREA 

ASHG 62ND ANNUAL MEETING 

MOSCONE CENTER-SOUTH HALLS ABC 

ELSI 


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Molecular Basis of 

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E nt rance Exhibitor Lounge 

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PEDESTRIAN RAMP 

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Molecular Basis of 

Mendelian Disorders 

Prenatal, Perinatal/ 

Reproductive Genetics 

Clinical Genetics/ 

Dysmorphology 

Evolutionary/ 

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Epigentics 

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Freeman 

Service Desk 

Lead 

Retrieval 

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Retrieval 

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Exhibitors 

■ 23andMe, Inc ............................................. 826 

Tel: 650-963-8937 

Email: mdelsol@23andme.com 

URL: http://www.23andme.com 

23andMe, Inc. is a leading personal genetics 

company dedicated to helping individuals understand 

their own genetic information through DNA analysis 

technologies and web-based interactive tools. The 

vision for 23andMe is to personalize healthcare 

by making and supporting meaningful discoveries 

through genetic research. More information is 

available at www.23andme.com. 

■ Abbott Molecular ...................................... 625 

Tel: 224-361-7000/800-553-7042 

Email: customerservice@abbottmolecular.com 

URL: http://www.abbottmolecular.com 

Abbott Molecular is a leader in molecular 

diagnostics for the analysis of DNA, RNA, and 

proteins. Our instruments and reagents detect 

pathogens and subtle changes in patients’ genes 

and chromosomes, permitting earlier diagnosis, the 

selection of appropriate therapies and improved 

monitoring of disease progression. 

■ Accelrys, Inc. ............................................. 421 

Tel: 858-799-5000 

Email: byron.konold@accelrys.com 

URL: http://www.accelrys.com 

Accelrys (NASDAQ:ACCL), a leading scientific 

enterprise R&D software and services company, offers 

industry-leading capabilities in modeling and simulation, 

enterprise lab management, workflow and automation 

and data management and informatics supporting 

improved scientific innovation lifecycle management. 

Accelrys electronic lab notebooks include the flexible 

Contur ELN, Symyx Notebook by Accelrys and 

VelQuest SmartLab. Visit www.accelrys.com. 

■ Actelion Pharmaceuticals US, Inc. .......... 401 

Tel: 41 61 565 83 65 

Email: stephane.dazet@actelion.com 

URL: http://www.actelion.com 

Actelion US is a biopharmaceutical company focusing 

on the discovery, development and commercialization 

of innovative treatments to serve high unmet 

medical needs. Zavesca ® (miglustat) is indicated 

for the treatment of adult patients with mild to 

moderate type 1 Gaucher disease for whom enzyme 

replacement therapy is not a therapeutic option. 

= First time exhibitor 

Shaded = Meeting Supporter 

EXHIBITORS 273 

■ Active Motif, Inc ........................................ 427 

Tel: 760-431-1263 

Email: rubin@activemotif.com 

URL: http://www.activemotif.com 

Active Motif: Enabling Epigenetic Research. 

Active Motif is dedicated to developing and delivering 

innovative cell biology-based research tools and 

biocomputing resources that help researchers 

worldwide in their quest to elucidate the function, 

regulation and interactions of the genes and their 

encoded proteins. 

■ Advanced Analytical ............................... 1304 

Tel: 515-296-6600 

Email: rschmidt@aati-us.com 

URL: http://www.aati-us.com 

Advanced Analytical Technologies, Inc. 

Our newest instrument, the Fragment Analyzer 

Automated CE System, uses capillary electrophoresis 

for rapid and accurate analysis of Next Gen 

Sequencing (NGS) fragment libraries by automating 

the separation of fragments. Additionally, it can 

be used on RNA and genomic DNA. The system 

improves workflow and eliminates bottlenecks. 

■ Affymetrix, Inc. .......................................... 918 

Tel: 408-731-5000/800-223-5281 

Email: sales@affymetrix.com 

URL: http://www.affymetrix.com 

Affymetrix powers the Genome Generation to 

advance our understanding of human biology and 

disease by providing solutions supporting a wide 

range of applications for genetic origin discovery, 

functional characterization, and translational research. 

Whether you perform genome-wide association 

studies, targeted genotyping, cancer or constitutional 

cytogenetics and copy number analysis, wholetranscript 

profiling, microRNA analysis, resequencing, 

or in situ hybridization, visit us for proven and tailored 

solutions to your research needs. 

■ Agilent Technologies ................................ 609 

Tel: 800-227-9770 

Email: agilent_inquiries@agilent.com 

URL: http://www.genomics.agilent.com 

Agilent’s portfolio includes the leading SureSelect 

and HaloPlex Target Enrichment Next-Generation 

Sequencing Platforms, Gene Expression and 

Cytogenetic Microarrays, GeneSpring and 

Cytogenomics Software, qPCR, PCR, Mutagenesis, 

Cloning, and SureFISH probes. Agilent offers the 

Bioanalyzer & TapeStation instruments for sample QC, 

and Automation for optimized workflow productivity. 

EXHIBITORS

274 EXHIBITORS 

■ AGRE-Autism Genetic Resource 

Exchange ...................................................... 319 

Tel: 323-297-4716 

Email: rbutler@agre.org 

URL: http://www.agre.org 

The Autism Genetic Resource Exchange (AGRE) is 

a program of Autism Speaks to advance genetic 

research in Autism Spectrum Disorders (ASDs). 

Genetic biomaterials and clinical data are obtained 

from families that have more than one family member 

diagnosed with an ASD. The biological samples, 

along with the accompanying clinical data, are made 

available to AGRE-approved researchers. 

■ Alexion Pharmaceuticals ....................... 1410 

Tel: 203-272-2596 

Email: millerg@alxn.com 

URL: http://www.alxn.com 

Alexion Pharmaceuticals is a biopharmaceutical 

company focused on serving patients with severe 

and ultra-rare disorders through the innovation, 

development and commercialization of lifetransforming 

products. Alexion developed and 

markets Soliris ® (eculizumab) as a treatment for 

patients with PNH and aHUS. Alexion is evaluating 

other potential indications for Soliris and is 

developing four other innovative product candidates 

■ Ambry Genetics......................................... 311 

Tel: 949-900-5560/866-262-7943 

Email: bneal@ambrygen.com 

URL: http://www.ambrygen.com 

Ambry Genetics redefines diagnostic and genomic 

services through innovation and ingenuity. Extensive 

testing menus include: Diagnostic Exome, Oncology, 

Cardiology, Neurology and Pulmonology panels. 

Our genomic services focus on next-generation 

sequencing, exome sequencing, microarrays, targeted 

enrichment, genotyping and bioinformatics to offer 

cost effective and research specific solutions. For 

more information please visit: www.ambrygen.com 

■ American Board of Medical Genetics ..... 225 

Tel: 301-634-7315 

Email: abmg@abmg.org 

URL: http://www.abmg.org 

The American Board of Medical Genetics (ABMG), 

member board of the ABMS, serves the public and 

the medical profession by promoting and assuring 

standards of excellence in medical genetics. ABMG 

accredits training programs, credentials and certifies 

practitioners of medical genetics, and fosters life-long 

learning through maintenance of certification. 



■ American College of Medical Genetics 

and Genomics (ACMG) ................................ 318 

Tel: 301-718-9603 

Email: acmg@acmg.net 

URL: http://www.acmg.net 

To improve health through medical genetics, the 

American College of Medical Genetics and Genomics 

will define and promote excellence in medical genetics 

practice and the integration of translational research 

into practice; promote and provide medical genetics 

education; and increase access to medical genetics 

services and integrate genetics into patient care. 

■ American Journal of Human Genetics .... 913 

Tel: 866-314-2355 

Email: ajhg@ajhg.net 

URL: http://www.ajhg.org 

The American Journal of Human Genetics (AJHG) 

provides a record of research and review relating to 

heredity in humans, and the application of genetic 

principles in medicine and public policy, and related 

areas of molecular and cell biology, behavioral, 

molecular, biochemical, population and clinical 

genetics. 

■ American Society of Human Genetics .... 913 

Tel: 301-634-7300/(866) HUMGENE 

Email: society@ashg.org 

URL: http://www.ashg.org 

ASHG Central is located in booth #913, the very 

center of the Exhibit Hall! It is open during exhibit 

hours and will have comfortable seating, charging 

stations, Wi-Fi access, and much more! We hope 

you stop by to see us while visiting the exhibits 

and posters. You can also meet ASHG 2012 Board 

and Program Committee members during poster 

session hours. Make ASHG Central your destination 

for networking, plugging in, and for all the ASHG 

information you need! 

■ Amicus Therapeutics, Inc. ....................... 511 

Tel: 609-662-2000 

Email: info@amicustherapeutics.com 

URL: http://www.amicustherapeutics.com 

Amicus Therapeutics is a biopharmaceutical company 

at the forefront of developing therapies for rare 

and orphan diseases. The company is developing 

orally administered, small molecule drugs called 

pharmacological chaperones, a novel, first-in-class 

approach to treating a broad range of diseases 

including lysosomal storage disorders and diseases of 

neurodegeneration.

■ AnaSpec Inc, Eurogentec Group ........... 1100 

Tel: 510-791-9560/800-452-5530 

Email: theresa@anaspec.com 

URL: http://www.anaspec.com 

AnaSpec, EGT Group, a leading provider of integrated 

proteomic and genomic solutions, offers expertise 

in peptides, antibodies, assay kits, fluorescent dyes, 

unusual amino acids and qPCR. We have qPCR 

mastermixes plates and tubes for every Real Time 

PCR platform plus excellent technical support, as 

well as housekeeping genes’ primers/probes/assays. 

■ Applied Spectral Imaging, Inc................ 1220 

Tel: 760-929-2840/800-611-3466 

Email: sales@spectral-imaging.com 

URL: http://www.spectral-imaging.com 

Applied Spectral Imaging makes patient care better 

through advanced biomedical imaging. ASI offers 

cytogeneticists and pathologists accurate analysis by 

providing state- of-the-art diagnostic aids. ASI has 

over 2,500 systems deployed worldwide, offices in 

the U.S., Europe and Asia as well as a global network 

of over 50 distributors. 

■ Applied StemCell, Inc. .............................. 527 

Tel: 1-408-773-8007/1-866-497-4180 

Email: info@appliedstemcell.com 

URL: http://www.appliedstemcell.com 

TARGATT Gene Targeting in Cell Lines: Applied 

StemCell Inc. (ASC) is a fast growing biotechnology 

company with its headquarter based in Menlo Park, 

California. With solid expertise and extensive experience 

in stem cell and transgene technologies, ASC focuses 

on the application of new technologies for stem cell 

and transgenic communities. Based on Proprietary 

Technologies, we offer a customized Fast & Site- 

Specific gene targeting service for any cell line for your 

projects, e.g.Gene Editing, Gene Modification, Cell- 

Based Assays and Drug Screening (HTP Screening). 

■ Ariosa Diagnostics .................................. 1609 

Tel: 855-927-4672/1-855-9-ARIOSA 

Email: ClientServices@ariosadx.com 

URL: http://www.ariosadx.com 

Ariosa Diagnostics, Inc., is a molecular diagnostics 

company committed to providing safe, highly accurate 

and affordable prenatal tests for maternal and fetal 

health. Led by an experienced team, Ariosa is using its 

proprietary technology to perform a directed analysis 

of cell-free DNA in blood. Ariosas simple blood 

test equips pregnant women and their healthcare 

providers with reliable information to make decisions 

regarding their health, without creating unnecessary 

stress or anxiety.The company began operations in 

2010 and is headquartered in San Jose, Calif. 




■ ARUP Laboratories ................................. 1518 

Tel: 801-583-2787/800-242-2787 

Email: christina.m.sellers@aruplab.com 

URL: http://www.aruplab.com/genetics 

ARUP Laboratories is a leading national reference 

laboratory offering more than 3,000 tests and test 

combinations, ranging from routine screening 

tests to esoteric molecular and genetic assays. 

ARUP Laboratories Genetics Division offers testing 

in all areas of genetics, including biochemical, 

cytogenetics, microarray, and next-generation 

sequencing. www.aruplab.com/genetics 

■ ASHG/FASEB Career Resources ........... 1702 

Tel: 860-437-5700 

Email: clientserv@jobtarget.com 

URL: http://careers.faseb.org 

FASEB’s Career Resources are designed to provide 

career information and facilitate employment 

connections in the life sciences community. These 

resources embody new concepts, technologies, 

and services, as well as the best of our “FASEB 

Placement Service.” Our main focus is to help 

develop biomedical careers, so whether an 

undergraduate, postgraduate, postdoctoral, 

seasoned scientist, or an employer seeking to hire 

top-notch scientists and professionals, the resources 

and tools found here are designed to help. 

■ Asper Biotech Ltd. .................................. 1418 

Tel: 372-7307-295 

Email: info@asperbio.com 

URL: http://www.asperbio.com 

Asper Biotech is a genetic testing company 

specialized in retinal disorders, reproductive medicine 

and oncology. Asper Ophthalmics testing portfolio 

includes a comprehensive panel of tests targeting 

hereditary eye disorders. Asper Oncogenetics offers 

tests to determine predisposition to various cancers. 

Asper Reprogenetics provides tests for reproductive 

problems and prenatal diagnostics. 

■ Asuragen, Inc. ........................................... 503 

Tel: 512-681-5200/877-777-1874 

Email: jbourland@asuragen.com 

URL: http://www.asuragen.com 

Asuragen is a fully integrated molecular diagnostic 

company using the genome to drive patient 

management. We offer diagnostics products and 

clinical laboratory services focused on innovative 

PCR-based approaches for Fragile X testing (FMR1 

gene), AmplideX and Xpansion Interpreter for detection 

of methylation status and determination of AGG 

sequence detection (number and location). To learn 

more, visit www.asuargen.com. 

EXHIBITORS


■ Athena Diagnostics ................................ 1308 

Tel: 508-756-2886/800-394-4493 

Email: melissa.s.hodgson@athenadiagnostics.com 

URL: http://www.athenadiagnostics.com 

Athena Diagnostics is a leader in diagnostic testing 

for neurological diseases. Athena, a division of Quest 

Diagnostics, is dedicated to providing neurologists 

and other physicians and specialists with insights that 

can improve patient health. Athena provides the most 

comprehensive test menu and intellectual property 

portfolio for neurological, endocrine, and renal 

conditions through more than 350 diagnostic tests. 

■ AutoGen, Inc. ............................................. 807 

Tel: 508-429-5965/800-292-5678 

Email: info@autogen.com 

URL: http://www.autogen.com 

The AutoGen FLEX STAR is the finest automated 

system available for extracting DNA from large 

volumes of whole blood, cells and saliva. The FLEX 

STAR features positive sample tracking and all the 

sample processing capacity you will need for real 

productivity. In addition, its outstanding reliability 

makes it a system you can count on day in and 

day out. Backed by AutoGen’s best in the industry 

customer support, the FLEX STAR provides you with 

tools you need to PREP WITH CONFIDENCE. 

■ Axeq Technologies .................................... 820 

Tel: 240-314-0570/1-855-864-2937 

Email: jbae@axeq.com 

URL: http://www.axeq.com 

Axeq Technologies is dedicated to providing a 

premier level of Next-Generation Sequencing 

services to researchers and scientists worldwide. 

Axeq represents a high level of dedication to quality 

of work, customer services and scientific integrity. 

Axeq also embraces the highest standard U.S. and 

European business practices and ethical standards. 

■ Baylor College of Medicine, Medical 

Genetics Laboratories................................. 711 

Tel: 713-798-6555/800-411-4363 

Email: medgen@bcm.tmc.edu 

URL: http://www.bcmgeneticlabs.org 

Baylor College of Medicine’s, Medical Genetics 

Laboratories offer a broad range of diagnostic 

genetics tests including DNA diagnostics, 

sequencing, cytogenetics, FISH diagnostics, cancer 

cytogenetics, chromosomal microarray analysis, 

whole exome sequencing, biochemical genetics, and 

mitochondrial DNA analysis. Please visit our booth for 

more information. 



■ BC Platforms Ltd ...................................... 819 

Tel: 358 9 2517 7340 

Email: info@bcplatforms.com 

URL: http://www.bcplatforms.com 

BC Platforms provides advanced data management 

solutions for GWAS, SNP and next-generation 

sequencing projects. Combine genotypes and 

phenotypes to create efficient workflows for highperformance, 

distributed data analysis using over 

30 academic software programs. A web-interface 

provides multiple users parallel access to the 

database for secure data analysis and results sharing. 

■ Beckman Coulter, Inc. ............................ 1601 

Tel: 800-742-2345 

URL: http://www.beckmancoulter.com 

■ BGI ............................................................ 1419 

Tel: 617-500-2741 

Email: info@bgiamericas.com 

URL: http://www.bgiamericas.com 

BGI, the worlds largest genomics organization, provides 

comprehensive sequencing and bioinformatics services 

for medical, agricultural and environmental applications. 

With cutting-edge technologies and an experienced 

team that has generated over 250 publications in top 

tier journals, BGI delivers rapid, cost-effective, and 

high quality results that enable researchers to achieve 

scientific breakthroughs. 

■ Biobase Corporation .............................. 1319 

Tel: 978-922-1643/800-305-0670 

Email: info@biobase-international.com 

URL: http://www.biobase-international.com 

BIOBASE is a leading provider of manually-curated 

databases for molecular diagnostics. The Human Gene 

Mutation Database (HGMD ® ) and Genome Trax 

offers well-structured data, assembled by qualified 

experts, organized in an easily searchable manner that 

enables researchers to make clinical interpretations of 

data arising from next-generation sequencing efforts. 

■ BioChain Institute Inc ............................. 1611 

Tel: 510-783-8588/888-762-2568 

Email: info@biochain.com 

URL: http://www.biochain.com 

BioChain provides high quality processed bio-sample 

products and analysis services for translational 

medicine, clinical product research and development. 

BioChains’ products and services are available for 

DNA and RNA sequencing, PCR and RT-qPCR, gene 

expression, DNA/RNA purification, protein extraction/ 

purification, and expression analysis.

■ BioDiscovery, Inc. ..................................... 813 

Tel: 310-414-8100 

Email: customerservice@biodiscovery.com 

URL: http://www.biodiscovery.com 

BioDiscovery develops, markets and sells advanced 

software solutions for the analysis of data from 

high-throughput microarray and next-generation 

sequencing technologies. BioDiscovery provides a 

full line of modular software packages built for power, 

versatility, and efficiency spanning image analysis, 

microarray data processing, and advanced analysis of 

CNV, expression, and methylation data. 

■ BioDot, Inc. ................................................ 308 

Tel: 949-440-3685 

Email: biodot@biodot.com 

URL: http://www.biodot.com 

■ BioFire Diagnostics .................................. 719 

Tel: 801-736-6354/800-735-6544 

Email: cameron.gunary@biofiredx.com 

URL: http://www.filmarray.com 

Idaho Technologies is now BioFire Diagnostics. 

BioFire Diagnostics has a 22 year history of PCR 

innovation. Our LightScanner ® Hi-Res Melting ® 

systems and LCGreen Plus ® reagents will take 

your hypotheses to publications more efficiently. 

LightScanner systems provide the best quality, most 

easily accessed Hi-Res Melting data on the market. 

Stop by booth #719 and see why! 

■ Bioline USA Inc. ...................................... 1324 

Tel: 508-880-8990/888-257-5155 

Email: info.us@bioline.com 

URL: http://www.bioline.com 

Bioline is ISO 9001:2008 certified and one of the 

worlds few manufacturers of dNTPs. Bioline is able to 

offer bulk, custom and OEM dNTP services. We have 

developed and manufacture more than 300 reagents 

and kits for molecular biology, cell analysis and 

nucleic acid and protein separation and purification. 

■ BioMarin Pharmaceutical Inc. ............... 1619 

Tel: 415-506-6700 

Email: kward@bmrn.com 

URL: http://www.bmrn.com 

BioMarin develops and commercializes innovative 

biopharmaceuticals for serious diseases and medical 

conditions. Approved products include the first and 

only enzyme replacement therapies for MPS I and MPS 

VI and the first and only FDA-approved medication for 

PKU. Visit www.BMRN.com to learn more. 




■ BioMarin Scientific Exchange ................ 1524 

Tel: 415-506-6781 

Email: kward@bmrn.com 

URL: http://www.bmrn.com 

BioMarin develops and commercializes innovative 

biopharmaceuticals for serious diseases and medical 

conditions. Approved products include the first 

and only enzyme replacement therapies for MPS I 

and MPS VI and the first and only FDA-approved 

medication for PKU. Visit www.BMRN.com to 

learn more. 

■ BioNano Genomics, Inc. ........................... 924 

Tel: 858-888-7600 

Email: info@bionanogenomics.com 

URL: http://www.bionanogenomics.com 

BioNano Genomics platform provides 

unprecedented understanding of whole-genome 

biology. The technology enables highly parallel 

visualization of extremely long DNA molecules 

at single-molecule scale, capturing biologically 

meaningful positional information. By retaining 

architectural context, the data facilitates more 

complete genome assembly and broad detection of 

structural variants. 

■ Bio-Rad ...................................................... 524 

Tel: 510-741-1000/800-4-BIORAD 

Email: lsg.orders.us@bio-rad.com 

URL: http://www.discover.bio-rad.com 

Providing instrumentation and reagents to support 

life science research. Depend on Bio-Rad for tools, 

technologies and expertise to enable genomic 

and proteomic analysis. Products for droplet 

digital PCR, conventional and real-time PCR, SPR, 

transfection, RNAi, biomarker expression profiling, 

xMAP technology, cancer biomarkers, expression 

proteomics, electrophoresis, blotting-systems, 

chromatography, imaging. 

■ BioReliance ............................................... 604 

Tel: 301-738-1000/800-553-5372 

Email: genomicservices@bioreliance.com 

URL: http://www.bioreliance.com 

BioReliance Genomics: the premier service provider 

supporting clinical trials from Phase I to post market 

monitoring. We apply over 60 years of regulatory 

and validation expertise to novel highly-multiplexed 

detection technologies and bioinformatics for RNA 

expression analysis and targeted human genotyping, 

including NGS and the Illumina VeraCode ADME 

core panel. 

EXHIBITORS


■ BioTeam Inc. .............................................. 109 

Tel: 978-304-1222 

Email: stan@bioteam.net 

URL: http://www.bioteam.net 

BioTeam is a unique consulting practice dedicated 

to delivering objective, diagnostic solutions to our 

clients using technology to solve complex genetic 

problems. BioTeam has compiled our best practices 

for managing sequencing data into a simple and 

cost-effective solution called MiniLIMS. MiniLIMS the 

next-generation LIMS you can afford. 

■ BioTechniques......................................... 1604 

Tel: 212-520-2714 

Email: christine.briglia@informausa.com 

URL: http://www.biotechniques.com 

BioTechniques, the international journal of life science 

methods, provides open access to first-quality, 

peer-reviewed papers on laboratory techniques and 

protocols. Now in its 53rd volume, BioTechniques has 

over 80,000 print subscribers worldwide. The journal 

augments its peer-reviewed content with feature 

articles and topic-specific supplements. Visit 

www.biotechniques.com for more details. 

■ BlueGnome Limited .................................. 209 

Tel: 44 1223 885990/800-418-9656 

Email: info@cambridgebluegnome.com 

URL: http://www.cambridgebluegnome.com 

BlueGnome (www.cambridgebluegnome.com) 

works with clinical and scientific communities to 

design, manufacture and supply microarray-based 

products for the investigation of genetic disorders. 

Products are supplied to hospitals, genetics 

centers and IVF clinics worldwide where they are 

used to investigate developmental delay, specific 

cancers and an associated list of known genetic 

syndromes. 

■ Boreal Genomics ...................................... 724 

Tel: 604-822-8268/800-681-5644 

Email: info@borealgenomics.com 

URL: http://www.borealgenomics.com 

Boreal provides systems and laboratory services for 

high sensitivity profiling of cancer mutations from 

plasma and low tumor content samples. 



■ Cartagenia ............................................... 1022 

Tel: 617-475-5105 

Email: info@cartagenia.com 

URL: http://www.cartagenia.com 

Cartagenia provides reliable software allowing genetic 

labs and clinicians to perform clinically relevant 

analyses efficiently. With BENCH lab CNV for 

cytogenetics and BENCH lab NGS for sequencing, 

your lab technicians, directors, counselors and 

scientists have the right tools and knowledge at their 

fingertips supporting variant triage and automating 

lab reporting. 

■ Cell Press ................................................. 1212 

Tel: 617-661-7057/888-437-4636 

Email: usinfo-f@elsevier.com 

URL: http://www.cell.com 

Cell Press publishes the American Journal of Human 

Genetics, the premier journal of the American Society 

of Human Genetics. Visit booth #1212 to learn more 

about this exciting partnership and ASHG member 

discounts on journals, including Cell, Molecular Cell, 

and Cell Stem Cell. New for 2012, Cell Reports an 

open access journal spanning the entire life sciences 

spectrum. www.cell.com 

■ Center for Inherited Disease Research 

(CIDR) ........................................................... 119 

Tel: 410-550-7116 

Email: kimkutchins@jhmi.edu 

URL: http://www.cidr.jhmi.edu 

The Johns Hopkins University Center for Inherited 

Disease Research (CIDR) provides high quality 

next-generation sequencing and genotyping services 

to investigators working to discover genes that 

contribute to common disease. CIDR offers custom 

targeted and whole exome sequencing services 

as well as GWAS, custom, epigenetic and linkage 

genotyping. www.cidr.jhmi.edu 

■ Centogene AG ......................................... 1026 

Tel: 49 3812036520 

Email: office@centogene.com 

URL: http://www.centogene.com 

CENTOGENE, The Rare Disease Company, is a global 

leader in the field of molecular diagnostics. Extremely 

short turn-around-times, analysis and interpretation 

by medical experts is guaranteed. CENTOGENE 

provides prenatal analysis, newborn screening, and 

the analysis of biomarkers for metabolic diseases. 

CENTOGENE works with international partners 

developing new orphan drugs.

■ chemagen from PerkinElmer ................. 1426 

Tel: 203-925-4602/800-762-4000 

Email: CustomerCareUS@perkinelmer.com 

URL: http://www.PerkinElmer.com 

chemagen is a leading supplier of automation and 

reagents for fast and reliable magnetic bead based 

DNA and RNA extraction for sample volumes from 

10 ul to 10 ml for blood, tissues, saliva, bacteria, 

food, PCR products, etc. The one instrument 

performs all functions with fast processing, 

unmatched sample volume range and robust 

chemistry. 

■ Children’s Hospital of Philadelphia ......... 327 

Tel: 215-590-6528 

Email: RobertsJ1@email.chop.edu 

URL: http://www.chop.edu/labs 

Founded in 1855, The Children’s Hospital of 

Philadelphia is the birthplace of pediatric medicine 

in America. A passionate spirit of innovation has 

driven this renowned institution to pursue scientific 

discovery, establish the highest standards of care, 

and deliver diagnostic services that help children 

around the world lead happier, healthier lives. 

■ CIHR Institute of Genetics ..................... 1321 

Tel: 613-957-6126 

URL: http://www.cihr.gc.ca/e/13147.html 

The CIHR Institute of Genetics supports research 

on the human and model genomes and on all 

aspects of genetics, basic biochemistry and cell 

biology related to health and disease, including 

the translation of knowledge into health policy and 

practice, and the societal implications of genetic 

discoveries. 

■ Cincinnati Children’s Hospital Medical 

Center ......................................................... 1505 

Tel: 513-636-7355 

Email: askthelab@cchmc.org 

URL: http://www.cincinnatichildrens.org/ 

clinicallab 

The clinical laboratories at Cincinnati Children’s 

Hospital Medical Center offer quick, convenient 

diagnostic laboratory services designed and 

interpreted by world renowned clinical experts. 

We have over 400 specialty tests, and have 

specialty programs and expertise in molecular 

diagnostics, cardiology, immunodeficiencies, and 

cytogenetics. 




■ City of Hope Clinical Molecular Diagnostic 

Laboratory .................................................... 321 

Tel: 626-256-4673 x 64401/888-826-4362 

Email: mdl@coh.org 

URL: http://mdl.cityofhope.org 

The City of Hope Molecular Diagnostic Laboratory 

(MDL) specializes in clinical genetic testing 

services for cancer predisposition, coagulopathies, 

connective tissue disorders, muscular dystrophies, 

neuropsychiatric disorders and pharmacogenetics. 

For more up-to-date information about our tests, 

please visit our website at http://mdl.cityofhope.org 

■ CLC bio ...................................................... 501 

Tel: 617-444-8765 

Email: alykkebak@clcbio.com 

URL: http://www.clcbio.com 

CLC bio is the world’s leading bioinformatics 

solution provider and the only one that provides both 

desktop and server software seamlessly integrated 

and optimized for best performance. By developing 

their own proprietary algorithms, CLC bio scientists 

have successfully parallelized the data calculations 

to achieve remarkable improvements in speed over 

comparable solutions. 

■ Clontech Laboratories, A Takara 

Bio company .............................................. 1708 

Tel: 608-310-3516 

Email: leslie_miller@clontech.com 

URL: http://www.clontech.com/takara 

Reliable and innovative research reagents from 

Takara Bio and Clontech. Our products are trusted 

by scientists worldwide for applications from gene 

expression analysis using qPCR to high-fidelity PCR, 

protein expression, and epigenetics. Move your 

research forward with PrimeSTAR ® GXL and Max 

polymerases, TaKaRa Ex Taq ® and LA Taq ® , and 

PrimeScript RTase. 

■ Cold Spring Harbor Laboratory Press ......1209 

Tel: 516-422-4005 

Email: mazzullo@cshl.edu 

URL: http://www.cshlpress.org 

Cold Spring Harbor Laboratory continues to shape 

contemporary biomedical research and education 

with programs in cancer, neuroscience, plant biology, 

and quantitative biology. Its Meetings & Courses 

program hosts more than 8,000 international 

scientists each year and its Press publishes books, 

journals, and electronic media for scientists, students, 

and the general public. 

EXHIBITORS


■ Complete Genomics, Inc. ......................... 907 

Tel: 650-943-2800 

Email: events@completegenomics.com 

URL: http://www.completegenomics.com 

Through its pioneering sequencing-as-a-service 

model, Complete Genomics provides researchers and 

clinicians the most accurate whole human genomes. 

The ease of use and power of Complete’s advanced 

informatics and analysis provide genomic information 

needed to understand, prevent, diagnose and treat 

diseases. 

■ Connective Tissue Gene Tests ................ 718 

Tel: 484-244-2900 

Email: inquiries@ctgt.net 

URL: http://www.ctgt.net 

CTGT is committed to providing the broadest 

range of molecular diagnostic tests for inherited 

connective tissue disorders — about 200 tests 

and still growing. CTGT has high test sensitivity, 

fast turnaround time, expert advice and superior 

customer service. 

■ Coriell Institute for Medical Research ........312 

Tel: 856-966-7377/800-752-3805 

Email: ccr@coriell.org 

URL: http://ccr.coriell.org 

Coriell Institute for Medical Research is an 

independent, non-profit biomedical research center. 

Founded in 1953, Coriell is one of the world’s 

leading biobanks, distributing biospecimens and 

offering custom research and biobanking services 

to scientists. Coriell examines the utility of genetic 

information in personalized medicine through its 

CPMC research study. 

■ Covaris Inc. .............................................. 1008 

Tel: 781-932-3959 

Email: info@covarisinc.com 

URL: http://www.covarisinc.com 

Covaris provides advanced sample preparation 

systems for life and analytical science. Covaris 

sample prep technologies support a wide variety of 

applications including NGS, ChIP, and proteomics. 

Our patented Adaptive Focused Acoustic (AFA) 

technology is the industry standard for DNA shearing 

and is used by major genome centers and academic 

institutions worldwide. 



■ Cytocell Ltd/Rainbow Scientific, Inc. ..........404 

Tel: 860-298-8382/888-831-4247 

Email: info@rainbowscientific.com 

URL: http://www.rainbowscientific.com 

Cytocell celebrates its 20th year as a leading provider 

of innovative DNA screening solutions for the accurate 

detection of human genetic diseases. Cytocell 

manufactures complete ranges of DNA FISH probes for 

use in clinical cytogenetics. Please review our updated 

list of FISH probes for hematological malignancies 

including our new full line of OncoSight Solid Tumor 

FISH probes. Check out www.myprobes.com regarding 

their custom FISH probe-making services. 

■ Cytonet LLC............................................. 1301 

Tel: 919-354-1930 

Email: joel.hare@cytonetllc.com 

URL: http://www.cytonetllc.com 

Cytonet is a biotechnology company with sites in 

Germany and Durham, NC USA. Cytonet develops cellbased 

products for liver diseases. Liver cells from nontransplantable 

livers are recovered and subsequently 

transplanted into children with genetic disorders in 

approved Phase-II clinical studies. Donated livers are 

provided by 50+; US-OPO and Tissue Banks. 

■ Data Unlimited International, Inc........... 1503 

Tel: 240-631-7933 

Email: contact@duii.com 

URL: http://www.duii.com 

Starfruit Technologies is Laboratory Information 

Management System (LIMS) & QA software/ 

database/computer/barcode for genetic and 

immunology labs enables sample, patient, 

biorepository, billing databases; mutation, variant, 

disease, genotype databases, SNP databank; 

instrument interface, barcode, QA/QC; worksheet, 

workflow, inventory, protocol, image; epidemiological 

frequency, trend, geographical distribution, disease/ 

disorder susceptibility, reporting; 21CFR11, CAP, 

CLIA, HIPPA, PHI. 

■ Diagenode Inc ........................................... 406 

Tel: 862-209-4680 

Email: custsupport.na@diagenode.com 

URL: http://www.diagenode.com 

Diagenode is an international life science company 

that develops and commercializes innovative 

instruments, reagents and systems for life science 

research. Our goal is to develop cutting-edge 

products that advance research in the rapidly 

evolving field of epigenetics. We specialize in offering 

a broad range of chromatin immunoprecipitation and 

DNA methylation products.

■ DNA Genotek ............................................. 900 

Tel: 613-723-5757/1-866-813-6354 

Email: info@dnagenotek.com 

URL: http://www.dnagenotek.com 

DNA Genotek is focused on providing high-quality 

biological sample collection, stabilization and 

preparation products for genetic-based applications 

including molecular diagnostics and research of both 

host and microbial DNA or RNA in oral samples. 

The company’s Oragene product line provides 

reliability and ease-of-use which has resulted in rapid 

worldwide adoption by top tier health institutions. 

■ DNAnexus, Inc. .......................................... 507 

Tel: 650-209-0362 

Email: info@dnanexus.com 

URL: http://dnanexus.com 

DNAnexus is a pioneering, collaborative tool for 

the analysis, visualization, and management of 

genomic data. DNAnexus’ foundation is a scalable, 

cloud-based platform that is fostering an expanding 

ecosystem of application developers and researchers 

that enables faster data delivery and accelerates the 

interpretation of genomic data in research and clinical 

applications. 

■ DNASTAR, Inc............................................ 801 

Tel: 608-258-7420/866-511-5090 

Email: info@dnastar.com 

URL: http://www.dnastar.com 

DNASTAR has pioneered development of desktop 

computer sequence assembly and analysis software 

to increase life scientists’ productivity for over 

25 years. DNASTAR’s products include Lasergene 

software for traditional sequence analysis and several 

other integrated tools for next-generation DNA and 

RNA sequence assembly and analysis and protein 

sequence and structure visualization. 

■ EdgeBio ................................................... 1506 

Tel: 301-990-2685/800-326-2685 

Email: info@edgebio.com 

URL: http://www.edgebio.com 

EdgeBio offers next-generation sequencing services. 

From experimental design to bioinformatics, EdgeBio 

is the perfect solution for all your sequencing needs. 

EdgeBio also sells kits for sequencing reaction 

cleanup, PCR purification, and plasmid purification, 

as well as competent cells. 




■ Elsevier .................................................... 1210 

Tel: 212-989-5800/888-437-4636 

Email: usinfo-f@elsevier.com 

URL: http://www.elsevier.com 

Explore Elsevier’s high impact genetics journals 

and books. Learn the latest in research news 

from journals such as The American Journal of 

Human Genetics. Our exciting books on display 

include Our Genes, Our Choices, Genomic and 

Personalized Medicine and many more. Discover 

our electronic research and solution tools via 

SciVerse ScienceDirect. 

■ Embi Tec .................................................. 1406 

Tel: 858-684-3190/800-255-1777 

Email: inquiry@embitec.com 

URL: http://www.embitec.com 

Embi Tec manufactures and distributes innovative, 

cost and space effective lab equipment such as the 

RunOne Electrophoresis System, MultiCaster 

Systems, ViewOne LabLite (miniature white light 

box), LightOne Illuminators for setting up and 

cherry-picking 96- or 384-well plates, PrepOne 

Sapphire (non-UV, blue light box), PrepOne 

ImageCatcher and AnyBlood Direct PCR buffers. 

■ EMC Isilon ............................................... 1320 

Tel: 206-315-7500 

Email: info@isilon.com 

URL: http://www.emc.com/isilon 

EMC© Isilon is the global leader in scale-out 

storage. We deliver powerful yet simple solutions 

for enterprises that want to manage their data, not 

their storage. Isilon’s products are simple to install, 

manage and scale, at any size. 

■ Emory Genetics Laboratory ..................... 211 

Tel: 404-778-8499/855-831-7447 

Email: dkauke@emory.edu 

URL: http://www.geneticslab.emory.edu 

Emory Genetics Laboratory (EGL) is a worldwide 

leader in rare disease clinical genetic testing. 

Associated with Emory University’s prestigious 

Department of Human Genetics in its School of 

Medicine, EGL’s biochemical, cytogenetic, and 

molecular laboratories perform integrated and 

comprehensive testing including whole exome 

sequencing, prenatal microarrays and inherited 

metabolic disorder testing. 

EXHIBITORS


■ Enlis Genomics ......................................... 203 

Tel: 510-413-8305 

Email: contact@enlis.com 

URL: http://www.enlis.com 

Overall Winner of the 2011 Illumina Data 

Excellence Award! Genome analysis made simple. 

Our Genome Research software is the easiest way to 

analyze tens or even hundreds of human genomes - 

all on a standard desktop or laptop computer. Sign 

up for a free trial today. 

■ Epicentre (an Illumina company) ........... 1218 

Tel: 608-258-3080/800-284-8474 

Email: techhelp@epicentre.com 

URL: http://www.epicentre.com 

Epicentre (an Illumina company) offers innovative, 

time-saving kits for gene expression studies. 

Featured are the ScriptSeq and TotalScript kits 

for rRNA-free RNA-Seq library sample prep in 1 

day from any RNA sample. Kits for genomic DNA 

purification and microarray target labeling will also be 

highlighted. 

■ EpigenDx ................................................... 721 

Tel: 508-497-9400/800-941-6884 

Email: info@epigendx.com 

URL: http://epigendx.com 

EpigenDx is a genomic and epigenomic research 

company that specializes in disease biomarker 

discovery and molecular diagnosis. The company 

provides the products and services for DNA 

methylation analysis and quantitative mutation 

analysis. EpigenDx also provides products and 

laboratory services for scientific researchers from 

academic, government and industrial communities. 

■ Epigentek Group Inc ............................... 1127 

Tel: 877-374-4368 

Email: info@epigentek.com 

URL: http://www.epigentek.com 

Epigentek is the leading provider of epigenetic assay 

kits, antibodies, reagents, and services through a 

complete and systematic approach. It is the first 

and only company to specialize exclusively in 

epigenetics and has pioneered the commercialization 

of many technologies commonly used today in DNA 

methylation, histone modification, and chromatin 

studies. 



■ European Human Genetics 

Conference 2013 .......................................... 219 

Tel: 31 703838901 

Email: fvanlaer@rose-international.com 

URL: http://www.eshg.org/eshg2013 

The European Human Genetics Conference 2013 

will be held in Paris, France, from 8-11 June 2013. 

Please visit our booth for more information and ESHG 

membership application. To view the conference 

program, details on abstract submission and for 

online registration for the conference: www.eshg.org/ 

eshg2013 

■ Exiqon ...................................................... 1712 

Tel: 781-376-4150/888-647-2879 

Email: lac@exiqon.com 

URL: http://www.exiqon.com 

Exiqon is a leading supplier of microRNA research 

tools based on our proprietary LNA technology. 

Researchers around the world are using our 

products to make groundbreaking discoveries 

about the correlation between gene activity and the 

development of cancer and other diseases. Exiqon 

Services offers expertise in microRNA profiling and 

biomarker discovery from clinical samples. 

■ Expression Analysis .................................. 508 

Tel: 919-405-2248/866-293-6094 

Email: kmichailo@expressionanalysis.com 

URL: http://www.expressionanalysis.com 

EA provides cutting-edge genomic sequencing, gene 

expression, genotyping, and bioinformatics services 

to global pharmaceutical companies, diagnostic test 

developers, government agencies, and academic 

labs. EA conducts every project under clinicalgrade 

quality control and offers the bioinformatics 

expertise and computational infrastructure to process 

enormous volumes of genomic data with consistency 

and speed. 

■ FASEB ...................................................... 1700 

Tel: 301-634-7288 

Email: khicks@faseb.org 

URL: http://www.faseb.org 

Celebrating its Centennial, 100 Years of Advancing 

the Life Sciences, FASEB is recognized as the 

policy voice of biomedical researchers, representing 

26 scientific societies (over 100,000 members); the 

nations largest coalition of biomedical researchers. 

Products/services include: The FASEB Journal, 

Science Research Conferences, MARC travel awards, 

and Society Management Services.

■ Fluidigm Corporation ............................... 725 

Tel: 650-266-6000/866-358-4354 

Email: Marketing@fluidigm.com 

URL: http://www.fluidigm.com 

Fluidigm develops and manufactures innovative 

microfluidics solutions for life science systems. These 

solutions consist of its integrated fluidic circuit (IFC) 

technology, with instruments that simplify workflow 

and improve accuracy for genomics research 

applications, including single-cell gene expression, 

high-throughput SNP genotyping and next-generation 

sequencing. 

■ Geisinger Health System .......................... 821 

Tel: 570-214-9725/800-845-7112 

Email: jheid1@geisinger.edu 

URL: http://Join-Geisinger.org 

Geisinger Health System serves nearly 3 million 

people in Pennsylvania through a network of 

4 hospitals, 38 community practice sites and over 900 

Geisinger physicians. Geisinger has an institutional 

commitment to research and a focus on personalized 

medicine, and has been nationally recognized for 

research, innovative practices and quality care. 

■ Gene Codes Corporation ...................... 1310 

Tel: 734-769-7249/800-497-4939 

Email: info@genecodes.com 

URL: http://www.genecodes.com 

Gene Codes Corporation develops Sequencher, 

DNA sequence analysis software for traditional 

and next-generation DNA data sets. Geneticists 

around the world rely on Sequencher’s intuitive user 

interface, speedy alignment algorithms, and powerful 

SNP discovery tools to guide them towards results. 

Stop by to see our latest release of Sequencher. 

■ GeneDx .................................................... 1119 

Tel: 301-519-2100/800-229-5227 

Email: genedx@genedx.com 

URL: http://www.genedx.com 

GeneDx tests for more than 350 rare Mendelian 

disorders using DNA sequencing and deletion/ 

duplication analysis of the associated gene(s), and 

offers oligonucleotide microarray-based testing 

and next-generation sequencing-based panels for 

inherited cardiac disorders, mitochondrial disorders, 

and neurodevelopmental disorders. GeneDx offers 

MFM and Ob-Gyn diagnostics including prenatal/ 

maternal risk assessment, and carrier testing. 




■ GeneInsight ............................................. 1224 

Tel: 617-954-9738 

Email: mband@partners.org 

URL: http://www.geneinsight.com 

GeneInsight Suite is an IT platform, developed at 

Partners HealthCare, to streamline the analysis, 

interpretation and reporting of genetic test results 

and facilitate delivery of test results to treating 

clinicians. The application consists of a laboratory 

knowledge management application, a clinician 

access application and a network infrastructure that 

enhances communication. 

■ Gene Link, Inc ........................................... 627 

Tel: 914-769-1192/800-436-3546 

Email: support@genelink.com 

URL: http://www.genelink.com 

Gene Link is a leading supplier of premium custom 

complex modified oligonucleotides, siRNA, RNA, 

fluorescent probes and other molecular biology 

products. Gene Detection System product lines for 

triple repeat disorders e.g. Fragile X, Huntington s 

disease, Myotonic Dystrophy, FRDA and FRAXE. Gene 

Link services include custom probe and siRNA design. 

■ GeneTests ................................................ 1413 

Tel: 206-221-4674 

Email: newgr@u.washington.edu 

URL: http://www.genetests.org 

GeneTests (www.genetests.org) provides medical 

genetics information for physicians, clinicians and 

researchers pertaining to diagnosis, management, 

and genetic counseling for heritable disorders 

through the expert-authored, peer-reviewed 

publication GeneReviews, an international genetic 

testing Laboratory Directory and Clinic Directory, and 

educational materials. Funded by contract from NIH, 

sponsored by University of Washington, Seattle. 

■ Genetic Engineering & Biotechnology 

News ........................................................... 1500 

Tel: 914-740-2200 

Email: smccarthy@bioconferences.com 

URL: http://www.genengnews.com 

Genetic Engineering & Biotechnology News (GEN) is 

the longest-running, most widely read, and largest 

circulated global biotechnology news publication. 

Published 21 times a year and recently redesigned 

to focus on Biobusiness, OMICS, Drug Discovery, 

Bioprocessing, and Translational Medicine, GEN 

reports on key news developments and technology 

trends in the bioindustry. 

EXHIBITORS


■ Genetics Society of America/G3 - Genes, 

Genomes, Genetics ..................................... 227 

Tel: 301-634-7300/866-486-GENE 

Email: society@genetics-gsa.org 

URL: http://www.genetics-gsa.org | http://www. 

g3journal.org 

The Genetics Society of America is a scientific 

membership society of 5,000 researchers and 

educators. GSA established the open-access peerreviewed 

journal G3: GENES|GENOMES|GENETICS as 

a forum for the publication of high-quality foundational 

research, including articles on useful genetic and 

genomic information and datasets in human genetics. 

■ Gene Tools, LLC ...................................... 1401 

Tel: 541-929-7840 

Email: custsupport@gene-tools.com 

URL: http://www.gene-tools.com 

Gene Tools manufactures Morpholino oligos for 

blocking translation, modifying splicing or inhibiting 

miRNA activity. Morpholinos are used in cell cultures, 

embryos or, as Vivo-Morpholinos, in adult animals. 

Morpholinos are effective, specific, stable and nontoxic. 

Backed by PhD-level customer support, Gene 

Tools designs and synthesizes Morpholinos and 

offers cytosolic delivery options. 

■ Genformatic ............................................. 1420 

Tel: 512-565-4693 

Email: info@genformatic.com 

URL: http://www.genformatic.com 

Genformatic provides comprehensive genome 

sequence analysis services, including optimized 

sequence alignment and variant identification, variant 

annotation and interpretation of phenotypic implications, 

and production of a prioritized list of probable variant 

impacts upon health. Genformatic can process one 

genome or hundreds of genomes in parallel for research 

investigations or clinical applications. 

■ Genial Genetic Solutions/Rainbow 

Scientific, Inc. .............................................. 402 

Tel: 860-298-8382/888-831-4247 

Email: info@rainbowscientific.com 

URL: http://www.rainbowscientific.com 

Genial Genetic Solutions offers the robotic MultiPrep 

Genie and Cell Sprint Harvesting systems for both 

surface culture and suspension culture harvesting. 

Our ProCell cytogenetic reagents yield high quality 

cytogenetic preparations. Our suite of genetic 

database software products including Shire, iGene 

and iPassport QMS, offer integrated multi-discipline 

genetic patient management with excellent auditing 

and document/process control capabilities. 



■ GenoLogics ............................................. 1105 

Tel: 250-483-7011/866-457-5467 

Email: info@genologics.com 

URL: http://www.genologics.com 

GenoLogics is a leading provider of LIMS software 

specifically designed for next-generation omics 

labs. The GenoLogics LIMS delivers end-to-end 

management of genomics laboratory samples, tests 

and results. GenoLogics is uniquely qualified to 

meet information management needs of the nextgeneration 

laboratory by delivering a LIMS that is 

scalable, adaptable and useable. 

■ Genomatix Software ................................. 425 

Tel: 734-205-5990/877-436-6628 

Email: grant@genomatix.com 

URL: http://www.genomatix.com 

Genomatix is a computational biology company 

known for its excellence in science. We have 

accumulated extensive data content and developed 

multiple software applications for understanding 

gene regulation for 15+ years. Leveraging this 

history of excellence in systems biology, Genomatix 

now provides a comprehensive, integrated analysis 

solution for all NGS applications. 

■ Genzyme, a Sanofi Company ................... 901 

Tel: 617-768-6512 

Email: lena.ortins@genzyme.com 

URL: http://www.genzyme.com 

Genzyme has pioneered the development and 

delivery of transformative therapies for patients 

affected by rare and debilitating diseases for over 

30 years. With a focus on rare diseases and multiple 

sclerosis, we are dedicated to making a positive 

impact on the lives of the patients and families we 

serve. Visit www.genzyme.com. 

■ GnuBIO, Inc. .............................................. 521 

Tel: 617-446-6744 

Email: info@gnubio.com 

URL: http://www.gnubio.com 

GnuBIO is a pioneer in the field of scalable DNA 

sequencing technology. The GnuBIO technology is 

an emulsion-based microfluidic technology. GnuBIO’s 

platform seamlessly incorporates all DNA sequencing 

functions into one single system (including DNA 

enrichment, amplification and sequencing), with 

a single user interface producing results in hours 

versus days.

■ Golden Helix, Inc. ...................................... 818 

Tel: 406-585-8137 

Email: info@goldenhelix.com 

URL: http://www.goldenhelix.com 

Golden Helix helps genetic research groups working 

with large-scale DNA-sequencing or microarray 

data overcome the frustration and challenges of 

bioinformatic roadblocks. By empowering researchers 

with highly effective software tools, world-class 

support, and complementary analytic services, we 

refute the notion that analysis has to be difficult or 

time consuming. 

■ Greenwood Genetic Center ................... 1027 

Tel: 864-941-8110/800-473-9411 

URL: http://www.ggc.org 

The Greenwood Genetic Center is a nonprofit institute 

organized to provide clinical genetic services, 

diagnostic laboratory testing, educational resources, 

and research in the field of medical genetics. 

Our laboratory offers biochemical, cytogenetic, 

and molecular diagnostic testing. We strive to 

Give Greater Care by combining state-of-the-art 

diagnostics with exceptional service. 

■ Hamilton Company ................................. 1613 

Tel: 775-858-3000/800-648-5950 

Email: kcavallaro@hamiltoncompany.com 

URL: http://www.hamiltonrobotics.com 

Hamilton Robotics is dedicated to the design 

and manufacture of automated liquid handling 

workstations. Key to our products is our air 

displacement pipetting and monitoring technology 

and software controlling our systems. Our 

workstations and software serve as a common high 

precision and flexible base upon which to provide 

automated solutions. 

■ Hitachi Solutions America Ltd. .............. 1502 

Tel: 650-615-7600 

Email: rlynde@miraibio.com 

Hitachi Solutions and Hitachi High 

Technologies have partnered to leverage 

breakthrough technologies to create the secure 

infrastructure needed to allow validated genomic 

data and related phenotypic data to be combined. 

This new platform will give users the ability to 

mine and view data in novel ways to make new 

discoveries. 




■ Human Variome Project Intl. Ltd ............. 221 

Tel: 61 3 8344-1831 

Email: rania@variome.org 

URL: http://www.humanvariomeproject.org 

The Human Variome Project is an international 

consortium of individuals who are working towards 

reducing the burden of genetic disease. The aim 

of the Human Variome Project is to ensure that all 

information on genetic variation can be collected, 

curated, interpreted and shared freely and openly 

with the world. 

■ Illumina, Inc. ............................................ 1109 

Tel: 858-202-4500/800-809-4566 

Email: info@illumina.com 

URL: http://www.illumina.com 

Illumina ® provides innovative sequencing and 

array-based solutions for genotyping, copy number 

variation analysis, methylation studies, gene 

expression profiling, and low-multiplex analysis of 

DNA, RNA, and protein. We also provide tools and 

services that are fueling advances in consumer 

genomics and diagnostics, paving the way for 

molecular medicine and ultimately transforming 

healthcare. 

■ Incom, Inc. ............................................... 1300 

Tel: 508-909-2200 

Email: dar@incomusa.com 

URL: http://www.incomusa.com 

Incom is a manufacturer of glass and polymer fused 

fiber optic faceplates and tapers, as well as polymer 

and glass micro structures. We have participated 

in the development of microwell arrays for genome 

sequencing, large-area faceplates and tapers for 

X-ray applications, and microcapillary arrays for TOF 

and neutron detection. 

■ Ingenuity Systems, Inc. .......................... 1101 

Tel: 650-381-5100 

Email: hbullock@ingenuity.com 

URL: http://www.ingenuity.com 

Ingenuity Systems enables researchers to model, 

analyze and understand complex biological systems 

foundational to human health and disease. Products 

leverage the Ingenuity Knowledge Base and include 

IPA, Ingenuity iReport, Ingenuity Variant Analysis, 

Ingenuity Analysis Services, and content and custom 

services for pharmaceutical, biotech and academic 

organizations. Learn more at www.ingenuity.com. 

EXHIBITORS


■ Innopsys .................................................... 805 

Tel: 312-925-8210 

Email: contact@innopsys.com 

URL: http://www.innopsys.com 

Offering the InnoScan 900 and InnoScan 900 

fluorescence microarray scanners with optional 

autoloaders, Innopsys empowers users with the 

fastest reading times and highest resolution on 

the market. Innoscan scanners use Mapix, Innopsys 

proprietary image acquisition and analysis software, 

giving customers a user-friendly interface and the 

fastest spot-finding on the market. 

■ IntegenX Inc. ........................................... 1311 

Tel: 925-701-3400 

Email: information@integenX.com 

URL: http://www.integenX.com 

IntegenX Inc. produces automated sample processing 

systems and reagent kits for the life sciences and 

applied sciences markets. Our Apollo 324 System 

automates next-generation library preparation for all 

major NGS platforms. GenTegra reagents enable 

ambient temperature storage of RNA and DNA. 

Our products dramatically reduce process time and 

expense. www.integenx.com 

■ Integrated DNA Technologies, Inc. ......... 301 

Tel: 319-626-8400/800-328-2661 

Email: custcare@idtdna.com 

URL: http://www.idtdna.com 

Integrated DNA Technologies (IDT) is a leader in 

custom biology for the research and diagnostic 

life science market and serves academic research, 

biotechnology, and pharmaceutical development. 

Products include DNA oligos, qPCR assays, and 

custom gene synthesis to support many applications 

such as DNA sequencing, SNP detection, and 

functional genomics. 

■ Integrated Genetics/LabCorp .................. 606 

Tel: 336-222-7566/800-222-7566 

Email: Anders@labcorp.com 

URL: http://www.labcorp.com 

Integrated Genetics is a leading provider of 

reproductive genetic testing services driven by its 

commitment to physicians and their patients. With an 

expansive menu of complex tests and technologies, 

Integrated Genetics spans the continuum of care 

from prenatal diagnostics to the largest commercial 

genetic counseling network in the laboratory industry. 

www.integratedgenetics.com. 



■ Interactive Biosoftware ............................ 413 

Tel: 33278770405 

Email: contact@interactive-biosoftware.com 

URL: http://www.interactive-biosoftware.com 

Interactive Biosoftware is the creator of Alamut, 

the original mutation interpretation software used 

by leading genetic scientists around the world. 

Interactive Biosoftware is changing genetic 

diagnostics and research by simplifying the mutation 

interpretation process, while saving scientists 

time, improving outcome quality and enhancing 

productivity. 

■ Ion Torrent ................................................. 100 

Tel: 650-243-6000 

Email: sales@iontorrent.com 

URL: http://www.iontorrent.com 

Life Technologies Corporation (NASDAQ: LIFE) 

is a global biotechnology company dedicated to 

moving science forward to improve life in meaningful 

ways for everyone. Our premier brands are the most 

cited, most trusted in the life sciences industry: 

Invitrogen, Applied Biosystems ® , Gibco ® , Molecular 

Probes ® , Novex ® , TaqMan ® , Ambion ® , and Ion 

Torrent. 

■ Irvine Scientific.......................................... 620 

Tel: 949-261-7800/800-437-5706 

Email: amcgrath@irvinesci.com 

URL: http://www.irvinesci.com 

Irvine Scientific is a leader in the design, 

manufacture and distribution of cell culture media 

and medical devices. Our goal is to develop 

and provide unsurpassed products and services 

for customers in biopharmaceutical, human 

reproductive, regenerative medicine, cytogenetics 

and research settings. We support a diverse cross 

section of the medical industry, from large scale 

industrial bioprocessing to IVF clinics and research 

in medically oriented areas. 

■ JAMA Network ........................................ 1201 

Tel: 312-464-5000 

Email: millette.jackson-bates@ama-assn.org 

URL: http://www.amapublications.org 

The JAMA Network is a consortium of peer-reviewed 

print and online medical publications, published by 

the AMA Publishing Group, that includes JAMA and 9 

specialty Archives Journals.

■ JMG (BMJ Group) ................................... 1103 

Tel: 44 (0)20 7387 4410 

Email: reponse.jmg@bmjgroup.com 

URL: http://jmg.bmj.com 

Journal of Medical Genetics (JMG) is a leading 

international peer reviewed journal covering original 

research in human genetics, including reviews of and 

opinion on the latest developments. Published monthly, 

each edition includes original articles, short reports, 

review articles, hypothesis articles, book reviews, online 

mutation reports and e-letters. Visit jmg.bmj.com to 

find out more. 

■ JSI medical systems GmbH ................... 1023 

Tel: 0049-7825-863620-0 

Email: mail@JSI-medisys.com 

URL: http://www.JSI-medisys.com 

JSI medical systems with U.S. office in CA is 

located in the Black Forest area at southwest 

Germany. Our software Sequence Pilot is the 

leading premium product for analysis of next- 

generation sequencing, conventional sequencing, 

HLA SBT, HLA 454, MLPA and Affymetrix chip 

resequencing data. For detailed information see 

www.jsi-medisys.com 

■ Kailos Genetics, Inc. ................................. 310 

Tel: 256-327-9800/866-833-6865 

Email: mike@kailosgenetics.com 

URL: http://www.kailosgenetics.com 

TargetRich sets new expectations in targeted 

enrichment. A single-tube workflow - from start to 

finish - provides a fast, easy and scalable enrichment. 

Whether a custom solution, or fixed panel, our 

proprietary technology offers the specificity, high 

alignment and uniformity for efficient next-generation 

sequencing with just 10ng of starting material. 

■ Kapa Biosystems Inc .............................. 1512 

Tel: 781-497-2933/855-527-2246 

Email: fritz.tiedt@kapabiosystems.com URL: 

http://www.kapabiosystems.com 

Kapa Biosystems offers a portfolio of best-in-class 

PCR reagents engineered using our high-throughput 

molecular evolution platform. The novel DNA 

polymerases contained within our kits confer 

dramatic improvements to performance that enable 

results and applications not possible with wild-type 

enzymes. Next-generation PCR is defined as the shift 

from generalist wild-type enzymes toward designer 

specialist enzymes. 




■ Karger Publishers ................................... 1208 

Tel: 860-675-7834/800-828-5479 

Email: karger.susan@snet.net 

URL: http://www.karger.com 

Karger is pleased to announce the publication of 

An International System for Human Cytogenetic 

Nomenclature (2013). Other titles include the book 

series Genome Dynamics and Monographs in 

Human Genetics; and the journals Cytogenetic and 

Genome Research, Journal of Nutrigenetics and 

Nutrigenomics, Molecular Syndromology, Public 

Health Genomics, and Sexual Development. 

■ Knome, Inc. ............................................. 1007 

Tel: 617-715-1000 

Email: aryan@knome.com 

URL: http://www.knome.com 

Knome is a leading provider of human genome 

interpretation software and services. Medical and 

research institutions use our innovative solutions 

to identify the genetic basis of disease, tumor 

growth, and drug response. Designed to accelerate 

the discovery process, Knome’s technologies are 

helping to pave the transition to molecular-based, 

personalized medicine. 

■ Kreatech Inc. ............................................. 811 

Tel: 919-407-8347/866-572-1432 

Email: na-customerservice@kreatech.com 

URL: http://www.kreatech.com 

Kreatech, Inc. offers POSEIDON FISH probes 

with REPEAT-FREE technology. Kreatech has an 

extensive portfolio of FISH probes and custom design 

capability. Kreatech’s labeling technology, ULS - the 

Universal Linkage System, allows non-enzymatic, 

accurate and fast labeling of DNA, RNA and proteins; 

one universal labeling system compatible with all 

biological samples. 

■ Labcyte Inc. ............................................. 1402 

Tel: 408-747-2000/1-877-742-6548 

Email: info@labcyte.com 

URL: http://www.labcyte.com 

Labcyte is revolutionizing life science with the 

Echo ® liquid handler which uses acoustic energy to 

transfer liquids. This touchless technology provides 

dramatically better results by eliminating pipette tips 

and their associated problems, while saving hundreds 

of thousands of dollars annually in decreased 

consumables. Labcyte technologies have broad 

application in many fields. 

EXHIBITORS


■ Laboratory for Molecular Medicine, 

PCPGM ....................................................... 1225 

Tel: 617-768-8500 

Email: lmm@partners.org 

URL: http://pcpgm.partners.org/LMM/ 

The Harvard-affiliated Laboratory for Molecular 

Medicine, a CLIA-certified molecular diagnostic 

laboratory within the Partners Healthcare Center 

for Personalized Genetic Medicine, bridges the gap 

between research and medicine by translating genetic 

discoveries into clinical testing, including expanding 

current disease areas and developing new content for 

clinical use on next-generation technologies. 

■ Leica Microsystems Corp ........................ 824 

Tel: 800-248-0123/800-248-0123 

Email: info@leica-microsystems.com 

URL: http://www.leica-microsystems.com 

■ LGC Genomics/Kbioscience .................. 1125 

Tel: 978-232-9430 

Email: bonnie.alvarado@lgcgenomics.com 

URL: http://www.kbioscience.co.uk/ 

|http://www.lgc.co.uk/divisions/lgc_genomi 

LGC Genomics, now incorporating KBioscience, 

offers a powerful array of products and services for 

nucleic acid extraction, genotyping, and sequencing. 

Our novel PCR-based KASP genotyping chemistry 

offers superb data quality, maximum flexibility, 

and tremendous cost savings versus competing 

technologies. Please visit our booth to learn more! 

■ Life Technologies ...................................... 601 

Tel: 760-603-7200 

URL: http://www.lifetechnologies.com 

Life Technologies Corporation (NASDAQ: LIFE) is a 

global biotechnology company dedicated to moving 

science forward to improve life in meaningful ways 

for everyone. Our premier brands are the most cited, 

most trusted in the life sciences industry: Invitrogen, 

Applied Biosystems, Gibco, Molecular Probes, 

Novex, TaqMan, Ambion, and Ion Torrent. 

■ McGraw-Hill............................................. 1521 

Tel: 877-840-2297 

Email: digitalsales@mhedu.com 

URL: http://www.ommbid.com 

As one of the world’s premier medical publishers, 

McGraw Hill provides geneticists, researchers, 

educators, and students with access to OMMBID, 

the unparalleled online resource for genetic 

contribution to health and disease, as well as 

information for the broader medical world. 

Visit: www.ommbid.com, www.accessmedicine.com, 

and www.accesspediatrics.com to learn more. 



■ MetaSystems .......................................... 1303 

Tel: 617-924-9950/888-489-9959 

Email: hwhitney@metasystems.org 

URL: http://www.metasystems.org 

MetaSystems provides fast, easy-to-use genetic 

imaging and high-throughput slide scanning systems: 

ikaros for automatic karyotyping, isis for FISH 

imaging, CGH, mFISH, high resolution color and 

banding analysis, metafer for fully automatic slide 

analysis, spot counting, rare cell detection, metaphase 

search, array analysis, XCyte DNA probes. Please 

visit our website www.metasystems.org 

■ Microsonic Systems Inc. .......................... 618 

Tel: 408-844-4980 

Email: sales@microsonics.com 

URL: http://www.microsonics.com 

Microsonic Systems Inc. develops acoustics-based 

instruments for a broad base of life science sample 

prep applications. The high-throughput Microsonics 

ST300 system with patented ultrasonic technology 

provides high quality fragments for NGS; parallel 

sample processing and automation maximizes walkaway 

time with upgrade path to meet growing needs. 

Learn more at www.microsonics.com. 

■ MRC-Holland ........................................... 1122 

Tel: 31 20 489 1248 

Email: info@mlpa.com 

URL: http://www.mlpa.com 

MRC-Holland is the company that produces and 

develops SALSA MLPA probemixes that can be 

used for the analysis of copy number changes and 

methylation status of genomic sequences in a wide 

variety of inherited diseases as well as in tumors. 

■ Myriad Genetic Laboratories ................. 1501 

Tel: 801-505-5192/800-469-7423 

Email: sphillip@myriad.com 

URL: http://www.myriadpro.com 

Myriad Genetics is a leading molecular diagnostic 

company dedicated to making a difference in patients 

lives through the discovery and commercialization 

of transformative tests to assess a persons risk of 

developing disease, guide treatment decisions and 

assess risk of disease progression and recurrence. 

■ NanoString Technologies, Inc. ................. 210 

Tel: 206-378-6266/888-358-6266 

Email: info@nanostring.com 

URL: http://www.nanostring.com 

NanoString Technologies is a privately held life 

sciences company marketing a complete solution for 

detecting and counting large sets of target molecules 

in biological samples.

■ Natera ........................................................ 504 

Tel: 650-249-9090 ext 357 

Email: ksong@natera.com 

URL: http://www.natera.com 

Natera provides reproductive genetic tests using 

bioinformatics in combination with sequencing 

technologies. Tests include preimplantation genetic 

diagnosis (PGD) for IVF, rapid turnaround molecular 

karyotyping of products of conception, non-invasive 

prenatal paternity testing, and non-invasive prenatal 

testing. 

■ National Center for Biotechnology 

Information ................................................... 224 

Tel: 301-496-2475 

Email: info@ncbi.nlm.nih.gov 

URL: http://www.ncbi.nlm.nih.gov 

NCBI provides integrated access to DNA and protein 

sequence data, associated mapping data, protein 

structures, and MEDLINE. Demonstrations of the 

GenBank database, the Entrez retrieval system, 

PubMed for MEDLINE searching, BLAST and VAST 

similarity searches for sequence and structures, and 

the BankIt and Sequin sequence submission software 

will be provided. 

■ National Human Genome Research 

Institute ........................................................ 825 

Tel: 301-402-0911 

Email: mccrimmono@mail.nih.gov 

URL: http://www.genome.gov 

The National Human Genome Research Institute 

(NHGRI) led the National Institutes of Health’s (NIH) 

contribution to the International Human Genome 

Project. The human genomed was succesfully 

sequenced in 2003. Now, the NHGRI’s mission has 

expanded to encompass a broad range of studies 

aimed at understanding the structure and function of 

the human genome and its role in health and disease. 

■ Nature Publishing Group .......................... 500 

Tel: 212-726-9200 

Email: institutions@us.nature.com 

URL: http://www.nature.com 

The NPG portfolio combines the excellence of 

Nature its associated research and review journals, 

and leading academic and society journals in the 

life, physical and clinical sciences. Open access 

options are offered through the academic and society 

journals, Nature Communications and through 

a new fully open access publication: Scientific 

Reports 




■ New England Biolabs, Inc. ....................... 904 

Tel: 978-380-7388 

Email: shnider@neb.com 

URL: http://www.neb.com 

NEB leads the industry in the discovery and 

production of enzymes for molecular biology 

applications including sample preparation for nextgeneration 

sequencing. NEB’s global reputation 

for manufacturing products of the highest quality 

coupled with best in class technical support makes 

NEB a first choice for customers demanding 

optimized reagents for advanced technologies. 

■ NextGxDx ................................................... 411 

Tel: 615-236-4569 

Email: kmcknight@nextgxdx.com 

URL: http://www.nextgxdx.com 

NextGxDx is a web-based genetic diagnostics 

platform, allowing hospitals and physicians to identify 

appropriate genetic tests and cross-reference 

multiple laboratories. Enabling physicians to research 

tests by patient symptoms, instantly compare 

tests across laboratories, and determine existing 

relationships, NextGxDx provides physicians with 

a single destination for discovering, comparing and 

ordering tests. 

■ Norgen Biotek Corp. ................................. 208 

Tel: 905-227-8848/1-866-667-4362 

Email: info@norgenbiotek.com 

URL: http://www.norgenbiotek.com 

Norgen is an innovative biotechnology company 

specializing in sample collection, preservation and 

preparation kits. We provide RNA, microRNA, DNA 

and protein isolation and clean-up kits based on a 

proprietary technology. Norgen also supplies the 

most extensive range of saliva and urine collection, 

concentration and isolation products available to 

meet a wide range of applications. 

■ NVIGEN .................................................... 1403 

Tel: 408-830-9988 

Email: info@nvigen.com 

URL: http://www.nvgien.com 

NVIGEN offers customizable nanoparticle services 

and prepackaged nanoparticle reagents for research 

and industry needs. Our bioentity-conjugated 

nanoparticles, with magnetic and optical properties, 

provide efficient performance for genomic purification 

& extraction, co-immunoprecipitation, molecular and 

cell separation, targeted delivery and imaging. Our IP 

holds tremendous potential for high-sensitivity, 

high-throughput platforms and partnerships alike. 

EXHIBITORS


■ NXT-Dx ..................................................... 1025 

Tel: 32 92650252 

Email: maarten.braspenning@nxt-dx.com 

URL: http://www.nxt-dx.com 

NXT-Dx is a privately owned epigenetics company, 

providing methylation and small RNA analysis 

services to epigenetics researchers worldwide. 

Our services include MBD-based genome-wide 

DNA methylation sequencing, bisulfite sequencing, 

miRNA and/or lncRNA expression profiling and RNA 

sequencing. We offer full-scope service from sample 

shipment, pre-processing, sequencing/RT-QPCR, 

bio-informatics to results visualization. 

■ Office of Rare Diseases Research (NIH) ..... 326 

Tel: 301-402-4336/888-205-2311 

Email: ordr@mail.nih.gov 

URL: http://rarediseases.info.nih.gov 

The Office of Rare Diseases Research (ORDR) 

supports and coordinates rare disease research, 

responds to research opportunities and provides 

information on rare diseases. ORDR serves the needs 

of patients who have any one of the thousands of rare 

diseases known today. ORDR coordinates and fosters 

relationships with patient advocacy groups to academic 

institutions as well as other NIH Institutes and Centers. 

■ Omixon Biocomputing .................................205 

Tel: 36 705748001 

Email: attila.berces@omixon.com, 

boglarka.fekete@omixon.com 

URL: http://www.omixon.com 

Omixon provides software for next-generation 

sequencing data analysis with its flagship product 

Omixon Target. Omixon Target was designed with 

the vision of assisting diagnostics laboratories to 

adapt NGS technologies. The underlying mapping, 

alignment and variant calling algorithms are intended 

to meet the high precision and analysis quality control 

requirements of diagnostics labs. 

■ OpGen, Inc ............................................... 1124 

Tel: 301-869-9683 

Email: jmacemon@opgen.com 

URL: http://www.opgen.com 

OpGen, Inc. provides whole genome analysis 

systems and services for sequence assembly, strain 

typing and comparative genomics applications. 

Genomics research and public health labs use 

OpGen’s technology to produce high-resolution, 

ordered, restriction maps from single DNA molecules 

that provide a comprehensive view of genomic 

architecture. Learn more at www.OpGen.com 



■ Otogenetics Corporation ......................... 827 

Tel: 855-686-4363/855-686-4363 

Email: sales@otogenetics.com 

Otogenetics Corporation based in suburb of 

Atlanta, GA specializes in offering high coverage 

sequencing for panels of disease genes or 

pathway-focused genes (e.g., whole exome of 

various species, deafness genes, cancer genes, 

cardiomyopathy genes, etc.) and apply NGS for 

RNA-Seq and profiling of epigenetic modifications 

of genomic DNA. 

■ Oxford Gene Technology .......................... 302 

Tel: 44 (0)1865 856800 

Email: contact@ogt.co.uk 

URL: http://www.ogt.co.uk 

OGTs CytoSure range of aCGH products provides 

the complete array solution for constitutional 

and cancer cytogenetics: from high resolution 

oligonucleotide arrays, including the ISCA designs 

and the new cancer +SNP combination array using 

OGTs proprietary SNP chemistry, to optimized 

labeling kits and cytogenetically focused analysis and 

interpretation software. 

■ Oxford Nanopore Technologies Ltd ........ 418 

Tel: 44 845 034 7900 

Email: info@nanoporetech.com 

URL: http://www.nanoporetech.com 

Oxford Nanopore Technologies is developing the 

electronic devices GridION and MinION for the direct 

analysis of single molecules including DNA, RNA/ 

miRNA and proteins. Please visit exhibition booth to 

find out more. www.nanoporetech.com 

■ Oxford University Press.......................... 1200 

Tel: 800-451-7556 

Email: custserv.us@oup.com 

URL: http://www.oup.com/us 

Oxford University Press publishes some of the most 

respected genetics books and journals in the world, 

including Human Molecular Genetics. Our booth will 

feature Common Malformations, by Lewis Holmes 

and Achieving Justice in Genomic Translation, edited 

by Burke, et al., and the rest of Oxford’s leading 

books in genetics.

■ Pacific Biosciences .................................. 610 

Tel: 650-521-8003 

Email: info@pacificbiosciences.com 

URL: http://www.pacificbiosciences.com/ 

The PacBio RS, a high resolution genetic analyzer, 

helps scientists solve genetically complex problems. 

Based on single-molecule, real-time (SMRT) 

technology, it enables: targeted sequencing to 

comprehensively characterize genetic variations; 

de novo genome assembly to identify, annotate 

and decipher genomic structures; and DNA base 

modification identification to help characterize 

epigenetic regulation. 

■ Palmyra Software.................................... 1519 

Tel: 510-423-3144 

Email: info@palmyrasoftware.com 

URL: http://www.palmyrasoftware.com 

Palmyra Software develops visual software to 

automate computational analysis of high-throughput 

data, focusing on NGS sequencing data. The 

software enables biologists and bioinformaticians 

alike to easily organize multiple analysis runs, 

from execution to results files. The software also 

encourages efficiency of computational resources, 

re-using workflows and tracing history of results. 

■ Partek Incorporated ............................... 1307 

Tel: 314-878-2329 

Email: tsilber@partek.com 

URL: http://www.partek.com 

Partek provides software for next-generation 

sequencing, microarray, and qPCR data analysis 

and visualization that empowers biologists to find 

biological meaning within their data. With an intuitive 

interface designed for researchers, Partek’s complete 

solution takes raw data to statistical and pathway 

analysis that allows true multi omics integration. 

■ PerkinElmer, Inc. Life Sciences & 

Technology ................................................. 1325 

Tel: 203-925-4602/800-762-4000 



PerkinElmer’s Life Sciences & Technology division 

offers a wide range of automation and detection 

solutions for genomics and cellular imaging, 

including state-of-the art microfluidics, lab 

automation and liquid handling systems for NGS 

supported by the Geospiza informatics platform. 

Visit us at booth 1325. 




■ Pfizer ........................................................ 1511 

Tel: 212-733-2323 

Email: sandra.kusek@pfizer.com 

URL: http://www.pfizer.com 

At Pfizer, we apply science and our global 

resources to improve health and well-being at 

every stage of life. Every day, Pfizer colleagues 

work across developed and emerging markets 

to advance wellness, prevention, treatments and 

cures that challenge the most feared diseases of 

our time. 

■ Phalanx Biotech Group ............................ 307 

Tel: 650-320-8669 

Email: info@onearray.com 

Phalanx Biotech Group provides genomic 

products and services worldwide to academic, 

pharmaceutical, biotech, and clinical research 

communities. Our expertise in expression profiling 

and genetic analysis stems from our excellence 

as an ODM of OneArray ® gene expression 

microarrays, CytoOneArray ® targeted chromosomal 

microarrays, and comprehensive knowledge 

developed as an application-focused service 

provider. 

■ PhenX Toolkit ............................................ 125 

Tel: 919-541-6954 

Email: hmp@rti.org 

URL: http://www.phenxtoolkit.org 

The PhenX Toolkit is a web-based catalog that 

offers high-priority measures for consideration 

and inclusion in genome-wide association studies 

(GWAS) and large-scale genomic research efforts. 

With the Toolkit, investigators can identify highquality, 

standard measures to add to a new or 

ongoing study, and will simplify comparisons 

across studies. 

■ The PMD Foundation, Inc......................... 324 

Tel: 302-383-7748 

Email: PMDChair@pmdfoundation.org 

URL: http://www.pmdfoundation.org 

The PMD Foundation is a 501(c)3 non-profit 

organization formed to make a world where there 

is no Pelizaeus Merzbacher Disease. We do this by 

raising awareness and serving: PMD Children and 

their Families, the General Public, the Researchers 

and the Clinicians. 

EXHIBITORS


■ POSSUM - Murdoch Childrens Research 

Institute ........................................................ 218 

Tel: 61 3 83416277 

Email: possum@mcri.edu.au 

URL: http://www.possum.net.au. 

POSSUMweb is a dysmorphology database. NEW 

RELEASE fully web-based version, with free-text 

search, greater inter-activity, even use on your 

ipad. Assists clinicians in diagnosing syndromes in 

patients, using traits and images. Useful teaching 

tool, around 4000 syndromes including multiple 

malformations, chromosomal abnormalities, 

skeletal dysplasias, metabolic disorders, extensive 

trait atlas. 

■ PreventionGenetics LLC ........................ 1318 

Tel: 715-387-0484 

Email: s.samuels@preventiongenetics.com 

URL: http://www.preventiongenetics.com 

PreventionGenetics offers Next-Gen, Clinical 

DNA Testing and DNA Banking services. We offer 

clinical sequencing tests for over 500 genes. 

Our experienced team of geneticists provide fast 

turnaround times, outstanding personalized service, 

and the most reasonable prices in the industry. Our 

lab is fully CLIA accredited. To learn more visit www. 

preventiongenetics.com. 

■ Progeny Software, LLC ............................ 518 

Tel: 561-859-0773/800-776-4369 

Email: info@progenygenetics.com 

URL: http://www.progenygenetics.com 

Since 1996, Progeny has been the pedigree data 

management software of choice for over 1900 sites 

in over 78 countries. Now available, an online Family 

History Questionnaire that integrates into your EMR, 

or any system. Sample tracking and genotype data 

management software also available. See a demo at 

Booth 518. 

■ Prognosys Biosciences, Inc. .................... 304 

Tel: 858-459-2428 

Email: info@prognosysbio.com 

URL: http://www.prognosysbio.com 

Sequensys, a division of Prognosys Biosciences, 

offers next-generation sequencing services. These 

now include MiSeq services, Voila! study-level RNA- 

Seq analysis, and Rivia target enrichment kits. 



■ Promega Corporation ............................. 1405 

Tel: 608-274-4330 

Email: mary.oconnell@promega.com 

URL: http://www.promega.com 

Promega Corporation is a world leader in applying 

molecular biology and biochemistry to the 

development of innovative, high value products for 

the life sciences. Stop by our booth to learn about 

our latest solutions for nucleic acid purification from 

blood and other sample types as well as products for 

qPCR and RT-qPCR. 

■ Pubget, Inc. ............................................. 1520 

Tel: 800-584-1899 

Email: marketing@pubget.com 

URL: http://www.pubget.com 

Pubget develops cloud-based content access tools 

for researchers. The core product, Pubget.com, 

is a site for legally finding and directly retrieving 

research papers. Pubget.com provides access to 

content for over 500 libraries worldwide. Pubget’s 

corporate services include marketing solutions, 

such as display advertising, API and textmining 

solutions. 

■ Public Library of Science ....................... 1606 

Tel: 415-568-3172 

Email: cassadi@plos.org 

URL: http://www.plos.org 

Public Library of Science (PLOS) is a nonprofit 

open access publisher, membership, and advocacy 

organization with a mission to accelerate progress in 

science and medicine by leading a transformation in 

research communication. 

■ QIAGEN Inc. ............................................. 1001 

Tel: 800-426-8157/800-426-8157 

Email: customercare-us@qiagen.com 

URL: http://www.qiagen.com 

QIAGEN is the leading global provider of sample 

and assay technologies that are used to transform 

biological materials into valuable molecular 

information. QIAGEN markets more than 500 

products around the world, selling both consumable 

kits and automation systems to four customer 

classes: Academia, Applied Testing, Pharma , and 

Molecular Diagnostics.

■ RainDance Technologies, Inc. ................. 910 

Tel: 781-861-6300 

Email: marketing@raindancetech.com 

URL: http://www.RainDanceTech.com 

RainDance Technologies, the Digital Biology 

Company, is pioneering the use of high-throughput 

picodroplet-based analysis in human health and life 

science research. The complete RainDance solution 

includes automated instrumentation, customizable 

bioinformatics and high-value consumables and 

reagents for next-generation DNA sequencing and 

digital PCR applications. 

■ Rare Disease Therapeutics, Inc. ............. 419 

Tel: 615-399-0700 

Email: tpodgorski@raretx.com 

URL: http://www.raretx.com 

Rare Disease Therapeutics, Inc. is Americas first 

exclusively orphan drug company committed to 

developing and marketing drugs for rare disorders. 

RDT is dedicated to patients with unmet medical 

needs that have been overlooked by other 

pharmaceutical companies and distributes Orfadin ® 

(nitisinone) for hereditary tyrosinemia type I and 

Cystadane ® (betaine anhydrous for oral solution) for 

homocystinuria. 

■ Recombine LLC ........................................ 525 

Tel: 646-470-7422 

Email: alex@recombine.com 

URL: http://www.recombine.com 

Recombine is a clinical genetic testing company. We 

provide an integrated service covering everything 

from sample collection to patient counseling. We 

leverage new and powerful genotyping technologies 

to provide state-of-the-art, comprehensive and cost 

effective diagnostics. We simplify the genetic testing 

process so you can focus on caring for your patients. 

■ Roche Applied Science ............................ 701 

Tel: 317-521-4468 

Email: heather.easterling@roche.com 

URL: http://www.roche-applied-science.com 

Roche Applied Science supplies an extensive 

portfolio of instruments and kits to support 

translational research. Our enabling technologies 

include the LightCycler 480 Instrument, MagNA 

Pure 96 Instrument, and custom qPCR assays. 

We also provide solutions for targeted sequencing, 

including the GS Junior and GS FLX Systems, and 

NimbleGen sequence capture. 




■ Rubicon Genomics, Inc. ........................... 803 

Tel: 734-368-1705 

Email: langmore@rubicongenomics.com 

URL: http://www.rubicongenomics.com 

Rubicon provides proprietary ThruPLEX, OmniPLEX, 

and PicoPLEX kits for the most rapid, sensitive 

and reproducible preparation of clinical samples 

(including single cells, plasma, FFPE-tissue 

and immunoprecipitates). Kits for research and 

diagnostics are available from Rubicon, distributors, 

and OEM partners for genetic, epigenetic, and 

expression analysis using NGS, arrays and PCR. 

■ RUCDR ..................................................... 1102 

Tel: 732-445-1027 x40058 

Email: jmckiml@dls.rutgers.edu 

URL: http://www.rucdr.org 

By utilizing a technologically advanced infrastructure 

and the highest quality biomaterials, RUCDR has 

become a world leader in support of genetics 

research. RUCDR scientists work to convert 

precious biosamples into renewable resources 

thereby extending research capabilities. We offer 

comprehensive biobanking, sequencing, nucleic acid 

and functional analytics and stem cell services. 

■ Sage Science Inc. ................................... 1510 

Tel: 888-744-2244 

Email: alex@sagescience.com 

URL: http://www.sagescience.com 

Sage Science manufactures the Pippin Prep and 

BluePippin DNA size selection systems for NGS 

library construction. An automated alternative manual 

gel purification, the platform uses pre-cast agarose 

gel cassettes collects sized DNA fragments in buffer. 

In addition to savings in time and effort, Pippin-sized 

libraries provide superior sequencing results. 

■ Sanford Research ..................................... 325 

Tel: 605-312-6413 

Email: liz.donohue@sanfordhealth.org 

URL: http://www.sanfordresearch.org/cords 

Here at Sanford Research, we are committed to 

finding cures and advancing therapies into rare 

diseases. To further this mission, we established the 

Coordination of Rare Diseases at Sanford (CoRDS) — 

a national rare disease registry designed to accelerate 

research into these rare conditions. CoRDS collects 

and stores basic contact and clinical information on 

individuals of any age who have been diagnosed 

with a rare disease (undiagnosed individuals are also 

eligible for enrollment). 

EXHIBITORS


■ SCC Soft Computer ................................ 1618 

Tel: 727-789-0100 

Email: sales@softcomputer.com 

URL: http://www.softcomputer.com 

SCC Soft Computer’s comprehensive genetics 

information management suite offers a full range of 

genetics tools to automate workflow in the laboratory. 

This suite offers a selection of Cytogenetics, 

Molecular, Flow Cytometry, HLA (immunogenetics), 

Diagnostic Pathology, and Biochemistry systems that 

are highly configurable and allow for unique, userdefined 

protocols. 

■ Science/AAAS ......................................... 1312 

Tel: 202-326-6417/800-731-4939 

Email: membership@aaas.org 

URL: http://www.aaas.org 

Since 1848, AAAS and its members have worked 

together to advance science and serve society. As 

part of these efforts, AAAS publishes Science, a 

multidisciplinary peer-reviewed journal, and offers 

programs focused on science policy, international 

cooperation, science education, diversity, and career 

development for scientists. 

■ SciGene ...................................................... 619 

Tel: 408-733-7337/800-342-2119 

Email: custserv@scigene.com 

URL: http://www.scigene.com/ 

SciGene equipment automates the complex, tedious 

benchwork required to process DNA microarrays 

for CMA testing. Starting with patient DNA, 

specialized instruments perform labeling through 

post-hybridization processing; producing consistently 

high quality arrays ready for scanning. SciGene 

automation boosts productivity, lowering costs, 

reducing re-test rates and standardizing tests for 

more reliable results. 

■ Sequenom, Inc. ......................................... 519 

Tel: 858-202-9000 

Email: aloria@sequenom.com 

URL: http://www.sequenom.com 

Sequenom offers instrumentation and reagents for 

highly sensitive, robust nucleic acid detection. Cited 

in >1,500 publications, the MassARRAY System 

has proven its utility for genetic analysis and GWAS 

validation. The system offers high-throughput, costeffective 

validation of somatic mutations and other 

biomarkers downstream of sequencing. Sequenom 

also offers custom research services. 



■ SeqWright, Inc. .......................................... 726 

Tel: 713-528-4363/800-720-4363 

Email: admin@seqwright.com 

URL: http://www.seqwright.com 

SeqWright, Inc. is a full-service CLIA certified and 

GLP compliant nucleic acid technology CRO focused 

on traditional and next-generation sequencing. The 

companys mission is to drive scientific and medical 

innovation by helping to facilitate and accelerate the 

research, development and regulatory submission 

efforts of its customers. 

■ Seven Bridges Genomics ....................... 1204 

Tel: 617-714-4921 

Email: team@sbgenomics.com 

URL: http://www.sbgenomics.com 

The IGOR platform by Seven Bridges Genomics 

is a cloud computing system that enables clinical/ 

translational researchers to manage and scale 

their own analysis of next-generation sequencing 

data. We enable whole-exome and whole-genome 

analysis with the leading peer-reviewed tools; 

scientists can apply and cite cutting-edge methods 

with no hardware or programming experience 

required. 

■ Shire ........................................................... 600 

Tel: 617-349-0200 

URL: http://www.shire.com 

Shire HGT, a business within the Shire group 

of companies, is committed to developing, 

manufacturing, and commercializing therapies for rare 

genetic diseases. The company achieves this through 

collaboration with academic researchers, physicians 

and patient associations, with the goal of providing 

therapies for patients worldwide. 

■ Signature Genomics from 

PerkinElmer ................................................ 1327 

Tel: 203-925-4602/800-762-4000 



Signature Genomics from PerkinElmer offers 

whole genome microarray assessment with 

combined results of CNE and TA from more than 

1,800 oncogenes, all from one sample, using one 

technology. The analysis and report are provided 

by Signature Genomics’ OncoGlyphix ® software. 

Signature’s Hematology Diagnosis offering is fully 

validated while our Solid Tumor offering is well into 

development.

■ SimulConsult, Inc. ................................... 1266 

Tel: 617-879-1670 

Email: genome@simulconsult.com 

URL: http://www.simulconsult.com 

SimulConsult provides diagnostic decision 

support tools for medical professionals that save 

time. The Genome-Phenome Analyzer provides 

clinical correlations among patient findings, labs 

and annotated variant tables with SimulConsult’s 

manually curated, computational database of 

diseases and their findings, and can be used 

for panels and WES/WGS in CLIA and research 

laboratories. 

■ SoftGenetics, LLC. .................................. 1219 

Tel: 814-237-9340/888-791-1270 

Email: info@softgenetics.com 

URL: http://www.softgenetics.com 

Featuring NextGENe software for analysis of all NGS 

data; enhanced capabilities and functionalities added 

to GeneMarker and New GeneMarkerMTP, multiple 

template Processor. New ChimerMarker, Chimerism 

Analysis and long term monitoring software and 

Mutation Surveyor software for the analysis of 

Sanger Sequences. SoftGenetics is providing 

demonstrations and 30-day trials. 

■ Sony DADC .............................................. 1411 

Tel: 43 (0) 6246 880-0 

Email: biosciences@sonydadc.com 

URL: http://biosciences.sonydadc.com 

Sony DADC, centered in Salzburg, Austria helps 

companies globally respond to the challenges of 

the rapidly growing Life Sciences and IVD market 

by offering OEM development as well as ISO 13485 

certified mass manufacturing and supply of polymerbased 

smart consumables (including content filling, 

packaging and global logistics). 

■ Spiral Genetics .......................................... 113 

Tel: 206-634-2918 

Email: dreesbl@spiralgenetics.com 

Spiral Genetics offers three advantages for DNA 

sequence data analysis: speed, accuracy and scale. 

The company’s cloud-based bioinformatics platform 

is easy to access and analyze, from reads to variants, 

for a whole human genomes’ worth of data in 

3 hours. 




■ Springer ................................................... 1211 

Tel: 212-460-1500/800-777-4643 

Email: exhibits-ny@springer.com 

URL: http://www.springer.com 

Get hands-on experience with Springer’s multiformat 

publishing model: print — eBook — MyCopy 

(printed eBooks for US$ 24.95). Our mission is to 

support your research. Come browse our books in 

your preferred format: print, online, or iPad. Ensure 

optimized print and electronic dissemination of your 

work! Get Read. Publish With Springer. http://www. 

springer.com 

■ STARLIMS ................................................ 1400 

Tel: 954-964-8663 

Email: sales@starlims.com 

URL: http://www.starlims.com 

STARLIMS has nearly 25 years of experience working 

with hundreds of laboratories in the clinical and 

diagnostic sectors. STARLIMS solutions are based 

on the same award-winning platform that has helped 

laboratories around the world achieve their analytical, 

regulatory and business objectives. Its unified webbased 

platform includes LIMS, ELN and SDMS. 

■ Streck ....................................................... 1600 

Tel: 800-843-0912 

Email: custserv@streck.com 

URL: http://www.streck.com 

Streck develops and manufactures products for 

clinical and research laboratories. Streck’s core 

technology is cell stabilization, and the pioneering 

research has led to the development of a number 

of patented products for use in hematology, 

immunology and flow cytometry. Streck’s 

innovative products include blood collection tubes 

and molecular diagnostic products. 

■ SurModics ............................................... 1006 

Tel: 952-500-7000 

Email: bsmith@surmodics.com 

URL: http://www.surmodicsivd.com 

SurModics IVD offers protein stabilizers for 

immunoassays, conjugates, and microarrays (all 

with BSA-free versions), blocking reagents, BioFX 

colorimetric and chemiluminescent substrates, 

secondary antibodies, and several accessory 

reagents, autoimmune and infectious disease 

antigens from Diarect AG, activated microarray slides, 

and custom in vitro diagnostic surface chemistries. 

EXHIBITORS


■ SwitchGear Genomics .............................. 305 

Tel: 650-323-6763 

Email: rinis@switchgeargenomics.com 

SwitchGear Genomics offers a full, simplified 

luciferase-based reporter assay solution with 

18,000 human promoter reporters, 12,000 3’UTR 

reporters, validated inducible promoters, synthetic 

response elements, and optimized reagents to study 

gene regulation as it occurs in living cells. Utilizing a 

novel synthetic luciferase gene with industry-leading 

brightness, the LightSwitch System measures the 

impact of transcript regulation and translational 

efficiency in cell-based systems. 

■ Tecan .......................................................... 405 

Tel: 919-361-5200/800-352-5128 

Email: claire.rhodes@tecan.com 

URL: http://www.tecan.com 

Tecan is a leading global provider of laboratory 

instruments and solutions. The company specializes 

in the development, production and distribution 

of instruments and automated workflow solutions 

for laboratories in the life sciences sector. Its 

clients include pharmaceutical and biotechnology 

companies, university research departments, forensic 

and diagnostic laboratories. 

■ Therapeutics for Rare and Neglected 

Diseases .......................................................220 

Tel: 301-827-2533 

Email: trnd@mail.nih.gov 

URL: http://trnd.nih.gov 

The Therapeutics for Rare and Neglected 

Diseases (TRND) program is an effort to encourage 

and speed the development of new drugs for rare and 

neglected diseases. TRND provides an opportunity 

to gain access to rare and neglected disease drug 

development capabilities, expertise, and clinical/ 

regulatory resources in a collaborative environment. 

■ Thermo Scientific ...................................... 624 

Tel: 800-678-5599 

Email: info@nanodrop.com 

URL: http://www.thermoscientific.com 

Demand Thermo Scientific products to accelerate 

discovery and move science forward. The Thermo 

Scientific portfolio includes a broad array of 

high-quality instruments, reagents, laboratory 

consumables, equipment, and services designed to 

help you run your laboratory at peak performance, 

from start to finish. See the entire Thermo Scientific 

lineup at www.thermoscientific.com 



■ Time Logic ................................................. 426 

Tel: 760-431-1263/877-222-9543 

Email: tlsales@activemotif.com 

URL: http://www.timelogic.com/ 

About TimeLogic For the past 15 years, TimeLogic 

has been providing high-throughput computing 

solutions for the bioinformatics community. Our 

FPGA-based DeCypher systems deliver industryleading 

price to performance and provide faster 

results and lower operational costs than alternative 

solutions. Find out more and schedule your own 

benchmark tests at www.timelogic.com 

■ Transgenomic, Inc. ................................... 505 

Tel: 402-452-5400/888-813-7253 

Email: info@transgenomic.com 

URL: http://www.transgenomic.com 

Transgenomic, Inc. advances personalized 

medicine in cancer and inherited diseases through 

proprietary technologies and clinical and research 

services. Transgenomic has three divisions: 

Diagnostic Tools produces equipment, reagents, and 

consumables for molecular testing and cytogenetics. 

Pharmacogenomic Services supports oncology 

preclinical and clinical trials. Clinical Laboratories 

provides molecular diagnostics. 

■ trinean ...................................................... 1605 

Tel: 00 3292727535 

Email: tony.montoye@trinean.com 

URL: http://www.trinean.com 

Trinean offers the DropSense96 platform for 

high throughput and label-free DNA-RNAprotein 

quantification. This microfluidic-based 

reader performs UV/VIS scans on 96 droplets (2l) 

within 5 minutes. In-depth spectral analysis by 

the innovative cDrop software allows specific 

quantification by defining the spectral contribution of 

the target molecule and co-purified substances within 

samples. 

■ UAB Medical Genomics Laboratory ........ 320 

Tel: 205-934-5562 

Email: medgenomics@uab.edu 

URL: http://www.genetics.uab.edu/medgenomics 

The Medical Genomics Laboratory (MGL) is a 

CAP-certified, non-profit clinical laboratory at the 

University of Alabama at Birmingham, offering 

comprehensive testing for common and rare genetic 

disorders. The MGL specializes in testing for all forms 

of the neurofibromatoses, including NF1, Legius 

syndrome, NF2, segmental NF, spinal NF, NF-Noonan 

and schwannomatosis.

■ UCLA Clinical Genomics Center ............. 923 

Tel: 310-775-5884 

Email: scwebb@mednet.ucla.edu 

URL: http://www.pathology.ucla.edu/genomics 

The comprehensive services of the UCLA Clinical 

Genomics Center, performed within CLIA-certified 

and CAP-accredited laboratories, include an 

extensive menu of genetic and genomic testing 

for hereditary disorders (including whole exome 

sequencing), cancer diagnosis and management, 

and genetic counseling. Other areas of expertise 

include Sanger sequencing, FISH diagnostics, and 

chromosomal microarray. 

■ The University of Chicago Genetic 

Services ........................................................409 

Tel: 773-834-0555/888-824-3637 

Email: ucgslabs@genetics.uchicago.edu 

URL: http://dnatesting.uchicago.edu 

Our laboratory is committed to high quality genetic 

diagnostics and translational research toward the 

development of tests for orphan diseases. Our 

focus is neurodevelopmental disorders. Some 

of our services include genetic testing for brain 

malformation syndromes, microcephaly, epileptic 

encephalopathy and Cornelia de Lange syndrome. 

■ University of Southern California, 

Information Sciences Institute ...................226 

Tel: 310-822-1511 

Email: arens@isi.edu 

The University of Southern California’s Information 

Sciences Institute and the University of North 

Carolina, Chappel Hill, funded by NHLBI’s Phenotype 

Finder IN Data Resources (PFINDR) program, are 

developing advanced informatics approaches to 

categorize and correlate phenotypic measures across 

multiple datasets to improve data reuse and facilitate 

novel discoveries. 

■ USB products from Affymetrix ................. 925 

Tel: 216-765-5000/800-321-9322 

Email: usbcustomerservice 

@affymetrix.com 

URL: http://usb.affymetrix.com 

Affymetrix ® , Inc. offers a broad line of USB ® 

molecular biology products and biochemicals for all 

of your research needs. Choose from ExoSAP-IT ® 

reagent for PCR cleanup, VeriQuest qPCR Master 

Mixes, DNA polymerases, PrepEase ® purification 

products for DNA, RNA, and protein purification, 

modifying enzymes, cloning kits, nucleotides, and 

more. Visit usb.affymetrix.com. 




■ V&P Scientific, Inc. .................................. 1425 

Tel: 858-455-0643/800-455-0644 

Email: sales@vp-scientific.com 

URL: http://www.vp-scientific.com 

V&Ps 96, 384 and 1536 pin tools transfer nanoliter 

through microliter volumes to microplates, agar, 

membranes, glass slides. Unique stirring systems 

for mixing in microplates and reservoirs keep cells, 

particulates and magnetic beads in suspension for 

pipetting. Hand-Held Magnetc Bead Separation 

Blocks for rapid manual separation and washing in 

microplates. 

■ Wiley - Blackwell ..................................... 1203 

Tel: 201-748-6000 

Email: info@wiley.com 

URL: http://www.wiley.com 

Wiley-Blackwell is the international scientific, 

technical, medical and scholarly publishing business 

of John Wiley & Sons, with strengths in every major 

academic and professional field and partnerships 

with many of the world’s leading societies. For more 

information, please visit www.wileyblackwell.com or 

http://onlinelibrary.wiley.com/ 

■ Zymo Research Corporation ................... 400 

Tel: 949-679-1190/888-882-9682 

Email: ssanchez@zymoresearch.com 

URL: http://www.zymoresearch.com 

Since 1994, Zymo Research has been offering 

innovative, quality, and easy-to-use tools for 

Epigenetics research and DNA/RNA purification. As 

“The Epigenetics Company” Zymo Research is an 

industry leader in epigenetic product and service 

development. Our products are well known for their 

quality, affordability, efficiency, and unparalleled 

technical and customer support. 

EXHIBITORS









Central

96- AND 384-WELL TRACKING DEVICE/ 

PIPETTING AID 

Embi Tec .............................................................. 1406 

ACCOUNTING & FINANCIAL SERVICES 

FASEB ................................................................. 1700 

AFFINITY-PURIFIED SECONDARY ANTIBODIES 

AnaSpec Inc, Eurogentec Group ......................... 1100 

Epigentek Group Inc. ........................................... 1127 

SurModics ........................................................... 1006 

AFFYMETRIX CHIP RESEQUENCING ANALYSIS 

JSI medical systems GmbH ................................ 1023 

AGAROSE 

Affymetrix, Inc. ...................................................... 918 

USB products from Affymetrix .............................. 925 

AGG MAPPING 

ASURAGEN, INC. .................................................. 503 

ALLELE SPECIFIC EXPRESSION ANALYSIS 

EpigenDx ............................................................... 721 

ALPHA FETO-PROTEIN TESTING (AFP) 

ARUP Laboratories .............................................. 1518 

ALZHEIMER TESTING SERVICES 

Athena Diagnostics ............................................. 1308 

ANALYTICAL SERVICES 


Expression Analysis ............................................... 508 

Genformatic ......................................................... 1420 

Golden Helix, Inc. .................................................. 818 

Knome, Inc. ......................................................... 1007 

RUCDR ................................................................ 1102 

Seven Bridges Genomics .................................... 1204 

ARM PROBES 

MetaSystems ....................................................... 1303 

ASSOCIATION 

BC Platforms Ltd ................................................... 819 

FASEB ................................................................. 1700 


Human Variome Project Int. Ltd ............................ 221 

ASSOCIATION MANAGEMENT SERVICES 

FASEB ................................................................. 1700 

AUTOIMMUNE ANTIGENS 

SurModics ........................................................... 1006 

AUTOMATED GENETIC ANALYSIS 

INSTRUMENTATION 

Advanced Analytical ............................................ 1304 

Applied Spectral Imaging, Inc. ............................ 1220 

PRODUCT AND SERVICE INDEX 

299 

Beckman Coulter, Inc. ......................................... 1601 

BioNano Genomics, Inc. ....................................... 924 

Diagenode Inc ....................................................... 406 

Genformatic ......................................................... 1420 

Innopsys ................................................................ 805 

Labcyte Inc. ......................................................... 1402 

Leica Microsystems Corp ...................................... 824 

MetaSystems ....................................................... 1303 

NanoString Technologies, Inc................................ 210 

Pacific Biosciences ............................................... 610 

RainDance Technologies, Inc. ............................... 910 

RUCDR ................................................................ 1102 

Sequenom, Inc. ..................................................... 519 

AUTOMATED KARYOTYPING 



MetaSystems ....................................................... 1303 

AUTOMATED LIQUID HANDLING WORKSTATIONS 

Agilent Technologies ............................................. 609 


Diagenode Inc ....................................................... 406 

Labcyte Inc. ......................................................... 1402 

Tecan ..................................................................... 405 

trinean .................................................................. 1605 

AUTOMATED NUCLEIC ACID PURIFICATION 

INSTRUMENTATION 

AutoGen, Inc. ........................................................ 807 


chemagen from PerkinElmer ............................... 1426 

IntegenX Inc. ....................................................... 1311 

RUCDR ................................................................ 1102 

Tecan ..................................................................... 405 

trinean .................................................................. 1605 

BAC DNA ISOLATION 

AutoGen, Inc. ........................................................ 807 


EdgeBio ............................................................... 1506 

Epicentre (an Illumina company) ......................... 1218 

SeqWright, Inc. ...................................................... 726 

Zymo Research Corporation ................................. 400 

BACTERIAL ELECTROPORATION SYSTEMS 

Bio-Rad ................................................................. 524 

BAR CODE 

Data Unlimited International, Inc. ........................ 1503 

BIOCHEMICAL ANALYSES 


Baylor College of Medicine, Medical Genetics 

Laboratories........................................................ 711 

Greenwood Genetic Center ................................. 1027 

Prognosys Biosciences, Inc. ................................. 304 

Tecan ..................................................................... 405 

PRODUCT INDEX

300 PRODUCT AND SERVICE INDEX 

BIOCHEMICAL REAGENTS 





Gene Tools, LLC .................................................. 1401 


Roche Applied Science ......................................... 701 


BIOCHEMICALS 


Gene Tools, LLC .................................................. 1401 

SurModics ........................................................... 1006 


BIOINFORMATICS 

Gene Codes Corporation .................................... 1310 

BIOLOGICALS 

Alexion Pharmaceuticals ..................................... 1410 

SurModics ........................................................... 1006 

Therapeutics for Rare and Neglected Diseases .... 220 

BIOMARKERS 

Exiqon ................................................................. 1712 

BIOMATERIALS 

AGRE-Autism Genetic Resource Exchange .......... 319 

Diagenode Inc ....................................................... 406 

RUCDR ................................................................ 1102 

BIOTINYLATED ANTIBODIES 


SurModics ........................................................... 1006 

BISULFITE SEQUENCING 

NXT-Dx ................................................................ 1025 

BLOOD DNA PURIFICATION 

AutoGen, Inc. ........................................................ 807 

BioReliance ........................................................... 604 


Embi Tec .............................................................. 1406 

Gene Link, Inc ....................................................... 627 

RUCDR ................................................................ 1102 


BLOTTING EQUIPMENT 

Bio-Rad ................................................................. 524 

BLOTTING MEMBRANES 

Bio-Rad ................................................................. 524 

BOOKS, JOURNALS, AND ELECTRONIC 

PUBLICATIONS 

Cold Spring Harbor Laboratory Press ................. 1209 

BOOKS, JOURNALS, ENCYCLOPEDIAS, 

PUBLICATIONS 

American Journal of Human Genetics ................... 913 


Elsevier ................................................................ 1210 

FASEB ................................................................. 1700 



Karger Publishers ................................................ 1208 

Oxford University Press ....................................... 1200 

Springer ............................................................... 1211 

BUCCAL DNA PURIFICATION 

AutoGen, Inc. ........................................................ 807 

BioReliance ........................................................... 604 


RUCDR ................................................................ 1102 

Tecan ..................................................................... 405 


CANCER GENE PANELS 

SeqWright, Inc. ...................................................... 726 

cDNA 

Bioline USA Inc. ................................................... 1324 



Gene Link, Inc ....................................................... 627 

IntegenX Inc. ....................................................... 1311 

QIAGEN Inc. ........................................................ 1001 

SeqWright, Inc. ...................................................... 726 

Thermo Scientific................................................... 624 

cDNA LIBRARIES 


BioReliance ........................................................... 604 

IntegenX Inc. ....................................................... 1311 

SeqWright, Inc. ...................................................... 726 


CELL BANKING 

BioReliance ........................................................... 604 

RUCDR ................................................................ 1102 

CELL CULTURE MEDIA 

Applied StemCell, Inc. ........................................... 527 

Irvine Scientific ...................................................... 620 

Life Technologies ................................................... 601 

CELL CULTURES 


BioReliance ........................................................... 604 

Coriell Institute for Medical Research ................... 312 

RUCDR ................................................................ 1102 

CELL DISRUPTORS 

Diagenode Inc ....................................................... 406

CELL SEPARATION EQUIPMENT 

Diagenode Inc ....................................................... 406 

CELLULAR IMAGING 

PerkinElmer, Inc. Life Sciences & Technology ..... 1325 

CELLULAR ISOLATION PRODUCTS 

NVIGEN ............................................................... 1403 

CHARACTERIZATION 

SeqWright, Inc. ...................................................... 726 

CHEMICALS 


CHEMILUMINESCENCE SYSTEMS 

Gene Link, Inc ....................................................... 627 

SurModics ........................................................... 1006 

CHIP PRODUCTS 

Ambry Genetics ..................................................... 311 

Covaris Inc. ......................................................... 1008 

Diagenode Inc ....................................................... 406 

Innopsys ................................................................ 805 

IntegenX Inc. ....................................................... 1311 

Oxford Gene Technology ....................................... 302 

Recombine LLC ..................................................... 525 

RUCDR ................................................................ 1102 

Sony DADC ......................................................... 1411 

trinean .................................................................. 1605 

CHIP-SEQ 

Axeq Technologies ................................................ 820 

CHROMATIN IMMUNOPRECIPITATION 

PRODUCTS 

Diagenode Inc ....................................................... 406 

CHROMATOGRAPHY WORKSTATIONS 

Transgenomic, Inc. ................................................ 505 

CHROMOSOMAL ABERRATIONS 



BioDiscovery, Inc. .................................................. 813 

Cartagenia ........................................................... 1022 

GeneDx ................................................................ 1119 

MetaSystems ....................................................... 1303 

MRC-Holland ....................................................... 1122 



RUCDR ................................................................ 1102 


Signature Genomics from PerkinElmer ............... 1327 

CHROMOSOMAL ANEUPLOIDY SCREENING 

Ariosa Diagnostics ............................................... 1609 

CHROMOSOMAL MICROARRAY 

UCLA Clinical Genomics Center ........................... 923 

PRODUCT AND SERVICE INDEX 301 

CHROMOSOME ANALYSES 






Laboratories........................................................ 711 

BlueGnome Limited ............................................... 209 

Cincinnati Children’s Hospital Medical Center .... 1505 



Knome, Inc. ......................................................... 1007 


MetaSystems ....................................................... 1303 



Phalanx Biotech Group ......................................... 307 

RUCDR ................................................................ 1102 




CHROMOSOME ENUMERATOR PROBES 

Abbott Molecular ................................................... 625 

Cytocell Ltd/Rainbow Scientific, Inc. .................... 404 

CHROMOSOME IN SITU SYSTEMS 

MetaSystems ....................................................... 1303 

CHROMOSOME PAINTING SYSTEMS 


CLINICAL TRIAL SUPPORT 

SeqWright, Inc. ...................................................... 726 

CLONING PRODUCTS 



EdgeBio ............................................................... 1506 

Embi Tec .............................................................. 1406 


New England Biolabs, Inc. .................................... 904 


CMA AUTOMATION EQUIPMENT 

SciGene ................................................................. 619 

COLUMNS 


COMPETITIVE GENOMIC HYBRIDIZATION 

INSTRUMENT 


MetaSystems ....................................................... 1303 

Tecan ..................................................................... 405 

COMPUTER SOFTWARE 



Biobase Corporation ........................................... 1319 

PRODUCT INDEX



Cartagenia ........................................................... 1022 

CLC bio ................................................................. 501 


Enlis Genomics ...................................................... 203 


GeneInsight ......................................................... 1224 

Genformatic ......................................................... 1420 


Hitachi Solutions America Ltd. ............................ 1502 

Innopsys ................................................................ 805 

Interactive Biosoftware .......................................... 413 


Knome, Inc. ......................................................... 1007 


MetaSystems ....................................................... 1303 

Omixon Biocomputing .......................................... 205 


Palmyra Software ................................................ 1519 

Partek Incorporated............................................. 1307 


Progeny Software, LLC ......................................... 518 

SCC Soft Computer ............................................ 1618 

University of Southern California, Information 

Sciences Institute ............................................... 226 

CONFOCAL SCANNER 

Innopsys ................................................................ 805 

CONTRACT RESEARCH SYNTHESIS 

Knome, Inc. ......................................................... 1007 


COURSES & CONFERENCES 

European Human Genetics Conference 2013 ....... 219 

Science/AAAS ..................................................... 1312 

CULTURED CELLS 


CUSTOM ANTIBODIES 


SurModics ........................................................... 1006 

CUSTOM CDNA LIBRARIES 

BioReliance ........................................................... 604 

SeqWright, Inc. ...................................................... 726 

CUSTOM CLONING SERVICE 

SeqWright, Inc. ...................................................... 726 

CUSTOM DNA PROBES 



Gene Link, Inc ....................................................... 627 

MetaSystems ....................................................... 1303 

CUSTOMIZED OLIGOS 



Gene Link, Inc ....................................................... 627 

Gene Tools, LLC .................................................. 1401 

Integrated DNA Technologies, Inc. ........................ 301 

CUSTOM LABORATORY WORKFLOW SYSTEMS 


GeneInsight ......................................................... 1224 

CUSTOM MEDIA SERVICES 


CUSTOM MONOCLONAL ANTIBODY SERVICE 


CUSTOM MUTATION ANALYSIS 


CUSTOM SHOTGUN LIBRARIES 

SeqWright, Inc. ...................................................... 726 

CUSTOM TARGETED SEQUENCING 

Center for Inherited Disease Research (CIDR) ...... 119 

CUVETTES - ELECTROPORATION 

Bio-Rad ................................................................. 524 

CYTOGENETIC ANALYZER 



Illumina, Inc. ........................................................ 1109 



Tecan ..................................................................... 405 


CYTOGENETIC TESTING 



Laboratories........................................................ 711 


Emory Genetics Laboratory................................... 211 

GeneDx ................................................................ 1119 


Innopsys ................................................................ 805 




SciGene ................................................................. 619 




DATABASE MANAGEMENT - CLINICAL GENETICS 


Cartagenia ........................................................... 1022 


GeneInsight ......................................................... 1224 

Genformatic ...............................................................1420 

Genial Genetic Solutions/Rainbow 

Scientific, Inc. ...................................................... 402 

GenoLogics ......................................................... 1105 

Interactive Biosoftware .......................................... 413

MetaSystems ....................................................... 1303 


RUCDR ................................................................ 1102 




DATABASE MANAGEMENT - CYTOGENETICS 



Cartagenia ........................................................... 1022 


Genial Genetic Solutions/Rainbow Scientific, Inc. .....402 

MetaSystems ....................................................... 1303 





DATABASE MANAGEMENT - MOLECULAR 

GENETICS 


Cartagenia ........................................................... 1022 


Genformatic ......................................................... 1420 

Genial Genetic Solutions/Rainbow Scientific, Inc. .....402 

GenoLogics ......................................................... 1105 


Laboratory for Molecular Medicine, PCPGM ...... 1225 





DATABASE OF BIOTECHNOLOGY JOBS 

Science/AAAS ..................................................... 1312 

DATABASE PROTEOMICS 


DATABASES - GENE MAPPING 




Knome, Inc. ......................................................... 1007 

RUCDR ................................................................ 1102 

DATABASES - GENETIC COUNSELING 

Natera .................................................................... 504 


DATABASES - GENETIC ORGANIZATIONS 

Natera .................................................................... 504 

NextGxDx .............................................................. 411 

Sanford Research .................................................. 325 

DATABASES - GENETIC TESTING 



GeneInsight ......................................................... 1224 

GeneTests ............................................................ 1413 


Genformatic ......................................................... 1420 


MetaSystems ....................................................... 1303 

Natera .................................................................... 504 

DATABASES - LABORATORIES 


Cartagenia ........................................................... 1022 


GeneTests ............................................................ 1413 


MetaSystems ....................................................... 1303 

Natera .................................................................... 504 


DATABASES - PHENOTYPE/DISEASE 

DESCRIPTIONS 



GeneInsight ......................................................... 1224 

GeneTests ............................................................ 1413 



Knome, Inc. ......................................................... 1007 

POSSUM - Murdoch Childrens Research Institute .....218 




DATA COORDINATING CENTER (DCC) 


DENSITOMETERS 

Bio-Rad ................................................................. 524 

DIAGNOSTIC AIDS 



MRC-Holland ....................................................... 1122 

POSSUM - Murdoch Childrens Research Institute ...218 

Rubicon Genomics, Inc. .......................................... 803 

SurModics ........................................................... 1006 

DIAGNOSTIC SYSTEMS 


Exiqon ................................................................. 1712 

Gene Link, Inc ....................................................... 627 

Innopsys ................................................................ 805 



QIAGEN Inc. ........................................................ 1001 

Rubicon Genomics, Inc. ........................................ 803 


DIRECT LABELED PROBES 


MetaSystems ....................................................... 1303 

DISPENSERS 

Labcyte Inc. ......................................................... 1402 

Tecan ..................................................................... 405 

PRODUCT INDEX


DNA AMPLIFICATION EQUIPMENT 


Bio-Rad ................................................................. 524 


Natera .................................................................... 504 

QIAGEN Inc. ........................................................ 1001 



Streck .................................................................. 1600 

DNA ANALYSES 





Laboratories........................................................ 711 


BioFire Diagnostics ............................................... 719 



Bio-Rad ................................................................. 524 

BioReliance ........................................................... 604 


Cartagenia ........................................................... 1022 


CLC bio ................................................................. 501 

Connective Tissue Gene Tests .............................. 718 

DNAnexus, Inc. ...................................................... 507 

EdgeBio ............................................................... 1506 






IntegenX Inc. ....................................................... 1311 


Knome, Inc. ......................................................... 1007 

MetaSystems ....................................................... 1303 

MRC-Holland ....................................................... 1122 

Myriad Genetic Laboratories ............................... 1501 


Natera .................................................................... 504 






QIAGEN Inc. ........................................................ 1001 


Recombine LLC ..................................................... 525 

RUCDR ................................................................ 1102 

Sequenom, Inc. ..................................................... 519 

SeqWright, Inc. ...................................................... 726 




trinean .................................................................. 1605 


DNA CUSTOM SYNTHESIS 

Gene Link, Inc ....................................................... 627 


SeqWright, Inc. ...................................................... 726 

DNA DAMAGE DETECTION PRODUCTS 

MetaSystems ....................................................... 1303 

DNA FINGERPRINTING 

BioReliance ........................................................... 604 

IntegenX Inc. ....................................................... 1311 

PreventionGenetics LLC ...................................... 1318 


DNA ISOLATION KITS 



AutoGen, Inc. ........................................................ 807 



Diagenode Inc ....................................................... 406 

DNA Genotek ........................................................ 900 



Gene Link, Inc ....................................................... 627 


NVIGEN ............................................................... 1403 




DNA LABELING PRODUCTS 



Gene Link, Inc ....................................................... 627 

MetaSystems ....................................................... 1303 


SciGene ................................................................. 619 

DNA MARKERS 


BioReliance ........................................................... 604 

Embi Tec .............................................................. 1406 

Natera .................................................................... 504 



QIAGEN Inc. ........................................................ 1001 


DNA MARKERS & STAIN 



DNA METHYLATION ANAYLSIS 

Diagenode Inc ....................................................... 406 

DNA METHYLATION ASSAY DESIGN AND 

VALIDATION 

EpigenDx ............................................................... 721

DNA METHYLATION CONTROLS 

(HUMAN, RAT, MOUSE) 

EpigenDx ............................................................... 721 

DNA MUTATION DETECTION PRODUCTS 



ASURAGEN, INC. .................................................. 503 

Bio-Rad ................................................................. 524 

Boreal Genomics ................................................... 724 


MRC-Holland ....................................................... 1122 







DNA PREPARATION 

BioReliance ........................................................... 604 



Covaris Inc. ......................................................... 1008 

Diagenode Inc ....................................................... 406 

DNA Genotek ........................................................ 900 

EdgeBio ............................................................... 1506 



IntegenX Inc. ....................................................... 1311 

Microsonic Systems Inc. ....................................... 618 




RUCDR ................................................................ 1102 

Sage Science Inc. ................................................ 1510 

SciGene ................................................................. 619 

SeqWright, Inc. ...................................................... 726 

trinean .................................................................. 1605 


DNA PROBES 



Gene Link, Inc ....................................................... 627 


MRC-Holland ....................................................... 1122 



QIAGEN Inc. ........................................................ 1001 

DNA PURIFICATION 


AutoGen, Inc. ........................................................ 807 

BioReliance ........................................................... 604 


Diagenode Inc ....................................................... 406 

DNA Genotek ........................................................ 900 

EdgeBio ............................................................... 1506 




IntegenX Inc. ....................................................... 1311 



NVIGEN ............................................................... 1403 




SciGene ................................................................. 619 

SeqWright, Inc. ...................................................... 726 

Tecan ..................................................................... 405 



DNA RECOVERY DEVICES 

Embi Tec .............................................................. 1406 


DNA SAMPLES 


BioReliance ........................................................... 604 


Diagenode Inc ....................................................... 406 

DNA Genotek ........................................................ 900 

IntegenX Inc. ....................................................... 1311 

QIAGEN Inc. ........................................................ 1001 


RUCDR ................................................................ 1102 

trinean .................................................................. 1605 

DNA SEQUENCE ANALYSIS SOFTWARE 



BGI ...................................................................... 1419 

Cartagenia ........................................................... 1022 

DNASTAR, Inc. ...................................................... 801 



Genformatic ......................................................... 1420 


Illumina, Inc. ........................................................ 1109 



Knome, Inc. ......................................................... 1007 


Natera .................................................................... 504 








DNA SEQUENCERS 

Diagenode Inc ....................................................... 406 

Illumina, Inc. ........................................................ 1109 

Ion Torrent ............................................................. 100 


Natera .................................................................... 504 

PRODUCT INDEX





DNA SEQUENCING ACCESSORIES 


Covaris Inc. ......................................................... 1008 

Diagenode Inc ....................................................... 406 

EdgeBio ............................................................... 1506 


Illumina, Inc. ........................................................ 1109 

IntegenX Inc. ....................................................... 1311 





DNA SEQUENCING KITS 


Diagenode Inc ....................................................... 406 

EdgeBio ............................................................... 1506 



Kailos Genetics, Inc. .............................................. 310 

Natera .................................................................... 504 





DNA SEQUENCING SERVICES 




BGI ...................................................................... 1419 

BioReliance ........................................................... 604 


Complete Genomics, Inc. ...................................... 907 


EdgeBio ............................................................... 1506 


GeneDx ................................................................ 1119 

Illumina, Inc. ........................................................ 1109 


Knome, Inc. ......................................................... 1007 





SeqWright, Inc. ...................................................... 726 

The University of Chicago Genetic Services ......... 409 

DNA SEQUENCING SOLUTIONS 

BGI ...................................................................... 1419 


BioReliance ........................................................... 604 

CLC bio ................................................................. 501 

Diagenode Inc ....................................................... 406 

DNASTAR, Inc. ...................................................... 801 

EdgeBio ............................................................... 1506 



Genformatic ......................................................... 1420 


Illumina, Inc. ........................................................ 1109 

IntegenX Inc. ....................................................... 1311 

Ion Torrent ............................................................. 100 

Natera .................................................................... 504 




SeqWright, Inc. ...................................................... 726 

Spiral Genetics ...................................................... 113 

DNA SHEARING 

Diagenode Inc ....................................................... 406 

DNA SIGNING & STR ANALYSIS 

Genformatic ......................................................... 1420 


SeqWright, Inc. ...................................................... 726 

DNA SYNTHESIS PRODUCTS 

Gene Link, Inc ....................................................... 627 


QIAGEN Inc. ........................................................ 1001 


DNA WORKSTATION 

IntegenX Inc. ....................................................... 1311 


QIAGEN Inc. ........................................................ 1001 

SciGene ................................................................. 619 

Tecan ..................................................................... 405 

trinean .................................................................. 1605 

DRI BLOCK HEATER 

SciGene ................................................................. 619 

DRUG TARGET/BIOMARKER DISCOVERY AND 

VALIDATION 

SeqWright, Inc. ...................................................... 726 

DYES & LABELING REAGENTS 


EBV IMMORTALIZATION 

RUCDR ................................................................ 1102 

EDUCATIONAL RESOURCES 



National Center for Biotechnology Information ..... 224 

Office of Rare Diseases Research (NIH) ................ 326 

POSSUM - Murdoch Childrens Research Institute .... 218 

Pubget, Inc. .......................................................... 1520 

Science/AAAS ..................................................... 1312 

ELECTRONIC IMAGING SYSTEMS 


Leica Microsystems Corp ...................................... 824

ELECTROPHORESIS ACCESSORIES 

Embi Tec .............................................................. 1406 

Sony DADC ......................................................... 1411 

ELECTROPHORESIS BUFFERS 

Embi Tec .............................................................. 1406 

SurModics ........................................................... 1006 


ELECTROPHORESIS EQUIPMENT 



Bio-Rad ................................................................. 524 

Embi Tec .............................................................. 1406 

QIAGEN Inc. ........................................................ 1001 


ELECTROPHORESIS PRECAST GELS 

Embi Tec .............................................................. 1406 


EMPLOYMENT OPPORTUNITIES-CAREER 

RESOURCES 

Science/AAAS ..................................................... 1312 

ENZYME-CONJUGATED ANTIBODIES 



SurModics ........................................................... 1006 

ENZYME REPLACEMENT THERAPY 

BioMarin Pharmaceutical Inc. ............................. 1619 

Shire ...................................................................... 600 

ENZYMES 





QIAGEN Inc. ........................................................ 1001 




EPIGENETIC PRODUCTS 

Diagenode Inc ....................................................... 406 

EPIGENETIC SERVICES 


EXOME SEQUENCING, TARGETED SEQUENCING 


EXPRESSION ANALYSIS SOFTWARE 




Sequenom, Inc. ..................................................... 519 


FACTOR V MUTATION 


FACTOR V MUTATION TESTING 





FAMILIAL MEDITERRANEAN FEVER 


FILMARRAY MULTIPLEX PCR MOLECULAR 

INFECTIOUS DISEASE TESTING PLATFORM 


FILTERS, CUSTOM 


FILTERS, FILTER SETS 


FILTERS, MULTICOLOR SETS 


FISH SLIDE AUTOMATION EQUIPMENT 

SciGene ................................................................. 619 

FISH SYSTEMS 




MetaSystems ....................................................... 1303 

Natera .................................................................... 504 

SciGene ................................................................. 619 

Tecan ..................................................................... 405 

FISH TESTING 




Laboratories........................................................ 711 





MetaSystems ....................................................... 1303 


SciGene ................................................................. 619 



FLUORESCENCE IMAGE ANALYSIS EQUIPMENT 



Innopsys ................................................................ 805 


MetaSystems ....................................................... 1303 

FLUORESCENCE REPORTER DYES 


PRODUCT INDEX


FLUORESCENT ANTIBODIES 



MetaSystems ....................................................... 1303 

SurModics ........................................................... 1006 

FLUORESCENT FILTERS 


MetaSystems ....................................................... 1303 

Tecan ..................................................................... 405 

FLUORESCENT IMAGING 

Bio-Rad ................................................................. 524 

Incom, Inc. ........................................................... 1300 

Innopsys ................................................................ 805 


MetaSystems ....................................................... 1303 


NVIGEN ............................................................... 1403 

FLUORESCENT SUBSTRATES 


FLUOROGENIC PROBES 



MetaSystems ....................................................... 1303 

FLUOROMETER 

Tecan ..................................................................... 405 

trinean .................................................................. 1605 

FRAGILE X TESTING 


ASURAGEN, INC. .................................................. 503 



Laboratories........................................................ 711 




Natera .................................................................... 504 


RUCDR ................................................................ 1102 




FREE BETA/PAPP-A SCREENING WITH NUCHAL 

TRANSLUCENCY (NT) 


FREE BETA PRENATAL SCREENING 


FREIDRICH’S ATAXIA 


FRET PROBES 


Gene Link, Inc ....................................................... 627 


GEL ELECTROPHORESIS EQUIPMENT 

Bio-Rad ................................................................. 524 

Diagenode Inc ....................................................... 406 

Embi Tec .............................................................. 1406 

QIAGEN Inc. ........................................................ 1001 

GEL READING APPARATUS 

Embi Tec .............................................................. 1406 

GENE AMPLIFICATION PROBES 

Gene Link, Inc ....................................................... 627 


Natera .................................................................... 504 

QIAGEN Inc. ........................................................ 1001 


GENE EXPRESSION MICROARRAYS 






Illumina, Inc. ........................................................ 1109 

Innopsys ................................................................ 805 


Natera .................................................................... 504 




QIAGEN Inc. ........................................................ 1001 

RUCDR ................................................................ 1102 

SeqWright, Inc. ...................................................... 726 

Tecan ..................................................................... 405 

GENE EXPRESSION PRODUCTS 




BGI ...................................................................... 1419 


Bio-Rad ................................................................. 524 

Diagenode Inc ....................................................... 406 


Illumina, Inc. ........................................................ 1109 

Ingenuity Systems, Inc. ....................................... 1101 





QIAGEN Inc. ........................................................ 1001 



SciGene ................................................................. 619 

Sequenom, Inc. ..................................................... 519 

SwitchGear Genomics........................................... 305 

Thermo Scientific................................................... 624

GENE FUNCTION DATABASES 





Knome, Inc. ......................................................... 1007 


GENE MAPPING DATABASE 




Illumina, Inc. ........................................................ 1109 

Natera .................................................................... 504 

GENE MAPPING PRODUCTS 

Illumina, Inc. ........................................................ 1109 

Natera .................................................................... 504 



RUCDR ................................................................ 1102 

GENE SYNTHESIS 


QIAGEN Inc. ........................................................ 1001 


GENE TARGETING 



Natera .................................................................... 504 


QIAGEN Inc. ........................................................ 1001 

SeqWright, Inc. ...................................................... 726 


GENE TARGETING REAGENTS & VECTORS 


Gene Tools, LLC .................................................. 1401 

Natera .................................................................... 504 



GENE THERAPY PRODUCTS 


QIAGEN Inc. ........................................................ 1001 


GENETICALLY ENGINEERED MICE 

Amicus Therapeutics, Inc. ..................................... 511 

GENETIC COUNSELING & SERVICES 



Laboratories........................................................ 711 





GENETIC RESOURCE 



Natera .................................................................... 504 

NextGxDx .............................................................. 411 

POSSUM - Murdoch Childrens Research 

Institute ............................................................... 218 

GENETIC TESTING - 1A+ MYOTONIC DYSTROPHY 


GENETIC TESTING - A-1 ANTITRYPSIN 

DEFICIENCY 



Recombine LLC ..................................................... 525 

GENETIC TESTING - ANGELMAN SYNDROME 




Laboratories........................................................ 711 



MRC-Holland ....................................................... 1122 

GENETIC TESTING - APOE GENOTYPING FOR 

HYPERLIPIDEMIA 


GENETIC TESTING - BREAST & OVARIAN 


MRC-Holland ....................................................... 1122 



GENETIC TESTING - CANAVAN DISEASE 




Laboratories........................................................ 711 

MRC-Holland ....................................................... 1122 


Recombine LLC ..................................................... 525 

GENETIC TESTING - CHARCOT-MARIE-TOOTH 



Laboratories........................................................ 711 


MRC-Holland ....................................................... 1122 


GENETIC TESTING - CYSTIC FIBROSIS 





Laboratories........................................................ 711 

PRODUCT INDEX




MRC-Holland ....................................................... 1122 

Natera .................................................................... 504 


Recombine LLC ..................................................... 525 


GENETIC TESTING - DUCHENNE MUSCULAR 

DYSTROPHY 




MRC-Holland ....................................................... 1122 

GENETIC TESTING - FACTOR V MUTATION 




Recombine LLC ..................................................... 525 


GENETIC TESTING - FAP, DIRECT 





GENETIC TESTING - FRAGILE X 



ASURAGEN, INC. .................................................. 503 




Natera .................................................................... 504 

Recombine LLC ..................................................... 525 


GENETIC TESTING - GAUCHER DISEASE 




Laboratories........................................................ 711 


Recombine LLC ..................................................... 525 

GENETIC TESTING - GENERAL 






GeneDx ................................................................ 1119 

Genzyme, a Sanofi Company ................................ 901 



MRC-Holland ....................................................... 1122 

NextGxDx .............................................................. 411 

Recombine LLC ..................................................... 525 




The University of Chicago Genetic Services ......... 409 

GENETIC TESTING, GENERAL, INFORMATION 

RESOURCE 

GeneTests ............................................................ 1413 

GENETIC TESTING - GILBERT SYNDROME 

Recombine LLC ..................................................... 525 

GENETIC TESTING - HEMOCHROMATOSIS 



MRC-Holland ....................................................... 1122 

Recombine LLC ..................................................... 525 


GENETIC TESTING - HEMOPHILIAS 


MRC-Holland ....................................................... 1122 

Recombine LLC ..................................................... 525 

GENETIC TESTING - HNPCC, DIRECT 




MRC-Holland ....................................................... 1122 


GENETIC TESTING - HNPCC-MS.I 



Laboratories........................................................ 711 


GENETIC TESTING INSTRUMENTATION - 

ATM GENE 

Illumina, Inc. ........................................................ 1109 


BREAST CANCER 

Illumina, Inc. ........................................................ 1109 

SciGene ................................................................. 619 


CYSTIC FIBROSIS 

Illumina, Inc. ........................................................ 1109 

SciGene ................................................................. 619 


GAUCHER DISEASE 


Illumina, Inc. ........................................................ 1109


LOSS OF HETEROZYGOSITY 

Illumina, Inc. ........................................................ 1109 


MUSCULAR DYSTROPHY 

Illumina, Inc. ........................................................ 1109 

GENETIC TESTING - LISSENCEPHALY 

SYNDROME 

MRC-Holland ....................................................... 1122 


GENETIC TESTING - NEUROFIBROMATOSIS 1, 

DIRECT 




Laboratories........................................................ 711 

MRC-Holland ....................................................... 1122 

UAB Medical Genomics Laboratory ...................... 320 

GENETIC TESTING - PRADER WILLIE 

SYNDROME 




Laboratories........................................................ 711 



MRC-Holland ....................................................... 1122 

GENETIC TESTING - PROTHROMBIN (FACTOR II) 

MUTATION 



Recombine LLC ..................................................... 525 

GENETIC TESTING RESOURCE 

NextGxDx .............................................................. 411 

GENETIC TESTING - RETT SYNDROME 





Laboratories........................................................ 711 


GeneDx ................................................................ 1119 


MRC-Holland ....................................................... 1122 

GENETIC TESTING - SPINOCEREBELLAR 

ATAXIA 1 


MRC-Holland ....................................................... 1122 

GENETIC TESTING - TAY SACHS 





MRC-Holland ....................................................... 1122 


Recombine LLC ..................................................... 525 

GENETIC TESTING - TELOMERE DELETIONS & 

REARRANGEMENTS 


GeneDx ................................................................ 1119 

MRC-Holland ....................................................... 1122 

GENETIC VARIATION SCREENING SERVICES 




Genformatic ......................................................... 1420 

Innopsys ................................................................ 805 


RUCDR ................................................................ 1102 

GENE TRANSFER DEVICE 

Bio-Rad ................................................................. 524 

GENE TRANSFER EQUIPMENT 

Bio-Rad ................................................................. 524 

GENOMATIX SOFTWARE INC. 

Genomatix Software .............................................. 425 

GENOME VIEWER 


GENOMIC ANALYSIS REAGENTS 



Illumina, Inc. ........................................................ 1109 





SciGene ................................................................. 619 

Sequenom, Inc. ..................................................... 519 


GENOMIC DNAS 



ASURAGEN, INC. .................................................. 503 


Gene Link, Inc ....................................................... 627 

IntegenX Inc. ....................................................... 1311 


QIAGEN Inc. ........................................................ 1001 


SeqWright, Inc. ...................................................... 726 

GENOMIC PURIFICATION 



PRODUCT INDEX


BioReliance ........................................................... 604 


Gene Link, Inc ....................................................... 627 

IntegenX Inc. ....................................................... 1311 



SeqWright, Inc. ...................................................... 726 

GENOMIC PURIFICATION (DNA) 


AutoGen, Inc. ........................................................ 807 

BioReliance ........................................................... 604 


Diagenode Inc ....................................................... 406 

DNA Genotek ........................................................ 900 




Gene Link, Inc ....................................................... 627 

IntegenX Inc. ....................................................... 1311 

QIAGEN Inc. ........................................................ 1001 


SciGene ................................................................. 619 

SeqWright, Inc. ...................................................... 726 

Tecan ..................................................................... 405 

trinean .................................................................. 1605 


GENOTYPING PRODUCTS 





DNA Genotek ........................................................ 900 

Fluidigm Corporation ............................................. 725 


Illumina, Inc. ........................................................ 1109 


Innopsys ................................................................ 805 

IntegenX Inc. ....................................................... 1311 




QIAGEN Inc. ........................................................ 1001 



Sequenom, Inc. ..................................................... 519 

GENOTYPING SERVICES 



BGI ...................................................................... 1419 

BioReliance ........................................................... 604 




Illumina, Inc. ........................................................ 1109 




QIAGEN Inc. ........................................................ 1001 

Recombine LLC ..................................................... 525 

RUCDR ................................................................ 1102 

SeqWright, Inc. ...................................................... 726 


GENOTYPING SERVICES ‘FREE GENOTYPING’ 


GWAS AND COPY NUMBER/LOH ANALYSIS 

EpigenDx ............................................................... 721 

GWAS GENOTYPING 


HARVESTER SYSTEMS 


Scientific, Inc. ..................................................... 402 

HEATBLOCKS 

SciGene ................................................................. 619 

HEMOCHROMATOSIS 


HIGH RESOLUTION MELTING ANALYSIS 

SYSTEMS 


HIGH RESOLUTION MELTING REAGENTS, 

MASTER MIXES 


HIGH RESOLUTION MELTING SOFTWARE 


HIGH-THROUGHPUT PRODUCTION 

Embi Tec .............................................................. 1406 


Illumina, Inc. ........................................................ 1109 

IntegenX Inc. ....................................................... 1311 


Labcyte Inc. ......................................................... 1402 


QIAGEN Inc. ........................................................ 1001 

RUCDR ................................................................ 1102 

SciGene ................................................................. 619 

trinean .................................................................. 1605 

HLA NEXT-GENERATION SEQUENCING 

ANALYSIS 


HYBRIDIZATION INCUBATORS 

SciGene ................................................................. 619 

HYBRIDIZATION REAGENTS 

Phalanx Biotech Group ......................................... 307

IDENTIFICATION 


DNA Genotek ........................................................ 900 

IntegenX Inc. ....................................................... 1311 

IHC INSTRUMENTATION 


IMAGE ANALYZER 




IMAGING PRODUCTS 




Embi Tec .............................................................. 1406 

Incom, Inc. ........................................................... 1300 

Innopsys ................................................................ 805 



IMMUNOASSAYS 



Diagenode Inc ....................................................... 406 


QIAGEN Inc. ........................................................ 1001 

IMMUNOCHEMICALS 


SurModics ........................................................... 1006 

IMMUNOHISTOCHEMISTRY 



MetaSystems ....................................................... 1303 

SurModics ........................................................... 1006 

IMMUNOMAGNETIC BEADS 

Diagenode Inc ....................................................... 406 

INBORN ERRORS OF METABOLISM 






INCUBATORS 

SciGene ................................................................. 619 

IND ADVICE AND PRODUCT DEVELOPMENT 

PLANNING 


INFECTIOUS DISEASE ANTIGENS 

SurModics ........................................................... 1006 


INFERTILITY - DELETION Y DNA ANALYSIS 


Innopsys ................................................................ 805 

Natera .................................................................... 504 

INFERTILITY TREATMENT 

Natera .................................................................... 504 

INFORMATION ABOUT RESEARCH FUNDING 

OPPORTUNITIES 

CIHR Institute of Genetics ................................... 1321 

INFORMATION RESOURCE 

GeneTests ............................................................ 1413 

NextGxDx .............................................................. 411 



Institute ............................................................... 218 




INHIBIN 


IN SITU HYBRIDIZATION ANALYSES 

BioReliance ........................................................... 604 


MetaSystems ....................................................... 1303 

IN SITU INSTRUMENTATION 

IntegenX Inc. ....................................................... 1311 


SciGene ................................................................. 619 

Tecan ..................................................................... 405 

INSTITUTIONAL & NOT-FOR-PROFIT EXHIBITORS 


Science/AAAS ..................................................... 1312 


INTERNET-BASED INFORMATION RESOURCE 


GeneTests ............................................................ 1413 


NextGxDx .............................................................. 411 


Pubget, Inc. ......................................................... 1520 




INTERPRETATION OF MEDICAL AND HEALTH 

IMPLICATIONS OF SNPS, INDELS, CNVS AND 

OTHER VARIANTS 

Genformatic ......................................................... 1420 

IN VIVO - ELECTROPORATION 


PRODUCT INDEX


ISOLATION KITS 



Exiqon ................................................................. 1712 



QIAGEN Inc. ........................................................ 1001 


LAB AUTOMATION AND LIQUID HANDLING 


LABELED STREPTAVIDIN 


LABELS 


LABORATORY ANALYSIS SERVICES 






RUCDR ................................................................ 1102 

STARLIMS ........................................................... 1400 

LABORATORY ANIMALS 


LABORATORY DISPOSABLES 

Diagenode Inc ....................................................... 406 

LABORATORY - GENETIC TESTING & SERVICES 



ASURAGEN, INC. .................................................. 503 





Diagenode Inc ....................................................... 406 

DNA Genotek ........................................................ 900 



Gene Link, Inc ....................................................... 627 

Genformatic ......................................................... 1420 






Natera .................................................................... 504 




RUCDR ................................................................ 1102 

SeqWright, Inc. ...................................................... 726 


STARLIMS ........................................................... 1400 


UAB Medical Genomics Laboratory ...................... 320 


LABORATORY INFORMATION MANAGEMENT 

SYSTEM 


LASER CAPTURE MICRODISSECTION 



LIBRARY SCREENING SERVICES 



LIQUID CULTURE MEDIA 


LIQUID HANDLING EQUIPMENT 

Embi Tec .............................................................. 1406 

Hamilton Company .............................................. 1613 

Labcyte Inc. ......................................................... 1402 

SciGene ................................................................. 619 

Tecan ..................................................................... 405 

LNA 

Exiqon ................................................................. 1712 

LONG NON-CODING RNA EXPRESSION 

PROFILING 

NXT-Dx ................................................................ 1025 

LUCIFERASE-BASED REPORTER PLASMIDS 


LUMINOMETER 

Tecan ..................................................................... 405 

LYSOSOMAL STORAGE DISEASES 







MACHINE LEARNING 



MAGNETIC PARTICLES 


MAGNETIC SEPARATORS 


Diagenode Inc ....................................................... 406 

New England Biolabs, Inc. .................................... 904

MAGVIGEN | MAGNETIC NANOPARTICLES FOR 

GENOMIC PURIFICATION 

NVIGEN ............................................................... 1403 

MAPPING TOOLS 


BGI ...................................................................... 1419 



Knome, Inc. ......................................................... 1007 

MASS SPECS 



QIAGEN Inc. ........................................................ 1001 

Sequenom, Inc. ..................................................... 519 

MBD-BASED GENOME-WIDE METHYLATION 

SEQUENCING 

NXT-Dx ................................................................ 1025 

MEDIA 


Pubget, Inc. ......................................................... 1520 

MEDICAL JOURNALS 

JMG (BMJ Group) ............................................... 1103 

MEETING MANAGEMENT SERVICES 

FASEB ................................................................. 1700 

MEETINGS AND COURSES 


METABOLIC STUDIES 



METHYLATION PCR 

ASURAGEN, INC. .................................................. 503 

METHYLOME SEQUENCING 


M-FISH 



MetaSystems ....................................................... 1303 

MICROARRAY ANALYSIS SOFTWARE 


MICROARRAY BIOCHIP ANALYSIS 




Laboratories........................................................ 711 






Innopsys ................................................................ 805 




MICROARRAY CHAMBERS AND CASSETTES 

SciGene ................................................................. 619 

MICROARRAY DATA MANAGEMENT SYSTEMS - 

DATABASE 





Cartagenia ........................................................... 1022 



MICROARRAYERS 


MICROARRAY REAGENTS 





Illumina, Inc. ........................................................ 1109 



QIAGEN Inc. ........................................................ 1001 



SurModics ........................................................... 1006 

MICROARRAY SCANNERS 



Illumina, Inc. ........................................................ 1109 

Innopsys ................................................................ 805 


Tecan ..................................................................... 405 

MICROARRAY SLIDES 



Incom, Inc. ........................................................... 1300 




Sony DADC ......................................................... 1411 

SurModics ........................................................... 1006 

MICRODELETION SYNDROME PROBES 


MRC-Holland ....................................................... 1122 

MICRODISSECTION 


PRODUCT INDEX


MICROFLUIDICS 


MICROPLATE FLUORESCENCE POLARIZATION 

READER 

Tecan ..................................................................... 405 

MICROPLATE READERS & WASHERS 

Tecan ..................................................................... 405 

trinean .................................................................. 1605 

MICROPLATES 

Incom, Inc. ........................................................... 1300 

Sony DADC ......................................................... 1411 

trinean .................................................................. 1605 

MICROPLATE WASHERS 

Tecan ..................................................................... 405 

MICRORNA 

Exiqon ................................................................. 1712 

MICRORNA ANALYSIS 


MICRORNA MICROARRAYS 


MICRORNA SERVICE 


MICROSCOPES 


MetaSystems ....................................................... 1303 

MINI-PREPS - 96 WELL 

QIAGEN Inc. ........................................................ 1001 

MIRNA EXPRESSION PROFILING 

NXT-Dx ................................................................ 1025 

MITOCHONDRIAL DNA MUTATION TESTING 


Laboratories........................................................ 711 

BioReliance ........................................................... 604 


GeneDx ................................................................ 1119 


MRC-Holland ....................................................... 1122 


MLPA ANALYSIS 


MOLECULAR BEACONS 

Gene Link, Inc ....................................................... 627 

MOLECULAR BEACON SYNTHESIS 

Gene Link, Inc ....................................................... 627 

MOLECULAR BIOLOGY REAGENTS 



ASURAGEN, INC. .................................................. 503 



EdgeBio ............................................................... 1506 


Gene Link, Inc ....................................................... 627 

Gene Tools, LLC .................................................. 1401 







MOLECULAR DIAGNOSTICS 


MOLECULAR INFECTIONS DISEASE TESTING 


MOLECULAR MODELING SOFTWARE 


MOUSE MODELS 


mRNA ISOLATION 

Bio-Rad ................................................................. 524 

BioReliance ........................................................... 604 


Exiqon ................................................................. 1712 



QIAGEN Inc. ........................................................ 1001 


SeqWright, Inc. ...................................................... 726 


mRNA PURIFICATION KIT 


Bio-Rad ................................................................. 524 



Gene Link, Inc ....................................................... 627 

Tecan ..................................................................... 405 


MUTATION DETECTION 


ASURAGEN, INC. .................................................. 503 

Bio-Rad ................................................................. 524 





Illumina, Inc. ........................................................ 1109



MRC-Holland ....................................................... 1122 









MUTATION INTERPRETATION 


MYCOPLASMA DETECTION SYSTEMS 

RUCDR ................................................................ 1102 

NDAR FEDERATION 


NEUROGENETIC TESTING SERVICES 



GeneDx ................................................................ 1119 


NEUROLOGICAL TESTING SERVICES 


NEW TECHNOLOGY REVIEWS 

Science/AAAS ..................................................... 1312 

NEXT-GENERATION SEQUENCING 

SeqWright, Inc. ...................................................... 726 

NEXT-GENERATION SEQUENCING ANALYSIS 


NEXT GENERATION SEQUENCING ANALYSIS 


NEXT-GENERATION SEQUENCING ANALYSIS 

SOFTWARE 


NEXT-GENERATION SEQUENCING LIBRARY 

PREPARATION 


NEXTGEN SEQUENCING SAMPLE PREP 


NGS DATA ANALYSIS 



NGS SOFTWARE 


NONCODING RNA 

Exiqon ................................................................. 1712 

NONINVASIVE PRENATAL TESTING 


NONISOTOPIC REAGENTS 

Gene Link, Inc ....................................................... 627 

NONRADIOACTIVE LABELING PRODUCTS 

Gene Link, Inc ....................................................... 627 

NON-UV LIGHT BOX 

Embi Tec .............................................................. 1406 

NUCLEIC ACID ISOLATIONS 



EdgeBio ............................................................... 1506 


Gene Link, Inc ....................................................... 627 





RUCDR ................................................................ 1102 

SeqWright, Inc. ...................................................... 726 


NUCLEIC ACID KITS 


EdgeBio ............................................................... 1506 

Gene Link, Inc ....................................................... 627 

IntegenX Inc. ....................................................... 1311 





NUCLEIC ACID PURIFICATION 


AutoGen, Inc. ........................................................ 807 


DNA Genotek ........................................................ 900 

EdgeBio ............................................................... 1506 


Gene Link, Inc ....................................................... 627 



QIAGEN Inc. ........................................................ 1001 

SeqWright, Inc. ...................................................... 726 

Tecan ..................................................................... 405 

trinean .................................................................. 1605 


PRODUCT INDEX


NUCLEIC ACID QUANTITATION KITS 


ASURAGEN, INC. .................................................. 503 



NUCLEIC ACID STABILIZATION REAGENTS 

DNA Genotek ........................................................ 900 

IntegenX Inc. ....................................................... 1311 


OEM MANUFACTURING 

ASURAGEN, INC. .................................................. 503 







OLIGO ANNEALING 

Gene Link, Inc ....................................................... 627 

SeqWright, Inc. ...................................................... 726 

OLIGONUCLEOTIDE PURIFICATION 


Gene Link, Inc ....................................................... 627 


trinean .................................................................. 1605 


OLIGONUCLEOTIDES 


Bio-Rad ................................................................. 524 

Exiqon ................................................................. 1712 

Gene Link, Inc ....................................................... 627 

Gene Tools, LLC .................................................. 1401 




ONCOLOGY CLINICAL TRIALS 


ONCOLOGY DIAGNOSTIC TOOLS 


ONCOLOGY PRECLINICAL TRIALS 


OVENS 

SciGene ................................................................. 619 

PCR ENZYMES 





Kapa Biosystems Inc ........................................... 1512 




PCR PLASTICS 

EdgeBio ............................................................... 1506 


PCR/PRIMER DESIGN SOFTWARE 


PCR PURIFICATION - 96 WELL 


EdgeBio ............................................................... 1506 


RUCDR ................................................................ 1102 

SeqWright, Inc. ...................................................... 726 

Tecan ..................................................................... 405 



PCR-RELATED PRODUCTS 




ASURAGEN, INC. .................................................. 503 




Diagenode Inc ....................................................... 406 

EdgeBio ............................................................... 1506 

Embi Tec .............................................................. 1406 

Exiqon ................................................................. 1712 


Illumina, Inc. ........................................................ 1109 

Incom, Inc. ........................................................... 1300 

IntegenX Inc. ....................................................... 1311 

Labcyte Inc. ......................................................... 1402 



Streck .................................................................. 1600 



PEDIGREE DRAWING SOFTWARE 


PEPTIDE ANTIBODIES 


Diagenode Inc ....................................................... 406 


NVIGEN ............................................................... 1403 

PEPTIDES (CUSTOM) 



PEPTIDE SYNTHESIS REAGENTS 

AnaSpec Inc, Eurogentec Group ......................... 1100

PHARMACEUTICALS 



Rare Disease Therapeutics, Inc. ............................ 419 


PHARMACOGENETIC TESTING SERVICES 



Laboratories........................................................ 711 

BioReliance ........................................................... 604 



Genformatic ......................................................... 1420 

PHARMACOGENOMIC SERVICES 

SeqWright, Inc. ...................................................... 726 

PHENOTYPE MAPPING 



PHOTOGRAPHIC EQUIPMENT 

Embi Tec .............................................................. 1406 

PIPETTES 


PK/ADME 


PLASMID PURIFICATION 


AutoGen, Inc. ........................................................ 807 

EdgeBio ............................................................... 1506 

SeqWright, Inc. ...................................................... 726 

trinean .................................................................. 1605 



PLASTIC LABORATORY WARE 

SciGene ................................................................. 619 

POLYMORPHIC GENETIC MARKERS 


PRECAST ACRYLAMIDE GELS 

Embi Tec .............................................................. 1406 

PRECAST AGAROSE GELS 

Embi Tec .............................................................. 1406 


PRENATAL INTERPRETIVE SOFTWARE 

Genformatic ......................................................... 1420 

PRIMERS 


ASURAGEN, INC. .................................................. 503 

Exiqon ................................................................. 1712 




PROBES 



Exiqon ................................................................. 1712 

Gene Link, Inc ....................................................... 627 


MetaSystems ....................................................... 1303 

MRC-Holland ....................................................... 1122 



PROBES - CANCER 


Exiqon ................................................................. 1712 

MRC-Holland ....................................................... 1122 




PROTEIN DETECTION 

Innopsys ................................................................ 805 

NVIGEN ............................................................... 1403 

PROTEIN EXPRESSION KIT 


PROTEIN PURIFICATION 


NVIGEN ............................................................... 1403 

Tecan ..................................................................... 405 

trinean .................................................................. 1605 


PROTEIN SEQUENCE ANALYSIS SOFTWARE 

Knome, Inc. ......................................................... 1007 

PROTEOMIC SERVICES 

BGI ...................................................................... 1419 

PUBLICATIONS 

JMG (BMJ Group) ............................................... 1103 

PUBLISHER 

Science/AAAS ..................................................... 1312 

PUBLISHING 

JMG (BMJ Group) ............................................... 1103 

PURIFICATION SYSTEMS 

SciGene ................................................................. 619 

qPCR ANALYSIS SOFTWARE 


qPCR PROBES 



PRODUCT INDEX


Exiqon ................................................................. 1712 

Illumina, Inc. ........................................................ 1109 




QUALITY CONTROL SOFTWARE 



GeneInsight ......................................................... 1224 



QUANTITATIVE EXPRESSION ANALYSIS 



BioReliance ........................................................... 604 

Exiqon ................................................................. 1712 




Sequenom, Inc. ..................................................... 519 

SeqWright, Inc. ...................................................... 726 


QUANTITATIVE PCR ANALYSIS SYSTEM 


ASURAGEN, INC. .................................................. 503 

Exiqon ................................................................. 1712 






QUENCHER 



REAGENTS 



ASURAGEN, INC. .................................................. 503 




Diagenode Inc ....................................................... 406 

Exiqon ................................................................. 1712 

Gene Tools, LLC .................................................. 1401 



IntegenX Inc. ....................................................... 1311 




NVIGEN ............................................................... 1403 




REFERENCE LABORATORY TESTING 







REPORTER ASSAYS 


RESEARCH DATABASE 






Pubget, Inc. ......................................................... 1520 




RESEARCH GRANTS & FELLOWSHIPS 


CIHR Institute of Genetics ................................... 1321 

RETROVIRAL EXPRESSION SYSTEM 


RISK ASSESSMENT 


RNA 


BioReliance ........................................................... 604 


DNA Genotek ........................................................ 900 

Exiqon ................................................................. 1712 


Illumina, Inc. ........................................................ 1109 






RNA/DNA/PROTEIN PURIFICATION FROM THE 

SAME SAMPLE 

Norgen Biotek Corp............................................... 208 

RNA ISOLATION 

Bio-Rad ................................................................. 524 

BioReliance ........................................................... 604 



Exiqon ................................................................. 1712 




NVIGEN ............................................................... 1403




RNA ISOLATION KITS 

AutoGen, Inc. ........................................................ 807 


Bio-Rad ................................................................. 524 


Diagenode Inc ....................................................... 406 

Exiqon ................................................................. 1712 




RNA MARKERS 



RNA/MICRORNA PURIFICATION KITS 


RNA PURIFICATION 


BioReliance ........................................................... 604 



NVIGEN ............................................................... 1403 

trinean .................................................................. 1605 


RNA PURIFICATION KITS 



AutoGen, Inc. ........................................................ 807 

NVIGEN ............................................................... 1403 



RNA-SEQ SAMPLE PREP KITS 


RNA SEQUENCING 

NXT-Dx ................................................................ 1025 

RNA SYNTHESIS PRODUCTS 


Exiqon ................................................................. 1712 

IntegenX Inc. ....................................................... 1311 


ROBOTIC ARRAYING SYSTEMS 

Labcyte Inc. ......................................................... 1402 

ROBOTIC COLONY PICKERS 


ROBOTIC SAMPLE PROCESSORS 


Diagenode Inc ....................................................... 406 



IntegenX Inc. ....................................................... 1311 


SciGene ................................................................. 619 

Tecan ..................................................................... 405 

ROBOTIC SUPPLIES 

Tecan ..................................................................... 405 

ROBOTIC WORKSTATIONS 




Diagenode Inc ....................................................... 406 



SciGene ................................................................. 619 

Tecan ..................................................................... 405 

trinean .................................................................. 1605 

RT-PCR KITS 


ASURAGEN, INC. .................................................. 503 




Exiqon ................................................................. 1712 

Illumina, Inc. ........................................................ 1109 







SALIVA DNA COLLECTION KITS 


SALIVA DNA PURIFICATION KITS 


SAMPLE ARCHIVING 

DNA Genotek ........................................................ 900 


IntegenX Inc. ....................................................... 1311 

SAMPLE INVENTORY MANAGEMENT 

SOLUTIONS 


IntegenX Inc. ....................................................... 1311 


SAMPLE PREPARATION 



Covaris Inc. ......................................................... 1008 

Diagenode Inc ....................................................... 406 

DNA Genotek ........................................................ 900 



PRODUCT INDEX


IntegenX Inc. ....................................................... 1311 








SciGene ................................................................. 619 

Tecan ..................................................................... 405 

trinean .................................................................. 1605 


SCIENTIFIC ASSOCIATION 

Science/AAAS ..................................................... 1312 

SCREENING TESTS 


BioReliance ........................................................... 604 


MRC-Holland ....................................................... 1122 


SEQUENCE ALIGNMENT AND VARIANT 

CALLING 

Genformatic ......................................................... 1420 

SEQUENCE ANALYSIS SOFTWARE 


Cartagenia ........................................................... 1022 

CLC bio ................................................................. 501 

DNASTAR, Inc. ...................................................... 801 

EdgeBio ............................................................... 1506 


Genformatic ......................................................... 1420 


Illumina, Inc. ........................................................ 1109 




Knome, Inc. ......................................................... 1007 








SEQUENCING ACCESSORIES 

Diagenode Inc ....................................................... 406 

EdgeBio ............................................................... 1506 


Illumina, Inc. ........................................................ 1109 

IntegenX Inc. ....................................................... 1311 



SEQUENCING BUFFERS 

EdgeBio ............................................................... 1506 



SEQUENCING QC FOR PRIMERS 


SEQUENCING SERVICES 



Laboratories........................................................ 711 

BGI ...................................................................... 1419 

BioReliance ........................................................... 604 


Complete Genomics, Inc. ...................................... 907 

EdgeBio ............................................................... 1506 



GeneDx ................................................................ 1119 

Genformatic ......................................................... 1420 

Illumina, Inc. ........................................................ 1109 

Knome, Inc. ......................................................... 1007 




RUCDR ................................................................ 1102 

SeqWright, Inc. ...................................................... 726 



SERUM 

Exiqon ................................................................. 1712 

SIGNAL AMPLIFICATION 

Natera .................................................................... 504 

SNP ANALYTICAL SERVICES 


BioReliance ........................................................... 604 

EdgeBio ............................................................... 1506 


Genformatic ......................................................... 1420 


Knome, Inc. ......................................................... 1007 



RUCDR ................................................................ 1102 

SeqWright, Inc. ...................................................... 726 




SNP DETECTION PROBES 


Natera .................................................................... 504

SNP GENOTYPING ANALYSIS 

EpigenDx ............................................................... 721 

SNP SCORING 

BioReliance ........................................................... 604 



SNP SCREENING 





Genformatic ......................................................... 1420 





SOCIETY 

European Human Genetics Conference 2013 ....... 219 

SOFTWARE 



CLC bio ................................................................. 501 


DNAnexus, Inc. ...................................................... 507 

DNASTAR, Inc. ...................................................... 801 


GeneInsight ......................................................... 1224 

Genformatic ......................................................... 1420 



GenoLogics ......................................................... 1105 





Knome, Inc. ......................................................... 1007 


National Center for Biotechnology Information ..... 224 

NextGxDx .............................................................. 411 






Institute ............................................................... 218 





STARLIMS ........................................................... 1400 

SOFTWARE AND DATABASE TOOLS FOR 

VARIANT TRIAGE AND LAB REPORTING 

AUTOMATION 

Cartagenia ........................................................... 1022 


SOFTWARE - ARRAY ANALYSIS 






Cartagenia ........................................................... 1022 

DNASTAR, Inc. ...................................................... 801 







SOFTWARE - DATA MANAGING 





Cartagenia ........................................................... 1022 

CLC bio ................................................................. 501 


GeneInsight ......................................................... 1224 

Genformatic ......................................................... 1420 

GenoLogics ......................................................... 1105 






STARLIMS ........................................................... 1400 

SOFTWARE - PEDIGREE DRAWING 



SOLID PHASE EXTRACTION 


SONICATORS & ACCESSORIES 

Diagenode Inc ....................................................... 406 

SPECTROPHOTOMETER 

trinean .................................................................. 1605 

SPIN COLUMNS 


STATISTICAL GENETICS CONSULTATION 


STORAGE PRODUCTS 

DNA Genotek ........................................................ 900 

EMC Isilon ........................................................... 1320 

SYRINGES 


PRODUCT INDEX


TARGET ENRICHMENT KITS 


TELOMERE SPECIFIC PROBES 


MRC-Holland ....................................................... 1122 

TEMPLATE PREPARATION KITS 


TEST KITS 




THERMAL CYCLERS 


Bio-Rad ................................................................. 524 


SciGene ................................................................. 619 

Streck .................................................................. 1600 

THERMAL PLATE SEALER 

Bio-Rad ................................................................. 524 

THERMAL PROFILING SYSTEMS 

SciGene ................................................................. 619 

THERMOSTABLE DNA POLYMERASE 




TISSUE CULTURE MEDIA 


TISSUE CULTURES 

BioReliance ........................................................... 604 

TISSUE MICROSCOPY 


TOXICITY TESTS 



TRAINING 



TRAINING COURSES 



TRANSCRIPTION REAGENTS 


TRANSCRIPTOME 


TRANSFECTION REAGENTS 




TRAVEL AWARDS 

FASEB ................................................................. 1700 

TRISOMY DETECTION 


TWIN ZYGOSITY TESTING 


ULTRAVIOLET PRODUCTS - 

TRANSILLUMINATORS 

Embi Tec .............................................................. 1406 

UPD TESTING 


UV/VIS SPECTROPHOTOMETERS 

trinean .................................................................. 1605 

VARIANT ANNOTATION AND PREDICTION 

OF PROBABLE PHENOTYPIC EFFECT OF 

VARIANTS 

Genformatic ......................................................... 1420 

VIDEO CAMERAS (COLOR) FOR MICROSCOPY 


WATER BATHS 

SciGene ................................................................. 619 

WESTERN BLOTTING EQUIPMENT 

Bio-Rad ................................................................. 524 

Tecan ..................................................................... 405 

WESTERN BLOTTING KITS 

Bio-Rad ................................................................. 524 

WHOLE EXOME SEQUENCING 



WHOLE GENOME AND EXOME ANALYSIS 

Genformatic ......................................................... 1420 

WHOLE GENOME SEQUENCING 


YEAST TWO-HYBRID SYSTEMS 

Thermo Scientific................................................... 624

CMEs and CEUs 

Poster Sessions are not eligible for CME or CEU credits 

For questions, contact ashgmeetings@ashg.org. 

CMEs and CEUs 325 

Continuing Medical Education Credits (CMEs) 

The ASHG 2012 Annual Meeting has been planned and implemented in accordance 

with the Essential Areas and policies of the Accreditation Council for Continuing 

Medical Education (ACCME) through the joint sponsorship of the American College 

of Medical Genetics and Genomics (ACMG) and ASHG. ACMG is accredited by 

the ACCME to provide continuing medical education for physicians. All educational 

programming is developed and must be presented in compliance with all 

ACCME accreditation requirements and therefore, ACMG designates this educational 

activity for a maximum of 25.75 AMA PRA Category 1 Credit(s) TM . Physicians 

should only claim credit commensurate with the extent of their participation in the 

activity. 

Procedures: There is a non-refundable $45 fee payable during the registration 

process. You can apply for credits through the online application available 

November 10, 2012. The deadline to submit your request is December 28, 2012. 

Attendees may pick up self-reporting tracking forms in either the ASHG Office, Room 

111 or at the Information Counter located in the Registration Area, North Lobby of 

the Moscone Center. Please see section below for the learning objectives, target 

audience, disclosure policy and a list of authors with disclosures of potential conflicts 

of interest. 

MDs and PhDs should apply for CMEs. The American Board of Medical Genetics 

(ABMG) will accept CMEs for MDs or PhDs participating in the Maintenance of 

Certification (MOC) program in any ABMG specialty. 

Continuing Education Unit Credits (CEUs) for California-Licensed Clinical and 

Molecular Laboratory Directors 

ASHG has been approved for Continuing Education Units for up to 24.5 units through 

the Professional Acknowledgment for Continuing Education (P.A.C.E. ® ) program for 

California-Licensed Clinical and Molecular Laboratory Directors. 


process. Those who registered in advance received an e-mail with instructions and 

a copy of the self-reporting tracking. You may also pick up your CEU packet in the 

ASHG Meeting Office, Room 111. The deadline to submit your request for PACE 

credits is Monday, December 3, 2012. No requests will be taken after this date. 

Clinical Laboratory Scientists should apply for PACE CEUs. ABMG will accept PACE 

CEUs for diplomats participating in the MOC program in the following categories: Clinical 

Biochemical Geneticist, Clinical Cytogeneticist, and Clinical Molecular Geneticist. 

CMEs and CEUs

326 CMEs and CEUs 

Continuing Education Unit Credits (CEUs) for Genetic Counselors 

ASHG has been approved for up to 25.75 Category 1 CEU credits (25 contact hours) 

for genetic counselors through the National Society of Genetic Counselors (NSGC). 

NSGC is approved as an authorized provider of continuing education and training by 

the International Association for Continuing Education and Training (IACET). 


process. Registrants MUST apply for credits via the online submission system 

after the meeting. The submission site will open on Saturday, November 10, 2012. 

The deadline to request credits is Monday, December 3, 2012. No submissions will 

be taken after this deadline. You will need your registration ID in order to successfully 

complete the CEU application. Those who registered in advance received an e-mail 

with instructions and a copy of the tracking form. For your convenience, tracking forms 

will also be available in the ASHG Meeting Office, Room 111 or at the Information 

Center located in the Registration Area, North Lobby. 

Genetic Counselors and Nurses should apply for CEUs. The American Board of 

Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes 

of certification and recertification. 

ASHG 2012 Learning Objectives 

All attendees obtaining CME credits will be able to apply the newly acquired knowledge 

and methods in the evaluation, diagnosis, intervention, treatment and follow-up of patients 

with a variety of disorders. At the completion of the meeting, participants will be able to: (1) 

recognize gaps in knowledge of facts and new methods in genetics; (2) demonstrate ways 

that the new information and its context may be applied in their own practices; (3) better 

interpret results of complex genetic tests and recognize instances of most appropriate 

use; and (4) understand in detail the benefits and potential harms of utilizing the newest 

genetic technologies. The 2012 ASHG Annual Meeting will help attendees to: 

• Identify and fill gaps in knowledge in human genetics in areas of statistical 

analysis, full genome sequencing, next-generation sequencing, genetic 

neurodegenerative and other disorders, and epigenetics. 

• Explain the value and use of newest technological methods in full genome 

sequencing in diagnosis of disorders and family studies. 

• Provide context from discussions on the benefits and harms of returning 

results of full genome sequencing to patients. 

• Set principles for the provision of results and their interpretation in full genome 

sequencing and the diagnosis of genetic risks and explain how genome 

sequencing may be useful in an undiagnosed patient. 

• Accrue guidelines for the successful counseling of patients receiving complex 

genetic results. 

• Present the newest results of gene therapy trials so clinicians may enroll 

patients or apply therapies to appropriate patents. 

• Identify and explain the newest non-invasive pre-natal diagnostic methods. 

• Integrate results of genomic testing into electronic health records and other 

methods to store information.

CMEs and CEUs 327 

• Recognize methods to utilize centralized databases in the diagnosis and 

treatment of patients. 

ASHG 2012 Target Audience 

This meeting is targeted to research scientists, clinical and laboratory practitioners 

and others interested in the field of human genetics and genomics. There is some 

special focus on workshops intended for trainees. The program is varied so that 

participants may select from several concurrent sessions that fit their specialized 

research interests and clinical practice applications. 

Program Format 

Invited Sessions 

The 2012 program is highlighted by 24 invited scientific sessions that have been 

scheduled over three concurrent time periods. The Program Committee reviewed 

95 proposals for invited sessions. The review process took into consideration the 

merit and timeliness of each proposal as well as the need to balance topics in the 

overall scientific program. The sessions highlight a wide range of topics of interest to 

genetics practitioners, researchers and counselors. Any conflicts were managed in 

the process described above. 

Plenary Session Presentations and Platform Sessions (abstract-driven) 

The Plenary Session includes a diverse set of six presentations, selected from the 

top-rated abstracts submitted for this year’s annual meeting as determined by the 

2012 Program Committee. Forty-five abstract-driven platform sessions totaling 

405 oral presentations have been programmed. There are five sets of nine concurrent 

platform sessions. 

The Program Committee had the difficult task of determining which abstracts would 

be accepted, and in what presentation format. Below is a brief description of how this 

task was performed: 

1. Based on the author’s topic preference and keyword selection, an abstract 

was initially reviewed by the Program Committee member responsible for 

that topic. If it was determined that the abstract would be more appropriately 

categorized under another topic, it was transferred to that topic. Sub-topic 

designations were helpful in assigning abstracts to the most appropriate topic. 

2. Each abstract was then electronically sent to three reviewers (including a 

Program Committee member) who are experts in the field. Each reviewer 

scored the abstracts independently and without knowledge of the score given 

by the other reviewers. Abstracts were then assigned a score from 1 (highest 

priority) to 8 (reject). The best cumulative score that an abstract could obtain 

from all three reviewers was a 3 (1+1+1). Any conflicts were managed in the 

process described above. 

3. In general, abstracts receiving scores within the top 8% for each topic were 

selected for platform (oral) presentations. The number of available oral 

CMEs and CEUs

328 CMEs and CEUs 

presentations for a given topic was in rough proportion to the number of 

abstracts submitted for that topic, with some discretion given to the Program 

Committee to adjust for the quality of abstracts in each topic in a given year. 

This created a total number of 411 oral presentations. 

4. The top scoring abstracts from each topic were then considered by the 

Program Committee for possible inclusion in the plenary session. Selection of 

plenary session presentations was based not only on the cumulative scores, 

but also on the impact of the science being presented and the balance of 

topics in the session. Six abstracts were finally chosen to constitute the 

plenary session in recognition of the speed at which new, high-impact scientific 

discoveries are now being made in human genetics. 

5. The concurrent platform sessions were then assembled from the remaining 

405 abstracts chosen for oral presentations (step 3 above, minus the 6 plenary 

abstracts). Within the constraints that each concurrent session has exactly 

nine abstracts, these platform sessions typically contain abstracts grouped 

by topic/approach. Some of the platform sessions are “multidisciplinary” 

sessions centered around a topic and are designed to bring together 

investigators interested in that topic from diverse areas of genetics. 

RECORDED PRESENTATIONS AVAILABLE AFTER THE MEETING 

Invited Sessions, Award Presentations, and the Plenary Sessions will be 

recorded and posted on the Web site after the meeting. 

These recordings are free to meeting registrants. 

Visit the ASHG Web site in early December to view these presentations.

SPEAKER AND AUTHOR DISCLOSURES 

In accordance with the Accreditation Council for Continuing Medical Education 

through the joint sponsorship of the American College of Medical Genetics and 

Genomics (ACMG) and ASHG, all faculty, speakers and moderators must disclose 

the existence of any financial interest and/or other relationship(s) they might have with 

the manufacturer(s) or provider(s) of any commercial product(s) or service(s) to be 

discussed during their presentation: receiving a salary, royalty, intellectual property 

rights, consulting fee, honoraria, ownership interest (e.g., stocks, stock options or 

other ownership interest, excluding diversified mutual funds), or other financial benefit. 

Financial benefits are usually associated with roles such as employment, management 

position, independent contractor (including contracted research), consulting, 

speaking and teaching, membership on advisory committees or review panels, board 

membership, and other activities for which remuneration is received or expected. 

If members of the ASHG 2012 Program Committee indicated a relationship which 

could be perceived by some as a real or apparent conflict of interest in planning the 

program, the committee member refrained from discussion. The following presenters 

have indicated a relationship that within the context of their presentation could be 

perceived by some as a real or apparent conflict of interest but do not consider that 

it will influence their presentation. The disclosures have been reviewed and conflict of 

interest resolved or managed. The number following each company name represents 

the specific relationship from the list below. 

1. Stock options or bond holdings in a for-profit corporation or self-directed pension plan 

2. Research grants, other grants, scholarships, or fellowships 

3. Employment (full or part-time) 

4. Ownership or partnership 

5. Consulting fees or other remuneration 

6. Non-remunerative positions of influence such as officer, board member, trustee, 

or public spokesperson 

7. Receipt of royalties 

8. Speakers' bureau 

9. Receive substantial in-kind or donated goods or services 

10. Inventor/patent owner 

11. Advisor 

12. Collaboration 

13. Company owner 

14. Receipt of travel grants/honoraria 

15. Other 

• If a presentation is in a platform session, the abstract number is added in 

parentheses. 

• If a presenter or organizer is not listed, then that person had no relationship to 

disclose. 

• Disclosures will also be included in presentation slides. 

329 

SPEAKER/AUTHOR DISCLOSURES

330 SPEAKER AND AUTHOR DISCLOSURES 

Abecasis, G., University of Michigan/ArticDx - 7; 

GlaxoSmithKline - 2 (Session 7) 

Ahmed, A., Genzyme Corporation - 2 (715) 

Andersen, M., Life Technologies - 3; 

Life Technologies - 1 (1237) 

Aradhya, S., GeneDx - 3 (332) 

Bachmeyer, R. C., Kailos Genetics Inc. - 1, 3, 4, 6 (3527) 

Bai, R., GeneDx - 3 (330) 

Ballif, B. C., Signature Genomic Laboratories, 

PerkinElmer, Inc., Spokane, - 3 (884) 

Basel-Vanagaite, L., FDNA Ltd., Herzlyia, Israel - 5 (3185) 

Bauer, P., Actelion Pharmaceuticals Ltd - 5 (684) 

Baxter, S., GeneDx - 3 (1676) 

Bergstrom Lucas, A., Agilent Technologies - 3 (3726) 

Berman, J. R., Bio-Rad Laboratories - 3 (3690) 

Bianchi, D., Verinata Health, Inc. - 1, 2, 5, 11, 12; 

McGraw-Hill - 7; Wiley-Blackwell - 3 (Session 79) 

Bibikova, M., Illumina, Inc. - 1, 3 (1238) 

Biesecker, L. G., Wiley Blackwell - 5; Illumina Corp - 6 

(Session 73) 

Billaud, J., Ingenuity Systems - 3 (3677) 

Bishop, J., Life Technologies - 3 (3719) 

Blangero, J., Eli Lilly and Co - 2 (Session 8) 

Bloom, R. J., Agilent Technologies - 9, 12; Pacific 

Biosciences - 9, 12 (3659) 

Bombard, A. T., Sequenom, Inc. - 1, 3; UCSD - 3, 12 

(Session 79) 

Bostick, M., Clontech Laboratories, Inc - 3 (3727) 

Boyar, F. Z., Quest Diagnostics - 3, 10; 

Genomic Vision - 10, 12 (3522) 

Boysen, C., CLC bio - 3 (3528) 

Bready, B., Nabsys - 1, 3, 4, 10, 13 (3529) 

Brown, M. P. S., Pacific Biosciences of California - 

1, 3 (36) 

Brownstein, C. A., Boston Children’s Hospital - 3 (1769) 

Busche, S., WaferGen - 12 (256) 

Carulli, J. P., Biogen Idec - 1, 2, 3, 12 (2561) 

Casanova, J.-L., Sanofi-Aventis - 5, 11; Merck - 5 

(Session 80) 

Casuga, I., Ion Torrent/Life Technologies - 3 (3278) 

Chao, E. C., Ambry Genetics - 3 (2907) 

Cheng, S., Genzyme, a Sanofi Company - 1, 3, 10 

(793) 

Chiabai, M. A., CNPq - 2; FAP-DF - 2 (1202) 

Cho, J. H., Pfizer - 5 (Session 80) 

Chowdry, A. B., 23andMe Inc. - 1, 3 (1620) 

Cipriani, V., Cambridge Enterprise on behalf of 

Cambridge University - 10; UCL business on behalf 

of University College London - 10 (2072) 

Conklin, B., iPierian Inc - 1 (Session 78) 

Conley, Y. P., University of Pittsburgh - 10 (1963) 

Costa, P., Agilent Technologies - 3 (922) 

Dai, X., Academy of Finland - 2; University of 

Helsinki - 3; Chancellor’s Travel Grant - 14 (1265) 

DaRe, J., Transgenomic, Inc. - 1, 3 (688) 

Darnell, R. B., MSKCC (cloning Ri antigen) - 

7 (Session 24) 

Davidson, C., Life Technologies - 3 (3684) 

De La Vega, F., Omicia, Inc. - 1, 3, 5 (1770) 

Delio, M., NIH Grant Support - 2 (1494) 

de Paor, A., Irish Research Council for the Humanities 

& Social Sciences - 2 (1812) 

Dermitzakis, E. T., DNAnexus - 11 (561) 

Dewey, F., Personalis - 5 (1601) 

Dickson, P., BioMarin - 2; Genzyme - 2 (785) 

Durand, E. Y., 23andMe, Inc. - 3 (179) 

Eberle, M. A., Illumina - 1, 3 (942) 

Ehm, M. G., GlaxoSmithKline - 1, 2 (649) 

Eicher, J. D., J.S. Genetics - 1, 4, 7, 10, 11 (1973) 

Elboudwarej, E., Novartis - 5; Genentech - 5; 

Sanofi-Aventis - 5; GlaxoSmithKilne - 5 (3454) 

Erez, A., Neogenis - 12 (165) 

Eriksson, N., 23andMe - 1, 3 (114); Boehringer 

Ingelheim - 12 (619) 

Fagerholm, R., On-Q-ity Inc. - 12 (1171) 

Falk, M. J., United Mitochondrial Disease 

Foundation - 6 (2943) 

Feinerman, B., StemCellRegenMed - 3 (792) 

Francke, U., 23andMe, Inc. - 3 (1782) 

Friedlander, C., Fluidigm Incorp. - 1, 3 (3652) 

Gai, X., Agilent - 12 (3653) 

Gajecka, M., PerkinElmer, Inc., Spokane - 3 (934) 

Ganesh, S. K., Affymetrix - 11; BioGen Idec - 11 (1639) 

Geiss, G., Nanostring Technologies - 1, 3, 10 (1039) 

Germain, D. P., Amicus Therapeutics - 14 (772) 

Gilbert, D., VitaPath Genetics, Inc. - 1, 3 (75) 

Goizet, C., Genzyme - 2, 14; Shire - 14; Actelion - 

14 (716) 

Goker-Alpan, O., Shire HGT - 3, 14, (768) 

Gonzalez, K. D., Ambry Genetics - 3 (3065) 

Green, R. C., 23andMe, Inc. - 9, 12; Pathway 

Genomics Corporation - 12 (1825) 

Guettouche, T., Caliper - 12; Ion Torrent/Life 

Technologies - 14 (3706) 

Gunter, C., Kailos Genetics - 5 (Session 81) 

Hageman, G. S., Sequenom Inc - 5, 11; 

Optherion Inc - 10, 15; shareholder (Session 7) 

Hagerman, P., US Patent Office - 10; Pacific 

Biosciences - 5, 13 (477) 

Hagerman, R., Novartis - 2; Roche - 2; Seaside 

Therapeutics - 2 (770) 

Hart, R. K., Locus Development, Inc. - 1, 3, 4, 10, 13 

(3548) 

Hartshorne, T., Life Technologies - 3 (1146) 

Heckerman, D., Microsoft - 1, 3 (1379) 

Hegde, M., RainDance - 11; GenomeQuest - 11 

(Session 3) 

High, K., BioMarin Pharmaceuticals - 5; Bluebird Bio, 

Inc. - 1, 5; Bristol-Myers Squibb - 5; Elsevier - 7; 

Genzyme, Inc. - 11; INSERM - 15 tool; Jackson 

Laboratories - 15; McGraw Hill - 7; Nordic Biotech - 5; 

Novo Nordisk - 14, ); PTC Therapeutics - 12; 

Sangamo Biosciences|Life Sci (Session 23) 

Hirschhorn, J. N., Pfizer - 2 (Session 2, Session 81) 

Hoffman, J., Good Start Genetics - 2; Genzyme 

Therapeutics - 2 (1729) 

Hogg, G., Sequenom Center for Molecular Medicine - 

3; Sequenom, Inc. - 3 (2973) 

Hoglund, B. N., Roche Molecular Systems - 3 (3713) 

Hollox, E. J., Pfizer - 2 (Session 22) 

Holstege, H., Life Technologies - 12 (494) 

Huang, A., Verinata Health, Inc. - 3 (3007) 

Ibrahim, J., Shire HGT - 3, 14 (769) 

Jacob, H., Primary Genetics - 4 (Session 3) 

Jansen Spayd, K., Kailos Genetics Inc. - 3 (1245) 

Javed, A., Gene Link, Inc - 3 (2631)

Jensen, T. J., Sequenom, Inc. - 1, 3 (3014) 

Jeong, K., Agilent Technologies - 3 (3459) 

Jiang, R., Williams LifeSkills, Inc. - 1, 4 (2481) 

Johnson, F. K., Amicus Therapeutics - 1, 3 (732) 

Joun, D., Life Technologies - 3 (1246) 

Kaper, F., Illumina, Inc. - 3 (596) 

Karczewski, K. J., Personalis - 10 (562) 

Kennedy, C. J., Good Start Genetics - 1, 3, 10 (3640) 

Kitzman, J. O., Univ of Washington - 10 (74) 

Kong, A., deCode Genetics - 3 (Session 75) 

Kormanik, K., Hyperion Therapeutics - 2; NIH - 2 (662) 

Kutalik, Z., GlaxoSmithKline - 12 (1387) 

Laberge, A. M., Fourth Dimension Spine LLC (NYC, 

USA) - 2 (1784) 

Langmore, J. P., Rubicon Genomics, Inc. - 1, 3, (3689) 

Laurance, M., Ingenuity - 3 (3560) 

Lebo, R., USPTO-application - 10 (2972) 

Le Clerc-Blain, J., Cree Board of Health and Social 

Services of James Bay - 14 (1733) 

Ledbetter, D. H., Roche Nimblegen - 5; Celula - 5 

(Session 77) 

Letra, A., NIH - 2 (1936) 

Levy, B., Natera - 1, 5, 11 (73) 

Li, C., Life Technologies - 3 (3714) 

Li, H., The National Natural Science Foundation of 

China 30770106 - 2 (798) 

Li, M., Life Technologies - 14 (399) 

Lih, C.-J., Life Technologies - 12 (1068) 

Lins, T. C. L., CNPq - 2; CAPES - 2; FAP-DF - 14 (3272) 

Liu, P., New England Biolabs - 3 (3715) 

Loomis, E. W., Pacific Biosciences of California, Inc - 

9, 12 (2633) 

Lorget, F., BioMarin - 3, 10; INSERM U781 - 12 (763) 

Luke, M. M., Celera - 3, 4 (1603) 

Luo, M., Mount Sinai School of Medicine - 10 (1777) 

Lyon, E., Novartis - 5; Complete Genomics - 1, 5; 

Oregon Health Sciences - 14; National Society of 

Genetic Counselors - 14; University of Utah/ARUP 

Laboratories- 3; NICHD/NIH- 2; NHGRI/NIH- 2 

(Session 3) 

Madhusoodanan, J., NextBio - 3 (1183) 

Mancini-DiNardo, D., Myriad Genetic Laboratories, 

Inc. - 1, 3 (1021) 

Manokhina, I., Partnership for Clean Competition - 2 

(1760) 

Marques, F. A., CNPq - 2; CAPES - 2; FAP-DF - 14 (1880) 

Martin, C. L., Emory Genetics Laboratory - 3; NIH - 2; 

Simons Foundation - 2 (Session 17, Session 77) 

Martis, S., MRC Holland - 3 (652) 

Marziali, A., Boreal Genomics - 3, 4, 6, 10 (1264) 

Matsunami, N., Lineagen Inc. - 1, 2 (2397) 

McDonald, M. N., NIH - 2; GlaxoSmithKline funded 

ECLIPSE study - 2 (2249) 

McInerney, P., Illumina, Inc. - 1, 3; Epicentre, Inc. 

(an Illumina company) - 3 (3697) 

McKay, G. J., Nutrasight Consultancy Limited - 5 (1897) 

Mehta, G. R., Locus Development - 1, 3, 4, 10, 13 (3692) 

Menashe, I., MindSpec - 3 (446) 

Meredith, G., Life Technologies Corp - 1, 3 (3717) 

Mikula, M., Dept Molecular Genetics, Quest 

Diagnostics Nichols Inst, San - 1, 3 (2260) 

Miyagawa, T., Clinical Trial Operations Division, Site 

Support Institute C - 3 (2656) 

SPEAKER AND AUTHOR DISCLOSURES 331 

Morales, A., Informed Medical Decisions, Inc. - 

5 (1681) 

Moreno, T., Pathway Genomics - 1, 3, 12 (Session 9) 

Morford, L., American Association of Women Dentists - 

2; Southern Association of Orthodontists - 2 (1147) 

Morgan, T., Biomarin - 15; Clinical trial support for all 

but the first author (730) 

Mountain, J., 23andMe, Inc. - 1, 3 (Session 9) 

Mowery-Rushton, P. A., Signature Genomic 

Laboratories, PerkinElmer, Inc., Spokane, - 3 (3101) 

Moya, P. R., F. Hoffmann-La Roche AG - 3 (261) 

Muller, R., Biomatrica - 3 (3720) 

Mullins, M. E., 23andMe, Inc. - 3 (2127) 

Munafo, D., New England Biolabs, Inc - 3 (512) 

Musci, T., Ariosa Diagnostics - 1, 3 (2978) 

Myres, N., AncestryDNA - 3 (3321) 

Neale, B. M., Illumina - 14 (2618) 

Nestrasil, I., Shire HGT - 2, 5 (714) 

Nguyen-Nielsen, M., Edimer Pharmaceuticals 

(MA, USA) - 2 (1565) 

Nicholls, K., GSK - 1, 3, 14; Amicus - 1, 3, 11, 14 (745) 

Niemi, A.-K., United Mitochondrial Disease 

Foundation - 2 (744) 

Nishida, A., JCR Pharmaceuticals - 3 (781) 

Normanno, N., Life Tecnologies - 12 (1060) 

Noto, K., Ancestry.com - 1, 3; AncestryDNA - 1 (3365) 

Nurmi, E. L., BioMarin - 5; Novartis - 5; Seaside 

Therapeutics - 2; Roche - 2 (639) 

Nussbaum, R. L., Complete Genomics - 

1, 5 (Session 77) 

Oeth, P., Sequenom, Inc. - 1; Sequenom Center for 

Molecular Medicine - 3 (3016) 

Oliver, J. S., Nabsys - 1, 3, 4, 10, 13 (3656) 

Ong, F. S., National Institutes of Health - 2; Cedars- 

Sinai Medical Center - 2; Complete Genomics, 

Inc. - 15; Illumina, Inc. - 15; Stock Ownership 

(not stock options as in 1) (130) 

O’Roak, B. J., Yale University - 10 (10) 

Ota, V. K., FAPESP - 2 (2533) 

Pallone, N. L., BioMarin - 2; Nutricia - 2; Vitaflo - 2; 

Mead Johnson - 2 (742) 

Pare, G., Boehringer Ingelheim Pharma Inc. - 2, 5, 8, 

12 (617) 

Patsalis, P., NIPD Genetics Ltd. - 10 (3017) 

Peltekova, V., OICR - 2; CIHR - 2; Ontario Research 

Funds - 2 (1093) 

Peng, Q., QIAGEN - 3 (1263) 

Peng, X., Life Technologies - 3 (3698) 

Perez-Jurado, L. A., qGenomics - 6, 11 (2711) 

Pericak-Vance, M. A., Artic Dx, Inc - 10 (Session 7) 

Peterschmitt, M. J., Genzyme - 3 (773) 

Phelan, M., NuGEN Technologies, Inc. - 1, 3 (3699) 

Porreca, G. J., Good Start Genetics - 1, 3, 10 (3680) 

Potocki, L., Baylor College of Medicine - 3 (Session 28) 

Pour-Jafari, H., Hamadan Univ Med Sci - 3 (860) 

Powers, N. R., JS Genetics, Inc - 4, 7, 10, 11, 13 (2010) 

Rabinowitz, M., Natera, Inc. - 3, 1, 10 (3018) 

Rath, M., Life Technologies Inc. - 3, 10 (532) 

Ray, F. A., KromaTiD Inc. - 1, 3, 4, 10 (948) 

Raz, T., GnuBio - 3 (3700) 

Rehm, H. L., Partners Healthcare - 3; Complete 

Genomics - 11; GenomeQuest - 11; Illumina - 12 

(Session 77) 

SPEAKER/AUTHOR DISCLOSURES

332 SPEAKER AND AUTHOR DISCLOSURES 

Requa, M., BioNano Genomics, Inc - 3 (3649) 

Richard, G., GeneDx - 3 (2579) 

Richards, S., Life Technologies - 15; Receive 

discounted reagents and share data (Session 3) 

Rieder, M. J., Adaptive Biotechnologies - 1, 3 (530) 

Riley-Gillis, B., Hoffmann-La Roche - 3 (1252) 

Roberts, J. S., 23andMe - 12; Pathway Genomics - 12 

(Session 9) 

Rodríguez-Santiago, B., Quantitative Medicine 

Laboratories - 3 (3208) 

Rogan, P. K., Cytognomix - 10 (3672) 

Romano-Silva, M., FAPEMIG: CBB-APQ-00075-09 - 2; 

CNPq 573646/2008-2 - 2 (2385) 

Romero, J. A., Life Technologies - 3 (3708) 

Roos, F., Agilent Technologies - 3 (3685) 

Rosenfeld, J. A., Signature Genomic Laboratories, 

PerkinElmer, Inc. - 3 (274) 

Russell, A., Omicia, Inc. - 1, 3, 4 (3602) 

Ruvolo, M., Agilent Technologies - 3 (975) 

Sá, M. J. N., Harvard Medical School Portugal 

Program - Junior Award - 2; Fundação para a 

Ciência e Tecnologia - 2 (3122) 

Saisanit, S., Roche Pharmaceuticals - 3 (3580) 

Schiffmann, R., Amicus Therapeutics - 2, 3, 5; 

Progrnosys, Biosciences, Inc - 3; Shire Human 

Genetic Therapies - 2, 5 (1684) 

Schmidt, J. L., NIHDS/NIH - 2; American Academy of 

Neurology - 2; BDF Newlife and National Institutes for 

Health Research - 2; USPTO - 3; patent pending (2452) 

Schwartz, S., Laboratory Corporation of America - 3 (949) 

Scott, C. R., Genzyme Corporation - 5 (727) 

Segal, M. M., SimulConsult - 3, 4, 10, 13 (3581) 

Sidow, A., DNAnexus - 1, 5 (397) 

Sikela, J. M., GATC Science LLC - 4, 7, 10, 13 

(Session 22) 

Siklosi, K. R., Cystic Fibrosis Foundation - 2 (1731) 

Smaoui, N., GeneDx - 3 (1765) 

Snyder, M. W., Ariosa Diagnostics - 11; Stratos 

Genomics - 11; Good Start Genetics - 11; Adaptive 

TCR - 11 (94) 

Soler, C. V., CINAPCE Program, Campinas, Brazil - 

12 (2233) 

Song, K., Ariosa Diagnostics - 1, 3 (3020) 

Spritz, R. A., Pfizer - 15; Spouse full-time employee 

of Pfizer, Inc. (Session 80) 

Srinivasan, A., Verinata Health, Inc. - 3 (3021) 

Stuenkel, A. J., Ambry Genetics - 1, 3 (1767) 

Superko, H. R., Celera Corporation, Alameda, CA., - 3; 

Medco Research Institute, LLC/an Express Scripts 

Company, Bethesda, MD - 1, 3; Ariosa Diagnostics 

Inc. - 3 (1714) 

Swaroop, A., University of Michigan - 7, 10 (Session 7) 

Syed, F., Illumina - 3 (3718) 

Talkowski, M. E., Signature Genomic Laboratories, 

PerkinElmer, Inc - 3 (68) 

Tang, M., Sequenom CMM - 3; Sequenom Inc - 1 (3023) 

Tanzi, R. E., Prana Biotechnology - 1, 5 (Session 10) 

Tavares, P., CGC Genetics - 13 (1778) 

Tavtigian, S. V., Myriad Genetics, Inc. - 7, 10 (1783) 

Taylor, J., Ariosa Diagnostics - 5 (2989) 

Taylor, J. C., LifeTechnologies - 12; Johnson & 

Johnson - 12; AstraZeneca - 12 (133) 

Thompson, J., Nabsys - 1, 3, 4, 10, 13 (3703) 

Thomson, N., CLC bio - 1, 3 (3662) 

Torchia, B., Signature Genomic Laboratories, 

PerkinElmer, Inc., Spokane,WA - 3 (902) 

Uhl, G., Duke University - 10 (2541) 

Umbarger, M. A., Good Start Genetics - 1, 3, 10 (3693) 

Utz, J., Genzyme - 2; Actelion, Shire - 5; Actelion, 

Shire, BioMarin, Genzyme - 8 (1855) 

Vaidya, D., Excet Inc - 5 (1710) 

Vaidyanathan, R., Epicentre (an illumina Company) - 3; 

Illumina - 3 (585) 

van der Valk, R. J. P., GlaxoSmithKline - 2 (2168) 

Vasenkova, I. A., Kailos Genetics Inc. - 3 (3687) 

Velasco, H., National University - 3 (703) 

Visitacion, M. R., Agilent Technologies, Inc - 3 (3709) 

Voorhoeve, E., Signature Genomics Laboratories - 3 

(98) 

Wang, L.-S., Johnson & Johnson Pharm Res & Dev - 

2 (342) 

Wang, X., Fluidigm Corp. - 1, 3 (3619) 

Watts, G. S., Ion Torrent - 9 (3712) 

Wernig, M., Fate Therapeutics - 7, 10; Stem Cells Inc. - 

11 (Session 78) 

Westbrook, J., Locus Development, Inc. - 1, 3 (1771) 

White, M., Hypogen - 1, 4, 11, 13 (245) 

Whitley, C. B., Shire Human Genetic Therapies - 2, 5, 

11, 12, 14 (801) 

Wisotzkey, R., NextBio - 3 (1190) 

Woo, C., Life Technologies - 3 (3520) 

Woo, S., Korean Coral Resources Bank, Ministry of 

Land Transport Mari - 2; Korea Ocean Research and 

Development Institute - 2 (3673) 

Wu, S., 23andMe, Inc. - 1 (2149) 

Xie, P., Merck - 2; Eli Lilly and Co - 5; GlaxoSmithKline 

- 5; Alkermes - 5 (2621) 

Xue, Z., GlaxoSmithKline - 1, 2, 3 (651) 

Yamasaki, M., Central Research Laboratory, Hitachi 

Ltd, Tokyo, Japan - 12 (2496) 

Yim, P. W., Life Technologies - 3 (486) 

Zeng, W., Ambry Genetics - 3 (2698) 

Zhan, Y., Affymetrix - 1, 3 (1582) 

Zhang, Z., UMDF - 6 (534) 

Zhao, Z., MolecularMD - 5; GlaxoSmithKline - 11; 

Millennium Pharmaceuticals - 11; Illumina - 5 (136) 

Zhong, J., Roche - 3 (242) 

Ziegler, A., Affymetrix - 12 (1443) 

Zimran, A., Protalix Biotherapeutics - 1, 5, 11, 14; 

Shire Human Genetic Therapies - 8, 14 (788)

1 

1000 Genomes Consortium, 

331, 3360T, 3380W 

1000 Genomes Project, 41 

1000 Genomes Project 

Consortium, 3636W 

16p11.2 European Consortium 

Collaborators, 62 

A 

Aaltonen, L., 997T 

Aanestad, M., 3614W 

Aartsma-Rus, A., 574W 

Ababon, M., 2216F 

Ababon, M. R., 2426F 

Abad, C., 2837T 

Abbasi, F., 1624T 

Abbott, D. E., 195 

Abd El-Fattah 

El- Hashash, O., 214 

AbdElHafez, H., 1922F 

Abdelhak, S., 105 

Abdellaoui, A., 459F 

Abdel-Magid, N., 2785W, 

2892F, 2904F 

Abdelmalek, M., 531F 

Abdelmoula Bouayed, N., 

539F 

Abdel-Rahman, M. H., 

1197W 

Abdenur, J., 2895F 

Abdollahi, B. S., 2150F 

Abdrabou, W., 2154W 

Abd Ruboh, A., 930T 

Abdulkareem, N., 1584T* 

Abdul-Rahman, O. A., 124, 

3076F* 

Abdul Razack, A. H., 1083W 

AbdusSamad, M., 1300F 

Abe, T., 396, 2051F 

Abe, Y., 1317T 

Abecasis, G., Session 7, 

88, 108, 113, 176, 177, 

186, 476W, 547F, 641T, 

1370W, 1391W, 1429F, 

1451W, 1513F, 1516F, 

1521T, 1525F, 1533T, 

1558F, 1568W, 1923W, 

2001W, 2090F, 2102F, 

2135F, 2198F, 2308T, 

3466T, 3664W 

Abecasis, G. R., 46, 117, 

154, 157, 170, 276, 

1448W, 1545T, 1952F, 

2183F, 2329T, 2339F 

*Presenting Author 

SPEAKER AND AUTHOR INDEX 

This index includes an alphabetical listing of all speakers, presenting authors, co-authors 

and study groups/consortia for the 2012 ASHG meeting. Session numbers follow invited 

speaker names; abstract numbers follow poster/platform author names. Presenting 

author names are noted with an asterisk. 

Abel, L., 365, 2003F, 3599F 

Abell Aleff, P. C., 1695T 

Aberg, K. A., 3442T*, 3452T 

Abhyankar, A., 127, 202, 

3599F 

Abifadel, M., 1607T 

Abi-Rached, L., 3710W 

Ables, A., 2989T 

Abnet, C. C., 1010F, 1076F 

Abney, M., Session 75, 278, 

1395T, 1488T 

Abolhasani, M., 2013W 

Abou Jamra, R., 2557T* 

Abouzehry, A., 3526W 

Abraham, A., 931W 

Abramowicz, M., 105 

Abrams, A., 794W 

Abrams, D. J., 2546F 

Abrams, G., 1965W 

Abramson, K., 1444F 

Abramzon, Y., 2611T, 2648F 

Abrantes, P., 1977W 

Abrantes, P. C. S., 2085W* 

Abruzzo, M. A., 2752W 

Absher, D., 434W, 3443T* 

Absher, D. M., 2223W, 

3318T 

Abu-Amero, K., 2997T 

Abu-Amero, S., 303, 3508T 

Abu Rayyan, A., 2919F 

Abu-staiteh, A., 3155W 

Abyzov, A., 334, 3251W 

Accardi, J. P., 2938W 

ACE Genetics Consortium, 

2479T, 2658W 

ACE Network Consortium, 

553F 

Acevedo, S., 3390T 

Aceves-Aceves, M. A., 

3187W, 3188F 

Achatz, M. I. W., 1102T, 

1217F* 

Achermann, J. C., 361 

Achkar, J. P., 1466W 

Achkar, W. A. L., 1490W 

Ackerman, H. H., 2561F 

Ackerman, M. J., 2885T, 

2906T 

Ackerman, S. L., Session 24 

Acosta, O., 2296T 

Acosta Guio, J., 3041W* 

Acosta-Herrera, M., 2296T 

Acosta Lebrigio, R. F., 

2615F 

Acosta-Perez, E., 3449T 

Acquaye, T. K., 626T 

Acuna, B., 1289W, 1301W, 

1414F, 1455T 

Adachi, H., 2129F 

Adachi, K., 2440T 

Adachi, M., 1795W, 2891T 

Adachi, S., 2133W 

Adair, C. D., 3020T 

Adala, L., 2744T 

Adam, M. P., 1753W* 

Adam, S., 1840F*, 1846W 

Adamczyk, A., 2566T 

Adami, H.-O., 991T 

Adams, C., 953W, 3717F 

Adams, D., 359*, 2870T 

Adams, D. J., 105 

Adams, D. R., 2938W, 

3543F 

Adams, E., 784W 

Adams, J., 1706T* 

Adams, L., 1834F 

Adams, M. C., 231* 

Adams, S. A., 832F* 

Adamski, J., 2226W, 2548T 

Adamusiak, T., 3610W 

Adane, S., 1268F 

Adayev, T., 2449T 

Addai, J., 2979T 

Addess, K., 3582W 

Addis, L., 1531F, 2580W* 

Addison, S. M. F., 378 

Adebamowo, C., 1003T, 

1848W 

Adebowale, A., 2063F 

Adela Mansilla, M., 2325W 

Adès, L. C., 3167W 

Adey, A., 3721F 

Adey, A. C., 1014W* 

Adeyemo, A., 241, 1515T, 

1886F, 1959W, 3533F 

ADGC, ADNI, GERAD, 340 

ADGC Consortium, 343 

Adhikari, K., 3327T* 

Adhikari, N., 1665T 

Adir, V., 3202F* 

Adkins, A. E., 2504F 

Admiraal, R. J. C., 58 

Adoue, V., 569F, 3439T 

Adrianto, I., 529F, 1895F, 

2084F, 2188T 

Afanador, Y. M., 3315T* 

Afanasjev, V., 1140W 

Afenjar, A., 127, 131 

Afi Rawlings-Goss, R., 518W* 

African American BMI 

Consortium, 2131T, 

3299W 

Afzal, V., 4, 407 

Agarwal, A., 2028W, 2318F 

Agarwal, P., 649T 

Agarwal, S., 2446T, 2700F* 

333 

Agarwala, V., 2209T* 

Agate, S., 2014T 

Agatep, B. C., 1714T 

AGEN-T2D, DIAGRAM, 

MA-T2D and SA-T2D 

Consortia, 49 

Aggarwal, A., 1235F 

Aggarwal, R., 3508T 

Aggarwal, S., 555F 

Aggarwal, V., 73, 957W, 

977W* 

Aggen, S., 3512T 

Agioutantis, Z., 2902W 

Aglan, M., 2937F 

Agne, E., 3729F 

Agolini, E., 2760F* 

Agosti, V., 1985F 

Agostini, J., 1732W, 2775F 

AGP Consortium, 2492F 

Agrap, B., 1172F 

Agrawal, A., 2582F, 2598W 

Agrawal, P., 2811F* 

Agrawal, P. B., 3219W 

Agrawal, S., 2353T, 2992T 

Aguena, M., 814F, 852F 

Aguglia, U., 2780T 

Aguiar, M. J. B., 2434T, 

3107W, 3110F 

Aguiar, V. R. C., 182, 1573F* 

Aguiar-Garcia, P., 650T 

Aguilar-Chávez, E. A., 2363F 

Aguilar-Pimentel, J. A., 

2922F 

Aguilar-Salinas, C. A., 

2256W 

Aguilera, M., 728T 

Aguilera, P., 1053W 

Aguinaldo, K., 3698W 

Aguirre Hernandez, J., 

1105T* 

Agusti, A., 2249F 

Aguzzi, R., 773W 

Ahaghotu, C., 1009T 

Ahearn, J., 458W 

Ahituv, N., 246, 1995W 

Ahluwalia, T. S., 2317T, 

2347T* 

Ahmadi, A., 3201W 

Ahmadi, K., 44, 583F 

Ahmadzadeh, A., 1118F 

Ahmed, A., 714T, 715F* 

Ahmed, A. F., 2047T 

Ahmed, I., 3078F 

Ahmed, M., 3078F 

Ahmed, R., 931W 

Ahmed, S., 209 

Ahmed, Z. M., 2724F, 

2959W, 3194F, 3212F 

SPEAKER AND AUTHOR INDEX

334 SPEAKER AND AUTHOR INDEX 

Ahmudavalli, S. M., 300 

Ahn, C., 3223W 

Ahn, H., 3461T 

Ahn, J., 1243T 

Ahn, J. W., 906T* 

Ahn, K., 1338T, 2584T* 

Ahn, Y., 1657T 

Aho, H., 1139F 

Ahonen, S. J., 2913F* 

Ahonen-Bishopp, A., 

3610W 

Ahsan, B., 52, 2409W 

Ahsan, H., 2025W 

Ahting, U., 699F, 782W 

Aiello, A., 435F 

Ainehsazan, E., 2801T 

Ainsworth, P. J., 1138T*, 

3672W 

Airaud, F., 1204T 

Aird, D., 322 

Aissat, A., 572W 

Aitchison, A., 3440T 

Aitman, T. J., 1618T, 2005T 

Aittomäki, K., 897W, 1006T, 

1117T, 1171T, 1265F 

Ait Yahya Graison, E., 

3674W* 

Aiyar, L., 320* 

Ajay, S., 2293T 

Ajbro, K. D., 805F* 

Ajit Bolar, N., 80 

Akalin, A., 3464T 

Akarsu, N., 219 

Akay, H., 2772F 

Akbari, M., 2013W 

Akbari, M. T., 2290T* 

Akbari, S., 2135F 

Aken, B. L., 506W 

Aker, L., 2139W 

Akerlund, M., 190 

Akerstedt, A. M., 168 

Akey, J., 283 

Akey, J. M., 10 

Akhabir, L., 1465F 

Akin, H., 965W, 1106F* 

Akinrinade, O., 992F 

Akinsanya, K., 1605T 

Akiyama, J., 407 

Akiyama, J. A., 254 

Akler, G., 3395W 

Akmen, H. O., 232 

Akoume, M.-Y., 2234F 

Akoury, E., 2842W, 2981T* 

Aksakal, O., 594W 

Aktas, S., 1025F 

Akula, N., 260*, 2622W 

Akushevich, I., 2027F 

Akutsu, K., 1697T 

Akylbekova, E., 350 

Akylbekova, M., 2210F 

Akyol, M., 1136F 

Al Ageeli, E., 1205F 

Al-Ahmari, A., 3149W* 

Alaimo, J. T., 640T* 

Ala-Koko, L., 1892F 

Ala-Korpela, M., 656T, 1623T 

Alakulppi, N., 2023T 

Alakus, H., 395 

Al-Alem, U., 2281T 

Al-Ali, F. M. S., 2731W 


Ala-Mello, S., 252 

Al-Amri, F., 2713W 

Al-Aqeel, A., 723F* 

Al-Aqeel, S., 1266W* 

Alarcón-Riquelme, M. E., 

1979F, 2046W, 3382F 

Alassiri, H., 3155W 

Alasti, F., 419F* 

Alavi-Naini, SM., 843F 

Al-Awwami, M., 3149W 

Al-azzam, S., 856T 

Albanes, D., 1012T, 1091F, 

1154F 

Albers, C. A., 383* 

Albers, J. J., 1605T 

Albertyn, Z., 242 

Albino, E., 1987T* 

Albracht, D., 465F 

Albrecht, E., 2086T*, 2175W 

Albrechtsen, A., 2311T, 

2317T, 2347T, 3289F, 

3312T 

Albright, F., 1328W 

Albu, C. C., 3005T*, 3009T, 

3067W 

Albu, D. F., 3005T, 3009T*, 

3067W 

Albuisson, J., 3233W 

Alby, C., 77, 403, 3240F 

Alcaïs, A., 1374T, 2003F 

Alcalay, R., 746T 

Al-Chalabi, A., 348 

Alcivar, 872T 

Alda, M., 2338T, 2342F 

Al-Dhekri, H., 3155W 

Al-Dosari, S., 2713W 

Aldrich, J., 1240T 

Alechine, E., 3364F, 3402T 

Aleman, G., 526W 

Alembik, Y., 3073W 

Alenius, G. M., 2160W 

Alessandri, J.-L., 3172F 

Alessandri, M., 1786W, 

1787W 

Alexander, G. J., 153 

Alexander, I. E., 166 

Aleyasin, A., 2980T 

Al-Fadhly, F., 2676F 

Al-Fawaz, I., 3149W 

Alfieri, P., 3087W 

Alfredsson, L., 1455T 

Al-Gazali, L., 8, 160, 2740W, 

2937F 

Al-Ghonaium, A., 3155W 

Alha, P., 1835W 

Alhaddad, H., 3252T 

Al-Hafid, N., 166 

Al-Hait, S., 2937F 

Al-Hamed, M. H., 2676F* 

Al-Hazza, S., 2734W 

Al-Hertani, W., 675F*, 720T 

Ali, B. R., 160 

Ali, G., 2631W 

Ali, M., 2403W, 2959W 

Ali, R., 2899W 

Ali, S., 2821W 

Aliefendioglu, D., 702T 

Alikashani, A., 1678T, 

1982F, 2319W 

Alizadeh, B. Z., 111, 2073W 

Alizadeh, S. A., 1096T 

Al-Jasmi, F., 2937F 

Alkan, C., 14 

Al-Kateb, H., 912T, 1028F* 

Alkayal, F., 3369T 

Alkelai, A., 53, 2875W* 

Alkhateeb, A., 1881W* 

Alkrinawi, S., 2738T 

Allache, R., 1910F* 

All-Allawi, N., 2937F 

Allam, R., 2734W 

Allamand, V., 2436W 

Allanson, J., 124, 150, 1852F 

Allayee, H., 110 

Allegra, M., 218 

Allegri, L., 845F 

Allen, A. S., 1349W 

Allen, C., 1823W* 

Allen, E., 1971W* 

Allen, E. G., 253, 3042F 

Allen, J., 2465F 

Allen, M., 1316W, 1377T, 

1671T, 1713T, 3719F 

Allen, S., 36 

Allen, S. J., 406, 2850F 

Allik, A., 1832F 

Allingham, R. R., 386, 

2154W, 2240F, 2263T 

Allingham-Hawkins, D., 

1820F* 

Allione, A., 1712T 

Allon-Shalev, S., 1165T 

Al-Maawali, A., 1704T 

Almada, B. V. P., 814F, 852F 

Al-Mahdawi, S., 761W 

Al-Marri, A., 2933T, 3399W 

Almarri, M. A., 153 

Almasy, A., 1651T 

Almasy, L., 1280W, 1406W, 

2061W, 2308T, 2309F, 

2503T, 2582F, 2589W, 

2651F 

Almasy, L. A., 1923W 

Almeida, B. S., 994T, 1946F 

Almeida, J., 2417F, 2502W 

Almeida, M., 176, 1280W, 

1513F, 2308T, 2339F 

Almeida, M. A., 1923W*, 

2309F 

Almeida, R., 523F 

Almeida, T. F., 2232W*, 

3152F, 3184F, 3295F 

Almeida-King, J., 497F 

Almeida-Souza, L., 201, 

2948T 

Almli, L. M., 1422T, 2420F*, 

3480T 

Almoguera Castillo, B., 

1659T 

Al-Mostafa, A., 2734W 

Al-Mousa, H., 3155W 

Al-Muhsen, S., 3155W 

Almureikhi, M., 2899W 

Almusa, H., 327, 2888T 

Al-Mutawa, M., 2713W 

Al-Olama, A., 1011W 

Alonso, A., 1403W, 1585T 

Alonso, I., 1964F, 2736F, 

2818W 

Alonso, N., 2687T 

Alonso, P., 2593T 

Alonso Barragan, S. A., 

3187W 

Al-Owain, M., 2734W 

Al-Saad, S., 8 

Al-Saffar, M., 8 

Al-Sannaa, N., 219 

Al-Sarraj, S., 3476T 

Al-Sarraj, Y., 2899W, 3140F, 

3526W* 

Al-Saud, B., 3149W 

Al-Saud, B. K., 3155W 

Al-Shambri, S., 3149W 

Alsmadi, O., 3149W, 

3155W, 3369T 

Al-Sum, Z., 3155W 

Altaescu, G., 788W 

Altamirano, M., 1022F 

Altamuro, D., 966T 

Altansukh, T., 3248F 

Altarescu, G., 746T, 2991T*, 

2993T, 3002T 

Altemose, N., 284 

Altenmüller, E., 200 

Alter, B. P., 1196F 

Altincik, A., 2758W 

Altinors, N., 1013F 

Altiokka Uzun, G., 2396F, 

2412W 

Altman, R. B., 633T, 635T, 

646T 

Altmann, A., 2483F 

Altmüller, J., 2759T, 2861T, 

2869W, 2930T, 2944W 

Altshuler, D., 176, 208, 249, 

280, 1677T, 2209T 

Altug, T., 2429F 

Al-Turki, S., 101, 216, 364 

Altuzara, C., 2770W 

Altuzarra, C., 329 

Alul, F., 1882T* 

Alvarado, C., 398 

Alvarado, D. A., 220 

Alvarado, D. M., 2860W* 

Alvarado, M., 1741W, 1866F 

Alvarez, M., 3449T 

Alvarez, M. C., 1187F 

Alvarez, M. I., 2940F, 3217W 

Alvarez, V., 2930T 

Alvarez-Mora, M.-I., 2624F 

Alvarez-Serrano, A., 3363T 

Alver, M., 2144F 

Alves, S., 3122F 

Alves-Ferreira, M., 2818W* 

Alvim-Soares, A., 2385W 

Alvizi, L., 2673F*, 2746W 

Al-Yahyaee, S. A., 160 

Alzheimer’s Disease Genetics 

Consortium, 342, 344, 

1476T, 1571W, 2498F 

Alzheimer’s Disease 

Neuroimaging Initiative, 

2511W, 2531F 

Alzoubi, K., 855W, 856T* 

Amagai, M., 2911W 

Amara, A., 1751W, 2744T 

Amaral, M. D., 1731W 

Amarillo, I. E., 950T 

Amata, S., 3114F 

Amato, R. S., 432W

Ambalavanan, A., 2338T, 

2558F* 

Ambannavar, R., 1198T 

Ambite, J. L., 1439W, 

3558W, 3678W 

Ambrosone, C. B., 2202W 

Ambs, S., 1003T, 1097F 

Ambulos, N., 602T 

Amelio, A. L., 1162T* 

Amell, A. M., 55, 2224T 

Amemiya, A. R., 1753W 

Amer, W., 2866W 

Ames, J., 3587F 

Ameur, A., 3728W 

Ameye, G., 2002T 

Amiel, J., 126, 843F, 915W, 

2770W, 3157W, 3172F* 

Amin, N., 109, 459F 

Amin Al Olama, A., 205, 

1148F* 

Amini, P., 1083W 

Amiran, R., 858T 

Amiri, H., 689F 

Amirisetty, S., 578W 

Amjad, R., 1956W 

Ammarinthnukrowh, P., 

2006F 

Ammous, Z., 1633T*, 

3175W 

Amor, D. J., 217 

Amorim, A., 2982T 

Amos, C., 1291F, 1399F 

Amos, C. I., 593F, 1298W, 

1454W 

Amouri, R., 2537F 

Ampy, F., 1821W 

Amr, S. S., 1754W* 

Amron, D., 2790F 

Amstadter, A., 3512T 

Amundadottir, L., 1088F, 

1199F 

Amyere, M., 1015T* 

Amyot, M., 1951T 

Anagnostopoulos, A., 2675T 

Anand, V., 3382F 

Ananiev, V., 3582W 

Ananina, G., 426W*, 2718F 

Anastosova, V., 1811W 

Anaya, J. M., 307, 1979F, 

2046W 

Anaya, J.-M., 529F, 2084F, 

2188T 

Anayane-Yeboa, K., 977W 

Anchan, R., 78, 82 

Ancoli-Israel, S., 2375F 

Anctil, J. L., 1951T 

Andelfinger, G., 31 

Anderlid, B. M., 80 

Andermann, E., 2790F 

Andersen, A., 3706W 

Andersen, C. L., 401 

Andersen, E. F., 886T* 

Andersen, H. S., 737F 

Andersen, M., 1237T*, 

1244F, 3714W 

Andersen, P. S., 1323T* 

Andersen, T. A., 805F 

Anderson, A., 1724W 

Anderson, C., 1269W, 

1518T 


Anderson, C. A., 153, 354, 

1967F, 2101T, 2133W, 

2163W 

Anderson, G., 2755W 

Anderson, J., 2529W, 2681T 

Anderson, J. M., 2663T 

Anderson, L., 2465F 

Anderson, M., 7 

Anderson, M. W., 1454W 

Anderson, N., 433F, 835F 

Anderson, P., 3664W 

Anderson, R., 1052F, 1856F 

Anderson, R. L., 3398T 

Anderson, S., 912T, 1242W 

Anderson, T., 2584T 

Andersson, A., 31 

Andersson, E., 2311T 

Andersson, H. C., 666T*, 

907W 

Andersson, T., 1242W 

Andersson Assarsson, J., 

1271F 

Andersson-Assarsson, J. 

C., 427F* 

Ando, J., 3513T 

Ando, M., 2559W* 

Ando, Y., 2550W, 2619W 

Andoni, U., 2436W 

Andrade, E. S., 3280F* 

Andrade, J. G., 478W 

Andrade, R. V., 3375T 

Andrade-Lima, L. C., 814F 

Andreasen, D., 1194W 

Andreasen, N., 2493W 

Andreasen, N. C., 422W 

Andreassen, K. E., 991T 

Andreoli, V., 2597F 

Andres, A., 3306T 

Andresen, B. S., 737F* 

Andresson, T., 1088F, 

2833W 

Andrew, A., 3465T 

Andrew-Faucett, W., 299 

Andrews, A. M., 261 

Andrews, A. S., 1453F 

Andrews, C., 2928F 

Andrews, H., 442W 

Andrews, L., Session 20 

Andrews, P., 2587T 

Andrieu-Abadie, N., 54 

Andrieux, J., 299, 889W, 

911W, 925W, 3109W, 

3172F 

Andrulis, I. L., 1213T 

Anedda, F., 2001W* 

Ang, K., 309 

Ang, K. C., 3267T* 

Ang, W., 2097W, 2164T 

Angeles, M., 928T 

Angelini, C., 1732W, 1776W, 

2909T 

Angerhofer, N., 3321T, 

3340F*, 3365W 

Angius, A., 113, 157, 177, 

186, 547F, 823F, 1451W, 

1516F, 2001W, 2916F 

Angle, B., 66 

Angle, J., 3350W 

Angot, E., 32 

Angrist, M., 3 

SPEAKER AND AUTHOR INDEX 335 

Angstadt, A. Y., 1107W* 

Anguiano, A., 876T, 3522T 

Anikster, Y., 53, 199, 660T, 

731F, 2455T 

Ankeleshwaria, C., 700T 

Ankeman, K., 2406W 

Ankener, W., 544W 

Ankleshwaria, C., 3400T* 

Ankleshwaria, C. M., 2803W 

Annagür, A., 219 

Annerén, G., 3245W 

Annesi, G., 2763F, 2766F, 

2774T*, 2780T 

Annesi-Maesano, I., 1941W 

Annilo, T., 1163F*, 3079W 

Annunziata, F., 735F 

Ansari, M., 3072F 

Antalfy, B., 234 

Antao, N. N., 614T 

Anthony, D., 216, 809F 

Anthony, S. P., 1186T 

Antignac, C., 322, 324 

Antoine-Poirel, H., 2002T 

Antonacci, F., 3296W 

Antonarakis, S. E., 67, 84, 

85, 550W, 556W, 561F, 

567F, 582W, 807F, 2877F, 

2937F, 3263W, 3431T 

Antonellis, A., 2470T* 

Antonialli, G., 3131W 

Antonialli, G. P. M., 2484W* 

Antonini, G., 1776W 

Antonini, S., 874T 

Antoniou, A., 208, 1109F 

Antoniou, A. C., 207*, 210, 

1492F 

Anvar, S. Y., 542W 

Anyane-Yeboa, K., 1600T, 

3046F 

Anyanwu, N., 2082W 

Ao, A., 2981T 

Aoki, K., 724T 

Aoki, M., 396 

Aouizerat, B. E., 1965W 

Aparecida da Silva, D., 

3364F, 3402T 

Aparicio, J. M., 926T*, 

1018T, 3039W, 3061W, 

3063W, 3064F 

Aparicio-Rodriguez, J. M., 

3062F 

APCDR Investigators, 

3412T 

Apel, M., 2160W 

Apolo, A. B., 1092W 

Apone, L., 512W, 3517T* 

Apone, L. M., 3702W, 

3715F 

Aponte, J., 1686T 

Appel, I. M., 980T 

Appelbaum, E., 1210T, 

2325W 

Appel-Cresswell, S., 346, 

3135W 

Appelt, U., 3641F, 3662W 

Appenzeller, O., 3307F 

April, C., 1193F, 1238F 

Aquino, M., 3033T 

Aquino, M. A., 2871F 

Aquino-Michaels, K., 646T 

Arabzadeh, M., 1056W 

Aradhya, S., 103, 332*, 

1765W, 2579F 

Aragam, J., 1677T 

Aragon-Martin, J. A., 1584T, 

1675T 

Arahata, H., 2400W 

Arai, Y., 396 

Araki, T., 2435F 

Aral, B., 2716W, 2729T, 

2770W 

Aran, A., 2447F 

Aranha, I., 927W* 

Arashiro, P., 1776W 

Arasimavičius, J., 653T 

Araujo, A. S., 426W, 2718F 

Araújo, B. P. B., 479F 

Araújo, I. I., 3318T 

Araujo, M. I., 2043W 

Arayssi, T., 1490W 

Araz, M., 1402F, 1935W, 

1938W 

Arbeev, K., 2027F, 2194T 

Arbeeva, L., 2194T 

Arbez-Gindre, F., 3199W 

Arboleda, V., 361* 

Arcanjo, A. C., 3324T, 

3375T 

Archaic Genome Analysis 

Consortium, 3274F 

Archana, G., 878T 

Archibald, A. D., 143 

Arciniegas, N., 659F* 

arcOGEN Consortium, 

2292W 

Arden, N., 2189F 

Arden, N. K., 2292W 

Ardissone, F., 1153T 

Ardlie, K., 368* 

Ardon, O., 660T*, 689F 

Arenas-Aranda, D. J., 1168T 

Arenas-Sordo, M., 3125W* 

Arends, M. J., 105 

Arens, Y., 1439W*, 3678W 

Arepalli, S., 564W 

Aretz, S., 1005W* 

Arezi, B., 3709F 

Argente, J., 2711T, 3208F 

Argiro, L., 1949F 

Argiropoulos, B., 910T, 

3095W 

Argos, M., 2025W 

Ariani, F., 2604W* 

Arias, L., 3074F 

Arias Vásquez, A., 1498F* 

Arimura, K., 2601W 

Arimura, Y., 2174F 

Arinami, T., 2380T 

Ariyoshi, K., 1998W, 1999T 

Arjona, D., 330 

Arking, D. E., 1403W, 1579F, 

1585T 

Arlt, M. F., 339*, 2879T 

Armas, R., 2495F 

Armasu, S. M., 1375F, 

1497T, 3451T 

Armbrecht, A. M., 2072F 

Armengol, L., 3208F 

Armory, P., 1082F 

Armour, C., 719F 



Armstrong, D. G., 3712W 

Armstrong, G., 1447F 

Armstrong, L., 1447F 

Armstrong, M. C., 2851W 

Arnaout, R., 3155W 

Arnaud, K., 2674W 

Arndt, K., 3090F 

Arndt, S., 2753T, 3203W 

Arne-Bes, M.-C., 2945T 

Arnell, C., 1021T 

Arnett, D., 3443T 

Arnhold, U. P., 2706F 

Arning, M., 630T 

Ärnlöv, J., 1624T 

Arno, G., 1584T, 1675T* 

Arnold, A., 1275W 

Arnold, P. D., 2499W*, 

3447T 

Arobba, B., 1856F 

Aroda, V., 1925F 

Aronica, E., 2909T 

Aronow, B., 2136W 

Arp, P., 3608W 

ARRA Autism Sequencing 

Collaboration, 2613W 



1520W, 1523W, 3597F 


Consortium and Autism 

Sequencing Consortium, 

2577W 

Arroyo-Pardo, E., 3402T 

Arseneau, J., 2842W 

Arseneault, R., 1951T 

Arslan, A. O., 2956W 

Arslan, E., 2719W 

Artigalás, O., 1851F 

Artigiani, R., 3421T, 3503T 

Artiguenave, F. M., 2394W, 

2876T, 3578W 

Artinger, K. B., 819F 

Arts, H., 324 

Arts, H. H., 216 

Artto, V., 2348F 

Arun Kumar, G., 3377W 

Arveiler, B., 473F*, 841F 

Asabere, A., 551F 

Asahina, N., 2822T 

Asan, A., 3300T, 3311W 

Aschard, H., 318* 

Aschendorff, A., 2753T, 

3203W 

Aschim, E. L., 991T 

Asgari, N., 2290T 

Ash, C., 1093T 

Ashe, T. D., 565F 

Ashfield, A., 1082F 

Ashford, L., 730T 

Ashkenazi Genome 

Consortium, 17 

Ashley, E., 1601T 

Ashley-Koch, A., 3, 386, 

531F, 1919F, 2135F 

Ashley-Koch, A. E., 2340W, 

2946F 

Ashton-Prolla, P., 1217F 

Ashutosh, A., 971W 

Asico, L., 245 

Asiimwe, E., 1919F 


Asimit, J., 3412T 

Aslam, A., 3700W 

Aslam, M., 2086T 

Asmal, L., 644T 

Asmann, Y. W., 986F, 

1214F 

Aspers, R., 2696T 

Aspesi, A., 1153T 

Asselbergs, F. W., 609T, 

1606T, 1659T 

Asselin, G., 2402F 

Assimes, T., 1608T 

Assimes, T. L., 115, 434W, 

1595T, 1624T 

Assumpção, P. P., 1008W, 

1132T, 3421T, 3503T 

Astashyn, A., 3732W 

Astbury, C., 456W, 912T 

Astley, S., 3076F 

Aston, K. I., 2982T 

Astuti, D., 2767W, 2787F 

Asunis, I., 2001W 

Aswani, V. H., 2683W 

Ataman, B., 2613W 

Atanur, S., 1618T 

Atefi, M., 136 

Atehortua-Khalsa, K., 3717F 

Ather, S., 667F 

Athing, U., 2917W 

Atia, J., 1811W* 

Atik, T., 965W, 3222F 

Atique, R., 2687T* 

Atkin, J., 456W 

Atkin, J. F., 124 

Atkinson, A. L., 143 

Atkinson, E., 2362T 

Atlan, D., 3610W 

Atsuta, N., 3221W 

Attanasio, C., 4* 

Attarian, S., 328 

Attia, J., 2133W 

Attie, T., 3246F 

Attie-Bitach, T., 2727F, 

3240F 

Attié-Bitach, T., 77, 403 

Attri, S., 802W 

Attwood, A. H., 978T 

Atwal, G., 3316F 

Atwood, L. D., 2030F 

Atzeni, R., 157, 177, 1516F 

Atzmon, G., 17, 169, 269, 

1319W, 1923W, 2308T, 

2339F, 3336T, 3345T, 

3395W 

Au, E., 1756W 

Au, P.-Y. B., 1052F* 

Aubart, M., 56* 

Aubry, M., 2893W 

Audi Delaney, L., 131 

Audrezet, M.-P., 1728W 

Auer, M., 1115F 

Auer, P. L., 301, 1408F, 

1437T, 2336F, 2337W 

Auerbach, A. D., 1069T* 

Auer-Grumbach, M., 201, 

2948T 

Augello, B., 775W, 3087W, 

3256F 

Augustin, J., 345 

Augustine, N. H., 495F 

Augusto, D. G., 1405F 

Aulchenko, Y. S., 2106W 

Aung, T., 2094W 

Auro, K., 2059T* 

Ausavarat, S., 2749W 

Austermann, C., 3310F 

Austin, C., 3490T 

Austin, H., 611T 

Austin, M., 3649F 

Autism Genome Project, 

2261F 

Autism Sequencing 

Consortium, 2560T 

Auton, A., 285, 1494T 

Auvin, S., 2536T 

Au-Young, J., 1195T* 

Avadhani, N., 2943F 

Avallone, B., 808F 

Avansini, S. H., 514W* 

Avard, D., 1823W 

Avbelj, M., 2710W 

Avdjieva-Tzavella, D. M., 

923W 

Avery, C. L., 1434T 

Avihingsanon, Y., 2006F 

Avila, M. P., 3130F 

Avila, S., 976T 

Avila Arreguin, E., 773W 

Aviram, A., 270, 2603F 

Aviram, M., 2738T 

Aviv, A., 1653T 

Avraham, K. B., 2914W*, 

2919F 

Avramopoulos, D., 504W, 

2387F, 2461T, 2486F, 

2573F 

Avrich, A. A., 1295W 

Avril, M. F., 1158W 

Avsar, T., 2429F, 2450F* 

Aw, J., 1872F, 1873F 

Awad, D., 1600T 

Awadalla, P., 31, 2266T, 

3260W, 3268F, 

3341W* 

Awano, H., 729F, 781W 

Awasthi, S., 1287T 

Axelsen, M., 2493W 

Axelsson, T., 617T, 619T 

Axford, M. M., 2824W* 

Aya-Bonilla, C. A., 1042T* 

Ayala Ramírez, P., 2990T* 

Ayas, M., 3149W 

Aydinok, Y., 2719W 

Ayele, F., 3412T 

Aygun, B., 2331W 

Aykut, A., 3206F 

Ayme, S., 2703F 

Aypar, U., 887W* 

Ayres, C., 1038W 

Ayub, M., 2398T, 2590T 

Ayub, Q., 3322F 

Ayyub, H., 418W 

Azad, A. K., 1108T* 

Azadegan, F., 1143W, 

1596T, 1739W 

Azaiez, H., 2867T* 

Azamian, M. S., 1646T 

Azaro, M., 2381F 

Azaro, M. A., 2523W 

Azen, C., 237 

Aziz, A., 3007T 

Aziz, N., Session 3 

Aziza, J., 3129W 

Azzedine, H., 2866W* 

B 

Baaj, S., 865W* 

Baala, L., 3246F* 

Baas, A. F., 87 

Baas, F., 197, 200, 1616T, 

2909T 

Babatz, T. D., 504W* 

Babin, P., 841F 

Babiuk, R., 2675T 

Babovic-Vuksanovic, D., 

887W 

Babron, M.-C., 1496W*, 

3408T 

Babron, M. C., 3328F 

Babrzadeh, F., 398 

Babu, D., 2827W* 

Babul-Hirji, R., 1872F, 

1873F 

Babyak, M. A., 2481W 

Bacanu, S. A., 2500T 

Baccarelli, A., 3469T 

Bacchelli, C., 1748W 

Bach, R. G., 2535W 

Bachmann, C. G., 2568W 

Bachmeyer, R. C., 1245W, 

3527F*, 3687F 

Bacino, C., 432W, 898T, 

952T, 3209W 

Backes, C., 515F 

Bäcklin, C., 3427T 

Backus, K., 1116W 

Backx, A. P., 2909T 

Bacon, C., 1612T 

Badarinarayan, N., 1943F, 

2303F 

Bademci, G., 347, 2603F, 

3706W 

Badenas, C., 1053W* 

Badens, C., 2536T, 3236F 

Bader, J. S., 1403W, 1579F 

Bader, S., 242 

Badfar, S., 1596T 

Badii, R., 2933T, 3399W 

Badilla-Porras, R., 3183W* 

Badner, J., 2590T 

Badner, J. A., 1957T 

Bae, J., 3444T*, 3462T 

Bae, J. S., 3607F 

Bae, S., 3462T 

Bae, S. C., 1979F, 2046W 

Bae, Y., 411, 2864T 

Baek, J., 2273F, 2427W* 

Baena, N., 2940F 

Baere, E., 298 

Baert, A., 539F 

Baert-Desurmont, S., 1222T 

Baeta, M., 3364F, 3402T 

Baets, J., 201*, 2948T 

Baez-Cabrera, L., 1130F 

Baffini, S., 3114F* 

Bafna, V., 1043F, 1471F, 

3307F 

Bagalà, A., 2766F, 2774T

Bagarotti, A., 2775F 

Bagdonaite, l., 920T 

Bagga, A., 2844F 

Baggott, C., 1965W 

Baghdadli, A., 2386T 

Baghel, K., 764W, 1883F* 

Bagheri, N., 1143W*, 1596T, 

1739W 

Bagnall, R. D., 1664T* 

Bagot, M., 29, 1062W 

Bagshaw, A., 3440T 

Bahce, M., 1136F 

Baheti, S., 1695T 

Bahi-Buisson, N., 104 

Bahlo, M., 2741T, 3228F 

Bai, R., 330*, 2839W 

Bai, Y., 1945T 

Bai, Y.-M., 610T 

Baier, H., 810F 

Baier, L., 1300F, 1917W, 

2038T 

Baier, L. J., 2018F, 2124W 

Baig, S. M., 2920W 

Bailes, A., 456W 

Bailes, A. K., 912T 

Bailey, A., 3038F 

Bailey, J. M., 1957T 

Bailey, L., 789W 

Bailey, L. B., 1304W 

Bailey, M., 340 

Bailey, M. H., 1149W* 

Bailey, S. M., 948T 

Bailey-Wilson, J. E., 1001F, 

1081T, 1214F, 1302T, 

1363F, 1454W, 1512T, 

3591F 

Baillie, J. K., 1507F 

Bailliet, G., 3362W 

Bain, S. M., 978T* 

Bainbridge, M., 314, 1742W, 

2802F, 2934F 

Bainbridge, M. N., 1735W, 

1757W, 2883F, 3576W 

Baird, L., 2397W 

Baird, P., 1072T, 1911W 

Bajaj, K., 1793W, 3022T 

Bajanowski, T., 86 

Bak, B., 2701W 

Bak, M., 805F 

Bakay, M., 1992W* 

Baker, A., 1194W 

Baker, C., 12, 14 

Baker, E., 2087F 

Baker, J., 1198T, 2033F 

Baker, L., 2845W*, 2846T 

Baker, M., 3287W 

Baker, M. C., 2639F 

Baker, P., 1671T 

Baker, T., 642T 

Bakke, P., 2057F, 2249F 

Bakker, B., 55 

Bakker, S. C., 2526W 

Bakour, R., 1268F 

Bakthavachalam, V., 2039F, 

2049W 

Bala, N., 3516T 

Balanovska, E., 3377W 

Balanovsky, O., 3377W 

Balasa, A., 2802F, 3495T 

Balasenthil, S., 1095W 


Balasubramanian, S., 41, 

280 

Balat, A., 1402F, 1935W, 

1938W 

Balci, T., 1164W*, 1178F 

Baldassano, R., 319, 

2229W, 2252F 

Baldassano, R. N., 1997F 

Baldi, M., 71 

Balding, D., 1394W, 1807W* 

Balding, D. J., 684T, 3322F 

Baldo, G., 691F* 

Baldwin, C. T., 343, 2563T 

Baldwin, E. E., 886T, 1752W 

Baldwin, S., 3671F 

Bale, S., 330, 766W, 1765W 

Bale, S. J., 222 

Bali, D., 2293T 

Balkhy, S., 8 

Ball, C., 3321T 

Ball, C. A., 3365W 

Ball, T., 3276T 

Ballabio, A., 735F 

Ballantyne, C., 1688T 

Ballantyne, C. M., 272 

Ballard, D. H., 306 

Ballew, B., 1196F 

Ballif, B. C., 66, 884T*, 

3101W 

Ballinger, T., 466W 

Balloi, M., 3664W 

Balmakund, T. M., 1735W 

Balmaña, N., 2578T 

Balog, J., 55 

Balogh, M., 2177F 

Balouch, I. A., 2398T 

Baluyot, M., 1805W 

Balzotti, M., 1021T 

Bamezai, R., 3262F 

Bamezai, R. N. K., 1993T 

Bamshad, M., 2346W 

Bamshad, M. J., 55, 74, 94, 

148, 171, 301, 1842F, 

2740W 

Bancroft, E. K., 1109F* 

Banda, Y., 112, 118, 421F, 

2140T, 2513F, 3342T*, 

3383W 

Bandera, E. V., 2202W 

Bandiera, S., 522W 

Bandinelli, S., 2148W 

Banerjee, A., 361 

Banerjee, N., 3316F 

Banerjee, P., 1992W 

Banerjee-Basu, S., 446W 

Banfi, S., 2950W* 

Banikazemi, M., 693F 

Banitalebi, G., 2013W 

Banka, S., 2852T* 

Banks, E., 288 

Bannasch, D., 2778F 

Banning, M., 979W 

Banning, M. J. G., 955W 

Bansal, V., 3615F* 

Banser, L., 2664F 

Banwell, B., 2554T 

Bao, S., 557F, 2254T* 

Bao, Y., 1146W 

Bao, Y. H., 1974W 

Bapat, B., 3478T 


Baraban, S. C., 2779W 

Baradaran-Heravi, A., 

2682F* 

Baraitser, M., 124 

Baral, V., 842F, 2727F 

Baran, Y., 3360T 

Barann, M., 567F, 582W 

Baranova, M., 3263W 

Baratela, W. A. R., 3184F* 

Baratta, S., 2781F 

Barb, J., 260 

Barba, M., 2235W* 

Barbalho, P. G., 2373W* 

Barbalic, M., 1688T 

Barbany, G., 1024T, 1035W, 

1126T 

Barbarot, S., 3066F 

Barbaroux, C., 1205F 

Barber, G., 3612W 

Barber, R. E., 3158F 

Barber, T., 1369F 

Barber, T. D., 1235F 

Barbosa, A. P. M., 3272W 

Barboza, J., 3659F, 3669F* 

Barcellos, L., 1415W, 3454T, 

3458T 

Barcellos, L. F., 1289W, 

1301W, 1414F, 1455T, 

1924T* 

Barcellos, N., 879W 

Barcelos, F., 1977W 

Barcia, G., 202* 

Barczyk, K., 2759T 

Bardakjian, T., 810F, 3004T*, 

3179W 

Bardoni, B., 513F, 817F* 

Barea, J., 3120F* 

Bareke, E., 394, 1207T, 

1215W 

Barešová, V., 322 

Barett, A., 3441T 

Barfield, R. T., 66, 1422T* 

Barg, C. J., 142* 

Barić, I., 672T 

Barillot, M., 841F 

Baris, D., 1091F, 1092W 

Barisani, D., 1330F 

Barisic, N., 201 

Barišić, N., 2948T 

Barizzone, N., 2095T 

Bar-Joseph, I., 53 

Barker, A., 78 

Barker, J. N., 1927T 

Barker, J. N. W. N., 154 

Barkovich, A. J., 266 

Barletta, C., 3364F, 3402T 

Barmada, M. M., 1647T, 

1672T, 1673T, 1920W, 

1921T, 2040W*, 2099F, 

2125T, 2521T, 3078F 

Barnard, J., 1659T 

Barnes, A. M., 222* 

Barnes, C. P., 2576F 

Barnes, D. R., 1492F* 

Barnes, K., 536W 

Barnes, K. C., 158, 171, 

1558F, 1900T, 2043W, 

2346W 

Barnes, L. L., 343 

Barnes, S., 690T, 1860F 

Barnett, I., 2334W* 

Barnhart, M., 3644W 

Barnholt, K. E., 626T, 

1017W, 2087F* 

Barnicoat, A., 2755W 

Barnwell, J., 348 

Barojas, E., 3226F 

Barojas, P., 3226F* 

Baron, J., 1292W, 3465T 

Barp, J. D., 3114F 

Barr, C., 2545T, 3509T* 

Barr, T., 2221T 

Barragán-Hernandez, M., 

1121F 

Barral, S., 1892F 

Barreiro, L., 3260W 

Barreiro, L. B., 2031W 

Barreto da Silva, M., 

1968W, 2017T* 

Barrett, A., 44, 583F 

Barrett, A. J., 1259F 

Barrett, B., 1066T 

Barrett, C., 395 

Barrett, C. L., 1051T* 

Barrett, J., 101, 156*, 291, 

364, 453F, 2399F 

Barrett, J. C., 35, 37, 153, 

354, 1967F 

Barrett, J. H., 211* 

Barrett, L., 3419T 

Barrett, M. T., 1186T 

Barrett, T., 2703F, 2767W 

Barrett, T. G., 2787F 

Barrientos, M. P., 926T 

Barrionuevo, B. A., 9 

Barrios-García, T., 3504T 

Barrois, Y. E. G., 1711T 

Barros, A., 2982T 

Barros-Nunez, P., 3154F 

Barroso, A., 1213T 

Barroso, I., 33, 43, 45, 

2090F, 2123F, 2147F 

Barrowdale, D., 208, 1492F 

Barrsos, I., 1954T 

Barry, B. J., 266 

Barry, W., 147 

Barsh, G., 2223W 

Barsh, G. S., 3318T 

Bar-Shira, A., 704T 

Barsottini, O., 2642F 

Bartek, J., 1171T 

Bartel, F., 2826F 

Barth, P., 2759T 

Barth, P. B., 2909T 

Barth, P. G., 197 

Bartha, I., 2050T 

Barthez, M.-A., 403, 2536T 

Bartholdi, D., 3240F 

Bartholomew, A. J., 2552F 

Bartkova, J., 1171T 

Bartlett, C. W., 2381F, 

2544W 

Bartlett, J., 245 

Bartman, T., 196 

Bartoli, M., 328 

Bartolomei, M., 3082F 

Barton, A., 2160W 

Barton, D., 1874F 

Barton, L. V., 1717W* 

Barts, J., 493F 



Bartsch, O., 849F*, 3266W 

Barzilai, N., 1319W 

Basang, B., 3317W 

Basehore, M. J., 2901F 

Basel-Vanagaite, L., 105, 

126, 3185W* 

Basford, M., 1602T 

Bashir, A., 3724W 

Bashover, E., 3331F 

Baskin, B., 2554T 

Baskin, L. S., 1352W, 1885T 

Bass, F., 348 

Bass, H., 3059W 

Bassell, G., 540W 

Basset-Seguin, N., 29, 

1062W 

Bassett, A. S., 2428T, 

2467T, 2544W, 2575T 

Bassett, S. S., 2648F 

Basso, M., 896T, 899W 

Bassuk, A., 419F 

Bassuk, A. G., 1910F, 

2750T 

Bastarache, L., 3622W 

Bastie, J.-N., 2716W 

Bastin, J., 737F 

Basto, J. P., 2736F 

Basu, A., 3343F* 

Batai, K., 1009T*, 2014T 

Bates, L., 2405F 

Batey, A. Y., 2978T 

Bathgate, A., 153 

Batish, S. D., 63 

Batista, D., 300, 889W, 

3097W 

Batista, D. A. S., 935W 

Batlevi, Y., 2628W 

Battaglia, A., 881W*, 3050F 

Battaloglu, E., 201, 2948T 

Battelino, T., 2688F, 2710W 

Battersby, B., 327 

Battiston, E., 2799F 

Battle, A., 369*, 2372F 

Batzer, M. A., 600F, 3270T 

Batzoglou, S., 397 

Bauchet, M., 2223W 

Baudouin, V., 324 

Bauduer, F., 716T 

Bauer, A., 132 

Bauer, C. P., 2102F 

Bauer, J., 2557T 

Bauer, J. W., 297 

Bauer, M., 1176W 

Bauer, P., 684T*, 1200W, 

1233W 

Bauer, T., 236 

Bauernhofer, T., 1115F 

Baugher, J., 3374W 

Baujat, G., 915W, 3129W 

Baumann, C., 3172F 

Baumert, J., 1659T 

Baur, J., 534W 

Baurecht, H., 1939T, 1942T, 

2226W 

Bauwens, M., 539F 

Baux, D., 2947W 

Bauzon, F., 615T 

Bavdekar, A., 700T, 2803W 

Bawcom, A., 730T 

Baxter, A., 3167W 


Baxter, S., 248, 1676T*, 

2021F 

Baxter, T., 2221T 

Bayés, M., 54, 2303F, 

2326T, 2578T 

Bayet, B., 2002T 

Bayetti, K., 794W 

Baylor-Hopkins Center for 

Mendelian Genetics, 

2908W 

Baylor-Hopkins Center for 

Mendelian Genomics, 

360, 2798T, 2883F 

Bayoumi, R., 160 

Bayrak-Toydemir, P., 225 

Baysal, B. E., 3294T*, 3523T 

Bazett-Jones, D., 1050W 

Bazin, A., 77 

Bazin, D., 2759T 

BCAC, 209 

Bchetnia, M., 778W 

Beadling, C., 1237T 

BEAGESS Study Investigators, 

2190W 

Beales, P., 324, 2755W, 

3240F 

Beales, P. L., 216, 219, 

2955F, 3211W 

Bean, L. J., 2069F 

Bean, L. J. H., 253, 1349W, 

3042F 

Beasley, E., 133, 1232F, 

3670W 

Beatty, S., 1897T 

Beaty, K. G., 3344W* 

Beaty, T., 1076F, 2043W, 

2057F, 2325W 

Beaty, T. H., 1425T, 1472W, 

1512T*, 1558F, 1900T, 

2249F, 2346W, 3609F 

Beauchamp, C., 1982F 

Beaudet, A. L., 314, 430W, 

432W, 759W, 898T, 

1735W, 1742W, 1757W, 

1761W, 2403W 

Beaudoin, M., 1906T, 2319W 

Beaulieu, C. L., 701F, 

2800W* 

Beck, C. R., 428W* 

Beck, L. A., 1900T 

Beck, T., 1093T, 1256F 

Beck, T. F., 834F, 839F, 

2678T* 

Becker, A. B., 1465F 

Becker, C., 2861T 

Becker, D. M., 1652T, 1710T 

Becker, E. B., 2649W 

Becker, F., 857W 

Becker, J., 806F, 2088W* 

Becker, L. C., 1652T, 1710T 

Becker, R. C., 1594T 

Becker, T., 106, 1332T, 

1423F 

Beckhaus, T., 782W 

Beckman, K. B., 2372F 

Beckman, L., 753T 

Beckmann, J. S., 62, 110, 

299, 1387F, 1800F, 

2090F, 2458T 

Beckmann, M., 3153W 

Beckmann, N. D., 62, 299 

Beck-Peccoz, P., 2701W 

Bedard, P. L., 135, 1824F 

Bedford, J. S., 948T 

Bedja, D., 240 

Bedoya, G., 3327T, 3360T 

Bee, G., 3717F 

Beecham, A., 1635T, 2330F 

Beecham, A. H., 270*, 

1638T, 2049W 

Beecham, G., 347, 1871F, 

2330F, 2603F, 2637W 

Beecham, G. W., 344, 

1571W*, 1644T, 1957T, 

2498F, 2583W, 2586W 

Beekman, M., 119, 1308T, 

1436W, 2035T, 2076W, 

2080T, 2116T 

Been, L., 474W* 

Been, L. F., 1933T 

Beer, M. A., 258, 545F 

Beery, T., 1860F 

Beesley, J., 210 

Beetz, C., 2930T* 

Beg, A. A., 2470T 

Beg, M. B., 871W 

Begay, T., 988T 

Begemann, M., 3111W 

Beggs, A., 2811F 

Beggs, A. H., 1769W, 

3219W 

Beggs, W., 3303T 

Bego, T., 3286F 

Beguin, S., 2674W 

Begum, F., 253, 1438F* 

Behera, B., 3207W 

Behr, E. R., 86, 2699T 

Behrendtz, M., 1023W 

Behrens, F., 2160W 

Behrens, T., 342 

Behrens, T. W., 306, 2091W 

Beier, D. R., 825F 

Beierbach, A., 2474F 

Beinat, M., 325 

Beiraghi, S., 821F* 

Beirnes, K., 2849T 

Beiser, A., 123 

Beiswanger, C., 966T 

Bejerano, G., Session 5, 286* 

Bekele, E., 3322F 

Bekheirnia, M. R., 314, 

1742W 

Bekris, L. M., 2646W* 

Belaidi, H., 2306F 

Belangero, S. I., 2533T, 

2534F, 3045W 

Belay, G., 3303T, 3338W 

Beldjord, C., 890T 

Beleggia, F., 3214F 

Beleza, A., 1968W, 2017T 

Beleza, S., 2223W, 3318T* 

Beleza-Meireles, A., 201, 

2948T 

Belgian Neurology 

Consortium and 

European Early-Onset 

Dementia Consortium, 

2815W 

Belgrader, P., 3011T 

Belgrave, D., 2211W 

Belitsky, G., 1180T 

Bell, D. A., 257 

Bell, G. I., 2192F 

Bell, J., 583F, 3453T 

Bell, J. T., 44, 2029T, 3441T 

Bell, M. J., 1884W* 

Bell, R., 293, 1783W 

Bellam, N., 1292W 

Belleau, P., 1951T* 

Bellis, C., 533F, 1912T, 

2146T, 2308T* 

Bellivier, F., 259 

Bello, S. M., 2675T 

Bellon, L., 493F 

Bellone, M., 1036T 

Bellone, S., 2827W 

Bellos, E., 429F* 

Bellucco, F. T. S., 2534F 

Bellus, G., 3244F 

Belman, A., 1924T 

Belmont, J., 1688T 

Belmont, J. W., 337, 1646T, 

2158T, 2189F 

Belousov, A., 242, 3574W 

Below, J., 223 

Below, J. E., 49, 2740W* 

Belton, J., 255 

Belton, R. L., 2185T 

Beltrami, A., 2809W 

Beltrami, C. A., 2809W 

Beltramo, J., 3362W 

Belucco, F. T., 3045W 

Belyantseva, I. A., 2663T 

Bembi, B., 692T*, 2809W 

Béna, F., 67, 2937F 

Ben-Abdallah-Bouhjar, I., 

944T* 

Benachi, A., 72, 894T 

Ben-Ami, I., 3002T 

Benamor, I. M., 3169W* 

Benard, L., 1698T 

Ben-Asher, E., 53, 2875W 

Benatar, M., 347, 2637W 

Ben Avraham, D., 3336T 

Benayed, R., 1252T 

Bencaz, A., 1081T 

Ben Charfeddine, I., 1751W, 

2744T 

Benchek, P. H., 1575T* 

Ben-Chetrit, E., 746T 

Bender, F., 685F 

Bender, H. A., 168 

Bendik, E., 1787W, 1853F 

Bendjilali, N., 589F* 

Bendsen, E., 805F 

Bendtsen, J., 3528W 

Bene, J., 3283F 

Beneken, C., 1115F 

Benet-Pagès, A., 2922F 

Bengesser, K., 939W, 

2791W 

Benhamed, S., 330 

Benhamou, S., 1496W 

Benistan, K., 772W, 890T 

Benit, P., 3241W 

Benitez, J., 27, 206, 1150T, 

1213T 

Benjamin, D. J., 2505W 

Benjamin, E. J., 1585T, 

1677T

Benjamin, E. R., 1684T 

Benjamin, J. S., 2677W* 

Benjaminy, S., 1802F* 

Ben-Khelifa, H., 944T 

Benko, E., 522W 

Benlier, N., 1935W, 1938W 

Benlloch, S., 205, 1148F, 

1011W 

Benner, A. T., 2998T 

Bennet, R., 3278W 

Bennett, C., 214 

Bennett, D., 2488T, 3450T 

Bennett, D. A., 343, 380, 

3417T 

Bennett, J., Session 23, 

806F* 

Bennett, R., 1209W, 1237T, 

1246T, 3714W, 3717F, 

3719F 

Bennetts, B., 3167W 

Benoist, C. O., 528W 

Benoist-Lasselin, C., 763W 

Benoit, V., 3098F, 3181W* 

Ben-Omran, T., 8, 2899W 

Benowitz, N. L., 642T 

Ben-Pazi, H., 2447F 

Ben-Salem, S., 160 

Ben-Shachar, S., 704T* 

Bensussan, A., 29, 1062W 

Bentham, J., 3382F* 

Bentley, A., 1515T*, 3533F 

Bentley, D., 1238F, 2939T, 

3663F 

Benton, G., 2089T* 

Benton, G. M., 1223F, 1620T 

Benton, M., 1042T, 1912T 

Benyahia, B., 889W 

Benyamin, B., 2407T 

Benzacken, B., 901W, 

973W, 2784F 

Ben-Zeev, B., 53, 660T, 

731F 

Berardinelli, A., 1776W 

Berberich, S., 1875F, 1882T 

Berberich, S. L., 1344T 

Berboso, A. D., 2975T 

Berchuk, A., 210 

Bercovich, D., 1165T* 

Berenson, G. S., 2274W 

Berezney, R., 82 

Berg, A., 309, 3264T, 3267T 

Berg, A. S., 1016F, 1107W 

Berg, C., 1012T 

Berg, D., 1119W 

Berg, J., 645T, 1082F, 1724W 

Berg, J. P., 576W 

Berg, J. S., 231 

Bergadá, I., 361 

Bergamin, G., 2799F* 

Bergamin, N., 2809W 

Bergan, S., 3614W 

Bergantino, F., 1060T 

Bergbaum, A., 906T 

Berge, K. E., 1607T 

Bergen, A. W., 642T* 

Berger, I. M., 1612T 

Berger, K., 2568W 

Berglund, L., 619T 

Bergman, M., 1857F* 

Bergmann, P., 2769F 


Bergmann, S., 62, 1281T 

Bergstrom, D., 983F 

Bergstrom Lucas, A., 975W, 

3726W* 

Berhane, Y. B., 1108T 

Béri-Dexheimer, M., 2770W 

Berkofsky-Fessler, W., 242 

Berkovic, S. F., 203, 2741T, 

2897T, 2898F 

Berletch, J. B., 379 

Berlin, D., 966T 

Berman, J. R., 3690W* 

Bermúdez, M., 2990T 

Bern, O., 3002T 

Bernabe-Gelot, A., 2674W 

Bernal, W., 535F* 

Bernaldez, R., 1131W, 

1141T 

Bernal Villegas, J., 2990T 

Bernard, A., 2444F 

Bernard, D., 2701W 

Bernard, G., 2786T, 2797W 

Bernard, N., 3723F 

Bernard, O., 325 

Bernardinelli, L., 2039F 

Bernardini, C., 2235W 

Bernardini, L., 881W, 943W, 

2777T, 3050F 

Bernardo, D. V., 2232W, 

3295F* 

Bernbaum, J. B., 2443T 

Berndt, S., 205, 2080T, 

2241W 

Berndt, S. I., 108, 1148F, 

2090F*, 2202W 

Bernert, G., 201, 2948T 

Bernier, D., 954T 

Bernier, F., 1052F, 3665F 

Bernier, F. P., 3095W, 

3127W, 3141W, 3173W 

Bernier, G., 1226F 

Bernier, R., 10, 14, 299, 

2406W, 2439W 

Berninger, V. W., 2549F 

Bernstein, A., 1289W, 

1301W, 1414F, 1455T 

Bernstein, B., 380 

Bernstein, K. E., 130 

BernsteinJon, J., 2479T 

Beroud, C., 3610W 

Beroukhim, R., 266 

Berry, D., 2097W 

Berry, D. J., 271 

Berry, F. B., 2474F 

Berry, G. T., 326 

Berry, M., 3648W 

Berry, R. J., 1304W 

Berry, S., 725F* 

Berry, S. A., 774W 

Berson, E. L., 1756W 

Berstein, L., 2202W 

Bertelsen, S., 340, 2582F 

Berthele, A., 2086T 

Berthet, P., 1212W 

Bertin, T., 411 

Bertin, T. K., 2854W 

Bertini, E., 54, 943W, 2777T 

Bertola, D. R., 439F, 895W, 

2232W, 3152F, 3160F, 

3184F, 3250F 


Bertolin, C., 1732W* 

Bertoni, A., 1661T 

Bertram, L., 2520W 

Berulava, T., 3524T* 

Berutti, R., 113, 157, 177, 

547F, 1451W, 2001W 

Berwouts, S., 1874F 

Besnard, T., 2947W 

Besse, A., 2942T 

Bessee, A., 676T 

Bessenyei, B., 3070F 

Bessert, D., 2664F 

Bessières, B., 77, 403 

Bessling, S. L., 79, 818F 

Betancourt, M., 1022F 

Betancur, C., 901W 

Betley, J., 366, 1176W, 

3663F 

Betta, P. G., 1153T 

Bettella, E., 1755W*, 2795T 

Betti, M., 1153T 

Betting, L. E., 2233T 

Bettinger, J. C., 640T 

Betz, R. C., 106 

Beunders, G., 98 

Beuten, J., 314, 1742W 

Bevan, L., 2138F 

Bevan, S., 1313W 

Bevans, M., 711F 

Beverloo, H. B., 980T 

Bevillard, J., 2877F 

Bevins, C. L., 449F 

Bevot, A., 3109W 

Beyan, C., 1136F 

Beygo, J., 2595W, 3496T* 

Bezerra, M. A., 426W 

Bezerra, M. A. C., 2718F, 

2751F 

Bezieau, S., 3066F, 3233W 

Bézieau, S., 1204T 

Bhagat, G., 1031F 

Bhagwat, A. M., 2382W 

Bhakta, M. S., 1625T 

Bhamani, F. I., 871W* 

Bhandari, A., 480W 

Bhangale, T., 1539T 

Bhangale, T. R., 2091W 

Bhanwer, A., 1993T* 

Bhanwer, A. J. S., 1703T 

Bhardwaj, A., 2726T* 

Bhaskar, A., 182 

Bhat, M., 2644T 

Bhat, V., 2776W 

Bhati, S., 2692W 

Bhatia, G., 89, 350, 1577W, 

3407W* 

Bhatia, K., 2581T 

Bhatia, T., 2382W 

Bhatnagar, S., 984W 

Bhatt, D. L., 317 

Bhattacharjee, S., 1372F* 

Bhattacharya, S., 3271F 

Bhattacharya, S. S., 2183F, 

2966T 

Bhatti, A., 3078F 

Bhatti, M. A., 2959W 

Bhatti, S., 630T 

Bhave, G., 3622W 

Bhidayasiri, R., 2749W 

Bhide, S., 1758W 

Bhonker, Y., 2919F 

Bhosle, S., 2005T 

Bi, D., 2419T 

Bi, W., 432W, 893W, 898T, 

952T*, 2395T 

Bian, H., 242 

Bianba, B., 3317W 

Bianchi, D., Session 79, 

765W 

Bianchi, l., 2695W 

Bianciardi, L., 2604W 

Bibat, G. M., 2962W 

Bibi, S., 1748W 

Bibikova, M., 596W, 1238F*, 

3451T 

Bicalho, M., 2404T 

Bick, A. G., 1677T* 

Bickel, J. P., 1836F 

Bickley, V., 967W 

Bidichandani, S. I., 381 

Bidlingmaier, M., 2080T 

Bieber, M., 1802F 

Bieche, I., 1212W 

Bielak, L. F., 2275T 

Bielawny, T., 3276T 

Bielecki, R., 1093T 

Bielinski, S. J., 618T, 1351F 

Bierings, M. B., 3164F 

Biernacka, J. M., 605T*, 

1426F, 2516F 

Bierut, L., 2114F, 2582F, 

2598W, 2650T 

Bierut, L. J., 2170T, 2535W 

Biesecker, B. B., 316* 

Biesecker, L. G., Session 

73, 33, 316, 358, 674T, 

1690T, 1696T, 2470T 

Bieth, E., 572W, 1796W 

Biewald, M., 1272W 

Bigdeli, T. B., 2500T*, 2594F 

Bigelow, A., 1441F* 

Bigham, A. W., 3290W*, 

3360T, 3380W 

Bignon, Y.-J., 1212W 

Bilan, F., 77 

Bilbao, J. R., 1330F 

Bilder, R. M., 639T 

Bilgen, R., 2924T 

Bilguvar, K., 2924T, 3132F 

Billaud, J., 3560W, 3677F* 

Billings, L., 249* 

Biloglav, A., 1023W 

Binder, E. B., 1422T, 2383T, 

2483F, 3480T 

Bindoff, L. A., 2451W 

Bing, N., 1491T 

Bini, L., 2695W 

Binia, A., 3466T, 3486T 

Bin-Khamis, G., 2734W 

Binkley, G., 3612W 

Binquet, C., 1293T 

Bint, S., 906T 

Birayavci, C., 1164W, 1178F 

Biray Avci, C., 1166F*, 

1172F 

Birch, D. G., 3234F 

Birch, P. H., 1840F, 1846W 

Birch, S., 2167T 

Bird, A. C., 2072F 

Bird, L., 3120F 



Bird, T. D., 1753W 

Birk, O. S., 2931F* 

Birk, R. Z., 2931F 

Birkeland, S. R., 339 

Birkenhager, R., 3203W* 

Birkenhäger, R., 2753T, 2829F 

Birmingham, D., 458W 

Birnbaum, R. Y., 1995W* 

Birney, E., 35, 3732W 

Birzele, F., 242 

Bis, J. C., 1445W, 1585T, 

1592T*, 1599T, 1653T 

Bischoff, F. Z., 1255T 

Bisgaard, H., 2167T, 2168F 

Bisgaard Pedersen, A.-M., 

889W 

Bishay, D. L., 968T 

Bishop, B., 1729W 

Bishop, D. T., 211, 213 

Bishop, J., 3719F* 

Bishop, K., 664T, 1983W 

Bishop, P. N., 2072F 

Bishopric, N. H., 86 

Bissig, K., 165 

Bitner, M., 126 

Bitoun, E., 2649W 

Bitoun, P., 2784F* 

Bitter, H., 3574W 

Bitti, P., 2039F 

Bivina, L., 3151W 

Bizet, A., 324 

Bizon, C., 170, 231, 1437T 

Bjeda, D., 80 

Bjork, B. C., 825F*, 2670F 

Bjornsson, H. T., 3097W 

Blach, C., 1636T 

Blach, C. P., 2946F 

Black, G. F., 2003F 

Black, P. M., 266 

Blackburn, A. N., 2495F 

Blackburn, E., 96, 112 

Blackett, P. R., 1933T 

Blackman, S., 1322W, 

2953W 

Blackwell, T., 1373W*, 

1389T, 1513F, 2375F 

Blackwell, T. W., 176, 

1923W, 2308T, 2339F 

Blackwood, D., 2590T 

Black-Ziegelbein, E. A., 60 

Blair, E., 2939T 

Blair, I. P., 2816T 

Blair, J. D., 3429T, 3445T* 

Blair, M., 3654W 

Blake, T. L., 664T 

Blakemore, A. I. F., 1432F, 

2162F 

Blakesley, R., 1515T 

Blancato, J., 3080F 

Blanchard, C., 716T, 841F 

Blanche, H., 2303F 

Blancher, C., 3435T 

Blanco, A., 1059W 

Blangero, J., Session 8, 

176, 533F, 1280W, 

1282F, 1406W, 1458T, 

1513F, 1912T, 1923W, 

2061W, 2146T, 2308T, 

2309F, 2339F, 2589W, 

2651F, 3434T 


Blank, R. D., 710T* 

Blankenberg, S., 275, 1669T 

Blanton, S., 57 

Blanton, S. H., 1635T, 

1638T*, 1871F 

Blasco, M., 546W 

Blaser, S., 675F, 3013T, 

3186F, 3196F 

Blaszkewicz, M., 1335T 

Blattmann, P., 1630T 

Blattner, F., 3671F 

Blauw, H. M., 431F 

Blazer, K., 321* 

Bleazard, T., 3259F* 

Blekhman, R., 537F*, 2029T 

Blelloch, G., 3376F 

Bleyer, A., 322, 1725W 

Blitzer, M., 1729W 

Block, G. J., 55, 2224T* 

Bloem, A. C., 3164F 

Blomenkamp, K., 735F 

Blomqvist, C., 1006T, 

1117T, 1171T, 1265F 

Blondal, T., 1194W 

Bloom, M., 2452T 

Bloom, R. J., 2468F, 3659F* 

Bloss, C. S., Session 9, 

146*, 1839W 

Blot, W. J., 2202W 

Blouin, J.-L., 2877F* 

Blow, M. J., 4, 407 

Blum, C., 2262W 

Blum, M. G. B., 3356W 

Blümel, P., 3111W 

Blumenfield, J., 3210F 

Blumenstiel, B., 322, 

1725W*, 3711F 

Blumenthal, I., 68, 70, 

554W* 

Blumentritt, C., 2557T 

Blumkin, L., 2447F 

Boackle, S. A., 1979F 

Boardman, L., 1267T* 

Boaretto, F., 1732W, 2708T, 

2799F 

Bobadilla-Morales, L., 

3188F 

Bober, M. B., 2855T, 3150F* 

Boca, S. M., 1372F 

Bochukova, E., 43 

Bock, H.-G., 898T 

Boczek, N. J., 2885T* 

Bodamer, O. A., 297 

Bóday, A., 2865F 

Boddaert, N., 202, 329, 

522W, 3240F 

Boddicker, N., 2717T 

Bode, A., 262 

Bodemer, C., 128*, 3140F 

Bodenhofer, U., 95* 

Bodereau, V., 3157W, 

3241W 

Bodily, P., 3561F 

Bodmer, W., 181 

Bodo, J., 283, 3303T, 

3338W 

Bodria, M., 845F 

Bodzioch, M., 2761W 

Boeckxstaens, G. E., 

2088W 

Boehm, C., 227 

Boehnke, M., 46, 88, 117, 

176, 280, 1389T, 1448W, 

1452T, 1513F, 1608T, 

2090F 

Boehringer, E., 3044F 

Boeke, J. D., 504W 

Boekholdt, S. M., 1604T 

Boengers, E. M. H. F., 216 

Boerkoel, C., 359, 2442W, 

2610W 

Boerkoel, C. F., 755W, 

2682F, 2849T, 2938W, 

3543F 

Boerkoel III, C. F., 2870T* 

Boerwinkle, E., 121, 170, 

174, 183, 187, 192, 

272, 349, 648T, 1445W, 

1508W, 1520W, 1585T, 

1592T, 1599T, 1932W, 

2577W, 2880F, 2934F, 

3576W, 3597F 

Boese, B. J., 2301W 

Boesten, I., 708T 

Boettger, L. M., 437F 

Boezen, H. M., 1330F 

Bofferding, K. M., 2740W 

Bogardus, C., 1300F, 

1917W, 2018F, 2038T 

Bogdanovic, R., 216 

Bögershausen, N., 2944W* 

Boggan, J., 2151W 

Boggs, B., 330 

Bohlega, S., 2743W 

Böhm, B., 2160W 

Bohm, J., 328, 2681T* 

Bohn, J. M., 3635F 

Bohnsack, J., 2143T 

Bohorquez, S., 951W, 

3074F 

Bohossian, N., 624T 

Bohr, V. A., 2244W 

Boileau, C., 56, 1607T, 

2266T, 3341W 

Boissin, C., 2752W 

Boivin, M., 2545T 

Boiy, T., 3193W 

Bojanowski, M., 1670T 

Bojesen, S. E., 206, 210 

Bokhoven, H., 672T 

Boks, M. P. M., 431F, 

2553W, 2661W, 3474T 

Boland, J., 30, 1218W, 

1517W, 3683F* 

Bole-Feysot, C., 104, 324, 

403, 2808F 

Boles, J. W., 970T 

Bolon, B., 2668W 

Bolz, J. E., 3550W 

Bolze, A., 365* 

Boman, H., 2451W, 3215W 

Bombard, A., 3016T 

Bombard, A. T., Session 79 

Bombard, Y., 142, 1841W* 

Bommakanti, K., 1601T 

Bona, G., 2827W 

Bonafè, L., 164, 3190F 

Bonaldi, A., 874T, 882T*, 

3250F 

Bonalumi, A., 870T, 3055W 

Bonassi, S., 1153T 

Bond, D., 3694W 

Bondon-Broders, F., 842F 

Bondurand, N., 842F, 843F, 

2727F* 

Bondy, C. A., 1743W 

Bonet, C., 987W 

Bonetti, M., 215 

Bongers, E. M., 100 

Bongers, E. M. F. H., 2925F 

Bongers, E. M. H. F., 80 

Boni, C., 1759W 

Bonilla, E., 1022F 

Bonin, M., 1200W*, 3109W 

Bonithon-Kopp, C., 1293T 

Bonkowsky, J., 2951T 

Bonnefont, J.-P., 72 

Bonnefont-Rousselot, D., 

1607T 

Bonnemann, C., 711F, 

2945T 

Bonnen, P., 676T, 2942T* 

Bonner, J., 463F 

Bonnet, C., 2770W 

Bonnet-Wersinger, D., 

2679F 

Bonneux, S., 2104T 

Bonney, E., 3446T 

Bonnière, M., 77, 403 

Bono, S., 71 

Bonomo, J. A., 2310W 

Bontrop, R., 285 

Bontrop, R. E., 3266W 

Bonyadi, M., 57 

Booker, J., 688T 

Boomsma, D., 434W, 

2097W 

Boomsma, D. I., 2175W 

Boon, L. M., 83, 1015T, 

1611T 

Boone, P. M., 430W* 

Boonvisut, S., 2009F 

Boonyaratanakornkit, J., 

3684W 

Boos, H. B. M., 2526W 

Booth, F., 954T 

Booth, F. A., 2422T 

Booth, K., 2867T 

Boquett, J. A., 3031T 

Boran, G., 1624T 

Boraska, V., 2522F* 

Borck, G., 105* 

Borecki, I., 18, 1210T, 

2040W 

Borecki, I. B., 1641T, 1650T, 

1661T, 1913F, 2275T 

Borel, C., 3516T 

Borenstein, E., 10 

Borgan, C., 893W 

Borges, M. G., 2394W, 

2876T 

Børglum, A., 2369F 

Børglum, A. D., 2699T 

Borgman, S., 1860F 

Boright, A. P., 2109W 

Borja, J., 2036F 

Borjas, L., 3364F, 3402T 

Borlido, C., 2408F 

Bornman, M. S. R., 1085F 

Bornstein, E., 957W

Borochowitz, Z. U., 3202F 

Boroevich, K. A., 396, 

2051F 

Boronat, S., 3208F 

Borowsky, M., 326 

Borrel, C., 561F 

Borrell, M., 1651T 

Borrero, E., 3155W 

Borsani, G., 3256F 

Borsuk, LA., 1165T 

Bortolai, A., 3045W 

Bortolini, C., 3327T 

Bose, P., 2069F, 2312F 

Bosl, G., 998F 

Bosley, A., 1088F, 2833W 

Bosley, T., 2997T 

Bosman, A., 807F* 

Bosoi, C. M., 1910F 

Boss, J., 3310F 

Bossé, Y., 1465F, 1655T, 

1947W 

Bostan, O., 1708T 

Boster, J., 2223W 

Bostick, M., 3727F* 

Boston, J., 1316W, 1377T, 

1671T, 1928F, 2037W 

Botigué, L. R., 3345T 

Bottani, A., 2937F 

Bottiglieri, T., 168 

Bottomley, M., 2852T 

Bottomley, W., 45 

Boualga, K., 1268F 

Boucher, G., 2319W 

Bou Dagher-Kharrat, M., 

3349F 

Boudes, P., 732T, 745F 

Boudes, P. F., 772W 

Boudreau, R. L., 2636F* 

Bouffard, G., 1515T 

Bougeard-Denoyelle, G., 

1090T, 1222T 

Boughey, J. C., 1247F 

Bouhlal, Y., 501F*, 1687T 

Bouhnik, S., 2234F 

Boukhris, A., 2820F 

Boulanger, S., 3216F*, 

3218F 

Bouligand, J., 894T 

Boulling, A., 854F* 

Bouquillon, S., 299 

Bouraoui, S., 2744T 

Bourassa, C., 1670T, 2306F 

Bourbon, M., 1968W, 2017T 

Bourgeois, B. F. D., 266 

Bourgeron, T., 259 

Bourque, G., 3439T 

Bourrat, E., 128 

Bourredjem, A., 1293T 

Boussofara, L., 2744T 

Boutaoui, N., 3449T 

Boute, O., 2002T 

Boute-Benejean, O., 3172F 

Bouvet, R., 2126F 

Bouvier, R., 3129W 

Bouzigon, E., 1361W, 

1461T, 1941W, 2079W, 

2248T 

Bova, G. S., 1242W 

Boven, L. G., 1619T 

Bovolenta, P., 2810T 


Bowcock, A., 2581T 

Bowcock, A. M., 154, 1952F 

Bowden, D., 1706T, 2332T 

Bowden, D. W., 178, 1648T, 

1661T, 1879T, 1888T, 

2310W 

Bowden, S., 458W 

Bowdin, S., 1704T, 1738W, 

3142F* 

Bowdish, B., 3530W 

Bowen, B. M. P. M., 2045F* 

Bowen, M., 17 

Bower, A., 1856F 

Bowes, J., 2160W 

Bowling, B., 1860F*, 1861F 

Bowling, K., 2556W 

Bowne, S. J., 3234F 

Bowton, E., 247, 647T 

Boxer, A. L., 2639F 

Boyaci, H., 2924T 

Boyadjiev, S., 1791W 

Boyadjiev, S. A., 2151W 

Boyadjiev Boyd, S. A., 

3070F, 3151W* 

Boyanova, O., 3481T 

Boyar, F., 876T 

Boyar, F. Z., 3522T* 

Boyce, J., 3700W 

Boycott, K., Session 74, 

198 

Boycott, K. M., 131, 701F, 

1775W, 2790F, 2794W, 

2800W 

Boyd, B., 3, 2998T 

Boyd, J. H., 1632T 

Boyd, K., 1108T 

Boyden, L. M., 2915T* 

Boyer, J., 1845W 

Boyer, T. G., 125 

Boysen, C., 3528W*, 3641F, 

3662W 

Bozon, V., 136 

Bozorgmehr, B., 2436W* 

Bozza, M., 3050F* 

Bozzao, C., 760W 

Bozzi, I., 2404T 

BPC3, TNBCC, and BCAC, 

1150T 

Braastad, C. D., 3522T 

Bracci, P., 1152W, 3623F 

Bracci, P. M., 2055W 

Brackett, D., 474W 

Bradfield, J., 319, 1915T*, 

1996T, 2067W, 2121W, 

2229W 

Bradford, Y., 247, 1447F 

Bradley, A., 3507T 

Bradley, B., 2420F, 2483F 

Bradley, D. T., 2843T 

Bradley, E. J., 197, 2909T 

Bradley, F., 3245W 

Bradley, M., 1939T 

Bradley, T., 1133F, 3186F 

Bradman, A., 3458T 

Bradman, N., 3322F 

Bradrick, S., 2454W 

Bradshaw, P., 1047W* 

Bradshaw, P. S., 1046F 

Brady, S. M., 2702T 

Bragat, A. C., 745F 


Brage, S., 2359T 

Bragg-Gresham, J., 113*, 

1568W 

Bragin, E., 291 

Brahmachary, M., 3516T 

Brainbridge, M. N., 1761W 

Brais, B., 2797W, 2900T 

Bralten, J., 1498F 

Brambilla, P., 624T, 2095T 

Brancati, F., 131, 2760F 

Branch, S., 136 

Branco, C. C., 2288F 

Branco, M., 3019T 

Branco-Madeira, F., 2225F 

Brand, S., 1942T 

Brandalize, A. P. C., 3031T* 

Brandao, L. R., 2330F 

Brandl, E., 612T 

Brandon, J., 1359T 

Brandt, T., 3724W 

Brandt, W., 2833W 

Branham, K., 2135F 

Branham, K. E., 2183F, 

3234F 

Branson, H., 675F 

Brant, S. R., 1381F, 2319W 

Brar, B., 2978T 

Brar, H., 2978T, 3020T 

Brar, S., 2830W* 

Brasil, A. S., 3160F 

Brasington, R., 2047T 

Braslavsky, D., 361 

Brass, A., 2231F 

Brassat, D., 624T 

Bratanič, N., 2688F, 2710W 

Bratina, N., 2710W 

Bratton, E., 3038F 

Braun, T. A., 2750T 

Braun, T. R., 1933T* 

Braunholz, D., 204, 2958F* 

Brautbar, A., 187, 1688T* 

Braverman, A. C., 80 

Braverman, N., 722T* 

Braverman, N. E., 8 

Braverman, R., 238 

Bravi, C. M., 3362W 

Bravo, H., 2566T 

Bravo, H. C., 260 

Bravo, L. E., 3388F 

Braxton, A., 1742W 

Braxton, A. A., 1735W, 

1761W 

Bray, M. S., 2189F 

Bray, S. M., 1235F 

Brazilian Network Members, 

879W 

Brazma, A., 567F, 582W 

Bready, B., 3529F*, 3656W, 

3703F 

Breast Cancer Association 


Brebner, A., 673F, 705F*, 

706T, 719F 

Breda, C., 2641T 

Breden, F., 375 

Bredrup, C., 2451W 

Brefort, T., 515F 

Brehm, J., 3449T 

Breit, H., 830F 

Brem, R. B., 571F 

Breman, A. M., 432W 

Bremer, R., 1064F 

Bremer, S., 3614W 

Bremnes, R. M., 991T 

Brémont, F., 572W 

Brennan, C., 177, 3664W 

Brennan, C. A., 2329T 

Brennan, E. P., 2307W 

Brennan, K., 2042F 

Brennan, M., 2084F 

Brennan, P., 1012T, 1496W 

Brennand, K. J., 436W 

Brennecke, S. P., 2309F 

Brenner, S., 499F* 

Brenner, S. E., Session 4, 

362 

Bressac-de Paillerets, B., 

1158W 

Bressan, R. A., 2533T, 

2534F 

Bressman, S. B., 2801T 

Bresson, J. L., 129 

Breton, A., 3694W 

Breton, B., 3680W 

Brett, M. S., 2889F* 

Breu, H., 1232F, 3717F 

Breuhaus, B., 2778F 

Breuning, M., 2701W* 

Brewer, F., 884T 

Brewer, V., 3119W 

Brezina, P., 78* 

Brezina, P. R., 2998T 

Briand, A., 1796W 

Briand-Suleau, A., 843F, 

894T*, 3157W, 3241W 

Briani, C., 2799F 

Briault, S., 3246F 

Brice, A., 29, 2638T, 2770W, 

2820F 

Briceno, I., 951W*, 3074F 

Brick, K., 417F*, 592W 

Brick, L., 103 

Bridges, S. L., Jr., 2047T 

Briggs, F., 1415W, 1924T 

Briggs, F. B. S., 1289W, 

1301W, 1414F, 1455T* 

Briley, D., 630T 

Briley, L., 630T 

Brilhante, M. J., 2288F 

Brilhante, T. B., 3421T 

Brilhante, V., 327 

Brill, P., 3128F 

Brilliant, M., 2297F, 3622W 

Brinkerhoff, C. D., 1071W 

Brinza, D., 1232F, 3670W* 

Briollais, L., 1500T* 

Brion, M.-J., 1626T 

Brisset, S., 894T 

Brisuda, A., 1012T 

Britel, L. K., 398 

Britto, J. A., 2859F 

Brkanac, Z., 2406W 

Brockman, M., 3688W 

Brockmann, G., 2251T 

Brockschmidt, F. F., 106, 

2557T 

Brodesser, S., 2869W 

Brody, J., 584W, 1284T, 

1346W, 1503T, 1585T*, 

1592T, 1599T 



Broeckelmann, E. M., 837F* 

Broeckling, C., 1189T, 

1990T 

Broer, L., 2175W 

Brofferio, A., 1702T 

Brohawn, D., 2599T 

Brohi, Q., 2075F, 2402F 

Broly, M., 2660F 

Bromhead, C., 2741T 

Bronson, P. G., 2091W* 

Brook, A., 2114F 

Brook, M., 1150T 

Brookes, A. J., 3610W 

Brooks, A., 127 

Brooks, A. I., 2170T 

Brooks, B., 2183F 

Brooks, B. P., 664T 

Brooks, J., 1167W 

Brooks, M., 822F, 1774W 

Brooks, M. J., 827F* 

Brooks, S., 316 

Broomer, A., 1237T 

Brophy, P., 419F 

Brosch, M., 580W 

Brosh, R. M., Jr., 2692W 

Brossard, M., 211, 1158W*, 

2248T 

Brothers, K. B., 247, 631T* 

Broussolle, E., 2638T 

Brouwer, O., 2909T 

Brovedani, P., 3050F 

Brower, A., 725F, 3530W* 

Brown, A., 546W, 1227W, 

1440T* 

Brown, A. M. K., 135*, 

1256F 

Brown, C., 372, 3514T, 

3734W 

Brown, C. D., 614T 

Brown, D., 493F, 738T* 

Brown, E. E., 2046W 

Brown, J., 686T, 1159T 

Brown, K., 3133W 

Brown, K. M., 212 

Brown, L., 3446T, 3688W 

Brown, M., 3682W 

Brown, M. A., 152, 209, 

2053T 

Brown, M. P. S., 36* 

Brown, M. R., 202 

Brown, N. J., 606T 

Brown, S., 3446T* 

Brown, S. G., 978T 

Brown, S. J., 1216T 

Brown, W. T., 1986W, 2449T* 

Browne, V. A., 3290W 

Brown-Ford, S., 587F* 

Brown-Gentry, K., 1377T, 

1671T, 1713T, 1928F, 

2037W*, 2401T 

Brown-Gentry, K. D., 1316W 

Browning, B. L., Session 75, 

1479T, 1485T, 1487W*, 

1537F 

Browning, S. R., 1479T*, 

1485T, 1487W, 1537F 

Brownstein, C. A., 1769W*, 

1799W 

Brownstein, Z., 2914W, 

2919F 


Broxholme, J., 2939T 

Brožková, D., 2745F* 

Bruat, V., 31, 2266T, 3268F, 

3341W 

Bruce, C., 3694W 

Bruce, I. N., 2160W 

Bruchim, R., 1303F* 

Bruckdorfer, K. R., 1626T 

Brucker, S., 3153W 

Bruckmann, C., 2058W 

Brueton, L., 300 

Bruford, E., 3651F* 

Brüggemann, N., 200 

Brüggenwirth, H., 3650W 

Bruinenberg, M., 2282F 

Brumelle, J., 3512T 

Brummett, B. H., 1594T, 

2481W 

Brunak, S., 2241W 

Bruneau, N., 2581T 

Brunetti-Pierri, N., 127, 164, 

433F, 735F 

Brunner, H. G., Session 74, 

Session 81, 80, 97, 100, 

102, 124, 125, 214, 

1734W, 1749W, 2863W, 

2925F 

Bruno, M. K., 2581T 

Bruno, V., 1330F 

Brunoni, A. R., 2540F 

Brunoni, D., 2484W, 2485T, 

2540F, 2863W, 3131W 

Bruns, G. A. P., 82 

Brunzell, J. D., 1605T 

Brusco, A., 550W, 790W 

Brusius-Facchin, A. C., 747F 

Brussino, A., 550W 

Brüstle, O., 236 

Bruzel, A., 370 

Bruzelius, M., 1651T 

Bryan, N., 165 

Bryans, N., 3672W 

Bryc, K., 178* 

Bryne, E., 3096F 

Bryois, J., 560W* 

Bryson, L., 1724W* 

Brzoska, P., 1068W 

Brzustowicz, L. M., 2381F, 

2426F, 2467T, 2523W, 

2544W 

Bshara, W., 3428T 

Bubela, T., 1802F 

Bucasas, K., 2542T 

Bucasas, K. L., 2189F, 

2336F*, 2337W 

Buchan, J. G., 220*, 2860W 

Buchanan, D. D., 141, 

1067F, 1206W 

Buchanan, T. A., 1916F 

Buchert, R., 2557T 

Buchholz, S., 330 

Buchkovich, M., 292* 

Buchkovich, M. L., 46, 

2012F 

Buchner, N., 1279T 

Buck, D., 2086T 

Buckett, W., 2842W 

Buckley, H., 3333T 

Buckley, K., 1138T 

Buckley, M. F., 214, 2151W 

Buckley, N., 3471T 

Buckstein, M., 1309F 

Bucourt, M., 77 

Budak, B., 594W 

Budde, B. S., 2861T* 

Budde, J., 2582F, 2598W 

Budenz, D. L., 2154W, 

2240F 

Budman, D., 1133F 

Budowle, B., 3544W 

Budunova, I., 1181F 

Bueno, D. F., 813F, 814F, 

852F 

Buermans, H., 813F 

Buers, I., 2759T 

Buffa, F., 509F 

Buffler, P., 2268W 

Buffler, P. A., 1924T 

Bugge, K., 404, 2215T, 

2671W 

Bugge, K. E., 387 

Buhay, C., 2880F 

Buhay, C. J., 1757W 

Buhler, E., 2457W, 2674W 

Bui, P., 873W 

Bui, P. H., 1029W* 

Buijs, A., 3164F 

Buil, A., 44, 546W*, 560W, 

561F, 583F, 1651T 

Builes, J. J., 3364F, 3402T 

Buitelaar, J., 1498F 

Buiting, K., 392, 872T, 

3496T, 3500T 

Buizer-Voskamp, J., 431F* 

Buizer-Voskamp, J. E., 

2526W 

Bukowski, R., 537F 

Bukshpun, P., 2389T 

Bukszar, J., 3442T, 3452T 

Bulhões, S. M., 2288F 

Bulik, C. M., 2522F 

Bull, S. B., 2109W 

Bullens, S., 763W 

Buller-Burckle, A., 2260T 

Bullitt, C., 3560W 

Bulman, D., 198 

Bulman, D. E., 131, 701F, 

2794W, 2800W 

Bulstrode, N. W., 303 

Bunce, C., 2072F 

Bundgaard, M., 3641F 

Bundo, M., 2435F 

Bungaard, M., 3662W 

Büning, C., 1942T 

Bunker, C. H., 1672T, 1673T 

Bunting, S., 763W 

Bunyan, D., 3161W 

Burbano, R. R., 1008W, 

1132T, 3421T, 3502T, 

3503T 

Burbidge, L. A., 1021T 

Burch, L. H., 606T 

Burchard, E. G., 158, 1425T, 

2296T, 3363T 

Burden, A. F., 1580W 

Burdett, L., 1010F, 1012T, 

1218W, 1517W 

Burdett, T., 2108F 

Burdette, L., 30 

Burdon, K. P., 1785W 

Burgess, D., 3688W 

Burgess, K. E., 845F 

Burglen, L., 2770W 

Burhans, R., 3545F 

Burin, M., 685F 

Burke, A., 1649T 

Burke, B., 2914W 

Burke, L., Session 28 

Burkett, E., 1853F 

Burkhalter, W., 3085W 

Burkhardt, H., 2160W 

Burkley, B., 646T 

Burlet, P., 72 

Burnell, L., 3006T 

Burnham, N. B., 2443T 

Burns, D. K., 637T 

Burns, E., 1444F*, 1594T, 

1636T, 3345T, 3395W 

Burns, K., 1260W 

Burns, K. H., 504W 

Burns, T., 1889F 

Burnside, R. D., 949W 

Buroker, N., 727F, 3281W* 

Buros, J., 343, 2528F 

Burren, O., 453F 

Burroughs, A., 153 

Burton, C., 1021T 

Burton, J., 1014W 

Burton, J. E., 3101W 

Burtt, N., 169 

Burtt, N. P., 172 

Burzynski, G. M., 545F 

Busche, S., 31, 256*, 394, 

1207T, 1215W, 3439T 

Busch-Netwich, E., 37 

Bush, W., 312, 1668T, 

2257T, 2321F 

Bush, W. S., 1489F, 1634T, 

2298W* 

Bushnell, S., 2561F 

Buslon, V., 981W 

Busonero, F., 113, 157, 

177, 276, 1516F, 2001W, 

2198F, 2329T, 3664W 

Busse, T., 65 

Bustamante, C., 285, 2033F, 

3345T, 3563F 

Bustamante, C. D., 186, 

293, 371, 1112F, 1770W, 

2087F, 3352F, 3360T, 

3361F, 3362W, 3368W, 

3380W, 3390T, 3411W 

Bustamante, M., 2167T 

Butcher, D., 3482T 

Butcher, D. T., 3447T*, 

3456T, 3489T 

Butcher, N. J., 2428T* 

Butler, A. W., 2494T 

Butler, E., 2579F 

Butler, M. G., 3054F, 

3089W* 

Butler-Browne, G., 2840T 

Butt, M., 784W 

Butte, A., 2230T 

Butte, A. J., 562W, 1462F 

Butter, F., 2010W 

Butterly, L., 3465T 

Buttgereit, A., 2456F 

Büttner, C., 3153W 

Bützow, R., 1026W

Buur Sinding, J., 3641F, 

3662W 

Buxbaum, J., 1520W 

Buxbaum, J. D., 268, 343, 

1530T, 2560T*, 2577W 

Buxbaum, S. G., 1715T* 

Buxton, J. L., 1432F, 2162F, 

2175W 

Buyru, N., 2912T 

Buys, S., 1213T 

Buyske, S., 1608T, 2042F, 

2381F, 2501F*, 3558W 

Buysse, K., 214 

Buzkova, P., 2041T 

Bwanali, J., 3694W 

Bybee, J., 3702W 

Byerley, W., 2590T 

Byers, P. H., 80, 1759W 

Bygum, A., 2760F 

Byrd, G., 2637W 

Byrd, G. S., 343 

Byrge, C., 3239W* 

Byrne, M., 3610W* 

Byrnes, A. E., 1532W*, 

3659F 

Byrnes, J., 3321T, 3380W 

Byrnes, J. K., 3352F, 

3365W, 3390T 

Byrois, J., 561F 

Bytautas, J. P., 1824F* 

C 

Caberg, J.-H., 925W 

Cabezas, R., 76 

Cabot, C., 3538W 

Cabral, D., 1635T, 1638T 

Cabral, R., 2814F 

Cabral, W. A., 222, 2853F* 

Cabrera, L., 1119W 

Cabrera, S. S., 3063W 

Cabrera-Luque, J., 670T 

Cabrera-Rios, M., 659F 

Cabriolu, A., 2001W 

Cacheux, V., 3047W 

Cadby, G., 1153T 

Cade, W. H., 2028W, 2185T, 

2318F 

Cadenne, M., 716T 

Café, C., 2417F, 2502W 

Caggana, M., 2151W 

CAGI Participants, 499F 

Cagnin, A., 2775F 

Cahayag, R., 784W 

Cahill, M., 263 

Cahn, W., 2526W 

Cai, C., 553F, 844F, 2612F*, 

3558W 

Cai, F., 1539T 

Cai, G., 268 

Cai, J., 242, 3531F* 

Cai, X., 266 

Cai, Z., 1485T* 

Caiazzo, C., 71 

Caicedo, L., 2631W 

Cailler, S., 2113T 

Cailley, D., 473F 

Cain, C., 2 

Cain, S., 2852T 


Cairney, A. E. L., 1138T 

Calcagno, D. Q., 1008W, 

1132T, 3421T*, 3503T 

Calcaterra, N., 2673F 

Caldarazzo, S., 2781F 

Caldarelli, M., 2235W 

Calderon, J., 1609T* 

Calderwood, M., 2660F 

Caldwell, D. A., 1834F 

Cale, C. M., 1748W 

Calender, A., 1293T 

Caleshu, C., 1601T 

Calhoun, A., 3088F 

Calibi, M., 322 

Caliebe, A., 1943F 

Calik, M., 2396F, 2412W 

Calkins, M. E., 2514W, 

2546F 

Call, W., 2328W 

Callahan, L. F., 2047T 

Callan, C., 597F 

Callens, T., 1139F 

Callewaert, B., 128, 129* 

Calley, J. N., 1235F 

Callier, P., 2716W, 2729T, 

2770W, 2792T 

Callier, S., 241 

Caluseriu, O., 3173W* 

Calvas, P., 390, 2957T 

Calverley, P. M. A., 2249F 

Calvert, D., 3449T 

Calvo, S., 1859F 

Calvo, S. E., 326 

Calzada-Wack, J., 2922F 

Camarena, V., 794W 

Camargo, L. M., 1343W 

Camargo, L. M. A., 2352W 

Camarillo, C., 2495F 

Camarillo, D. D. A., 3063W 

Cambell, C., 3397W 

Cambien, F., 3453T 

Cambon-Thomsen, A., 

1811W, 1848W 

Cambridge, E., 2701W 

Camerini-Otero, R. D., 417F, 

592W 

Cameron, R., 2984T 

Camilleri, E., 1042T 

Camm, A. J., 2699T 

Camminady, A., 2928F 

Camp, N., 1001F 

Camp, N. J., 1441F 

Campbell, C., 1185W, 

1309F, 3345T* 

Campbell, C. A., 2301W* 

Campbell, C. D., 14, 278* 

Campbell, F., 630T 

Campbell, H., 1383T, 

1481W, 2072F, 2366F 

Campbell, I. G., 27, 1224W 

Campbell, I. M., 229*, 430W 

Campbell, K. P., 2812W 

Campbell, M., 2043W 

Campbell, M. R., 257 

Campbell, M. T., 1683T 

Campbell, N. G., 268 

Campbell, S., 2072F 

Campeau, P., 127, 165, 

2864T*, 2934F, 3209W 

Camper, S. A., 1878W 


Campion, D., 345, 3538W 

Campos, B., 2627F, 2814F 

Campos, M. M., 2183F 

Campos Valenzuela, J. A., 

1236W 

Camps, C., 509F 

Campuzano, V., 3084F 

Canales, C. P., 410, 

2662W*, 2837T 

Canapicchi, R., 3050F 

Cancel-Tassin, G., 28, 1001F 

CANDELA Consortium, 

3327T 

Candille, S. I., 581F, 3318T, 

3383W* 

Canfield, T., 255 

Canfield, V., 309 

Canfield, V. A., 3264T*, 

3267T 

Cangul, H., 1708T 

Canham, N., 80 

Canick, J. A., 3016T 

Canino, G., 3449T 

Canizales, S., 3327T 

Cann, G., 1167W* 

Cann, H. M., 371, 3361F, 

3411W 

Cannon-Albright, L., 28, 

1001F, 1149W, 1214F, 

1328W* 

Canson, D. M., 707F 

Cantor, E., 3517T, 3715F 

Cantor, R., 2262W 

Cantor, R. M., 2056T, 2222F, 

2256W, 2415W, 2551T, 

2658W 

Cantsilieris, S., 1911W* 

Cantú, C., 872T 

Cantwell, L. B., 342, 343 

Canty, A. J., 2109W 

Cao, A., 113 

Cao, D., 159, 2617T 

Cao, H., 3649F 

Cao, L., 2672T*, 2837T 

Cao, M., 92*, 1776W 

Cao, Q.-Y., 1613T* 

Cao, X., 3317W 

Cao, Y., 1772W 

Capalbo, A., 2777T 

Capelo, L. P., 852F 

Capo-Chichi, J.-M., 

2692W*, 2790F 

Capon, F., 154, 1927T 

Caporaso, N. E., 30, 1154F 

Capra, R., 2095T 

Capra, V., 1910F 

Capredon, M., 3260W*, 

3341W 

Capron, C., 2716W 

Caputo, S., 1062W, 1212W 

Caraballo, L., 2043W 

Carabalona, A., 889W, 

2674W* 

Caracciolo, M., 2766F, 

2774T 

Caramins, M., 2934F 

Carbajo, R., 682T 

Cardena, M. M. S. G., 

1629T 

Cardenas, R., 1141T 

Cárdenas-Cardos, R., 

1131W 

Cardentey, Y., 3706W 

Cardin, N., 1250F 

Cardinale, C., 2229W, 

2592W 

Cardinale, C. J., 1997F*, 

2252F 

CARDIoGRAM Consortium, 

ADIPOGen Consortium., 

1595T 

CARDIoGRAMplusC4D 


Cardon, L. R., 641T, 649T 

Cardoso, C., 889W, 2674W 

Cardoso, M. T. O., 1880F 

Cardozo, G. P., 776W 

CARe Analysis Core, 350 

Carels, C., 3159W 

Carey, A., 689F 

Carey, J., 290, 3088F* 

Carey, J. C., 3076F 

Carey, J. P., 2301W 

Carey, V., 536W 

Caria, C. A., 2001W 

Carim, S., 2852T 

Carless, M., 1912T, 2061W 

Carless, M. A., 1406W, 

2589W, 2651F, 3434T* 

Carling, T., 1241F 

Carlins, E., 2219F 

Carlo, S., 659F 

Carlson, C., 530W, 1925F, 

2098T, 2337W 

Carlson, C. S., 1408F, 

1437T, 2042F 

Carlson, E., 603T 

Carlsson, G., 3618W 

Carlsson, J., 582W 

Carlsson, L. M., 1271F 

Carlsson, L. M. S., 427F 

Carlus, J., 1950W 

Carmack, C., 399 

Carmi, S., 17, 3346F* 

Carmichael, S. L., 1352W*, 

1885T 

Carmignac, V., 2716W, 

2770W 

Carmona-Mora, P., 410, 

2672T, 2796F*, 2837T 

Carneiro, M., 288 

Carnevale, A., 956T, 1141T 

Carney, R. M., 2583W, 

2637W 

Caron, F. M., 3117W 

Caron, M., 3439T 

Caron, O., 1212W 

Carosso, G., 2786T 

Carotenuto, G., 3492T 

Carpenter, C., 651T 

Carpenter, K., 166 

Carpenter, M., 186 

Carpentier, S., 54 

Carpintero-Ramirez, G., 

2219F 

Carpten, J., 28, 1001F 

Carpten, J. D., 1214F, 

1240T 

Carr, A., 132 

Carr, J., 1706T 



Carr, J. J., 1648T, 1661T, 

1913F, 2275T 

Carraro, D., 1151F 

Carrasco, M., 2430W 

Carrato, A., 1091F 

Carrell, D. T., 2982T 

Carrera, C., 1053W 

Carrero-Gonzalez, I., 3363T 

Carrillo, O., 2543F 

Carrillo, T., 2296T 

Carrillo-Carrasco, N., 711F, 

1702T 

Carrington, B., 1983W 

Carrington, M., 2217W 

Carroll, C. J., 327* 

Carroll, J., 3212F 

Carroll, J. C., 142, 149, 150, 

1827W, 1852F* 

Carroll, P., 3211W 

Carroll, R., 3622W 

Carsola, F. G., 2706F 

Carson, A. R., 1239W* 

Carson, D. A., 1051T 

Carson, J. L., 2851W 

Carta, E., 2752W 

Carta, L., 81, 767W*, 1698T 

Cartault, F., 522W, 915W 

Cartaxo, C., 2609F 

Carter, C. S., 404* 

Carter, E., 826F*, 864T, 3128F 

Carter, H., 2180F 

Carter, M., 198 

Carter, M. T., 3086F* 

Carter, N., 101, 291, 364 

Carter, T., 3326W 

Cartier, N., Session 23 

Carty, C., 1608T 

Carty, C. L., 1925F*, 2042F 

Caruccio, N., 3668W, 3721F 

Carulli, J. P., 2561F* 

Caruso, D., 3026T 

Carvajal-Carmona, L., 

1072T* 

Carvalho, A., 2814F 

Carvalho, C., 2955F 

Carvalho, C. M. B., 61, 

337*, 428W, 485F 

Carvalho, D. R., 2596T 

Carvalho, E., 2043W 

Carvalho, E. D. F., 2232W, 

3152F* 

Carvalho, E. F., 883W 

Carvalho, F., 2982T, 3122F 

Carvalho, K. M., 883W 

Carvalho, M. F., 883W* 

Carvalho, M. R. S., 2434T* 

Carvil, G. L., 10 

Carvill, G., 2890W, 2897T* 

Casadei, S., 26, 1089W*, 

1226F, 1228T 

Casadio, C., 1153T 

Casalone, E., 1153T 

Casals, F., 31, 3268F 

Casals, T., 1768W 

Casanova, J.-L., Session 

80, 365 

Casanova, J. L., 127, 202, 

3599F 

Casavant, T. L., 60 

Cascio, W., 1636T 


Casella, A., 1229F 

Casenave, P., 716T 

Casey, G., 1072T 

Casey, S., 2493W 

Casingal, C., 2466W 

Casingal, C. R., 2473T* 

Casper, R., 2869W 

Cass, C. E., 1297F 

Cassidy, A., 645T* 

Castaldi, P., 2057F, 2249F 

Castañon, M., 1048T 

Castelazo-Rodriguez, G., 

1168T 

Castellani, C., 1731W, 

2585F* 

Castelli, E. C., 3375T 

Castellotti, B., 2775F 

Castéra, L., 1205F 

Castiglia, L., 3114F 

Castilhos, R. M., 2424W, 

2626T, 2642F* 

Castilla, E. E., 1936T 

Castillo-Fernandez, J. E., 

1129T 

Castle, A., 794W 

Castle, D., 149, 150, 1827W 

Castor, A., 1023W 

Castrillo, J. L., 976T 

Castro, A. M., 182, 381, 

1573F 

Castro, C., 1899W 

Castro, E. C., 1109F 

Castro, J. M., 1111T, 1127F, 

1128W 

Castro, O., 928T 

Castro-Giner, F., 54 

Castro-Perez, J. M., 1605T 

Casuga, I., 1209W, 3278W*, 

3714W 

Caswell, J. L., 1576F* 

Caswell, R., 2704W, 2709F, 

2935W 

Catalano, L. M., 66 

Cataldo, J., 1965W 

Catalona, W., 28, 1001F 

Catalona, W. J., 1214F 

Catanese, J. J., 1603T 

Catania, M. V., 513F 

Cathey, S. S., 2826F 

Cauchin, E., 1204T 

Caughey, A. B., 3020T 

Cauley, J. A., 2145W 

Caulfield, M. J., 79 

Caumes, R., 915W 

Causer, V., 2083T 

Causga, I., 1246T 

Causse, A., 2957T 

Caux-Moncoutier, V., 1205F 

Cavadino, A., 271 

Cavalcanti, D. P., 3129W 

Cavalcanti, F., 2763F*, 

2766F, 2774T, 2780T 

Cavalieri, S., 790W* 

Cavalla, P., 2095T 

Cavallari, L. H., 646T 

Cavalli, R., 790W 

Cavelier, L., 3728W 

Caywood, L., 3335W 

Cazier, J.-B., 2939T 

Cazier, J. B., 1640T 

CCFR Investigators, Colon 

Cancer Family Registry, 

National Cancer Institute, 

1292W 

CCT Consortium, 388 

Cebulla, C. M., 1197W 

Cecilia, K., 2722W 

Cederbaum, S., 165 

Cederbaum, S. D., 680T 

Cedro-Tanda, A., 1168T* 

Cejas, D., 666T 

Celedón, J. C., 3449T 

Celikyapi, G., 2429F* 

Celikyapi Erdem, G., 2841F, 

3475T 

Celis, A., 2363F 

Celli, B., 2249F 

Cen, W.-J., 3281W 

Cendes, F., 514W, 2233T, 

2394W, 2876T 

Cengiz, F. B., 57 

Center, J. C., 2176T 

Center for Inherited Disease 

Research, 3644W 

Centre for Genome 

Diagnostics, 1870F 

Cents, R., 2164T 

Cepok, S., 2086T 

Cereb, N., 3330T 

Cerecedo-Zapata, C., 

3124F 

Cereda, C., 2775F 

Cerhan, J. R., 3564W 

Ceris, J., 1338T 

Cerise, J., 1407T 

Cermola, M., 2810T 

Cernach, M. C., 3045W 

Cerqueira, A., 1727W 

Cerroni, L., 1063T 

Cervantes, D., 3040F 

Cesaretti, J., 1309F 

Cesarini, D., 2505W 

Cespedes, C., 3069W 

Cesselli, D., 2809W 

Cetani, F., 2708T 

Ceyhan, O., 2811F, 3219W* 

Ceylaner, S., 3003T* 

Cha, D., 900T 

Cha, P., 2550W* 

Cha, P. C., 3513T 

Chaabouni Bouhamed, H., 

2937F 

Chabchoub, E., 925W 

Chabrol, B., 2536T 

Chadha-Boreham, H., 684T 

Chadwick, B. P., 3515T 

Chae, C. H., 3180F 

Chae, H., 2715F* 

Chae, J., 877W, 3204F* 

Chae, Y. M., 846F 

Chafai Elalaoui, S., 3246F 

Chahine, K., 3321T, 3340F, 

3365W 

Chahrour, M. H., 8, 2613W* 

Chaix, M., 1678T* 

Chakarova, C. F., 2183F 

Chaki, M., 406*, 2850F 

Chakrabarti, B., 3316F 

Chakraborty, P., 142, 150 

Chakraborty, R., 1660T 

Chakravarti, A., 13, 121, 

305, 308, 1639T, 2305T, 

3316F 

Chaleshtori, M. A., 59 

Challis, D., 3576W 

Challman, T. D., 2439W 

Chalmers, D., 1848W 

Chalon, M., 3246F 

Chalouhi, G., 72 

Cham, B. W. M., 2889F 

Chamarthi, B., 50* 

Chambers, C., 3076F 

Chambers, J. C., 110*, 383, 

3435T 

Chambers, S. K., 1087T 

Chambert, K., 284, 290, 

1325W, 2487W, 

2618F 

Chambliss, J., 1081T 

Chamling, X., 2671W* 

Chamma, M. T., 2655W 

Chammas, R., 1008W 

Champion, K., 3171W 

Champion, K. J., 2901F, 

3684W 

Chan, A. T., 191 

Chan, D., 638T 

Chan, E., 865W 

Chan, E. T., 3612W 

Chan, H., 1905W 

Chan, H.-W., 2285F 

Chan, I. H. Y., 1930T 

Chan, J., 2279F, 2280W 

Chan, L. L., 1375F 

Chan, P., 3522T 

Chan, R. B., 2547W 

Chan, W., 2928F 

Chan, W. Y., 3491T 

Chan, Y., 2364W* 

Chanda, P., 1403W*, 1579F 

Chandak, G. R., 3455T 

Chandirasekar, R., 1044W* 

Chandler, R. J., 664T, 669F* 

Chandna, P., 1701T 

Chandra, A., 1177T 

Chandran, V., 1952F, 2658W 

Chandrasekharappa, S., 

3080F 

Chang, C., 893W, 1249T, 

1830F, 1905W, 3727F 

Chang, C. C., 1380T 

Chang, C. J., 3457T 

Chang, D., 183 

Chang, E. R., 498W*, 2111F 

Chang, G., 989F 

Chang, I., 629T 

Chang, J., 1027T 

Chang, K., 1249T, 3695F 

Chang, M. L., 2517W 

Chang, R., 2895F 

Chang, S., 985T, 1557T*, 

1894T 

Chang, S.-C., 2285F 

Chang, T., 985T*, 1894T, 

1905W, 1929W, 3026T 

Chang, W., 3695F 

Chang, W. H., 2768T 

Chang, X., 3415T, 3532W* 

Chang, Y.-T., 610T 

Chang-Claude, J., 206

Chanloner, J., 2834T 

Chanock, S., 191, 205, 

1012T, 1097F, 1119W, 

1148F, 1154F, 1306F, 

1413T, 1517W, 1626T, 

2165F, 3683F 

Chanock, S. J., 30, 213, 

1010F, 1150T, 1160F, 

1218W, 1372F, 1390F, 

2202W, 3325F 

Chan-Seng-Yue, M., 1093T 

Chantot-Bastaraud, S., 

973W 

Chanudet, E., 303, 2755W 

Chan-Yeung, M., 1465F 

Chao, E. C., 2907F* 

Chaouch, M., 2808F, 2866W 

Chaoui, A., 2727F 

Chapman, B., 356 

Chapman, B. A., 326 

Chapman, K., 670T*, 2432F 

Chapman, N. H., 2406W* 

Chapman, S., 2157W 

Chapman, S. J., 1948T 

Charames, G. S., 3448T* 

Charbonnier, F., 32, 1222T 

CHARGE, GBPgen, and 

ICBP Investigators, 1637T 

CHARGE, GIANT, CARe, 

and African American 

Central Adiposity 

Consortia, 1896W 

CHARGE-BP and ICBP 

Consortia, 1639T 

CHARGE Consortium 

Protein Working Group, 

111, 2073W 

CHARGE Exome Chip 

Genotyping Committee, 

1445W 

CHARGE Gene Expression 

Working Group, 584W 

CHARGE Insulin-Like 

Growth Factor Working 

Group, 2080T 

CHARGE Neurology 

Working Group, 1592T 

CHARGE Nutrition Working 

Group, 51 

CHARGE Subclinical 

Atherosclerosis Working 

Group, 1599T 

Charland, S. L., 1714T 

Charles, A., 1262F 

Charles, C., 3242F 

Charles, P., 2770W 

Charoensawan, V., 2918T 

Charon, A., 3181W 

Chartterjee, N., 1012T 

Chase, J., 728T 

Chasman, D., 109, 2165F 

Chasman, D. I., 51, 609T, 

2056T 

Chassaing, N., 124, 2957T* 

Chatelain, S. M., 926T, 

1018T 

Chatterjee, K., 2701W 

Chatterjee, N., 1091F, 

1306F*, 1372F, 1378F, 

1413T 


Chattopadhyay, K., 1073F* 

Chattopadhyay, S., 1278W* 

Chatzisevastou-Loukidou, 

C., 84 

Chaubey, A. D., 2826F 

Chaudru, V., 1158W 

Chauhan, M., 605T, 2516F 

Chauveau, C., 2945T* 

Chavez, H. O., 926T 

Chávez, M., 2365T* 

Chawla, L., 2967T 

Chawla, S., 865W, 2739F 

Chawner, S., 2405F 

Chayama, K., 396 

Cheah, F., 1472W 

Chebaro, W., 2842W 

Chechi, T., 770W 

Chedin, F., 552W 

Chédin, F. L., 2633F 

Chee, M., 1684T 

Cheguri, S., 998F, 999W, 

1159T 

Cheh, M. L., 1859F 

Chelin, C., 77 

Chemaly, E. R., 1698T 

Chen, B., 242 

Chen, C., 356, 989F, 1249T, 

1390F, 2392T*, 2571W, 

2606F, 3413W*, 3467T, 

3582W 

Chen, C. A., 1781W 

Chen, C.-H., 2092T* 

Chen, C.-P., 797W 

Chen, D., 382 

Chen, D. C., 1034F 

Chen, D. T., 260, 2622W 

Chen, E. S., 1132T, 3421T, 

3503T 

Chen, F., 123, 1662T, 1688T, 

2202W*, 3293W, 3566W 

Chen, G., 241, 242, 356, 

1324F, 1460W, 1886F, 

3533F* 

Chen, G. B., 1360F 

Chen, G. K., 2131T, 2202W, 

3621F 

Chen, H., 169, 202, 

1346W*, 1369F, 1543F, 

1972T, 3317W, 3347W* 

Chen, H. Y., 2014T, 2575T 

Chen, J., 333, 2251T, 

3534W* 

Chen, J. H., 1972T* 

Chen, J. L., 1054T* 

Chen, J. W., 3430T 

Chen, K., 511F, 989F 

Chen, K. C., 1586T 

Chen, L., 50, 1059W 

Chen, L.-S., 2535W* 

Chen, M., 189, 1201T*, 

2419T, 3697F 

Chen, M.-R., 2285F 

Chen, N., 1095W, 2617T 

Chen, P., 399, 1929W*, 

2461T, 3619F 

Chen, P. K., 1472W 

Chen, P. L., 2936T 

Chen, P.-W., 2970T 

Chen, Q., 2921T, 3026T 

Chen., R., 1505W 


Chen, R., 385, 562W, 1462F, 

1601T, 1779W, 2230T, 

2322W*, 2910F 

Chen, S., 69, 116, 245, 

411*, 785W, 1021T, 

2259W*, 2819T, 3714W 

Chen, S, M., 1246T 

Chen, S.-H., 256, 3281W 

Chen, S.-M., 3278W 

Chen, S. M., 1209W 

Chen, T., 985T, 2444F, 

3415T 

Chen, T.-J., 907W* 

Chen, W., 22, 178, 766W, 

1110W, 1354F, 1971W, 

1972T, 2135F, 2274W, 

3442T, 3449T*, 3452T 

Chen, WM., 1662T 

Chen, W.-M., 1299T* 

Chen, W. M., 123 

Chen, W. V., 1298W 

Chen, X., 1283W*, 2460W 

Chen, X.-L., 2969T*, 2970T 

Chen, Y., 80, 411, 722T, 

795W, 834F, 989F, 1608T, 

2180F*, 2854W, 2961F*, 

3029T*, 3420T, 3489T* 

Chen, Y. D., 1661T 

Chen, Y. D. I., 2337W 

Chen, Y. I., 1916F, 2153F 

Chen, Y.-T., 2092T 

Chen, Y. T., 2858T 

Chen, Z., 140*, 1086W, 

1108T, 1772W, 3666W 

Chenevix-Trench, G., 206, 

207, 208, 209, 210*, 

1150T, 1492F, 2323T 

Cheng, A., 1249T 

Cheng, B., 2617T 

Cheng, C., 442W 

Cheng, C.-H., 2052W 

Cheng, C. Y., 429F, 2094W* 

Cheng, D., 830F, 1108T 

Cheng, E., 940T 

Cheng, G., 1930T, 2066F, 

2932W* 

Cheng, H., 511F, 1660T, 

2159F 

Cheng, I., 1608T, 1925F, 

2042F 

Cheng, J., 1779W, 2868F, 

3007T 

Cheng, K., 309, 1133F 

Cheng, K. C., 3264T, 3267T 

Cheng, M., 2571W*, 2606F 

Cheng, R., 1369F, 2093F*, 

2208W 

Cheng, S., 793W*, 1677T 

Cheng, Y., 2421W, 2490W* 

Cheng, Y.-W., 3090F* 

Cheng, Z., 14 

Chenichene, S., 3117W 

Chenier, S., 1872F, 1873F, 

3106F* 

Chennagiri, N., 3640W, 

3680W 

Cheon, C. K., 964T, 3205W* 

Cheong, H. I., 3223W 

Cheong, S. Y., 2069F, 

2381F, 2544W 

Cherbal, F., 1268F* 

Chernos, J., 910T 

Cherny, S., 1822F 

Cherny, S. S., 1930T, 

2066F*, 2494T, 2932W 

Cherry, J. M., 3612W 

Cherukuri, P., 359, 1515T, 

2610W*, 3543F 

Chesi, G., 2810T 

Chesko, K. L., 3027T 

Chesnik, M., 1269W 

Chessa, L., 760W* 

Chettiar, S. S., 2731W 

Chettrit, J., 1204T 

Cheung, C. Y. K., 1541W* 

Cheung, G., 429F 

Cheung, H., 1221W 

Cheung, L., 336 

Cheung, S., 893W 

Cheung, S. W., 13, 229, 

430W, 432W, 433F, 898T, 

952T, 2395T 

Cheung, V., 253, 535F, 

544W 

Cheung, V. G., 257, 370*, 

500W, 1506T 

Cheverud, J. M., 272, 2413T 

Chevessier, F., 328 

Chevillard, C., 1593T* 

Chew, E. G. Y., 3047W 

Chew, E. Y., 2183F 

Chew, S., 1216T 

Chhabra, D., 2166W* 

Chhibber, A., 2258F* 

Chi, A., 3691F 

Chi, E. C., 3621F* 

Chi, H., 2285F* 

Chi, J., 2985T 

Chiabai, M. A., 1202F* 

Chiaie, B., 298 

Chiang, C. W. K., 3282T* 

Chiang, J., 2910F, 3130F 

Chiang, K. M., 3430T* 

Chiang, T., 1322W, 1531F, 

2580W, 2953W 

Chiano, M., 630T* 

Chiappini, E., 3114F 

Chiavacci, R., 2252F, 

2514W, 2872W 

Chiavacci, R. M., 812F, 

1997F, 2121W, 2546F 

Chiba-Falek, O., 2465F* 

Chibnik, L. A., 2488T 

Chibnik, L. B., 2250W, 

3417T, 3450T* 

Chibnik, L. E., 380 

Chicka, M. C., 3145W 

Chidester, A. M., 2329T 

Chien, J., 1238F, 3451T 

Chien, L., 629T* 

Chien, Y. H., 683F, 706T 

Chiesa, J., 1212W 

Chikh, A., 1268F 

Child, A., 1584T 

Child, A. H., 1675T 

Chiliza, B., 644T 

Chin, E. L. H., 1758W 

Chin, J., 3724W 

China Atherosclerosis 

Genetics Consortium, 116 



Chinault, C., 330 

Chines, P. S., 46 

Ching, B., 1146W, 1195T 

Chini, V., 2728W* 

Chinnery, P. F., 751F, 2996T 

Chiò, A., 2611T 

Chiou, M., 655T 

Chipendo, P. I., 528W 

Chipps, B., 3238F 

Chiripal, S., 1216T 

Chisholm, R., 3622W 

Chisholm, R. L., 618T, 1312F 

Chissoe, S., 1686T 

Chissoe, S. L., 641T, 649T 

Chitale, D. A., 1250F 

Chitayat, D., 214, 320, 720T, 

1738W, 3013T, 3075W, 

3156F, 3186F, 3196F* 

Chitipiralla, S., 3625F 

Chiu, C. L., 1705T* 

Chiu, E., 767W, 1190F, 

1698T 

Chiu, K., 1249T 

Chiu, N.-C., 2285F 

Chiyo, T., 799W 

Cho, B., 1243T, 2715F 

Cho, C., 3145W 

Cho, H.-J., 964T* 

Cho, I., 2518T 

Cho, J., 17, 189, 2204F 

Cho, J. H., Session 80, 

1320T, 1381F, 2045F, 

2319W 

Cho, M., 2057F 

Cho, M. H., 2249F, 2346W* 

Cho, M. K., Session 79, 

1804F, 1844F 

Cho, S., 1384F, 2200T, 

2518T 

Cho, T., 933W 

Cho, Y. H., 739F* 

Choate, K. A., 2915T 

Chodirker, B., 3127W 

Chodosh, J., 529F, 2188T 

Choh, A. C., 2146T 

Choi, B., 2723T 

Choi, D.-S., 2516F 

Choi, H. J., 2053T 

Choi, J., 877W, 1657T, 

2828T, 3204F 

Choi, J. R., 863W 

Choi, J. Y., 3178F 

Choi, K., 260, 2622W, 

2849T, 3008T 

Choi, M., 1241F, 2779W 

Choi, O.-W., 2262W 

Choi, S., 269, 1385W, 

2778F 

Choi, S.-H., 3227W 

Choi, T., 1341T 

Choi, Y., 581F, 1504F* 

Chokdeemeeboon, C., 

2006F 

Chokkalingam, A., 1924T, 

2268W 

Chong, H. K., 3535F* 

Chong, J. X., 278, 3398T* 

Chong, K., 2971T* 

Chong, S., 2148W 

Chong, S. S., 1472W 


Chong, T., 1093T 

Choong, C., 1262F 

Choong, D. Y. H., 1224W 

Choppa, P., 1251W 

Chopra, R., 1701T 

Choquet, H., 2269T* 

Choquet, K., 2234F, 2797W 

Chorich, L., 2984T 

Chou, C., 516W, 2926W 

Chou, J. Y., 2712F 

Chou, W., 1249T 

Chouchane, L., 2933T, 

3399W 

Choudhri, H., 509F* 

Choudhry, S., 1352W, 

1885T* 

Chouery, E., 2692W 

Choufani, S., 3420T, 3489T 

Chow, C. Y., 2214W* 

Chow, E., 2428T, 2480F* 

Chow, J. F. C., 3000T 

Chow, W. H., 1012T 

Chowdhury, M. R., 918T 

Chowdhury, R., 253 

Chowdhury, S., 1459F 

Chowdry, A., 483F, 1223F, 

3617F 

Chowdry, A. B., 1620T*, 

2149T 

Choy, R., 2868F 

Chrast, J., 506W 

Chretien, F., 329 

Christacos, N. C., 945W*, 

953W 

Christensen, B. C., 3629F 

Christensen, E., 702T, 737F 

Christensen, K., 317*, 

1323T, 1472W, 1564F, 

1650T, 1921T, 2040W, 

2244W, 2295W 

Christensen, K. D., 1781W 

Christiaans, I., 1616T 

Christian, M., 2402F 

Christian, S. L., 2389T 

Christiani, D. C., 2122T 

Christiano, A. M., 2182T 

Christiansen, L., 2244W, 

2295W 

Christiansen, M., 2699T 

Christiansen, M. W., 584W, 

1284T, 1503T 

Christiansen, P., 2707W 

Christianson, A., 1877F 

Christman, M. F., 632T 

Christodoulou, J., 166*, 

2795T 

Christofolini, D., 899W 

Christofolini, D. M., 2534F, 

3045W 

Christoforides, A., 1240T 

Chryst-Ladd, M., 1444F, 

1594T 

Chrzanowska, K., 2755W 

Chu, A. Y., 51* 

Chu, C., 1894T, 2926W 

Chu, H., 1249T 

Chu, J., 536W*, 1468F 

Chu, S., 553F 

Chu, X., 1945T*, 2078F 

Chua, K. H., 1572T 

Chuang, D., 2742F 

Chuang, L., 2524T* 

Chuang, L.-M., 1955F 

Chuang, W., 516W 

Chuang, Y., 2606F* 

Chudin, E., 1684T 

Chudley, A. E., 2772F, 

2800W 

Chun, K., 1227W* 

Chung, B., 3186F* 

Chung, B. H. Y., 3420T 

Chung, C., 1097F 

Chung, C. C., 213*, 1372F 

Chung, E. M. K., 809F 

Chung, H., 2117F 

Chung, J., 1008W, 3461T 

Chung, K., 2538W 

Chung, M., 530W 

Chung, N. G., 2715F 

Chung, P. H. Y., 1930T 

Chung, R. H., 2572T 

Chung, S. A., 306 

Chung, S. H., 614T 

Chung, S. K., 262*, 2821W 

Chung, T. Y., 2118W 

Chung, W., 299, 330, 1600T, 

1676T 

Chung, W. K., 1735W, 

2439W 

Chung, Y., 3607F* 

Chunharas, C., 2749W 

Church, D., Session 77, 

464W*, 3582W, 3625F 

Church, J., 362, 728T 

Churchhouse, C., 3360T, 

3384T* 

Churchill, J. D., 3234F* 

Chutake, Y. K., 381* 

Chute, C., 3622W 

Chute, C. G., 618T, 1312F 

Ciampi, A., 1411F 

Ciana, G., 692T 

Ciato, D., 2708T 

Cibulková, P., 2865F 

Ciccone, C., 711F, 1702T, 

3080F 

Cicek, M. S., 3451T* 

Cichon, S., 259, 420W, 

1942T, 3550W 

Cicuttini, F. M., 2292W 

Ciechanowicz, A., 2102F 

Cieck, M., 139 

Cieslak-Janzen, J., 251 

CIHR Emerging Team in 

Genomics in Screening, 

150, 1827W 

Cil, E., 1708T 

Cilio, R., 202 

CIMBA, OCAC and BCAC, 

210 

Cine, N., 2058W 

Cingolani, P., 169, 176, 

1513F, 1923W, 2308T, 

2339F 

Cinque, P., 2561F 

Cintra, V., 2425T 

Cipriani, V., 2072F* 

Cirak, S., 2812W* 

Cirillo, L., 1269W 

Cirkel, G., 400 

Cirnes, L., 1747W 

Cirulli, E. T., 2552F* 

Cisneros, B., 3124F, 3226F 

Citro, V., 3496T 

Cittadella, R., 2597F 

Civallero, G., 685F 

Civelek, M., 2256W 

Ciwangsangbu, C., 3317W 

Clabby, M., 1679T 

Claes, C., 59 

Claes, G. R. F., 1711T 

Claes, K., 423F, 2791W 

Claes, P., 1850W, 2223W 

Clague, J., 1071W 

Clancy, R. R. C., 2443T 

Clare, S., 1098W 

Clarelli, F., 2095T* 

Clark, A., 183 

Clark, A. G., 187, 357, 537F, 

2029T, 2214W, 3269W, 

3288T, 3306T 

Clark, A. P., 3587F 

Clark, E., 1904F 

Clark, K., 2664F 

Clark, L., 17, 442W, 1898F, 

2377T, 2410T*, 2547W 

Clark, L. N., 845F 

Clark, R., 869W 

Clark, R. D., 2955F, 3191W 

Clark, S. L., 3442T, 3452T* 

Clark, T., 647T 

Clarke, A., 865W, 2099F 

Clarke, C., 534W 

Clarke, J., 419F, 3706W 

Clarke, L., 1543F, 3636W* 

Clarke, N. F., 295 

Clarke, S., 2614T 

Clarkson, K., 3171W 

Claussnitzer, M., 3536W* 

Claustres, M., 2947W 

Clavering, E. K., 1803W 

Clawson, H., 3557F 

Clayton, A. C., 1145F 

Clayton, D. G., 2072F 

Clayton, E. W., 631T 

Clayton, N., 767W, 1698T 

Clayton, P. T., 167 

Clayton, S., 101, 291, 364 

CLEAR Investigators, 2047T 

Cleary, C., 3119W 

Cleary, S. P., 141 

Clement, M. J., 3643F 

Clemmer, G., 623T 

Clendenning, M., 1067F 

Clerget-Darpoux, F., 

Session 8 

Cleveland, J. L., 1162T 

Clevert, D.-A., 1483F, 

2374T* 

Cleves, M. A., 1459F 

Cline, M., 3557F 

Clinton, C. M., 1799W*, 

1836F, 1843W 

Cloutier, M., 3449T 

Clyde, M. M., 3267T 

Clynes, D., 418W 

Coa, D., 503F 

Coady, S., 2247W 

Coakley, D., 774W 

Coan, A. C., 514W, 2394W

Coarfa, C., 3433T* 

Coates, J., 784W 

Coates, J. R., 2817F 

Cobat, A., 1374T*, 2003F 

Cobb, B., 419F 

Cocco, E., 157 

Cochran, B. J., 1445W 

Codd, V., 2035T, 2175W* 

Coe, B. P., 10, 14, 274 

Coêlho, C. C., 1405F 

Coelho, J., 2502W 

Coelho, T., 1296T, 2736F 

Coeli-Lacchini, F. B., 479F 

Coenen, M. J. H., 243*, 306, 

621T 

Coffee & Caffeine Genetics 


Coffman, K., 904T 

Coghill, D., 645T 

Coghlan, G., 2772F 

Cogulu, O., 965W, 2719W, 

3222F 

Çogˇulu, O., 3214F 

Cohen, I., 2931F 

Cohen, J., 2907F 

Cohen, J. S., 3065W 

Cohen, L., 3012T 

Cohen, M., 86 

Cohen, N., 958T 

Cohen-Snuijf, P., 2925F 

Cohn, D., 3209W 

Cohn, D. H., 2740W, 2874F 

Cohn, G. M., 768W, 769W 

Cohn, R. D., 2677W 

Cohorts for Heart and Aging 

Research in Genetic 

Epidemiology, NHLBI 

Exome Sequencing 

Project, 1585T 

Coin, L., 159, 429F, 1432F, 

2162F 

Coiteiro, D., 2085W 

Cok, J., 1119W 

Coker, M., 3214F 

Colak, R., 1551T* 

Col Araz, N., 1402F, 1935W*, 

1938W 

Colas, C., 1170W 

Colby, C., 2516F 

Cole, R., 1269W 

Cole, S., 1280W 

Cole, S. A., 1406W 

Coleman, C., 2283W* 

Coleman, K., 1494T, 1679T* 

Colins, C., 491F 

Coll, M., 3069W 

Collaboration developed 

under Radiogenomics 


Collado, A., 2326T 

Colleaux, L., 104, 202, 2808F 

Collee, J. M., 27 

Collet, C., 2729T, 3154F, 

3199W 

Collet, J. P., 756W 

Colley, A., 66 

Collier, D. A., 2522F 

Collin, R., 2950W 

Collins, A., 3133W 

Collins, A. L., 2468F*, 3659F 


Collins, F., 324 

Collins, F. A., 3129W 

Collins, F. S., Session 69, 

46, 304 

Collins, H., 1859F 

Collins, I., 1088F, 1199F 

Collins, J. A., 265 

Collins, J. E., 37 

Collins, R., 115, 970T 

Collombat, P., 2629T 

Colombo, M., 1895F 

Colon Cancer Family 

Registry, 141, 1067F, 

1206W 

Colon Cancer Family 

Registry, COGENT 


Colón-Semidey, A., 3449T 

Colosi, P., 2680W 

Colvin, C., 1021T 

Comas, D., 3345T, 3377W, 

3387T 

Combe, J., 1119W 

Comeau, M. E., 1979F 

Comi, G., 624T 

Comi, G. C., 2095T 

Comi, G. P., 2775F 

Compton, J., 330 

Compton, T., 2561F 

Comstock, D., 3007T 

Comuzzie, A., 1280W 

Comuzzie, A. G., 2309F, 

3434T 

Concannon, P., 1299T 

Concas, M. P., 2062T 

Conceição, I. C., 2417F, 

2502W* 

Conde, L., 1104W, 2055W*, 

3623F 

Condino, F., 2597F 

Condreay, L., 630T 

Condroyer, C., 2638T 

Congia, M., 1516F 

Congiu, C., 86 

Coniglio, G., 2095T 

Conklin, B., Session 78 

Conklin, B. R., 1620T 

Conkright, M. D., 1162T 

Conley, B., 1068W 

Conley, Y. P., 1884W, 1963T* 

Conlin, L., 3040F, 3082F 

Conlon, P., 2082W 

Conneely, K. N., 66, 1422T, 

2383T, 2420F, 2483F, 

3480T 

Connolly, J. J., 2546F* 

Connolly, M., 131, 750T 

Connolly, M. C., 1769W 

Connolly, S., 70, 617T, 619T 

Conomos, M., 1424W 

Conrad, D. F., 560W, 2576F, 

2982T* 

Conrad, P., 1059W 

Conroy, J., 2283W, 3428T 

Conroy, S. K., 2531F 

Consortium of Investigators 

of Modifiers of BRCA1/2 

(CIMBA) Collaborators, 

207, 208 

Constantine, S., 1151F 


Constantino, J. N., 2439W, 

2551T 

Constantino-Casas, F., 

1105T 

Consugar, M., 2943F, 3653F 

Consugar, M. B., 1756W* 

Conta, J., 1842F 

Conte, I., 2810T, 2950W 

Conte, M. I., 505F* 

Conti, D. V., 642T, 1435F 

Conti, P., 2766F 

Contreras, A. V., 526W*, 

3255T 

Contreras, S. A., 2495F 

CONVERGE Consortium, 

355 

Conway, K., 1566T 

Cook, D., 3537F* 

Cook, D. G., 1626T 

Cook, E., 13, 3494T 

Cook, E., Jr., 1520W 

Cook, E. H., 2577W 

Cook, J., 2897T 

Cook, J. R., 81, 767W, 815F, 

1698T* 

Cook, M., 2826F 

Cook, M. B., 213 

Cooke, J. N., 1879T, 

2310W* 

Cooke, M. S., 1270T 

Cooke, T., 3362W 

Cooke, T. F., 293* 

Cooksley, R., 715F, 801W 

Cookson, M. R., 564W 

Cookson, W. O. C., 1361W 

Cookson, W. O. C. M., 

2102F, 3466T, 3469T, 

3486T 

Coon, H., 195, 2406W 

Coon, M. R., 2329T 

Cooney, K., 28*, 1001F 

Cooney, K. A., 1080W, 

1214F 

Coonrod, E. M., 2720T* 

Coons, T. A., 1454W 

Coop, G., 282 

Cooper, B. A., 1965W 

Cooper, C., 2292W 

Cooper, C. D. O., 219 

Cooper, D. N., 939W 

Cooper, J., 453F, 3471T 

Cooper, M., 1936T 

Cooper, R., 1959W, 2063F 

Cooper, S., 1167W, 3697F 

COPDGene and ECLIPSE 

Investigators, 2057F 

COPDGene Investigators, 

1425T 

COPDGene Investigators, 

NHLBI Exome 

Sequencing Project, 

2346W 

Cope, H., 3, 1919F 

Copeland, S., 2974T 

Copigny, F., 1212W 

Copin, H., 3117W 

Copley, R., 2939T 

Coppieters, F., 539F*, 2927T 

Coppieters, W., 708T 

Coppola, D., 1061F 

Coppola, G., 2262W, 2639F, 

2779W 

Coprerski, B., 2484W, 

2485T*, 2540F 

Corach, D., 3364F, 3402T 

Coram, M., 1504F 

Corbin, I., 99* 

Corcoran, C. D., 3643F 

Corcoran, D., 586W 

Corda, E., 1158W 

Cordeiro, I., 131 

Cordeiro, Q., 2533T 

Cordell, H. J., 153 

Cordero, S., 1601T 

Cordier, M. P., 3129W 

Cordisco, M., 83 

Cordoro, K., 2926W 

Córdova-Fletes, C., 1030T* 

Cordova-Solis, I. A., 1168T 

Core, L. J., 415F 

Coresh, J., 1932W 

Corey, M., 1731W 

Corioni, M., 3459T 

Corless, C., 1237T 

Cormand, B., 2578T 

Cormier, T., 3699F 

Cormier-Daire, V., 127, 

324, 403, 915W, 3129W, 

3167W, 3240F 

Cornejo, O., 3362W 

Cornejo, O. E., 293 

Cornejo-Olivas, M., 2453F 

Cornelis, M., 2096F* 

Cornelissen, S., 1117T 

Cornell, M., 3610W 

Cornes, B., 1346W, 2041T 

Cornes, B. K., 269 

Corneveaux, J. J., 2104T, 

3215W 

Cornforth, M. N., 948T 

Corominas, R., 480W, 

2660F* 

Corona-Rivera, A., 3188F 

Corrado, L., 2775F 

Corral, J., 2627F 

Corrales, A., 2296T 

Corre, T., 1281T, 2165F, 

2366F 

Correa, H., 2385W 

Correa, P., 3388F 

Correia, C., 2261F*, 2417F, 

2502W 

Correia e. Silva, A., 3318T 

Corrier, K., 2826F 

Corriveau, R., 853F, 2300F 

Cortes, A., 152* 

Cortes, C., 2628W* 

Cortes, E., 1049F, 1077W 

Cortes, E. P., 2547W 

Cortes, M., 467F*, 3039W* 

Cortese, R., 377* 

Cortessis, V., 213 

Corti, S., 2775F 

Corvin, A., 2590T 

Corvol, H., 1322W, 2953W 

Corydon, T. J., 737F 

Cossette, P., 2306F, 2591F 

Cosso, M., 2062T 

Cost, G. J., 255 

Costa, A., 1293T 



Costa, A. F., 514W 

Costa, A. L. F., 514W 

Costa, A. P. P., 2485T 

Costa, C., 572W, 1768W, 

1796W* 

Costa, F. F., 426W, 2718F, 

2751F 

Costa, F. T., 3122F 

Costa, H. A., 371, 3411W* 

Costa, J. L., 1747W* 

Costa, P., 922T* 

Costa, R., 1920W 

Costa, V. P., 2286W, 2291F 

Costain, G., 2575T 

Costantini, S., 1060T 

Costes, B., 1768W 

Côté, G., 1951T 

Cote, L., 442W 

Côté, S., 2994T* 

Cotsapas, C., 1366F* 

Cotten, C. M., 3 

Cotton, A., 3514T*, 3734W 

Cottrell, C. E., 912T* 

Cottrell, J., 596W, 942T, 

1238F 

Cotugno, G., 3256F 

Coubes, C., 936T, 3121W 

Couch, F., 208 

Couch, F. J., 27, 207, 

1150T*, 1219T 

Couch, R. B., 2189F 

Coucke, P., 59, 2225F 

Coucke, P. J., 128, 129, 

833F, 1790W, 3137W 

Coude, F. X., 2431T, 2441F* 

Coughlin, C., 451F 

Coughlin, C. R., 2884W 

Coulet, F., 1170W 

Coulibaly, A., 3303T 

Coulson, R., 64 

Coulter, M. E., 8, 2613W 

Coupry, I., 716T, 2674W 

Courcet, J.-B., 2792T* 

Court, F., 3499T 

Courtenay, M., 3335W 

Courtenay, M. D., 2028W*, 

2318F 

Courtens, W., 2002T 

Courtney, M., 2629T 

Cousminer, D., 2097W* 

Cousminer, D. L., 2162F 

Coutant, S., 32, 345, 1222T, 

3538W* 

Coutinho, P., 2820F 

Couto, A., 1432F 

Couture, C., 1947W 

Couve, A., 3129W 

Couvelard, A., 29 

Covas, D. T., 1045T 

Coventry, A., 183 

Cover, T., 3388F 

Cowan, C., 520W, 1988F 

Cowan, J., 3622W 

Cowling, B. S., 2681T 

Cox, A., 1706T 

Cox, A. J., 1648T*, 1661T 

Cox, C., 294 

Cox, D. W., 2474F 

Cox, H., 1912T 

Cox, H. C., 2916F 


Cox, N., 368, 613T, 1480F 

Cox, N. J., 40, 424W, 623T, 

1003T, 1495F, 2192F, 

2196W, 2197T, 2333F, 

3735F 

Cox, V., 869W, 3139W 

Coxson, H. O., 2249F 

Coyle, M., 893W 

Cozad, R. A., 66 

Craft, J., 1021T 

Craig, B., 3644W, 3704W, 

3716W, 3731F*, 3733F 

Craig, D. M., 1594T* 

Craig, D. W., 1240T*, 

3215W 

Craig, J., 3484T 

Craig, J. E., 1785W 

Craigen, W., 163, 676T, 

2942T 

Craigen, W. J., 667F*, 683F 

Craigie, S., 1827W 

Craigie, S. M., 149, 150 

Crain, B., 1051T 

Crandall, B., 873W 

Crane, P., 2098T 

Crane, P. K., 342, 2488T 

Crapo, J., 2057F 

Crapo, J. D., 1425T, 2249F, 

2346W 

Crary, F., 64 

Crawford, B., 686T 

Crawford, D., 1377T, 1602T, 

1608T, 1928F, 2037W, 

2041T, 2098T 

Crawford, D. C., 226, 247, 

618T, 647T, 1316W, 

1447F, 1671T*, 1713T, 

2042F, 2298W, 2401T 

Crawford, M., 3359W 

Crawford, M. H., 3344W 

Creadon-Swindell, G., 451F 

Cree, A. J., 2072F 

Creech, C. B., 247 

Creech, M. L., 3588W 

Crenshaw, A., 290, 2098T 

Crenshaw, D., 2465F 

Crenshaw, D. G., 637T, 

1382W 

Cresci, S., 2535W 

Crespo, J., 1977W 

Crew, K. D., 1255T 

Crider, K. S., 1304W*, 

1310W 

Crim, C., 2249F 

Crisponi, L., 823F, 847F 

Cristino, L., 3492T 

Criswell, L., 3454T 

Criswell, L. A., 306, 1979F 

Crobu, F., 547F 

Crocco, E., 2637W 

Crocco, E. A., 2583W 

Croen, L., 463F 

Croen, L. A., 7, 2555F 

Croen, L. C., 2510F 

Cromer, M. K., 1241F* 

Crook, D. W., 1948T 

Crooks, L., 1518T 

Cropp, C., 1512T 

Cropp, C. D., 1302T* 

Crosbie, J., 2499W 

Crosby, J. R., 648T 

Crossley, B., 2260T 

Crosslin, D., 2098T* 

Crosslin, D. R., 1312F, 

1447F 

Crossman, D. K., 2759T 

Croteau-Chonka, D. C., 

108, 1427W, 1954T, 

2090F, 2123F, 2147F, 

2241W 

Crotti, L., 86 

Crotwell, P. L., 3151W 

Crouch, D. J. M., 1329T, 

3348T* 

Crouch, J., 148 

Crout, R., 2142W, 2156F, 

2178W 

Crout, R. J., 1464T, 1474F 

Crow, S., 605T, 2516F 

Crow, Y. J., 2452T 

Crowe, C., 456W 

Cruceanu, C., 2338T*, 

2482T 

Cruchaga, C., 340, 342 

Cruickshank, M., 3484T 

Cruts, M., 2815W 

Cruz, A. A., 2043W 

Cruz, L. A., 814F, 2414F 

Cruz, P., 1983W 

Cruz, P. R. S., 426W, 2751F* 

Cruz-Alcivar, R., 872T*, 

3040F 

Cruz-Bautista, I., 2256W 

Crystal, R. G., 2933T, 

3399W 

Cua, C. L., 2069F 

Cubells, J. F., 2383T, 2384F 

Cubillo, M. A., 926T 

Cubillo, M. A. L., 1018T 

Cucca, F., 113, 157, 177, 

186, 276, 547F, 823F, 

1391W, 1451W, 1516F, 

2001W, 2198F, 2329T, 

3377W, 3664W 

Cuccaro, M., 1786W, 

1787W* 

Cuccaro, M. L., 9, 588W, 

2445W, 2508W, 2572T, 

2614T, 3390T 

Cucco, F., 2695W 

Cuccuru, G., 157 

Cuckle, H., 274 

Cuebas, D., 662T 

Cuellar, F. L., 926T, 1018T 

Cuellar-López, F., 3061W* 

Cuenca-Roldán, T., 1131W 

Cuenco, K., 1464T* 

Cuenco, K. T., 1474F, 

2142W, 2156F 

Cuevas, O., 2365T 

Cuffe, S., 1108T 

Cui, C., 3317W 

Cui, H., 683F, 1087T, 1750W 

Cui, J., 1916F 

Cui, L., 2066F, 3123W* 

Cui, W., 722T 

Cui, W.-C., 1540F 

Cui, W.-Y., 2574W 

Cukier, H. N., 9*, 2445W, 

2614T 

Cukrowska, B., 1330F 

Cukuranovic, R., 3481T 

Cule, E., 1285F* 

Cullen, M., 30, 1218W, 

1517W, 3683F 

Cullinane, A. R., 709F, 

2838F* 

Culminskaya, I., 1991F*, 

2194T 

Culver, J. O., 1071W* 

Culver-Cochran, A. E., 

3515T* 

Cumiskey, A. M., 2220W 

Cummings, A. C., 1489F*, 

3335W 

Cummings, S. A., 109 

Cummings, S. R., 1576F, 

2375F 

Cumplido, J., 2296T 

Cunha, L. F., 2928F 

Cunha, P. S., 3107W, 3110F 

Cunha-Neto, E., 1593T 

Cunliffe, H. E., 1186T 

Cunningham, S., 166 

Cunningham, F., 3732W 

Cunningham, G., 670T 

Cunningham, J., 139, 1267T 

Cunningham, J. M., 1238F, 

3451T 

Cunningham, M., 126, 

2762T 

Cunningham, M. L., 33, 

813F, 2151W, 3070F* 

Cunninghame Graham, D. 

S., 306, 3382F 

Cuppen, E., 217, 400*, 

423F, 2886F, 3608W 

Cuppens, H., 1450F 

Cupples, A., 350, 2210F 

Cupples, L. A., 111, 117, 

170, 174, 317, 349, 

1346W, 1585T, 1599T, 

1954T, 2030F, 2052W, 

2073W, 2123F, 2147F, 

2337W 

Curbelo-Canabal, F., 3363T 

Cureklibatir, I., 1106F 

Curhan, G. C., 51 

Currall, B. B., 862T* 

Curran, J., 176, 1280W, 

1513F 

Curran, J. E., 533F, 1282F, 

1406W, 1923W, 2061W, 

2146T, 2308T, 2309F, 

2339F* 

Curry, B., 971W 

Curry, C., 869W 

Curry, C. J., 79, 1070F 

Curry, J. A., 2838F 

Curtin, J. A., 2211W* 

Curtis, R., 3605F 

Curtis, R. E., 2152T 

Cusano, R., 113, 177, 547F, 

823F, 3664W 

Cusanovich, D. A., 3251W 

Cuscó, I., 2711T 

Cushion, T. D., 262 

Cushman, M., 1662T 

Cushman-Spock, L., 1820F 

Cusi, D., 845F, 2095T

Cusin, V., 56 

Cussenot, O., 1001F, 1214F 

Cust, A. E., 212 

Custovic, A., 2168F, 2211W 

Cutiongco-de la Paz, E. C., 

2975T* 

Cutiongco-de la Paz, E. M., 

1805W 

Cutler, D. J., 2069F, 2312F, 

2576F, 3414W, 3628W 

Cutrer, F. M., 2362T 

Cutting, G., 1450F, 2953W 

Cutting, G. R., 78, 1322W, 

1731W, 3448T 

Cutts, A., 133 

Cvjetkovic, N., 1908W 

Cytrabaum, C., 2480F 

Cytrynbaum, C., 3420T 

Czape, K., 1787W 

Czeizel, E., 1936T 

Czerwinski, S. A., 2146T 

D 

Daavittila, I., 1892F 

Dabelea, D., 249 

Daber, R., 3040F 

D’Aco, K., 2871F* 

Dada, R., 2967T 

Dadaev, T., 205, 1011W, 

1109F 

d’Adamo, P., 2366F 

Dafou, D., 780W, 2896W, 

2925F 

Daggett, H. T., 2750T 

Dagle, J., 3537F 

Dagle, J. M., 1344T 

D’Agnano, D., 760W 

Dahan, K., 3098F* 

Dahdouli, M., 3576W 

Dahgam, S., 1970F* 

Dahl, A., 3224F 

Dahl, F., 3685F, 3709F, 3729F 

Dahl, M., 702T 

Dahl, N., 2920W 

Dahl, O., 991T 

Dahlin, A., 2166W 

Dahlman, K. B., 136 

Dahoun, S., 67 

Dai, A., 3596W 

Dai, C., 516W 

Dai, H., 1369F, 3649F 

Dai, J.-R., 3029T 

Dai, J. Y., 1408F 

Dai, L., 538W, 2529W 

Dai, Q., 3483T 

Dai, X., 1265F*, 1693T, 

2415W 

Dai, Z., 953W* 

Daiger, S. P., 3234F 

Dal, G. M., 2924T 

D’Alessio, V., 2916F 

Daley, D., 1465F* 

D’Alfonso, S., 2095T, 2775F 

Dalgeish, R., 3610W 

Dalgleish, R., 3732W 

Dalla Bernardina, B., 2795T 

Dallapiccola, B., 105, 943W, 

2777T 


Dallavale, F., 3121W 

Dallman, J. E., 297, 2445W* 

Dalton, G. C., 3324T 

Daly, A., 33, 45, 1676T 

Daly, K., 1971W 

Daly, M., 252, 322, 333, 352, 

1213T, 1520W, 1725W 

Daly, M. J., 11, 280, 290, 

295, 1523W, 2319W, 

2560T, 2577W, 2618F 

Daly, S., 2852T 

Damaraju, S., 1297F 

D’Amato, I., 2810T 

D’Amato, M., 2319W, 3631F 

Dames, S., 3637F* 

Damiani, D., 2706F 

Damiani, M., 994T 

Damiano, J., 3228F 

Danashi, A., 2301W 

Dancey, J., 135, 1824F 

Danchin, N., 609T 

Danda, D., 1701T 

Danda, S., 1701T 

Dandara, C., 1073F 

Danesh, J., 115 

Daneshjou, R., 646T* 

Dang, C., 2444F 

Dang, D., 759W 

Dang, D. A., 1998W, 1999T 

D’Angelo, A., 808F 

D’Angelo, C., 895W* 

Danhauser, K., 699F 

Daniels, M. L., 2851W 

Danila, M. I., 2047T 

Danjoh, I., 1277F* 

Danjou, F., 2001W 

D’Anjou, G., 2900T 

Dankel, S. N., 3536W 

Dantas, V. G. L., 891W 

D’Antoni, S., 513F 

Daoud, H., 2306F, 2342F, 

2797W* 

D’Aoust, L. N., 1489F, 

3335W* 

Daoutidou, E., 3396T 

Daoutidou, K., 2044T 

Dara, A., 2255F 

Darabi, H., 1934F, 2055W 

Darabos, C., 188* 

Darbari, D., 1259F 

Darbro, B., 419F 

Darcan, S., 3206F 

Darcansoy Iseri, O., 3424T 

Dardis, A., 692T, 2809W* 

DaRe, J., 688T* 

Darling, T. N., 33 

Darnell, J. C., 2587T 

Darnell, R. B., Session 24, 

2587T 

Daroy, M., 2466W* 

Daroy, M. L. G., 2473T 

Darst, B. F., 1839W* 

Darvasi, A., 17, 264, 3346F, 

3366T 

Darvish, D., 682T 

Das, K., 130, 315 

Das, P., 3262F 

Das, S., 958T, 1432F*, 

1737W, 1952F*, 2162F, 

3090F 


Das, S. K., 2011T*, 2192F 

D’Ascenzo, C., 1732W 

D’Ascenzo, M., 3688W 

Dasgupta, A., 1363F 

Dasgupta, N., 161, 690T* 

Dasgupta, S., 1885T 

da Silva, V. P. M., 1946F 

Dasouki, M., 3054F 

Dasouki, M. J., 2894T* 

Dassopoulos, T., 1381F 

Dastani, Z., 1595T* 

Dastgir, J., 711F 

Datar, C., 700T 

Datar, CA., 2803W 

Date, H., 52 

Datta, A., 3044F 

Datta, I., 1895F 

Datta, L. W., 1381F 

Dattani, M., 2701W 

Daub, A. C., 2643W 

Dauber, A., 131, 1960T 

Dauchel, H., 3538W 

Däumer, C., 1943F 

Dávalos, I. P., 3187W, 3188F 

Dávalos, N. O., 3187W*, 

3188F 

Davatchi, F., 2150F 

Dave, B. J., 968T 

Davenport, E. R., 2031W* 

Davey Smith, G., 583F, 

1318F, 1567F, 1583W, 

1626T, 2081F, 2097W, 

2164T, 2169W, 3455T 

David, A., 403, 1212W, 

3066F 

David, D. M., 152 

David, J., 950T 

David, V., 2893W*, 3170F 

Davidovic, L., 513F, 817F 

Davidovich, M., 3048F 

David-Padilla, C. M., 2975T 

Davidson, B., Session 23 

Davidson, B. L., 2636F 

Davidson, C., 3684W* 

Davies, A. G., 640T 

Davies, C., 142, 493F 

Davies, G., 2366F, 3466T, 

3486T 

Davies, J., 320, 1729W, 

1872F, 1873F 

Davies, K. E., 2649W 

Davies, M., 153, 546W 

D’Ávila, R., 2424W, 2626T 

Davila, S., 429F, 3047W 

Davis, B., 648T, 1346W 

Davis, E. C., 129 

Davis, E. E., 3* 

Davis, J., 433F, 1869F, 

3128F* 

Davis, L., 1901F 

Davis, L. K., 424W* 

Davis, M. F., 1489F, 2299T* 

Davis, O. S. P., 2164T 

Davis, P., 3484T 

Davis, R., 1337W, 3691F 

Davis, R. J., 393 

Davis, R. W., 1112F 

Davis, S. D., 2851W 

Davis, T., 512W, 2701W, 

2938W, 3517T 

Davis, T. B., 3702W, 3715F 

Davy, G., 1205F 

Daw, E. W., 1920W, 1921T 

Dawood, K., 1957T 

Dawsey, S. M., 1010F, 

1076F 

Dawson, A. J., 954T* 

Dawson, B., 2542T, 2854W, 

3209W 

Dawson, B. C., 795W 

Dawson, G., 2617T 

Dawson, L., 1066T 

Dawson, L. M., 1084T 

Dawson, S. J., 2302T 

Day, D., 153 

Day, F., 108, 1954T, 2090F, 

2123F, 2147F, 2241W 

Daya, M., 2007W, 3385F* 

Day-Williams, A. G., 169, 

2561F 

Daza, R., 322 

D-CarDia Collaboration, 271 

DCCT/EDIC Research 

Group, 2109W 

DDD and UK10K Projects, 

455F 

DDD Project, 101, 364 

De, G., 1431T 

de Alexandre, R., 1151F* 

de Alexandre, R. B., 3055W 

De Almeida, S., 129 

de Almeida M., F., 3123W 

Dean, E., 1152W* 

Dean, M., 1242W*, 2833W 

de Andrade, M., 618T, 

1312F, 1375F*, 1447F, 

1454W, 1497T, 2098T 

de Angelis, A., 808F* 

deAngelis, M., 385 

DeAngelis, M. M., 1305T*, 

2183F 

Deans, T. A., 611T 

de Araujo, T. K., 1903T 

Deardorff, M., 2904F, 3038F, 

3082F 

Deardorff, M. A., 2695W, 

2958F 

Deary, I. J., 2072F, 2366F 

de Assis, T. M. R., 2813T* 

De Backer, J., 128, 2225F 

De Baere, E., 539F, 2832F, 

2927T 

de Bakker, P. I. W., 87, 155, 

609T, 1659T, 1934F, 

2047T, 2210F 

de Becdelièvre, A., 572W, 

1768W 

De Benedetto, A., 1900T 

de Blois, M.-C., 915W 

de Boer, A., 609T 

de Boer, C. M., 1122W, 

1273T 

de Boer, E. N., 1619T 

DeBoever, C., 395 

De Borja, R., 1093T, 1256F 

Debortoli, G., 1946F* 

de Bot, S. T., 160 

Debrabant, B., 2244W 

de Broca, A., 3109W, 

3117W 



de Brouwer, A., 3165W 

de Brouwer, A. P. M., 100, 

102, 125, 160*, 672T 

Dec, E., 3144F*, 3213W 

Decaestecker, C., 3172F 

Decanini-Arcaute, H., 1030T 

de Carvalho, T., 691F 

de Castro, C., 895W 

De Castro, C. C. S., 1978T 

Decewicz, A., 1649T 

de Chadarévian1, J., 924T 

DeChene, E., 3219W 

Dechene, E., 2811F 

DeChene, E. T., 1769W 

Deciu, C., 3014T, 3016T 

Decker, B., 2219F 

Decker, P. A., 1351F 

de Coninck, T., 2820F 

de Coo, I., 708T 

de Coo, I. F. M., 2996T 

De Coo, R., 796W* 

DeCoteau, J. F., 3488T 

de Craen, A. J. M., 2035T 

de Denus, S., 3401W 

Dederich, D., 3656W, 3703F 

de Die, C. E., 2996T 

De Dios, J. K., 711F* 

Dedoussis, G., 106, 2044T, 

2097W, 3396T* 

Dedoussis, G. V., 110 

Deekajorndech, T., 2006F 

Deelchand, D., 2539T 

Deelder, A., 2107T 

Deelen, J., 2035T*, 2175W 

Deelman, E., 3558W 

Defebvre, L., 345 

DeFelice, M., 322, 1725W 

Defoort-Delhemmes, S., 390 

Degenhardt, F., 420W 

DeGiorgio, M., 3305W* 

Degner, J., 2 

de Groot, N., 3279T 

Deguchi, K., 234 

Dehghanpour, H., 2964F 

Dehner, L. P., 132 

Dei, M., 177, 1516F, 2198F, 

2329T 

Deidda, F., 157 

Deignan, J., 315 

Deignan, J. L., 130 

Deininger, P., 524W 

De Iorio, M., 1285F 

Dei Rossi, A., 1198T 

De Jaegere, S., 539F 

De Jager, P., 624T, 1415W, 

2488T 

De Jager, P. L., 380*, 528W, 

2250W, 3417T, 3450T 

DeJesus-Hernandez, M., 

2639F 

de Jong, D. J., 243 

De Jong, K. H., 3523T 

de Jong, S., 2553W, 

2661W* 

de Jong, V., 348 

De Jonghe, P., 201, 2948T 

de Jongste, J. C., 2168F 

de Jongue, P., 2820F 

De Jorge, L., 2627F 

Deka, R., 1660T*, 2159F 


Dekker, J., 255 

Dekker, J. M., 3455T 

Dekkers, J. C. M., 2717T 

de Klein, A., 834F 

de Klerk, E., 542W* 

de Koning, B., 708T 

de Koning-Tijssen, M. A. 

J., 200 

de Kovel, C. G. F., 2886F 

Delabar, J., 84 

De la Cruz Cabrera, O., 

3409W 

De La Forest, A., 587F 

Delahaye, A., 973W, 2784F, 

2957T 

De la Morena, M., 2949F 

Delaneau, O., 90*, 1484W 

Delaney, J., 1190F 

Delaney, J. T., 247 

Delaney, K., 714T, 801W 

Delaney, S. M., 614T, 3472T 

del Angel, G., 288* 

De la Rosa-Alvarado, R., 

1030T 

de la Torre, l., 3061W 

Delattre, V., 894T 

De La Vega, F., 1770W*, 

3602W 

De La Vega, F. M., 3352F 

Del Bo, R., 2775F 

Delbono, E., 2154W 

del Campo, M., 3084F, 3208F 

del Castillo, I., 1 

del Castillo, V., 875W, 956T, 

976T* 

Del Castillo-Ruiz, V., 872T, 

3040F 

de Leau, M., 1689T 

de Leeuw, N., 102, 955W*, 

979W 

de Léséleuc, L., 2003F 

Delettre, C., 2679F* 

Deleyiannis, F. W. B., 1936T 

Delezoide, A.-L., 77 

Delezoide, A. L., 3129W 

Delgado, P. A., 873W* 

Delgado, R., 694T 

Delgado, S., 2049W 

del Gaudio, D., 958T, 

1737W, 3090F 

Del Giudice, E., 943W 

Deliard, S., 812F 

Deligniere, A., 202 

de Ligt, J., 97*, 100, 102, 

215, 459F, 1749W 

Delio, M., 1494T* 

DeLisi, L. E., 2402F 

Dell, S. S., 2851W 

Dell’Angelica, E. C., 361 

Della Santina, C. C., 2301W 

Dellefave-Castillo, L., 

1614T, 1683T 

Dellinger, A., 531F 

Del Mistro, G., 3670W, 

3717F 

Delobel, B., 299, 3172F 

Delon, I., 1257W 

De Lonlay, P., 329 

de los Campos, G., 2201F 

Delot, E., 361 

Deloukas, P., 44, 110, 115, 

117, 383, 560W, 583F, 

1440T, 3441T, 3453T* 

Delozier, C. D., 1070F* 

Delphin, N., 324, 390 

Delpierre, C., 1817W 

Delprat, B., 2685F* 

del Rosario, M., 955W, 

2018F* 

Del Solar, M., 81, 767W, 

815F 

DeLuca, A. P., 60 

DeLuca, D., 368 

De Luca, V., 2408F* 

de Luca, V., 628T 

Deluce, J., 612T 

Delva, L., 2716W 

Del Zompo, M., 2342F 

Demachki, S., 1008W, 

1132T, 3421T, 3503T 

de Malliard, T., 31, 2266T, 

3260W, 3268F, 3341W 

De Marco, E. V., 2597F 

de Marco, L. A., 1902W 

De Mari, J., 685F 

Demartis, F., 2001W 

De Mazancourt, P., 890T 

Dembitzer, F. R., 3145W 

Dembour, G., 84 

de Medeiros, P. F. V., 1217F 

Demeer, B., 3117W*, 3241W 

de Mello, M. P., 478W, 479F 

de Melo, M. B., 2291F 

Demenais, F., 211, 1158W, 

1361W, 1461T, 1941W, 

2079W, 2248T 

DeMeo, D., 2057F 

Demerath, E., 2165F 

Demerath, E. W., 2146T, 

2336F 

Demeter, R., 2587T 

Demetriou, C., 3508T* 

Demetriou, M., 1493W 

Demichelis, F., 1100F 

Deming, S. L., 2202W 

Demirci, F. Y., 1647T, 1672T, 

1673T, 2099F*, 2125T, 

2521T, 3078F Demirhan, 

B., 3426T 

Demko, Z., 3018T 

Demko, Z. P., 73 

Demmer, L., Session 28 

Demmer, L. A., 66 

Demmer, R., 1638T 

Demontis, D., 2369F 

Demos, M., 750T 

Dempsey, J., 2243F 

Dempsey, J. C., 2789T 

Dempsey Nunez, L., 673F* 

Dempster, E., 3509T 

de Munnik, S. A., 955W 

Demuth, S., 2810T 

den Dunnen, J. T., 542W, 

574W, 2701W, 3586W, 

3611F* 

Dene, H., 2675T 

Deng, A., 1987T 

Deng, F.-Y., 2172W 

Deng, H. W., 1473T, 2053T, 

3534W 

Deng, H.-W., 1404T, 2172W 

Deng, L., 2433W 

Deng, T., 577F 

Deng, X., 379 

Deng, Z., 798W 

Denguezli, M., 2744T 

den Hamer, B., 2840T 

den Hertog, J., 215 

den Hoed, M., 2282F, 

2359T* 

De Nicola, S., 3492T 

Dennis, J., 205, 206 

Dennis, M., 12 

Dennis, M. Y., 14, 3296W* 

Denny, J., 1602T, 3622W* 

Denny, J. C., 247, 618T, 

631T, 1312F, 2299T 

Denny, J. D., 1345F 

Denoncourt, H., 1733W 

Denroche, R., 1227W, 

1256F 

Dent, R., 2236T 

Dentici, M. L., 105 

Denton, M., 2402F 

Deo, R., 1694T 

Deo, S. V. S., 1278W 

de Oliveira, P., 691F 

De Paepe, A., 128, 129, 

423F, 833F, 1790W, 

2225F, 3137W 

de Pagter, M., 400 

DePalma, S. R., 1677T 

de Paor, A., 1812F* 

Depienne, C., 2770W 

Deplancke, B., 415F 

de Pontual, L., 3172F 

Depping, R., 204 

De Preux Charles, A. S., 

810F 

Deprez, M., 3181W 

DePristo, M. A., 41, 280, 

288, 295 

Dequeker, E., 1874F 

de Ravel, T., 539F 

Derbent, M., 3243W 

Derebery, M., 2184W 

de Reuver, H. J. E., 1734W 

de Reuver, R., 1749W 

De Rijk, P., 2948T 

Derijks, L. J. J., 243 

Derkach, A., 1412W*, 

1531F, 2580W 

Derks, E. M., 2526W 

Derks, R., 2925F 

Dermadi Bebek, D., 982T 

Dermitzakis, E., 368, 583F, 

1440T 

Dermitzakis, E. T., 44, 401, 

415F, 546W, 556W, 

560W, 561F*, 567F, 

582W, 3441T 

Deroma, L., 692T 

DeRoo, L., 1564F 

DeRosa, B. A., 588W* 

Derouet, C., 1062W 

Derrick, A., 262 

Derrien, T., 506W 

Derry, C. P., 2741T 

Derse, A. R., 1837W 

DeRycke, M., 1214F

DeRycke, M. S., 986F*, 

1206W, 3564W 

de Sablet, T., 3388F 

Desachy, G., 99, 1274F, 

2555F* 

Desai, A. S., 2872W* 

Desai, K., 188 

Desai, M., 911W 

Desai, S., 911W, 1146W 

Descamps, B., 2225F 

Descamps, V., 29, 1062W 

Descartes, M., 884T, 898T 

Deschamps, L., 29 

Deschenes, M., 1848W 

DeScipio, C., 935W 

Desguerre, I., 202, 522W 

Deshommes, J., 259 

Deshpande, C., 2896W, 

2925F 

Deshpande, P., 3649F 

Désilets, V., 2790F 

Desir, J., 105 

Desmaris, C., 530W 

De Smedt, M., 2757F 

Desmyter, L., 2002T 

Desnick, R., 678T, 2926W 

Desnick, R. J., 652T, 1777W 

De Sousa, M., 2982T 

Despande, S. N., 2382W 

Dessein, A., 1949F 

Dessein, H., 1949F 

DeStefano, A. L., 1592T 

Destouni, A., 2995T* 

Destree, A., 3216F, 3218F 

Destrée, A., 127, 131 

Desudchit, T., 2749W 

Desvarieux, M., 1638T 

Detains, D., 56 

de Tayrac, M., 2126F, 

2893W, 3170F, 3328F*, 

3408T 

Deugnier, Y., 2126F 

Deuschl, G., 200 

Deutsch, S., 84 

DeValk, J., 3287W 

Deveaux, S., 1212W 

Devereau, A., 3610W 

Devgan, V., 1263W 

De Vilder, E., 1790W* 

Devilee, P., 27, 1213T 

Devillers, M., 1607T 

Devine, M., 1267T 

Devine, O. J., 1867F 

Devlin, B., 553F, 1433W, 

1520W, 2560T, 2577W, 

2617T 

Devlin, J., 544W 

Devlin, J. J., 1603T, 1714T 

Devlin, R., 1636T 

Devoto, M., 2316W 

Devriendt, K., 124, 2926W 

De Vries, B., 100* 

de Vries, B. B. A., 97, 103, 

125, 160, 955W 

de Vries, F. A. T., 980T* 

De Vries, J., 1848W 

de Vries, J. I., 3200F 

de Vries, P., 97 

Dewal, N., 1231T* 

Dewan, A., 76, 3024T 


Dewar, K., 2262W, 2320T, 

2343W 

Dewey, D., 3095W 

Dewey, F., 1601T* 

de Wind, N., Session 4 

de Wissel, M. B., 2909T 

DeWitt, W., 1255T 

De Witte, A., 922T, 975W 

DeYoung, J., 2262W, 

2661W 

De Zubicaray, G., 2054F 

D’haene, B., 2927T 

Dhanoya, I., 2411F 

Dharamrup, S., 66 

Dharmalingam, G., 2950W 

Dharuri, H., 228*, 2107T 

Dhaunsi, G. S., 2267F 

Dheedene, A., 59 

Dhillon, B., 2072F 

Dhillon, K. K., 137* 

Dhole, T. N., 1177T 

Dhooge, I., 2104T 

Dhruva, A., 1965W 

D’Hulst, C., 2527T 

Dhurandhar, N. V., 1406W 

Diallo, A., 3470T 

Diallo, O., 1670T, 2342F, 

2558F 

Diamond, B., 306 

Dianatpour, M., 1169F*, 

2987T 

Dianzani, I., 1153T* 

Dias, A., 896T, 899W 

Dias, C. M., 1968W, 2017T 

Dias, F., 1593T 

Dias, L., 1778W 

Dias-Baptista, I. M. F., 

2289W 

Diaw, L., 1259F 

Diaz, A., 2603F 

Diaz, A. R., 2572T 

Diaz, G., 774W 

Diaz, G. A., 168 

Diaz, K., 406, 2850F 

Diaz-Horta, O., 57 

Diaz-Martinez, R., 2019W 

Diaz-Matallana, M., 3363T 

Diaz-Sanchez, D., 1636T 

Diaz-Zabala, H. J., 1074W*, 

3363T 

Dibbens, L., 2898F 

Dibbens, L. M., 2741T 

Di Bella, D., 2764W*, 2781F 

Di Berardini, F., 2104T 

Dib-Haij, S. D., 2448W 

Dibilio, V., 2763F 

Dichgans, M., 1313W 

Dick, D. M., 2022W, 2504F 

Dick, J., 1193F 

Dick, J. E., 1093T 

Dick, K. J., 3453T 

Dickel, D. E., 254* 

Dickens, C. M., 433F, 465F 

Dickerson, C., 250 

Dickey, A. S., 2456F* 

Dickinson, K., 3038F 

Dickinson, K. A., 774W 

Dickinson, M., 834F, 839F 

Dicks, E., 139, 1084T 

Dickson, D. W., 346 


Dickson, P., 785W* 

Dickson, P. I., 695F, 697F 

Dicskon, P., 734T 

Didelot, G., 62 

Di Donato, N., 2595W, 3224F 

Diego, V. P., 1458T* 

Diehl, A., 531F 

Diehl, E. J., 378 

Diekhans, M., 3557F 

Diekmann, Y., 2261F 

Diekstra, A., 160 

Diener, S., 2693T*, 2922F 

Dierdorff, J., 419F 

Dierking, A., 1763W 

DietGen Consortium, 51 

Dietrich, A., 2602T, 3465T 

Dietz, H., Session 81, 80, 

81, 1609T 

Dietz, H. C., 79, 240 

Di Fiore, P. P., 1 

Di Gaetano, C., 1153T, 

1712T 

Digilio, M. C., 943W, 3087W 

Di Gregorio, E., 550W 

Dijamco, C., 1782W 

Dilks, H., 1377T, 1602T, 

1928F, 2037W 

Dilks, H. H., 1316W, 1671T 

Dill, E. M., 2557T 

Dillen, L., 2815W 

Dillman, A., 564W 

DiLullo, N., 2605T 

Dimalanta, E., 512W, 3517T 

Dimalanta, E. T., 3702W, 

3715F 

Di Marco, C., 2604W 

DiMauro, S., 232 

Dimitrova, N., 3316F 

Dimnik, L., 3141W, 3665F 

Dimos, J., 236 

Dimova, I., 3481T 

Di Muzio, A., 1776W 

Dindinger, M., 1068W, 

1244F 

Ding, B., 609T 

Ding, H. K., 1723W 

Ding, J., 154, 276*, 1391W, 

1952F 

Ding, K., 1312F 

Ding, L., 1203W* 

Ding, Q., 3355F 

Ding, S., Session 78, 2444F 

Ding, T., 1010F, 1076F, 

1218W 

Ding, Y., 314, 1735W, 

1742W, 1757W*, 1761W, 

3604W 

Ding, Z., 1440T 

Dingel, M., 1849W 

Dinges, D., 2592W 

Dingley, S., 2943F 

Dinh, H., 1757W, 2880F, 

2934F 

Di Nicola, M., 936T 

Dinov, I. D., 3587F 

Dinur, T., 746T 

Dinwiddie, D. L., 366, 

2793F*, 2894T 

Dion, P., 1670T, 1898F, 

2306F 

Dion, P. A., 2342F, 2558F, 

2591F 

Dionne, G., 2545T 

Dionne, R., 2221T, 3485T 

Dionne-Laporte, A., 1670T, 

2342F, 2558F 

Dionne laporte, A., 2306F 

Di Palma, G., 2597F 

Di Paola, J., 1889F 

Di Paolo, G., 2547W 

Dipchand, A., 1704T 

Dipple, K. M., 2238W 

Di Rienzo, A., Session 6, 

248, 2021F 

Di Rocco, C., 2235W 

Di Rocco, F., 763W, 2729T, 

3154F 

di Rocco, M., 127 

Di Sabato, M. L., 943W, 

2777T 

Disanto, G., 2015F 

Diskin, S., 2203T 

Disteche, C. M., 379* 

DiStefano, J. K., 1953W* 

Ditro, C., 3150F 

Dittwald, P., 432W*, 485F 

Diver, W., 1012T 

Diver, W. R., 1091F, 1390F, 

2202W 

Divers, J., 178, 1661T*, 

1662T, 3371W 

Divon, M., 432W 

Dixit, J., 2293T 

Dixon, A. K., 33 

Dixon, T., 239 

Dizier, M.-H., 1361W, 1461T, 

1941W*, 2079W, 2248T 

Djakovic, S., 508W 

Djimde, A., 2255F 

Djonov, V., 3481T 

Djouadi, F., 737F 

Do, C. B., 114, 179, 498W, 

1017W, 2089T, 2100W, 

2111F, 2115W, 2565W, 

3386W* 

Do, R., 120*, 350, 1331W, 

2199W, 2210F 

Doan, B., 1454W 

Dobbins, S., 1531F, 2580W 

Dobbs, M. B., 220, 2860W 

Dobkin, C., 2449T 

Dobra, A., 1500T 

Dobrovolny, R., 678T 

Dobrzeniecka, S., 2790F 

Dobson, J. M., 1105T 

Dobyns, W., 124 

Dobyns, W. B., 2389T 

Docampo, E., 2326T 

Doccini, V., 881W, 3050F 

Doco-Fenzy, M., 3165W, 

3241W 

Docquier, I., 1015T 

Dodd, A. F., 2576F 

Dodd, M., 1965W 

Dodge, M., 905W 

Dodurga, Y., 1025F, 1166F 

Doedens, M., 1193F 

Doelken, S. C., 2725W 

Doerfer, C., 2058W 

Doering, J., 591F, 865W 



Doerr, H.-G., 2356T 

Doerr, M., 1716W* 

Doerschner, K., 2924T 

Doevendans, P. A. F. M., 

609T 

Dogan, A., 2251T 

Dogan Sigva, Z. O., 1164W, 

1178F 

Dogini, D., 2653T* 

Dogini, D. B., 514W, 2609F 

Doheny, D., 678T* 

Doheny, K., 1447F, 2098T, 

2114F, 2139W, 2170T, 

2556W, 3644W, 3704W, 

3733F 

Doheny, K. F., 46, 123, 

1448W, 1452T, 3716W, 

3731F 

Doherty, D., 10, 2772F*, 

2789T, 2890W 

Doherty, L., 3494T 

Doherty, M., 2292W 

Doherty, S., 2292W 

Dohrn, N., 2862F* 

Doi, H., 1290T, 2822T, 3136F 

Doksum, T., 2974T 

Doktor, T. K., 737F 

Dola, E. R., 2422T* 

Dolan, C. R., 1753W 

Dolan, D. F., 1878W 

Dolan, M. E., 614T, 1495F, 

2333F, 3472T 

Dolan, S., 2974T 

Dolgado Bohorquez, E. E., 

432W 

Dolgalev, I., 998F 

Dollfus, H., 390, 2887W* 

Dolmetsch, R., 2479T 

Domchek, S. M., 1003T 

Domingo, E., 133 

Dominguez, J., 2466W 

Domínguez, J., 960T 

Dominguez, J. C., 2473T 

Dominguez-Aburto, J., 

3125W 

Domínguez Ortiz, J., 956T* 

Dominiczak, A. F., 845F, 

2072F 

Dommisch, H., 2058W 

Dompmartin, A., 83 

Dompmartin, J. B., 1015T 

Donadi, E., 1593T 

Donadi, E. A., 3277F 

Donahue, L., 983F 

Donahue, S., 3210F 

Donald, A., 2537F 

Donaldson, P. T., 153 

Doneda, D., 696T 

Dong, C., 1635T*, 1638T 

Dong, H., 3730W 

Dong, J., 2759T 

Dong, L., 824F, 830F 

Dong, S., 412W, 486W, 

2605T*, 3520T, 3604W 

Dong, Z., 1182W 

Donis, K. C., 2424W, 2626T, 

2642F 

Donkervoort, S., 3213W 

Donnai, D., Session 81, 127, 

2852T 


Donnelly, L., 609T 

Donnelly, M., 3232F* 

Donnelly, P., 181, 285, 

2157W, 2939T 

Donnelly, P. J., 1340W 

Donnelly, R., 1155W 

Donner, E., 3196F 

Donner, M., 86 

Donneyong, M., 2145W 

Donovan, J., 1011W 

Donovan, J. L., 1148F 

Donsante, A., 235, 791W 

Donti, T., 661F*, 667F, 676T, 

2942T 

Doody, R., 2489F, 2542T 

Dooley, C. M., 363 

Dooley, K., 2069F 

Dorfman, R., 1731W 

Dörk, T., 1117T 

Dornelles, A. D., 696T 

Dornelles-Wawruk, H., 903W 

Doros, L., 132 

Dörr, M., 275 

Dorrani, N., 315 

Dorsainville, D., 3004T 

Dorssers, L. C. J., 1122W 

Dorward, H., 709F 

Doshi, P., 1901F, 2284T 

Dos Santos, L., 1133F 

Dossari, H., 2743W 

Dott, B., 3073W 

Doty, A., 1061F 

Doty, C., 265 

Doty, S., 826F 

Douaihy, B., 3349F* 

Doucet, T., 1229F 

Doudney, K., 967W*, 3440T 

Dougherty, B., 133, 503F 

Dougherty, M., 1861F* 

Douglas, G., 399 

Douglas, J., 1211F 

Douglas, S., 198 

Doulatov, S., 1193F 

Doumatey, A., 241, 1515T, 

1886F* 

Doumbo, O., 2255F, 3303T 

Doummar, D., 2770W 

Dousset, V., 716T 

Douyard, J., 1729W 

Dovč drnovšek, T., 3381T 

Dovigi, E., 3672W 

Dowdy, E., 1636T 

Dowling, N. F., 1304W 

Downie, J., 2982T 

Downing, J. R., 31 

Dowty, J. G., 141 

Doxiadis, G., 449F 

Doyle, A. J., 79* 

Doyle, J., 80 

Doyle, J. J., 79, 240 

Doyle, LW., 3484T 

Doyle, M. A., 1224W 

Dozmorov, I., 1901F 

Dozmorov, M., 549F 

Draaken, M., 1005W 

Drabant, E., 2565W 

Drabant, E. M., 2100W* 

Drack, A. V., 2671W 

Dragomir, C., 2954T 

Dragosky, M., 773W 

Drake, W. M., 780W 

Drapeau, P., 1910F 

Draper, D., 711F 

Drayna, D., 1956W, 1958F 

Drechsel, O., 2940F, 3661F 

Drehman, B., 1826F 

Drenos, F., 122, 1606T 

Dresbach, A., 2063F 

Dressen, A., 347, 492W, 

2603F 

Dreszer, T., 3557F 

Drévillon, L., 843F, 3157W, 

3241W* 

Drew, C., 262 

Drichel, D., 106 

Drigalenko, E., 1406W 

Drigalenko, E. I., 1282F 

Driman, D. K., 1138T 

Driscoll, D., 65 

Drnasin, K., 845F 

Drobnic, K., 3286F 

Drogemoller, B., 644T* 

Drohan, B., 2974T 

Droin, N., 2716W 

Droit, A., 1215W 

Drong, A., 3435T* 

Drongitis, D., 2629T 

Dror, A., 2914W 

Drory, V., 63 

Drost, J., 3350W* 

Drouin, V., 124 

Druker, H., 1055F* 

Drumm, M., 2953W 

Drumm, M. L., 1322W 

Drummond, J., 1257W 

Drunat, S., 3166F 

Drury, S., 1773W 

Drury, S. C., 1748W* 

Druschel, C. M., 2151W 

D’Souza, D., 1093T 

Du, L., 2998T 

Du, Q. Y., 1723W 

Duan, J., 1282F, 2576F 

Duan, Q., 622T*, 1427W*, 

2166W 

Duan, Y., 2910F 

Dubé, M., 1670T 

Dube, M.-P., 3401W 

Dubey, G. K., 588W 

Dubinsky, A. N., 508W* 

Dubois, B., 2086T 

Dubois, J., 2424W 

Dubois, S., 1951T 

Dubois d’Enghien, C., 1205F 

Dubourg, C., 2893W, 3170F 

Dubowsky, A., 1785W 

Dubra, A., 3212F 

Dubrovsky, M., 3345T 

Ducci, F., 1597T 

Ducker, S., 153 

Duclos, J., 1170W* 

Duda, P., 2561F 

Dudas, M., 3717F 

Dudding, T., 198, 3167W 

Dudek, S., 226, 1442W 

Dudekula, D. B., 1391W 

Dudley, J. T., 562W 

Dueker, N., 2614T* 

Dueker, N. D., 9, 2330F 

Duerr, R., 1942T 

Duerr, R. H., 1381F, 1466W, 

2319W 

Duffin, K. C., 1952F 

Duffy, E., 1754W 

Dufke, A., 2595W, 3109W 

Dufour, S., 842F 

Duga, B., 3283F 

Dugan-Rocha, S., 3 

Duggal, P., 1512T, 3393W, 

3616W* 

Duggan, D., 1608T 

Duggirala, A., 3455T 

Duggirala, R., 176, 1280W, 

1406W, 1513F, 1923W, 

2061W, 2308T, 2339F 

Dugueperoux, I., 1728W 

Duijkers, L., 216 

Duijts, L., 2168F 

Duker, A. L., 3150F 

Dulac, O., 202 

Dulencin, A., 2467T 

Dullea, K., 3671F 

Dumaine, A., 259 

Duman, D., 57 

Dumanski, J. P., 434W 

Dumas, K., 501F, 1687T* 

Dumas, L., 433F* 

Dumaz, N., 29 

Dumitrescu, L., 618T*, 

1608T, 1671T 

Dumitrescu, L. C., 2298W 

Dumitrescu, M., 3005T, 

3009T, 3067W* 

Dumitriu, A., 2227T* 

Dumonceaux, J., 2840T 

Dumont, B. L., 278 

Dunaif, A., 2327F 

Dunaway, K. W., 2783T 

Duncan, E. L., 2053T 

Duncan, G., 222 

Duncan, I., 2778F 

Duncan, J. S., 2741T 

Duncan, R. L., 2855T 

Duncan, S., 587F 

Duncavage, E., 3637F 

Duncombe, A., 390 

Dungan, J., 3541F 

Dunham, I., 35 

Dunivin, R., 3330T 

Dunlap, K., 1919F 

Dunlop, J., 1724W 

Dunlop, M., 1072T, 2072F, 

2366F 

Dunn, L., 1965W 

Dunn, S. H., 1715T 

Dunn, T., 3710W 

Dunning, A., 208, 1011W, 

1150T 

Dunning, A. M., 206, 209, 

210 

Duno, M., 702T 

Dunoe, M., 2765T 

Dunston, G., 1926W*, 

2043W 

Dupé, V., 2893W 

Dupérée, A., 778W 

Dupius, L., 3100F 

Duplomb, L., 2716W*, 

2770W 

DuPont, B. R., 2826F, 3052F

Dupont, J., 3165W 

Dupré, N., 1670T 

Dupuis, A., 2499W 

Dupuis, J., 269, 279, 

1346W, 2337W 

Dupuis, L., 103, 1738W*, 

3106F, 3183W 

Dupuis, S., 556W 

Duque, F., 2417F, 2502W 

Durakovic, Z., 1660T 

Durambure, C., 1090T 

Duran, K., 217, 400, 2886F 

Duran, P., 2705T 

Duran, R., 753T 

Durand, C., 841F 

Durand, E., 3386W 

Durand, E. Y., 179* 

Durán-González, J., 2363F 

Durán-McKinster, C., 872T, 

3040F 

Durasi, M., 2450F 

Durbin, R., 44, 252, 546W, 

1440T 

Durfee, T., 3671F 

Duriaux-Sail, G., 2937F 

Durie, P., 142, 2953W 

Durie, P. R., 1322W 

Durmaz, A., 965W 

Durmaz, B., 965W*, 3214F 

Durnall, J. C., 2816T 

Durr, A., 2539T, 2638T 

Dursun, A., 702T 

Durtschi, J., 2720T, 2951T, 

3638W* 

Durtschi, J. D., 3643F 

Duru, N., 984W 

Dutch National Board for 

DNA-Diagnostics (LOD), 

3650W 

Dutil, J., 996W, 1074W, 

1987T, 3360T, 3380W 

Dutra, A. R., 3045W 

Dutra, R., 896T, 899W 

Dutra-Clarke, A., 1159T 

Duttgupta, R., 1142F* 

Duzenli, S., 2956W* 

Duzkale, N., 1326T* 

Dvorakova, L., 570W 

Dvoskin, R., 1829W 

Dweik, D., 2919F 

Dworzynski, P., 2241W 

Dyack, S., 167, 2480F, 

3143W* 

Dyer, T., 1280W, 1513F 

Dyer, T. D., 176, 533F, 1406W, 

1923W, 2061W, 2146T, 

2308T, 2309F, 2339F 

Dykxhoorn, D., 489F 

Dykxhoorn, D. M., 588W 

Dyment, D. A., 1775W, 

2794W* 

Dzakula, Z., 3014T 

Dzenkeviciute, V., 920T 

Dzidic, N., 3054F 

E 

EAGLE, 2164T 

Eapen, V., 8 


Earl, D., 466W, 2740W 

Earl, J., 1091F 

Early Growth Genetics 

Consortium, 2067W, 

2097W, 2162F, 3028T 

East, C. E., 2309F 

Easton, D., 28, 205, 208, 

1001F, 1011W, 1214F 

Easton, D. F., 206, 207, 209, 

210, 1148F, 1150T 

Eaton, A., 1841W 

Eaton, M. L., 380, 3417T, 

3450T 

Eaton, W., 2541W 

Eaves, E., 3512T 

Eaves, L. J., 2277W 

Ebata, R., 1631T 

Ebbert, A., 2444F 

Ebel, C., 328 

Eberhardt, J., 2058W 

Eberle, M. A., 596W, 942T* 

Eberlein, K., 2557T 

Ebers, G., 2015F 

Ebert, P. J., 1235F 

Ebisawa, M., 2294F 

Ebrahim, S., 885W*, 1626T, 

3455T 

Ebrahimi, A., 1175F, 1615T, 

1961F, 1962W, 2964F, 

3197W* 

Ebran, J. M., 1790W 

Eccles, D., 1912T 

Eccles, M. R., 3440T 

Ece, A., 2719W 

Eck, S., 2922F 

Eck, S. H., 2557T, 3539F* 

Eckart, N., 2461T, 2486F* 

Eckert, G., 1969T 

Eckhold, J., 204, 2958F 

Eckl, K., 2869W* 

Ecklund, A., 2103W 

Eckman, P., 1665T 

ECLIPSE and COPDGene 

Coauthors, 2249F 

Edberg, J. C., 1979F 

Eddy, E., 1953W 

Edelman, E., 2974T* 

Edelmann, L., 652T, 958T, 

1777W, 3488T, 3724W 

Edelmann, S., 2663T 

Edelson, C., 390 

Edelson, V., 2974T 

Edenberg, H., 2598W 

Edgin, J., 2529W 

Edgren, H., 2888T 

Edie, S., 310* 

Edsall, C., 2611T 

Eduardo Arroyo-Pardo, E., 

3364F 

Edwards, A., 105 

Edwards, B., 2649W 

Edwards, D., 2145W 

Edwards, D. C., 3735F* 

Edwards, K., 1848W, 

2538W 

Edwards, L. D., 2249F 

Edwards, R., 2581T 

Edwards, R. P., 993W 

Edwards, S., 209, 2006F 

Edwards, S. L., 210 


Edwards, T., 2063F, 2145W, 

3299W* 

Edwards, T. L., 2131T 

Edwards, Y., 2603F 

Eeles, R., 28, 205*, 1001F, 

1011W, 1109F, 1214F 

Eeles, R. A., 1148F 

EGEA Collaborative Group, 

1361W, 2079W, 2248T 

Egeland, T., 1547W 

Egertson, J., 10 

Eggens, V. R. C., 197* 

Egger, G., 2570F, 2575T 

Eggermann, T., 3111W 

Eggert, P., 3587F 

Eggert, S. L., 2056T* 

Ehm, M., 294, 1491T, 1686T 

Ehm, M. G., 476W, 641T, 

649T*, 3282T, 3406T 

Ehmke, B., 2058W 

Ehret, G., 1387F 

Ehret, G. B., 1639T 

Ehret, J. K., 3109W 

Ehrich, M., 3014T, 3016T 

Ehrlich, M. E., 2801T 

Ehrmann, D., 249 

Eicher, J. D., 1973F*, 2010W 

Eichler, E., 93, 98 

Eichler, E. E., 10, 12, 14, 74, 

94, 274, 278, 375, 2491T, 

3296W 

Eickholz, P., 2058W 

Eid, J., 477F 

Eidem, H., 316 

Eike, M. C., 3614W* 

Eikelboom, J., 617T 

Eiklid, K., 921W 

Eilbeck, K., 3637F 

Eilertson, K., 3361F 

Einarsdottir, E., 2023T, 

2177F* 

Eini, R., 1122W 

Eisenbarth, G., 1330F, 

3454T 

Eisenberg, D. T. A., 2036F* 

Eisinger, F., 1212W 

Eisman, J. A., 2176T 

Eisner, F., 1115F 

Eisner, G., 245 

Ek, J., 2765T* 

Ek, W. E., 2190W* 

Ekelund, E., 1939T 

Ekelund, U., 2359T 

Ekhilevitch, N., 3202F 

Ekici, A., 2557T, 3153W* 

Ekici, A. B., 2160W, 2356T, 

2595W, 2666T 

Eklund, L., 1611T 

Eklund, N., 2366F 

Ekong, R., 3322F 

Ekstrom, C., 1353T* 

El Agwany, A., 930T 

Elalaoui, S., 2937F 

Elamin, T., 3149W 

Elangovan, R., 771W 

Elazar, Z., 53 

Elbaik, L., 3149W 

Elbaz, R., 1922F 

Elbers, C., 283, 1606T, 

3303T 

Elboim, C., 1965W 

Elboudwarej, E., 1924T, 

3454T* 

El Chehadeh, S., 2716W 

El Chehadeh-Djebbar, S., 

2729T* 

Elcioglu, N., 219 

Eldar-Geva, T., 2991T, 

2993T 

Elder, J. T., 154, 1952F 

Eldin, K., 661F 

Elemento, O., 376 

Elghezal, H., 944T 

Elhaik, E., 2305T*, 3329W, 

3377W 

El Hajj, N., 3266W 

El-Hattab, A., 163 

El Hokayem, J., 3129W* 

Elhosary, P. C., 266 

Elias, A. F., 658T* 

Elias, E., 238* 

Eliasson, S. C., 805F 

Elie, C., 72 

Eliou, M., 2905W 

El-Kannishy, G., 1922F* 

Elkhartoufi, N., 3240F, 

3246F 

Elkin, E., 1841W 

Ellard, S., 2704W, 2709F*, 

2935W, 3494T 

Elling, U., 110 

Ellinghaus, D., 1942T*, 

2103W, 2314T, 3583F 

Ellinghaus, E., 154, 2101T* 

Ellingson, M. S., 1058F 

Ellingwood, S., 886T 

Ellinor, P. T., 1585T 

Ellinwood, N. M., 695F, 

785W, 2717T* 

Elliott, A., 3681F 

Elliott, A. M., 3535F 

Elliott, H. R., 3455T* 

Elliott, K. S., 1948T* 

Elliott, P., 3435T 

Elliott, S., 727F 

Ellis, J., 2337W, 2525F 

Ellis, M. K., 1948T 

Ellison, J., 66 

Ellonen, P., 327, 897W, 2888T 

Ellsworth, D. L., 1649T* 

Ellsworth, R. E., 1002W, 

1780W 

Elmslie, F. V., 2896W 

El Saafi, S., 1949F 

Elsea, S. H., 103, 1717W 

El-Shanti, H., 2713W*, 

2728W, 2899W, 3140F 

ElShanti, H., 3526W 

ElSharawy, A., 515F*, 

2368T, 3224F 

Elshimali, Y., 1034F 

Elsner, G. L., 871W 

Elstein, D., 746T*, 788W 

Elston, R. C., Session 8 

Elton, L., 432W 

El Waly, B., 2457W* 

Elyaman, D., 2411F 

Emanuael, B., 1494T 

Emanuel, B., 65, 3038F 

Emberly, E., 3734W 



eMERGE Network, 618T 

Emerging Team in Genomics 

in Screening, 149 

Emerson, C. P., Jr., 2962W 

Emerson, J., 171 

Emerson, R., 530W 

Emery, A. E., Session 68 

Emes, R., 809F 

Emhoff, J., 3680W, 3700W 

Emilsson, V., 1436W 

Emiroglu, M., 1 

Emond, M., 2346W 

Emond, M. J., 171* 

Emrick, L., 163* 

Emsley, R., 644T 

Encarnacion, M., 346 

Encha-Razavi, F., 77, 403, 

3240F 

ENCODE Project 


Endele, S., 2595W 

Eng, C., 158, 898T, 1075T, 

1144T, 1716W, 3363T 

Eng, C. M., 314, 1735W, 

1742W*, 1757W, 1761W 

Eng, L., 1591T 

ENGAGE Consortium, 119, 

1308T, 2076W, 2175W 

ENGAGE (European 

Network for Genetic and 

Genomic Epidemiology) 


Engelhardt, B., 372* 

Engelman, C., 1267T 

Engelman, C. D., 2020T* 

Engels, H., 2595W, 3109W 

Engle, E. C., 2928F 

Engle, J. L., 1016F* 

English, M. A., 824F 

Enjolras, O., 83 

Enjorlas, A., 1015T 

Enneman, A., 109 

Ennis, S., 2072F, 2283W, 

3494T 

Enns, G. M., 744T 

Enomoto, K., 1795W, 

2891T, 3091W* 

Enquobahrie, D., 584W, 

1284T, 1503T 

Enriquez Lencinas, L., 2033F 

Entelis, N., 329 

Enterline, D., 1919F 

EPIC Gastric Cancer 

Working Group, 987W 

Epigen-Brazil, 3562W 

Eppig, J. T., 2675T* 

Epping, E., 422W 

Eppsteiner, R. W., 60 

Erasmus, C. E., 160 

Erdem, G., 2852T 

Erdman, C. A., 2517W 

Erdman, L., 456W, 912T 

Erdmann, J., 115, 3453T 

Erez, A., 165*, 433F, 795W 

Ergul, E. A., 1746W, 1801W* 

Erhart, G., 3319F 

Erickson, E. A., 2442W* 

Erickson, R. L., 213 

Erickson, R. P., 2752W, 

2788W 


Erickson, S., 1459F* 

Eriksson, F., 434W 

Eriksson, J., 109, 252, 656T, 

2059T, 2116T, 2134T, 

2162F, 2350T 

Eriksson, J. G., 2110T, 

2173T, 2366F 

Eriksson, M., 2427W 

Eriksson, N., 106, 114*, 

498W, 617T, 619T*, 626T, 

1017W, 1782W, 2087F, 

2089T, 2100W, 2111F, 

2115W, 2127W, 2149T, 

2565W 

Eriksson, P., 1651T, 3685F, 

3729F 

Erkan, D., 2330F 

Erkhembulgan, P., 3248F* 

Erlanger, B., 1229F 

Erlich, H. A., 3713F 

Erlich, Y., 333, 1797W*, 

3711F 

Erm, T., 1140W 

Ernst, A., 2862F 

Ernst, C., 554W, 2482T, 

2562W*, 3470T 

Ernst, F., 3701F 

Ernst, S., 1824F 

Ernster, M., 963W 

Erogullari, A., 204* 

Erraffi, K., 2899W 

Erte, I., 2138F 

Ertekin-Taner, N., 343 

Erturk, B., 2719W 

Esbensen, A., 1847W 

Escamilla, M., 2495F 

Escande, F., 3172F 

Escano, C., 245 

Escaramís, G., 2303F 

Eskenazi, B., 3458T 

Eskin, E., 39*, 180, 1337W, 

1341T, 1386T, 1480F, 

2262W, 3555F, 3598W, 

3623F, 3639F, 3657F 

Esko, T., 108*, 119, 154, 

584W, 1284T, 1308T, 

1503T, 1792W, 2076W, 

2137T, 2165F, 2241W, 

2366F, 3353W 

Eslamizadeh, S., 1056W 

Esmaeeli Nieh, S., 2389T* 

Esmall, A., 3700W 

Esmer, M. C., 3119W 

Esparza Gordillo, J., 1942T, 

2102F* 

Espay, A., 2538W 

ESP Blood Pressure Project 

Team, 1692T 

Espeseth, M., 1753W 

Espinosa, I., 1054T 

Espinosa-Parrilla, Y., 987W* 

Espinoza, K., 1658T, 2065T 

Esplin, E. D., 869W* 

Esplin, S., 1904F 

Esposito, C., 1060T 

Esposito, D., 3711F* 

Esposito, E., 505F 

Esposito, F., 624T, 2095T 

Esposito, T., 2916F* 

Essand, M., 434W 

Essioux, L., 242 

Ester, A., 952T 

Esterberg, E., 1869F 

Estes, A., 2406W 

Esteves, L. M., 2288F* 

Estivill, X., 84, 567F, 582W, 

2303F*, 2326T, 2940F 

Estour, B., 2278T 

Estrada, K., 109, 1334W, 

2053T, 2169W, 3608W 

Estrada, S. C., 707F 

Etain, B., 259 

Etchegary, H., 149, 150*, 

1827W 

Etemadi, A., 1076F 

Eubanks, J., 3509T 

Eun, B., 908T 

Euro, L., 327 

EUROBATS Consortium, 

546W 

European Network for 

Genetic and Genomic 

Epidemiology 


Euskirchen, G., 3361F 

Euskirchen, G. M., 3368W 

Evangelou, E., 109 

Evans, D., 343, 1567F, 

2537F 

Evans, D. M., 351, 560W, 

1318F, 1528F, 1583W, 

2081F, 2164T, 2169W 

Evans, D. S., 2145W, 

2375F* 

Evans, D. W., 2439W 

Evans, J. P., 231 

Evans, M. D., 1270T 

Evans, P., 3540W* 

Evans, T., 3517T 

Evans, T. C., 3715F 

Evenson, M., 912T, 1028F 

Everhart, S. L., 1781W* 

Eversley, C., 1777W 

Evgrafov, O., 2444F 

Evrony, G. D., 266 

Evsyukova, I., 2454W 

Ewing, A. D., 466W*, 1229F 

Eyheramendy, S., 1336F* 

Eymard, B., 328 

Eyre, D. R., 222, 2853F, 

2854W 

Eyre, S., 2231F 

Eyries, M., 1170W 

Ezekowitz, M., 619T 

Ezekowitz, M. D., 617T 

Ezgu, F., 745F 

Ezzatizadeh, V., 761W 

F 

Faas, B. H. W., 955W 

Fabbri, H. C., 478W* 

Faber, C. G., 2448W 

Fabian, J., 969W 

Faccini, L., 1851F 

Facio, F. M., 316 

Factor, S., 2538W 

Fadel, H., 2930T 

Fadista, J., 47*, 2187W 

Fagerholm, R., 1171T* 

Fagundes de Carvalho, E., 

3364F, 3402T 

Fahiminiya, S., 706T 

Fähling, M., 522W 

Fahn, S., 442W 

Failla, P., 100 

Fain, P., 3454T 

Fain, P. R., 1454W 

Fairfax, B. P., 373*, 563F 

Fairley, C., 3242F 

Faivre, L., 1293T, 2716W, 

2729T, 2770W, 2792T, 

3240F 

Fakhro, K. A., 2933T*, 

3399W 

Falah, N., 3030T* 

Falcão, R. P., 1045T 

Falcao-Alencar, G., 1147T, 

2243F 

Falconnet, E., 561F, 2937F 

Falik-Zaccai, T., 199* 

Falissard, B., 2545T 

Falk, M., 534W 

Falk, M. J., 330, 2943F*, 

3653F 

Falk, R., 300 

Fall, T., 108, 1624T*, 2358W 

Fallah, M. S., 3197W 

Fallahi-Sichani, M., 1162T 

Fallet-Bianco, C., 77 

Fallin, M. D., 343, 463F, 

1472W, 2563T 

Fallon, J., 2469W 

Fam, H. K., 2849T 

Fan, B., 1887W* 

Fan, J. B., 596W, 1193F, 

3451T 

Fan, J.-B., 942T, 1238F 

Fan, J.-H., 1010F 

Fan, J. H., 1076F 

Fan, S., 1369F 

Fan, W., 888T, 1110W* 

Fancher, K., 983F 

Fanen, P., 572W 

Fang, E., 399 

Fang, F., 3237W 

Fang, J., 1097F 

Fang, P., 337 

Fang, Q., 1878W* 

Fang, R., 3612W 

Fang, S., 1291F*, 1409W 

Fang, X., 3081W 

Fanganiello, R., 852F* 

Fann, C., 1557T 

Fann, C. S. J., 1380T, 3457T 

Fann, S. J., 2245T 

Fann, Y., 1774W 

Fannemel, M., 3096F 

Fanning, J., 3700W 

Fanous, A. H., 2500T 

Faraco, J., 2543F 

Faraone, S., 1498F 

Faraone, S. V., 2515T 

Faravashi, N., 975W 

Fardeau, M., 328 

Fardo, D., 1147T, 2243F 

Fare, T., 2220W 

Fares-Taie, L., 390 

Farez, T., 778W

Faria, R. G., 1903T 

Farias, F. H., 2847F 

Farias, T. D. J., 1405F 

Farina, G., 157 

Fariss, R. N., 824F, 2183F 

Färkkilä, M., 2023T, 2348F 

Farley, J., 1186T 

Farlow, J., 2556W* 

Farmaki, A., 2044T 

Farmaki, A. E., 3396T 

Farmer, A., 2703F*, 3727F 

Farnham, J. M., 1149W 

Farokhi, E., 2013W 

Farook, V. S., 2339F 

Farooqi, I. S., 43 

Farrall, M., 115, 1640T 

Farrell, J., 385, 2563T 

Farrer, L., 385*, 1571W, 

2207F, 2498F 

Farrer, L. A., 343, 344, 1305T, 

1476T, 2503T, 2511W, 

2528F, 2563T, 2621F 

Farrer, L. B., 2488T 

Farrer, M., 2537F 

Farrer, M. J., 346 

Farrow, E., 366 

Farrow, E. G., 2894T 

Faruque, M., 2043W 

Farwell, L., 1754W 

Fasquelle, L., 2685F 

Fast, S., 1371T 

Fatahi, F., 2008T* 

Fatemi, A., 2907F 

Fatemifar, G., 1528F* 

Fathalla, B., 2713W 

Fathi, D., 3163W 

Fattal-Valevski, A., 2447F 

Faucz, F., 1151F, 3055W* 

Faucz, F. R., 870T 

Faugère, V., 2947W 

Faulkner, G., 1229F 

Faury, D., 1182W 

Fava, V., 1899W 

Fava, V. M., 1978T, 2289W 

Favarin, M. C., 1045T 

Favaro, F., 2673F, 2746W* 

Favor, J., 1689T, 2684T 

Fawcett, G. L., 595F, 2413T* 

Fazio, S., 1634T 

Fazli, H., 860T 

Fecenko-Tacka, K., 853F 

Feehery, G. R., 3702W 

Feely, S. M. E., 1871F 

Feenstra, B., 1528F, 3028T 

Feenstra, I., 58 

Feger, C., 328 

Feguson, J., 1642T 

Fehrmann, R. S. N., 1284T, 

1503T 

Fei, J., 2985T 

Feigenbaum, A. S., 2759T 

Feinerman, B., 792W* 

Feingold, E., 22, 253, 1438F, 

1464T, 1474F, 2034W, 

2069F, 2142W, 2156F, 

2178W 

Feingold, M., 131 

Feitosa, M., 1920W 

Feitosa, M. F., 111, 1650T*, 

1913F, 2073W, 2275T 


Fejerman, L., 1075T* 

Fejes, A., 3641F, 3662W 

Fejes, A. P., 2772F 

Feki, A., 67 

Feld, R., 1108T 

Felder, R., 245 

Feldhahn, M., 1200W, 

1233W 

Feldman, D., 998F 

Feldman, M. W., 1112F 

Feldmesser, E., 2875W 

Feliciani, C., 745F 

Feliperamirez, D., 3036F 

Felix, J., 111 

Felix, J. F., 2073W 

Felix, S. B., 1503T 

Felix, T., 2270F* 

Felix, T. M., 2746W 

Fellay, J., 2050T 

Fellmann, F., 2877F 

Fellous, M., 3345T 

Felsenfeld, A., 1845W 

Feng, B., 2545T 

Feng, F., 1004F 

Feng, G., 1666T 

Feng, H., 2420F 

Feng, J. S., 2985T 

Feng, Q., 647T 

Feng, S., 521F, 1444F, 

1568W*, 3541F* 

Feng, T., 1376W* 

Feng, Y., 3509T 

Fenizia, F., 1060T 

Fenton, J., 2767W 

Fenwick, A. L., 218 

Feolo, M., 3330T, 3582W, 

3625F 

Ferasin, S., 2708T 

Ferec, C., 1728W* 

Fereira, J. A., 2395T 

Feret, H., 2904F 

Ferguson, B., 595F 

Ferguson, C. J., 2471F 

Ferguson, J., 2204F, 3551F 

Ferguson, N., 1065W 

Ferlazzo, E., 2780T 

Fermano, Z., 2381F 

Fernandes, A., 1968W, 

2017T 

Fernandes, B., 994T 

Fernandes, G. R., 776W, 

1202F 

Fernandes, J. K., 1662T 

Fernandes, R., 1747W 

Fernandes, S., 2982T 

Fernandez, B., 175 

Fernandez, B. A., 2575T, 

3086F 

Fernandez, C., 2274W 

Fernandez, L., 196*, 2389T 

Fernandez, P., 3332W 

Fernandez, T. V., 2602T 

Fernandez-Lopez, J. C., 

3255T* 

Fernández-Rhodes, L., 

2042F 

Fernhoff, P., 1679T 

Ferrandino, A., 334 

Ferrannini, E., 1624T 

Ferrante, D., 1153T 


Ferrara, A., 2140T 

Ferrari, C., 299 

Ferrari, I., 903W, 961W 

Ferraris, A., 943W, 2777T 

Ferrat, F., 2866W 

Ferraz-de-Souza, B., 361 

Ferreira, A. C. S., 182, 1573F 

Ferreira, C. A., 2813T 

Ferreira, M. A. R., 2161T, 

2323T* 

Ferreira, R., 1343W, 3600W 

Ferreira, R. C., 2091W 

Ferreira, R. G. M., 2352W 

Ferreira, S. G., 814F 

Ferreira, T., 108, 119, 1308T, 

1954T*, 2076W, 2123F, 

2137T, 2147F 

Ferreira, Z., 3306T* 

Ferreira-Gonzalez, A., 

3512T 

Ferreiro, A., 2945T 

Ferrell, R., 2960T 

Ferrell, R. E., 1963T 

Ferrer, X., 716T 

Ferrer Admetlla, A., 3311W* 

Ferrero, I., 2810T 

Ferrer-Torres, D., 3254W 

Ferretti, V., 135 

Ferriero, R., 164* 

Ferrucci, L., 1391W, 2148W 

Ferry, K. M., 2999T 

Fert-Bober, J., 80 

Fertrin, K. Y., 2751F 

Ferwerda, B., 283 

Fesel, C., 1979F 

Festen, E. M., 1503T 

Fetni, R., 2866W 

Fett-Conte, A. C., 2270F 

Feuer, E., 1543F 

Feuk, L., 2920W, 3728W 

Fialho, S. C. M. S., 1405F 

Fichera, M., 100, 3114F 

Ficicioglu, C., 705F 

Field, L. L., 1936T 

Fielding, S., 1773W 

Fields, S., 311 

Fierro-Rodriguez, D. A., 

3187W 

Fietze, I., 2568W 

Figarella-Branger, D., 328 

Figlin, R. A., 651T 

Figueira, P., 2385W 

Figuera, L. E., 650T, 1111T, 

1128W 

Figueroa, A., 3350W 

Figueroa, J., 1117T, 2296T 

Figueroa, J. D., 1091F 

Filges, I., 3044F*, 3109W 

Filho, R. C. C., 3130F 

Filhol, E., 324 

Filichev, V. V., 3440T 

Filipescu, G. A., 2728W 

Filippi, T., 881W, 3050F 

Filippova, G., 2634W 

Filippova, G. N., 55 

Filosa, S., 2629T 

Finch, S. J., 1338T, 1359T 

FIND Consortium, 1914W 

FIND Research Group, 

1348F 

Finegold, D., 2960T* 

Finelli, M. J., 2649W 

Fingerlin, T., 433F 

Fingert, J. H., 2750T 

Finkbeiner, S., 2643W 

Finkel, R., 1702T 

Finnerup, N. B., 2369F 

Fiocchi, C., 1466W 

Fiorentino, F., 71* 

Fiorillo, E., 1516F 

Fiorito, G., 1153T, 1712T 

Firinu, D., 1516F 

Firl, R., 1267T 

Firmino, A., 1946F 

Firth, H., 101, 291, 364 

Firth, H. V., 3109W 

Fisch, A. S., 602T* 

Fisch, G., 3092F* 

Fischbeck, K. H., 2470T 

Fischer, A., 2103W*, 3224F 

Fischer, J., 1952F 

Fischer, K., 190, 1792W*, 

1954T, 2123F, 2144F, 

2147F, 2175W, 3353W 

Fischl, B., 2444F 

Fish, A., 2321F* 

Fish, A. E., 1286W 

Fishbein, M., 1685T 

Fisher, D., 144 

Fisher, J. A., 3708W 

Fisher, L., 2184W 

Fisher, S. A., 968T 

Fisher, T., 316 

Fisher-Hoch, S. P., 2048F, 

2345F 

Fishman, E., 80 

Fishman, L., 1738W 

Fishman, S. J., 83 

Fitzgerald, K., 2430W 

FitzGerald, O., 2160W 

Fitzgerald, T., 101, 364, 

455F 

Fitzgerald, T. W., 291* 

Fitzgerald-Butt, S., 1680T 

Fitzgerald-Butt, S. M., 

1646T 

Fitzpatrick, A. L., 1653T 

FitzPatrick, D., 4, 101, 291, 

364, 3072F 

Flachsbart, F., 515F, 1943F*, 

2295W, 2303F 

Flaman, J.-M., 1090T* 

Flanagan, J., 732T 

Flanagan, J. M., 2331W* 

Flanagan, S., 3494T 

Flanagan, S. E., 2704W, 

2709F 

Flannagan, J. M., 648T 

Flannery, K. C., 1769W 

Flannick, J., 169, 172*, 

1677T, 2209T 

Flax, J., 2381F 

Fleming, A., 361 

Fleming, F., 422W 

Fleming, M. R., 202 

Fleming, M. T., 1878W 

Fletez-Brant, C., 545F 

Flexeder, C., 2167T 

Flicek, P., 464W, 497F, 

3636W, 3732W 



Flickinger, M., 1448W* 

Flierl, A., 803W 

Flint, J., 105, 355 

Flodman, P., 1791W 

Flogelova, H., 845F 

Florendo, D., 2466W 

Florendo, D. J. A., 2473T 

Florentin-Arar, L., 539F 

Florer, J. B., 736T* 

Flores, C., 2296T 

Flores, D., 2495F 

Flores, R., 2711T, 3084F 

Florez, J., 249, 2307W 

Florez, J. C., 50, 269 

Florian, I. S., 849F 

Florin, A. T., 1145F 

Floyd, J., 1518T* 

Fluiter, K., 197 

Flutre, T., 273* 

Flyvbjerg, A., 2070W, 2358W 

Foco, L., 2039F 

Fode, P., 1323T 

Fogarty, M. P., 46, 1627T, 

2012F* 

Fogarty, S., 2395T 

Fogarty, Z. C., 3564W 

Foisy, S., 1678T, 1982F* 

Fojtík, P., 2865F 

Fok, A. S. L., 821F 

Fokkema, I. A. C., 3610W 

Fokkema, I. F., 3611F 

Fokstuen, S., 2877F, 2937F 

Foley, A. R., 2812W 

Foley, J., 3037W 

Foley, R., 2945T 

Folk, J. C., 2750T 

Folkersen, L., 1651T 

Folseraas, T., 2101T 

Fölster-Holst, R., 1939T 

Folwaczny, M., 2058W 

Fombonne, E., 175 

Fomous, C., 1762W 

Fong, J. C., 2639F* 

Fong, J. H., 300 

Fong, K., 2971T 

Fonseca, A. C. S., 874T*, 

882T 

Fonseca, S. A. S., 882T 

Fonseca-Kelly, Z. D., 1756W 

Fonseka, C. Y., 444W 

Fontana, E., 2795T 

Fontanillas, P., 169, 176, 

269 

Fontes, A. M., 1045T 

Fontes, F., 1977W 

Foo, J. N., 1934F*, 2055W 

Footz, T., 575F* 

Forabosco, A., 847F 

Ford, B., 442W 

Ford, J., 2043W 

Foreman, M. G., 1425T 

Forestier, E., 1023W, 1024T, 

1035W, 3427T 

Forge, A., 2663T 

FORGE Canada Consortium, 

131, 2772F, 2790F, 2794W, 

2800W, 3127W 

FORGE Consortium, 701F 

Forman, E. J., 2999T 

Forman, J., 2354F 


Forman-Neall, L., 1859F 

Fornage, M., 350, 1592T, 

2210F, 2269T 

Fornarino, S., 3304F 

Forni, S., 1684T 

Foroud, T., 2136W, 2531F, 

2556W 

Foroud, T. M., 343, 2511W 

Forouhi, N. G., 1626T 

Forrest, G., 1605T 

Forrester, T., 2158T 

Forsberg, L. A., 434W* 

Forsberg, R., 3641F, 3662W 

Forsblom, C., 2307W 

Forsmark, L., 3685F 

Forsstrom, L., 2888T 

Forster, M., 3583F 

Forsythe, E., 3211W* 

Fortes, F., 1102T 

Fortner, M., 474W 

Fortugno, P., 2760F 

Fortuna, A., 913W* 

Forzano, F., 131 

Fosdal, I., 2699T 

Foskett, T. J., 824F 

Fosså, S. D., 991T 

Foster, B., 368 

Foster, C., 2043W 

Foster, J. G., 103 

Foster II, J., 57 

Fostira, F., 1191W*, 1228T 

Fotia, G., 823F 

Foulkes, W., 28, 1001F, 

1262F, 3595F 

Foulkes, W. D., 1065W, 

1214F 

Founds, S. A., 1884W 

Fountzilas, G., 1228T 

Fowler, B., 1874F 

Fowler, S. P., 2339F 

Fowler, V. G., Jr., 1323T 

Fox, A. S., 2413T 

Fox, C., 2337W 

Fox, C. S., 1954T, 2030F, 

2123F, 2147F 

Fox, E., 2063F 

Fox, E. R., 1677T 

Fox, J. E., 884T 

Fracasso, N. C. A., 3280F 

Frackelton, E., 319, 1996T, 

1997F, 2229W, 2252F, 

2722W, 2785W*, 2856F, 

2872W, 2892F, 2904F, 

3573F 

Frade, A. F., 1593T 

Fraga, L. R., 3031T 

Fragata, A., 1593T 

Framstaller, P. P., 2116T 

França, M. C., Jr., 2609F, 

2653T 

Francalacci, P., 3377W 

Francannet, C., 894T 

Francelle, L., 259 

Franceschini, N., 111, 

1437T, 1599T, 1913F, 

2042F, 2063F, 2073W*, 

2145W, 2336F, 2337W 

Francioli, L., 459F 

Francis, R. M., 3419T 

Francisco, V., 2085W 

Francis-West, P., 814F 

Francke, U., Session 57, 

114, 1017W, 1782W*, 

2089T, 2100W, 2111F, 

2115W 

Franco, A., 2234F 

Franco, B., 808F, 2810T, 

2955F 

Franco, L. M., 337, 2158T, 

2189F* 

Francois, G., 2002T 

François, S., 716T 

Franek, B. S., 2046W 

Frank, J., 2087F 

Frank, M. B., 529F, 2188T 

Franke, A., 154, 515F, 

1939T, 1942T, 2058W, 

2101T, 2102F, 2103W, 

2303F, 2314T*, 2315F, 

2319W, 2368T, 3224F, 

3583F 

Franke, B., 243, 306, 621T, 

1498F 

Franke, L., 108, 461F, 523F, 

1284T, 1330F, 1503T, 

1621T, 2088W 

Frankel, W. L., 1173W 

Frankish, A., 367, 506W 

Franklin, C., 2082W* 

Franklin, N., 743F* 

Frankowski, H., 2628W 

Franks, P., 249, 2187W 

Franks, P. W., 117, 1954T, 

2123F, 2147F 

Fransen, E., 59, 2104T*, 

2948T 

Fransen, K., 461F 

Frants, R., 2107T 

Franzil, A. M., 692T 

Frase, A., 1442W, 3542W* 

Frase, A. T., 3624W 

Fraser, D., 630T, 1491T 

Fraser, R. M., 1383T 

Frasson, M. C., 3107W* 

Fraumeni, J., 1012T 

Frauscher, B., 2567F, 

2568W 

Frayling, T., 269, 584W, 

1284T, 1503T, 1513F 

Frayling, T. M., 108, 176, 

1624T, 1923W, 2148W, 

2241W, 2308T, 2339F 

Frazer, K., 3307F 

Frazer, K. A., 395, 1051T 

Frebourg, T., 32, 345, 

1090T, 1212W, 1222T, 

3538W 

Frederickson, K., 1242W 

Fredrich, M., 740T* 

Fredrickson, K., 2301W 

Freebairn, L., 1295W 

Freedland, S., 1185W 

Freedman, B., 1706T, 2332T 

Freedman, B. I., 1648T, 

1661T, 1879T, 1979F, 

2046W, 2310W 

Freedman, M. L., 1231T 

Freedman, N. D., 1010F, 

1076F 

Freedman, S., 2328W 

Freeman, A. C., 2805F 

Freeman, C., 1031F 

Freeman, N., 2608T 

Freeman, S. B., 3042F 

Freese, D. K., 718T 

Freeze, H. H., 1758W 

Freidin, M. B., 2271W* 

Freimer, N., 252, 1480F, 

2262W, 2343W 

Freimer, N. B., 2222F, 2320T 

Freisinger, P., 699F, 782W, 

2917W 

Freitas, E. L., 439F, 891W*, 

961W 

Freitas, I. S., 1902W 

Freitas, J., 3656W 

Freitas, L. G., 3130F 

Frelin, L., 3374W 

French, J., 210 

French, J. D., 209 

French, S., 981W 

French LFS Working Group, 

1090T 

Freppon, D., 893W 

Freudenberg, J., 306, 

3403W* 

Frey, M. K., 1272W 

Frias, S., 875W*, 928T, 

956T, 960T, 1048T, 

1049F 

Frías, S., 976T 

Frick, S. L., 2860W 

Fridley, B., 139, 603T 

Fridley, B. L., 1247F, 

1426F*, 3451T 

Fridman, C., 1629T*, 2706F 

Friedburg, M., 3142F 

Frieden, I., 2926W 

Friederich, M., 2884W 

Friedlander, C., 3652W* 

Friedländer, M., 567F 

Friedlnader, C., 3619F 

Friedman, B., 3163W 

Friedman, D. S., 2154W, 

2240F 

Friedman, E., 3336T*, 

3345T 

Friedman, J. M., 1840F, 

1846W 

Friedman, J. S., 2183F 

Friedman, L., 2919F 

Friedman, R., 2104T, 

2184W 

Friedman, S. D., 2530T 

Friedman, T. B., 2724F 

Friend, K., 198 

Friez, M. J., 2901F 

Frints, S. G. M., 215 

Frisch, E., 699F 

Fritsch, C., 580W 

Froguel, P., 2162F 

Frolenkov, G. I., 2663T 

Froment, A., 283, 3303T, 

3338W 

Fromer, M., 290, 1325W, 

2577W, 2618F 

Frommolt, P., 2861T 

Fronick, C., 2325W 

Frost, J. M., 3501T 

Frucht, S., 442W

Frumkin, A., 3048F 

Fry, A., 124 

Fry, G., 3717F 

Frydman, M., 2919F 

Frydman, N., 72 

Frydman, R., 72 

Frye, M., 605T, 2516F 

Fryns, J. P., 124 

Fryssira, H., 84, 2937F 

Fryzek, J., 1565W 

Fu, A., 3707F 

Fu, A. Q., 1580W* 

Fu, B., 438W 

Fu, C., 2850F 

Fu, J., 523F 

Fu, R., 443F 

Fu, W., 10, 283 

Fu, Y., 3483T 

Fu, Y.-H., 2581T, 2779W 

Fu, Y. H., 2423F, 2610W, 

2667F 

Fu, Y. P., 1092W 

Fu, Y.-P., 1091F* 

Fucci, L., 3492T 

Fuchs, H., 1919F 

Fuchs, T., 2801T* 

Fuchsberger, C., 46, 88*, 

172, 176, 1513F, 1923W, 

2308T, 2339F 

Fuentes-Fajardo, K., 359, 

2610W, 2938W, 3543F 

Fuji, N., 726T 

Fujii, N., 2400W 

Fujimoto, A., 396* 

Fujio, K., 1984T 

Fujioka, R., 2647T 

Fujioka, Y., 2472W 

Fujita, H., 2071T 

Fujita, K., 52, 3221W 

Fujita, M. Q., 1321F 

Fujita, P., 3557F 

Fujita, R., 3377W 

Fujita, Y., 3230F 

Fujiwara, T., 2400W 

Fukai, K., 3146F 

Fukao, A., 1549F 

Fukuda, S., 559F 

Fukuda, Y., 2409W, 2569T 

Fukumaki, Y., 2400W, 

2647T* 

Fukushi, D., 2748F 

Fukushima, Y., 2758W, 

3043W, 3230F 

Fuller, A., 332 

Fuller, C., 2246F* 

Fuller, J., 2933T, 3399W 

Fullerton, S. M., 1828F* 

Fulmer-Smentek, S., 922T, 

975W, 3726W 

Fulp, J., 1061F 

Fulton, L. L., 2587T 

Fulton, R., 484W*, 1210T, 

2325W 

Fulton, R. S., 244, 2587T 

Fumagalli, M., 3289F, 

3312T* 

Fun, J., 1859F 

Funalot, B., 2694F 

Funanage, V. L., 2855T 

Funato, F., 755W 


Funayama, M., 1730W, 

2559W, 3134F, 3221W 

Funke, B. H., 1677T, 1754W 

Furey, T. S., 292 

Furge, K. A., 1186T 

Furlan, L., 825F 

Furlotte, N., 1337W, 3598W* 

Furtado, G. V., 2424W, 

2626T, 2642F 

Furth, S. L., 2121W 

Furukawa, M., 3513T 

Furuya, H., 2400W* 

Furuya, N., 1795W, 2891T 

Fusco, C., 775W, 3087W, 

3256F 

Fusco, F., 505F, 2629T 

Fusco, I., 2827W 

Futerman, A. H., 2869W 

Futscher, B. W., 3712W 

Fuwa, M., 2129F 

Fuzzell, D., 3335W 

Fylaktou, I., 2995T 

G 

Gaál, E. I., 1253F 

Gaasterland, D., 2154W, 

2240F, 2263T 

Gaasterland, T., 2154W, 

2240F, 2263T 

Gaba, C., 1454W 

Gabelle, A., 2638T 

Gabelli, C., 2775F 

Gabis, G., 660T 

Gaborieau, V., 1012T, 

1496W 

Gabriel, L. A. R., 3130F* 

Gabriel, S., 8, 280, 322, 

1490W, 1725W 

Gabriel, S. B., 1677T, 

2613W 

GABRIEL and EArly 

Genetics and Lifecourse 

Epidemiology Consortia, 

2168F 

Gaddis, N., 2114F 

Gaddis, N. C., 2170T 

Gadelha, A., 2533T, 2534F 

Gadi, I., 949W 

Gadi, I. K., 3113W 

Gaede, K. I., 2103W 

Gaedigk, R., 811F 

Gaffney, D., 3507T 

Gaffney, D. J., 153 

Gaffney, P., 1901F 

Gaffney, P. M., 306, 549F, 

566W, 2046W, 2084F 

Gage, F. H., 436W 

Gagliardi, M., 2763F, 

2766F*, 2774T, 2780T 

Gahl, W., 359, 755W, 

2610W 

Gahl, W. A., 709F, 711F, 

1702T, 2442W, 2838F, 

2870T, 2938W, 3080F, 

3543F 

Gai, X., 1756W, 2884W, 

2943F, 3653F* 

Gaieski, D. F., 3329W 


Gaieski, J., 3373F 

Gaieski, J. B., 3329W*, 

3377W 

Gail, M. H., 1314T 

Gaillard, D., 403, 3241W 

Gaillard, R., 2081F 

Gaillon, T., 3157W 

Gaio, V., 1968W*, 2017T 

Gajecka, M., 934T* 

Galabov, A., 3481T 

Galanello, R., 2001W 

Galanter, J. M., 158, 3385F 

Galanther, J., 3363T 

Galarneau, G., 1906T, 

2247W* 

Galas, D. J., 195 

Galasko, D., 340 

Galavotti, R., 2548T 

Galaxy Development Team, 

3545F 

Galaxy Team, 3547F 

Galea, S., 435F 

Galeone, D., 2766F 

Galesi, O., 100 

Galhano, E., 3019T 

Galimberti, D., 2095T 

Galindo, P., 694T 

Gall, A., 2163W 

Gall, T. R., 3543F* 

Gallagher, C. J., 1016F, 

1107W 

Gallagher, L., 2770W 

Gallagher, R. C., 3133W* 

Gallant, N. M., 712T* 

Gallardo, M., 546W 

Gallego Romero, I., 3322F 

Gallegos, L. P. C., 3064F 

Gallegos, M., Jr., 1111T* 

Gallegos, M. P., 1077W, 

1127F, 1128W 

Gallentine, W. B., 3 

Gallinger, S., 141, 1067F, 

1079F, 1093T, 1206W, 

3478T 

Gallo, C., 3327T 

Gallo, E., 80 

Galluzzi, G., 1776W 

Galusca, B., 2278T 

Galvez-Peralta, M., 2800W 

Gamazon, E., 613T, 2333F 

Gamazon, E. R., 269, 424W, 

623T, 1003T, 1495F, 

2192F, 2196W*, 2197T 

Gambardella, A., 2763F, 

2766F, 2774T, 2780T 

Gambin, A., 432W, 485F 

Gambin, T., 432W, 485F*, 

898T 

Gambineri, E., 3114F 

Game, L., 1618T, 2005T 

Gameiro, C., 572W 

Gamez, J., 2930T 

Gámez-Nava, J. I., 2363F 

Gammill, H. S., 74, 94 

Gammon, A. D., 1058F 

Gan, X., 355* 

Gandhi, M. K., 1042T 

Gandolfi, B., 3252T 

Gandy, A., 3518T 

Gandy, S., 940T 

Ganesh, S., 1663T 

Ganesh, S. K., 1408F, 

1639T*, 1659T 

Gangnon, R., 1267T 

Ganguly, A., 140, 391* 

Ganguly, B. B., 3010T* 

Ganguly, T., 140, 391 

Ganna, A., 2105F* 

Gantz, B. J., 2301W 

Gao, C., 824F 

Gao, F., 125, 3415T* 

Gao, G., 1354F*, 1410T, 

3442T, 3452T, 3604W 

Gao, H., 1112F*, 1369F, 

2358W* 

Gao, J., 1558F* 

Gao, L., 1900T, 2043W 

Gao, X., 221, 1004F, 

2153F*, 2217W, 3108F* 

Gao, Y., 36 

Gao, Z., 285 

Gapstur, S., 205 

Gapstur, S. M., 1091F 

Garbanati, J., 753T 

Garbarini, J., 65 

Garbes, L., 236 

Garcia, L., 2360F 

Garcia, M., 834F, 839F, 

2145W, 2165F 

García, N., 987W 

Garcia, R., 946T* 

Garcia, V., 54 

Garcia-Barceló, M.-M., 408, 

1930T*, 2066F, 2932W, 

3123W 

Garcia-Blanco, M. A., 

2454W 

Garcia-Closas, M., 206, 

1091F, 1117T, 1150T 

García-Closas, R., 1091F 

García-Cruz, D., 3187W, 

3188F 

Garcia-Figueroa, J., 682T 

Garcia Garcia, G., 2947W 

Garcia-Guzman, A., 3062F* 

Garcia-Hernandez, N., 

1168T 

García-Miñaúr, S., 126, 217 

García-Ortiz, H., 48 

García-Robaina, J. C., 

2296T 

García Robles, R., 2990T 

Gardeitchik, T., 672T 

Garden, G. A., 2628W 

Gardner, J., 1291F 

Gardner, J. C., 3212F 

Gardner, R., 1263W 

Gardner, S., 1874F, 3579F 

Garg, N., 1587T, 1598T 

Garg, P., 3516T 

Garg, V., 195 

Garge, N., 1392T 

Garnai, S., 2135F 

Garner, J., 3582W, 3625F 

Garraway, L. A., 402 

Garrec, C., 1204T* 

Garrett, M., 531F* 

Garrett, M. E., 2340W 

Garrett, T., 2041T 

Garrett-Bakelman, F., 3464T 



Garrido, L. M., 1343W, 

2352W 

Garrido, M. A. H., 1018T 

Garrison, E., 41* 

Garrison, N., 1813W* 

Gartioux, C., 2436W 

Garvey, W. T., 1662T, 3371W 

Garwood, M., 821F 

Gary, D. S., 545F 

Gasanova, V., 1181F 

Gascon, G. G., 8 

Gaspar, H., 2928F 

Gaspar, H. B., 1748W 

Gaspard, H., 129 

Gasparini, P., 1484W, 

2128T, 2366F 

Gasperini, M., 263 

Gass, M., 2360F 

Gassmann, M., 3705F* 

Gastier-Foster, J., 456W 

Gastier-Foster, J. M., 912T 

Gates, H. L., Jr., 2087F 

Gatinois, V., 936T* 

Gatti, R. A., 790W 

Gat-Viks, I., 322 

Gau, C., 1736W 

Gauderman, W. J., 2153F 

Gaudet, M., 208 

Gaudi, S., 2564F 

Gaudreault, N., 1655T 

Gauguier, D., 1640T 

Gaulton, K., 176, 1513F 

Gaulton, K. J., 172, 1519F, 

1627T, 2324F* 

Gautel, M., 2945T 

Gauthier, J., 2306F, 2338T, 

2342F, 2558F 

Gauthier, M.-P., 532W, 3684W 

Gautier, E., 1293T 

Gauvin, H., 1478W* 

Gavier, M., 1834F 

Gawrieh, S., 441F, 1667T 

Gayagay, T., 3167W 

Gaynor, J. W. G., 2443T 

Gayther, S., 139, 210 

Gayther, S. A., 1156T 

Gazave, E., 183 

Gazdar, A., 1454W 

Gazula, V., 202 

Gazzellone, M. J., 2575T 

Gbeha, E., 2266T, 3260W, 

3268F, 3341W 

Ge, B., 256, 394, 569F, 

1207T, 1215W, 3514T 

Ge, D., 53, 2335T 

Ge, J., 2403W*, 3544W* 

Ge, M., 661F 

Ge, R. L., 3378T 

Gearhart, J., 3704W 

Gecz, J., 2629T 

Gécz, J., 2640W 

Gee, H. Y., 406 

Geer, J., 33 

GEFOS Consortium, 109, 

1334W 

Gehrig, C., 561F, 2877F 

Gehring, W., 2430W 

Geiger, E. A., 819F, 2884W 

Geigl, J. B., 1063T*, 1115F, 

3116F 


Geiser, H., 3656W 

Geiss, G., 1039T* 

Gejman, P. V., 1282F, 2576F 

Gekas, J., 3060F, 3071W* 

GELAC Study Group, 989F 

Gelb, B. D., 82 

Gelb, M. H., 727F 

Gelber, S., 3012T 

Gelernter, J., 2207F, 2497T, 

2503T*, 2621F 

Geller, F., 1528F, 3028T* 

Gellera, C., 2764W, 2775F* 

Gelley, L., 3316F 

Gelman, A., 53 

Geloso, M. C., 2235W 

Gelowani, V., 61, 63* 

Gemelos, G., 3018T 

Gemma, A., 1697T 

GENCODE Consortium, 367 

Generation Scotland, 1618T 

Genereux, D. P., 1580W 

Genes in Schizophrenia 

(GENESIS) Consortium, 

2600F 

GENESIS Consortium, 1624T 

Genetic Analysis of Psoriasis 

Consortium, Wellcome 

Trust Case Control 

Consortium 2, 154 

Genetic Consortium for 

Anorexia Nervosa, 

Wellcome Trust Case 

Control Consortium 3, 

2522F 

Genetic Disorders of 

Mucociliary Clearance 


Genetic Investigation of 

ANthropometric Traits 

Consortium, 2123F, 

2241W 

Genetic Investigation of 

ANthropometric Traits 

(GIANT) Consortium, 

1954T 

Genetics of Obesity-Related 

Liver Disease 


Genetics of Type-2 Diabetes 


GENEVA Alcohol 

Consumption Working 

Group, 2228F 

Genevieve, D., 2386T, 

3121W, 3166F 

Geng, L., 2840T 

Geng, Z., 1542T* 

Genick, U. K., 1281T 

GENIE Consortium, 2307W 

Génin, E., 2126F, 3328F, 

3408T* 

Genographic Consortium, 

3329W, 3349F, 3373F 

GenoMEL Consortium, 211 

Genome of the Netherlands 


Genome Reference 


Genome-Wide Association 

Studies of Prostate 

Cancer in African 

Americans, 1324F 

Genomics and Randomized 

Trials Network ( GARNET), 

123 

Genovese, G., 284*, 2618F 

GenTAC Consortium, 1700T 

GenTAC Investigators, 

1743W 

Gentry, R. C., 9 

Gentschew, L., 1943F 

Genuardi, M., 1130F 

George, A., 1302T 

George, B., 931W 

George, E., 1019F 

George, M. F., 1289W*, 

1301W 

George, P., 967W 

George, V., 3418T 

Georges, M., 256 

Geppert, M., 3364F, 3402T 

Geraedts, J. P. M., 2996T 

Gerafi, S., 858T 

Geraghty, E., 2890W* 

Geraghty, M. T., 160, 701F*, 

719F 

Gerard, M., 2887W 

Gerards, M., 708T 

Gerber, S., 324, 390 

Gerdes, M. G., 2443T 

Gerety, S., 101, 364 

Gerfen, J., 338* 

Gerges, N., 1182W 

Gerhard, G. S., 2078F 

Gerhart, D., 140 

Gerig, G., 2529W 

Gerkes, E., 126 

Germain, D. P., 772W*, 890T 

Germain, N., 2278T 

Gerrits, M. M., 2448W* 

Gerry, N., 966T 

Gerry, N. P., 632T 

Gersak, K., 2929W 

Gershenwald, J., 1291F 

Gershon, E. S., 1957T 

Gerstein, M., 334, 551F, 

2444F, 3251W 

Gerstein, M. B., 41, 280 

Gertz, E. M., 1958F 

Gervin, K., 3510T 

Geschwind, D., 553F, 2444F, 

2479T 

Geschwind, D. H., 2478W, 

2518T, 2551T, 2639F, 

2658W, 2779W, 3487T 

Geske, J., 605T 

Gesualdo, L., 845F 

Getts, B. C., 1142F 

Getz, G., 25, 368, 402 

Geuvadis Consortium, 567F, 

582W 

Gevers, D., 537F 

Geyer, C. R., 3488T 

Ghaderibarim, F., 2150F 

Ghaffarpour, M., 1056W*, 

1124F 

Ghamsari, L., 2660F 

Ghandour, H., 3700W 

Gharanei, S., 2767W* 

Gharani, N., 632T* 

Gharavi, A. G., 845F 

Gharib, S., 584W 

Gharib, S. A., 1284T, 1503T 

Gharizadeh, B., 398 

Ghassibe, M., 1640T*, 2002T 

Ghatreh, K., 2008T 

Gheno, T. C., 2424W, 

2626T, 2642F 

Ghezzi, A., 2095T 

Ghezzi, D., 699F 

Ghia, E., 395 

Ghiban, E., 2587T, 3316F 

Ghiggeri, G. M., 845F 

Ghimbovschi, S., 3249W 

Ghorab, K., 328 

Ghosh, A., 1413T* 

Ghosh, A. K., 2680W 

Ghosh, J., 971W 

Ghosh, K., 1572T 

Ghosh, M., 918T 

Ghosh, S., 1297F 

Ghoshal, U. C., 1137W 

Ghoumid, J., 843F*, 3157W, 

3241W 

Ghoussaini, M., 205, 206, 

209* 

Giacalone, G., 2095T 

Giacobini, M., 188 

Giacomini, K. M., 246 

Giambartolomei, C., 122, 

1621T* 

Gianfrancesco, F., 2916F 

Giannotta, S., 3415T 

GIANT Consortium, 108, 

1387F, 2074T, 2090F, 

2147F, 2210F 

Giardina, E., 2160W 

Giardine, B., 3545F* 

Gibb, A., 3440T 

Gibbens, B., 2645F 

Gibbon, S., 3327T 

Gibbons, P., 3331F 

Gibbons, R., 418W* 

Gibbs, J. R., 2148W, 2611T 

Gibbs, R., 121, 174, 183, 

349, 595F, 1520W, 

1585T, 1592T, 1599T, 

1854F, 2802F, 2880F, 

2934F, 3209W, 3597F 

Gibbs, R. A., 3, 244, 314, 

360, 648T, 1221W, 

1231T, 1735W, 1742W, 

1757W, 1761W, 2413T, 

2577W, 2798T, 2864T, 

2881W, 2883F, 2908W, 

3576W 

Gibbs, R. J., 564W 

Gibson, G., 31, 2779W 

Gibson, J., 531F, 2072F 

Gibson, Q., 602T 

Gibson, R., 2537F 

Gibson, R. L., 171 

Gibson, W., 2797W 

Giedd, J., 433F 

Giedraitis, V., 434W 

Gieger, C., 110, 190, 1942T, 

2086T, 2103W, 2160W, 

2175W, 2226W, 2568W 

Giffen, C., 1218W 

Gigarel, N., 72

Gigek, C. O., 1132T, 3421T, 

3503T 

Giger, T., 561F 

Gignoux, C., 3360T 

Gignoux, C. R., 158*, 1425T, 

3385F 

Gigot, N., 2716W, 2729T, 

2792T 

Gijselinck, I., 2815W 

Gil, A., 1968W, 2017T 

Gil, G. P., 426W, 2718F 

Gil, L., 3732W 

Gilad, Y., 2*, 1514W, 2031W, 

3251W 

Gilbert, D., 75* 

Gilbert, J., 2135F, 2637W, 

3706W 

Gilbert, J. R., 9, 341, 347, 

2378F, 2445W, 2572T, 

2583W*, 2586W, 2614T 

Gilbert-Dussardier, B., 77 

Gilbey, M., 1147T 

Gilboa, T., 2993T 

Gil-da-Silva-Lopes, V., 

1865F, 2270F 

Gil-da-Silva-Lopes, V. L., 

959W, 1903T 

Gileadi, O., 219 

Giles, G., 28, 205 

Giles, G. G., 1148F, 1213T, 

1214F 

Gilfillan, G. D., 3510T 

Gilfix, B. M., 673F 

Gilissen, C., 97, 100, 125, 

160, 214, 672T, 1749W* 

Gilissen, C. F. H. A., 1734W 

Gilkeson, G. S., 1662T, 

1979F, 2046W, 3371W 

Gill, D. F., 614T 

Gillanders, E., 1543F 

Gillanders, E. M., 211 

Gillani, N., 1377T, 1928F 

Gillani, N. B., 1316W 

Gillen, D., 1493W 

Gillessen-Kaesbach, G., 

204, 219, 2925F, 2958F 

Gilliam, D., 2805F* 

Gilliaux, M., 3098F 

Gillis, A. J. M., 1122W 

Gillis, J., 447F, 3568W 

Gillis, L., 79 

Gillis, T., 1964F 

Gillisen, C., 216 

Gillson, C., 1686T 

Gilman, R., 1119W 

Gilman, R. H., 3325F 

Gilmore, B. L., 2636F 

Gilmour, K. C., 1748W 

Gilsanz, V., 812F 

Gimelli, S., 67, 2937F 

Gimigliano, A., 2695W 

Gindlesperger, A., 3011T* 

Ginno, P., 552W 

Ginsburg, G. S., 147 

Ginty, D. D., 308 

Ginzinger, D., 256 

Gioia, J., 3717F 

Giordano, J. L., 3012T* 

Giordano, M., 1153T, 

2827W 


Giorgini, F., 2641T 

Giorgio, E., 550W* 

Giovannoni, G., 2015F 

Giovannucci Uzielli, M. L., 

3114F 

Girard, M., 522W, 936T, 

2386T, 3121W, 3166F 

Girard, S., 3268F, 3401W* 

Girard, S. L., 2558F, 2591F 

Giraud, S., 1212W 

Giri, N., 1196F 

Girimaji, S. C., 2776W 

Girirajan, S., 12, 14*, 98, 

2491T 

Girisha, K. M., 3173W 

Girling, A., 1257W 

Girodon, E., 572W, 1768W, 

1874F* 

Girodon, F., 2716W 

Giste, E., 255 

Giudicessi, J. R., 2885T 

Giuffre, A., 3669F, 3709F 

Giugliani, C., 1851F 

Giugliani, R., 685F*, 691F, 

747F, 772W, 879W, 

1851F, 2425T 

Giulianini, F., 51 

Giuliano, F., 124 

Giurdanella, M. C., 1712T 

Giurgea, I., 843F, 894T, 

3157W, 3241W 

Gjessing, H. K., 213 

Gladman, D., 154, 448W, 

1952F 

Glahn, D., 2061W 

Glahn, D. C., 1923W 

Glaser, A., 1612T 

Glaser, R. L., 3154F 

Glaser, T., 2926W 

Glasheen, C., 2114F, 2170T 

Glashoff, R. H., 3332W 

Glaspy, J. A., 136 

Glass, D., 44, 546W, 583F, 

1440T, 2143T 

Glass, I., 2789T, 2890W 

Glass, M., 727F 

Glassford, M., 1860F 

Glavač, D., 3381T, 3422T* 

Glazer, N. L., 2080T 

Gleeson, J., 267 

Gleeson, J. G., 3581F 

Glenn, G., 132 

Glenn, S. B., 529F, 1979F, 

2188T 

Glentis, S., 1228T 

Glessner, J., 2229W, 2492F, 

3546W* 

Glessner, J. T., 1996T, 

2121W, 2389T 

Gliedt, T., 3664W 

GliomaScan Consortium, 

1372F 

Global Lipids Genetics 


Glodzik, D., 1481W* 

Gloeckner, C. J., 86 

Glogowski, E., 1841W 

Glorieux, F. H., 3169W 

Glotzbach, C., 934T 

Glover, T., 2879T 


Glover, T. W., Session 22, 

339 

Glunk, V., 3536W 

Glusman, G., 195 

Gnirke, A., 322, 1725W 

Go, M., 1657T 

Go, M. J., 49 

Goate, A., 2228F, 2582F, 

2598W, 2650T 

Goate, A. M., 340, 342, 343 

Gobert, D., 56 

Gocan, H., 849F 

Gockel, I., 2088W 

Godard, A. L. B., 2655W 

Godbole, K., 911W 

Goddard, G. H. M., 1329T 

Goddard, K. A. B., 1869F* 

Goddard, M., 1360F 

Goddard, M. E., 108, 

1331W 

Godefroy, O., 3117W 

Godeiro, C., 2642F 

Godfraind, C., 1611T 

Godfraind, P.-L., 1015T 

Godfrey, M., 1856F* 

Godi, M., 2827W 

Godley, L. A., 3472T 

Godson, C., 2307W 

Goecks, J., 3547F* 

Goel, N., 2592W 

Goel, P., 1715T 

Goeman, J. J., 542W, 

1436W 

Goes, F. S., 2180F, 2305T 

Goetz, M., 1247F 

Goetzman, E., 657F 

Goff, C. L., 3167W 

Goff, D. J., 1051T 

Goffrini, P., 2810T 

Goin-Kochel, R., 759W* 

Goin-Kochel, R. P., 299, 

2439W 

Goizet, C., 716T*, 2674W 

Goj, V., 845F 

Gokcumen, O., 3251W, 

3310F 

Goker-Alpan, O., 693F, 

713F, 768W*, 769W 

Goksen, D., 3206F 

Golalipour, M. G., 1096T 

Golan, D., 1797W, 3711F 

Golbus, J. R., 1614T, 1683T 

Gold, B., 1242W 

Gold, J. A., 3068F* 

Gold, K. F., 2452T 

Gold, N. B., 326 

Goldberg, A., 2577W, 

3351T* 

Goldberg, R., 3 

Goldbladtt, M., 1667T 

Goldblatt, J., 1216T 

Golden, D. M., 968T 

Goldenberg, A., 390, 1551T, 

2203T* 

Goldgar, D., 1492F 

Goldgar, D. E., 1067F, 

1213T 

Goldin, L. R., 30*, 2191T 

Goldlust, I. S., 66* 

Goldman, D., 2574W 

Goldmann, O., 2251T 

Goldmuntz, E., 65 

Goldschmeding, R., 2848W 

Goldschmidt-Clermont, P., 

1644T 

Goldsmith, C. L., 1775W* 

Goldstein, A., 330, 1076F, 

1517W 

Goldstein, A. M., 211, 

1010F, 1218W* 

Goldstein, D., 53, 235 

Goldstein, D. B., 203, 

2050T, 2335T, 2455T, 

2552F, 2875W 

Goldstein, J., 2618F, 3644W 

Goldstein, J. I., 290* 

Goldstein, L. E., 2528F 

Goldstein, P., 3529F 

Goldwaser, T., 1793W*, 

3022T 

Golinker, E., 3202F 

Golka, K., 1335T 

Gollub, J., 493F, 1142F 

Golmard, L., 1205F* 

Golovleva, I., 1024T 

Golozar, A., 1076F* 

Golshani, R., 969W 

Golub, M. S., 2783T 

Golzio, C., 98, 2458T*, 

3296W 

Gombojav, B., 1654T* 

Gomes, C., 913W 

Gomes, V., 3364F, 3402T 

Gomez, H. T., 926T 

Gomez, L., 3509T 

Gomez, R., 3373F, 3377W 

Gómez-Almaguer, D., 1030T 

Gómez-Vázquez, M. J., 48, 

3255T 

Gomy, I., 3250F 

Goncalves, F. T., 2706F* 

Goncalves, J., 2982T 

Gonçalves, V., 628T 

Gonçalves, V. F., 2376W* 

Goncalves-Dornelas, H., 

3107W, 3110F 

Goncalves Serra, E., 45 

Gonder, M. K., 3306T 

Gondim, C. S. E., 747F 

Gong, F., 909W 

Gong, H., 501F 

Gong, L., 633T*, 635T 

Gong, T.-W., 1878W 

Gong, Y., 2210F 

Gong, Z., 1369F 

Gonggalanzi, G., 3317W 

Gonik, M., 2483F 

Gonsales, M., 2393F* 

Gonsales, M. C., 2233T 

Gonsalves, S., 358, 1690T 

Gonsalves, S. G., 1696T 

Gonzaga-Jauregui, C., 360, 

485F, 2798T* 

Gonzaga-Jauregui, C. G., 

2881W, 2883F, 2908W 

Gonzales, M., 77, 3129W 

Gonzalez, A. J., 1627T 

González, C. A., 987W 

Gonzalez, D., 362, 1750W 

Gonzalez, G., 3425T 



Gonzalez, J., 703F, 2940F 

Gonzalez, K., 2907F 

Gonzalez, K. D., 2698W, 

2895F, 3065W* 

Gonzalez, M., 57, 1681T, 

2615F*, 2820F, 3364F 

Gonzaléz, M., 3402T 

Gonzalez, P., 521F, 3521T 

Gonzalez, R., 3327T 

González, R., 2296T 

Gonzalez, S., 2495F 

González-Andrade, F., 

3364F, 3402T 

Gonzalez Berjon, J., 893W 

Gonzalez Burchard, E., 

1075T, 3360T, 3380W 

Gonzalez-Herrera, L., 2272T* 

González-Llano, O., 1030T 

González-López, L., 2363F 

González-Mercado, A., 

2363F*, 3188F 

González-Mercado, M. G., 

3188F* 

Gonzalez-Neira, A., 206 

Gonzaludo, N., 620T* 

Good, B. M., 3584W 

Goodall, A. H., 3453T 

Goodarzi, M. O., 1916F*, 

2080T 

Goode, E., 139 

Goode, E. L., 210, 1238F, 

3451T 

Goode, M., 2544W 

Goodier, J., 336* 

Goodloe, R., 1316W, 

1377T*, 1671T, 2041T 

Goodman, N., 2643W 

Goodrich, J., 537F 

Goodrich, J. K., 2029T* 

Goodrich, M., 3465T 

Goodridge, D., 3713F 

Goodship, J. A., 219 

Goodwin, A., 3242F* 

Goodwin, E. H., 948T 

Goodwin, L., 843F 

Goossens, M., 572W, 843F, 

894T, 1768W, 1796W, 

2727F, 3157W, 3241W 

Gopalakrishnan, R., 529F, 

2188T 

Gopie, J., 1788W 

Göraler, S., 2107T 

Gordeuk, V., 3297T 

Gordish-Dressman, H., 

2452T 

Gordon, A., 71 

Gordon, A. S., 244*, 301 

Gordon, C., 126*, 3172F 

Gordon, D., 1338T, 1358W, 

1359T 

Gordon, E. S., 632T 

Gordon, L., 245 

Gordon, L. B., 2879T 

Gordon, L. N., 606T* 

Gordon, P., 3141W, 3665F 

Gordon, S. D., 2133W 

Gordon-Larsen, P., 1467T, 

1913F 

Gorelenkov, V., 1762W 

Gorelik, L., 2561F 


Gorin, M. B., 1963T 

Goring, H. H. H., 533F, 

1406W, 2061W 

Göring, H. H. H., 1280W, 

1282F*, 1458T, 2651F 

Goris, A., 2086T 

Gorkin, D. U., 258* 

Gorman, K., 2234F* 

Gormley, P., 1325W 

Gornall, H., 2452T 

Gorsic, L. K., 614T 

Gorvel, J. P., 1949F 

Gosendi, M. E., 129 

Gospe, S. M., Jr., 167 

Goss, G., 135 

GoT2D Consortium, 172, 

173, 1519F, 2324F 

GoT2D Investigators, 

1373W, 1389T 

Gotlib, J. R., 1017W 

Goto, J., 52, 233, 2409W, 

2569T 

Goto, S., 52 

Goto, Y., 234, 1722W 

Gotoh, L., 234 

Gotta, L., 2520W 

Gottipati, S., 183 

Gottlieb, B., 398* 

Gottschalk, W., 2465F 

Götz, A., 327 

Goubran-Botros, H., 259 

Goudefroye, G., 77 

Goudet, P., 1293T 

Goudy, S., 2762T 

Gougerot-Pocidalo, M.-A., 

2716W 

Gould, D. B., 1689T, 2684T 

Gould, E., 3724W 

Goulet, J.-P., 2266T, 3268F, 

3341W 

Goumy, C., 894T 

Gourraud, P., 2113T, 3330T* 

Gourraud, P.-A., 2039F, 

2049W, 2350T 

Gouttard, S., 2529W 

Gouveia, M., 3325F 

Gouya, L., 56 

Govi, M., 1776W 

Govil, M., 1315F*, 2178W 

Gowda, H., 3316F 

Gowher, A., 329 

Gowrisankar, S., 1754W 

Goyal, S., 1891T, 2730F*, 

3696W 

Goyette, P., 1678T, 2319W* 

Graber, E., 3033T 

Grabowska, E., 2587T 

Grabowski, G., 789W 

Grabowski, G. A., 161, 

690T, 736T, 749F 

Grabs, R., 5 

Grace, N. M., 1625T 

Gracia, G., 1876F 

Grad, I., 67 

Grad, R., 1852F 

Grady, W., 144 

Graetz, C., 2058W 

Graf, E., 699F, 2557T, 

2567F, 2595W, 2917W, 

2922F 

Graf, J., 200 

Grafe, I., 2854W 

Graff, M., 1467T, 1913F 

Graff-Radford, N., 343 

Grafodatskaya, D., 3420T, 

3456T*, 3489T 

Graham, B., 661F, 676T*, 

2395T, 2942T 

Graham, B. H., 667F 

Graham, J. M., Jr., 3185W 

Graham, M., 3331F 

Graham, R., 306, 342 

Graham, R. R., 2091W 

Grahn, R. A., 3252T 

Grallert, H., 2116T, 2595W, 

3536W 

Granberg, C., 2845W 

Grandchamp, B., 29, 56, 

1062W 

Granell, R., 2167T 

Grangeiro, C. H. P., 941W, 

2813T 

Grant, G., 290, 1919F 

Grant, R., 118, 3142F 

Grant, R. W., 2140T 

Grant, S., 2067W, 2121W, 

2229W, 2252F 

Grant, S. F. A., 812F, 

1307W*, 1915T, 1997F 

Grarup, N., 2311T, 2317T*, 

2347T 

Grasshoff, U., 3109W 

Gratacòs, M., 2303F, 2593T 

Grattau, Y., 84 

Graubert, T., 1203W 

Graubert, T. A., 301, 1408F 

Graul-Neumann, L., 2760F 

Gravel, S., 3352F*, 3360T, 

3361F, 3380W, 3390T, 

3563F 

Graves, T., 375, 464W, 465F 

Graves, T. A., 3296W 

Gravitt, P., 1076F 

Gray, J. J., 308 

Gray, J. W., 984W 

Greally, M. T., 100 

Greco, D., 100, 1265F, 

3631F* 

Greco, F., 1776W 

Greely, H., Session 20 

Green, D., 3688W 

Green, E., 3306T 

Green, J., 1066T, 1084T 

Green, M. R., 1042T 

Green, R. C., Session 

73, 317, 343, 1781W, 

1825W*, 2488T, 3635F 

Green, T., 1454W 

Greenawalt, D., 1624T 

Greenberg, K., 1859F 

Greenberg, M. E., 452W, 

2613W 

Greenberg, S. M., 1689T 

Greenblatt, M. S., Session 4 

Greene, A. M., 1269W 

Greene, C. S., 1501F 

Greene, M. H., 210, 213 

Green Snyder, L., 2439W 

Greenspan, B., 3377W 

Greenspan, E., 3377W 

Greenwood, C., 1411F 

Greenwood, J., 1791W* 

Greer, D., 480W 

Greer, S. N., 1046F 

Greer, T., 876T*, 3154F* 

Greger, V., 1729W, 3640W, 

3680W 

Gregersen, N., 657F 

Gregersen, P., 461F 

Gregersen, P. K., 306 

Gregor, A., 2666T 

Gregory, B., 1642T, 3551F 

Gregory, B. L., 500W* 

Gregory, P. D., 255, 803W 

Gregory, S., 1919F, 3541F 

Gregory, S. G., 1444F, 

1636T, 2340W, 2454W* 

Gregoski, M., 1715T 

Greisenegger, S., 1603T 

Grenier, J.-C., 31, 2266T, 

3268F, 3341W 

Grenier, J. C., 3260W 

Grether, J., 7 

Grether, P., 875W, 928T, 

956T, 960T 

Gretz, N., 1612T 

Gribaa, M., 1751W, 2744T 

Gribaldo, L., 1877F 

Gribble, S., 101, 291 

Grice, D. M., 916T 

Griebel, T., 567F, 582W 

Griesi Oliveira, K., 2414F* 

Griffen, C., 1010F 

Griffin, H., 751F 

Griffith, S., 3644W, 3716W, 

3731F 

Griffiths, C. E. M., 154 

Griffiths, L. R., 1042T, 

1912T*, 2916F 

Grigorenko, E., 334 

Grill, D. E., 1426F 

Grillo, E., 2604W 

Grimaldi, L., 2095T 

Grimholt, R. M., 643T 

Grinberg, L. T., 919W 

Grindle, S., 1665T 

Grioni, S., 1712T 

Gripp, K. W., 124 

Grisart, B., 3098F 

Griskevicius, L., 1208F 

Griswold, A. J., 2445W, 

2572T*, 2614T 

Griswold, B., 1663T 

Griswold, B. F., 3231W 

Grochowski, C., 2316W 

Grocock, R., 1238F, 3663F 

Grocock, R. J., 366 

Grody, W. W., 130, 315 

Groen, J. L., 200 

Groen-Blokhuis, M., 2097W 

Groenendaal, F., 3164F 

Groeneveld, M. P., 33 

Groessner-Schreiber, B., 

2058W 

Grof, P., 2338T 

Groffen, A., 98 

Groffen, S., 3200F 

Grohé, C., 2103W 

Gronberg, H., 205, 1148F 

Grønskov, K., 363*

Groom, A., 3455T 

Groop, L., 47, 2187W 

Groop, P.-H., 2307W 

Gropman, A., 239 

Gropman, A. L., 330 

Gros, P., 649T 

Gross, M. D., 2337W 

Gross, N., 2568W 

Gross, V., 2447F 

Grossfeld, P., 870T 

Grossman, R., 176, 1513F 

Grossman, T. R., 804W* 

Grossse-Wortmann, L., 

3186F 

Groth, J., 3242F 

Grotmol, T., 991T 

Grove, M. L., 1445W* 

Grover, M., 3209W 

Groves, A. K., 840F 

Grozeva, D., 2576F 

GRS Team, 983F 

Grubb, J., 786W 

Grubb, R., 1012T 

Grubert, F., 371, 551F*, 

3411W, 3505T 

Gruen, J. R., 1973F, 2010W 

Grumbt, B., 3539F 

Grummel, V., 2086T 

Grundberg, E., 44, 583F, 

3441T* 

Grunenwald, H., 3697F 

Grünewald, A., 200, 204, 

672T 

Grunewald, J., 2103W 

Grünfeld, T., 3614W 

Grunstad, J., 176, 1513F 

Grydholt, J., 3641F, 3662W 

Gschwind, A., 415F 

GTEx Consortium, 368 

Gu, C. C., 1468F 

Gu, D., 116*, 2259W 

Gu, J., 2721F 

Gu, M., 2819T* 

Gu, Q., 3168F 

Gu, S., 3491T* 

Gu, Z., 3309T 

Guadalupe, M., 3669F 

Guan, M. X., 1628T* 

Guan, T., 457F 

Guan, W., 1428T*, 1665T 

Guan, Y., 1482T* 

Guan, Z., 457F, 2623T* 

Guarrera, S., 1153T, 1712T 

Guaschino, C., 2095T 

Guaschino, R., 1153T 

Guauque-Olarte, S., 1655T* 

Gucev, Z., 33, 845F 

Guchelaar, H. J., 243 

Gudjonsson, J. E., 154 

Guedalia, J., 2993T 

Guedet, M. M., 207 

Guedj, F., 765W* 

Guekunst, K., 1251W 

Guella, I., 2459F*, 2469W, 

3587F 

Guergueltcheva, V., 201, 

2948T 

Guerra-Junior, G., 478W, 

479F 

Guerreiro, J. F., 3292F 


Guerreiro, M., 2876T 

Guerreiro, M. M., 2393F 

Guerrini, R., 889W 

Guethlein, L. A., 3710W 

Guettouche, T., 2185T, 

3706W* 

Guevara-Aguirre, J., 2706F 

Guffanti, G., 435F* 

Guha, N., 3676W* 

Guha, S., 264 

Gui, H., 21 

Guia-Padilla, M. T., 1805W 

Guiblet, W., 3254W*, 3380W 

Guidobono, R., 685F 

Guidugli, L., 1219T* 

Guignoux, C. R., 3380W 

Guigo, R., 368, 567F, 582W 

Guigò, R., 506W 

Guild, C. S., 272 

Guilherme, R. S., 3045W 

Guillaume, P., 619T 

Guillemyn, B., 2225F 

Guillen Ahlers, H., 1269W* 

Guilmatre, A., 469F* 

Guimiot, F., 77 

Guiochon-Mantel, A., 894T 

Guion-Almeida, M., 2673F 

Guion-Almeida, M. L., 813F, 

2746W 

Guipponi, M., 561F, 2685F, 

2877F, 2937F 

Guitart, M., 2940F 

Gujral, M., 480W 

Gül, E., 3132F 

Gulab, S., 167 

Gullerud, R. E., 1351F 

Gulsuner, S., 287*, 2600F, 

2924T 

Gulsvik, A., 2057F, 2249F 

Gulzar, Z., 1167W 

Gun, I., 1801W 

Gunawardena, S., 1214F 

Gunawardena, S. R., 

1206W* 

Gunderson, K., 3695F 

Gunderson, K. L., 3710W 

Gunduz, C., 1025F, 1106F, 

1164W, 1166F, 1178F 

Gündüz, C., 1172F* 

Gunel, M., 1201T, 2924T 

Günel, M., 3132F 

Gunning, P. W., 410, 2662W, 

2796F 

Gunter, C., Session 81 

Guo, D., 1789W 

Guo, D. C., 1743W 

Guo, D. E., 589F 

Guo, G., 3553F 

Guo, H., 453F, 2251T, 

3139W 

Guo, J., 457F, 1974W*, 

2623T 

Guo, L., 2721F 

Guo, M., 3168F* 

Guo, S., 1681T, 1957T 

Guo, S. C., 3416T* 

Guo, T., 1494T, 1658T 

Guo, W., 1559W*, 1659T, 

2819T 

Guo, X., 1916F 


Guo, Y., 1004F, 1606T*, 

1659T, 2121W, 3660W*, 

3682W, 3724W* 

Guo, Y. W., 1110W 

Gupta, D., 2739F* 

Gupta, K. K., 2293T 

Gupta, M., 607T* 

Gupta, N., 918T, 1490W, 

1677T 

Gupta, S., 2803W 

Gupta, V., 2739F, 3455T 

Gupta Hinch, A., 3360T 

Gur, R. C., 2382W, 2514W, 

2546F, 2589W, 2651F 

Gur, R. E., 2382W, 2514W, 

2546F, 2589W, 2651F 

Guralnik, J. M., 2148W 

Guran, S., 1136F, 2881W 

Gurdasani, D., 1507F*, 

3412T 

Gurkan, A. M., 2329T 

Gurnett, C. A., 220, 2860W 

Guru, K., 3428T 

Gurusiddappa, S., 134 

Guruvadoo, L., 3557F 

Guryev, V., 459F, 3608W 

Gus, R., 879W 

Guse, K., 795W 

Gusella, J., 2562W 

Gusella, J. F., 68, 70, 82, 

103, 554W, 1964F, 

2643W 

Gusella, J. S., 2458T 

Gusev, A., 89, 350, 1320T, 

1577W* 

Gusmao, L., 3364F 

Gusmão, L., 3402T 

Gustaffsson, S., 108 

Gustafsson, M., 3427T 

Gustafsson, S., 117, 

2070W*, 2076W, 2090F, 

2241W 

Gustavsson, P., 3245W 

Gut, I., 54, 567F, 582W, 

2303F, 2326T 

Gut, M., 2303F, 2326T 

Gutenkunst, R. N., 3354T 

Guthery, S., 195 

Guthridge, J. M., 549F, 

566W 

Gutiérrez, A., 1111T, 1127F 

Gutierrez, D., 3125W 

Gutíerrez, I. A., 1077W* 

Gutiérrez, J., 2365T 

Gutierrez, K. S., 2106W* 

Gutiérrez, O., 2365T 

Gutierrez, S., 1798F 

Gutierrez-Achury, J., 155*, 

1330F 

Gutiérrez-Aguirre, H., 1030T 

Gutierrez-Arcelus, M., 415F, 

561F 

Gutin, N., 1021T 

Gutman, L., 2411F 

Guttman, M., 322 

Guttmann, A., 142 

Guxens, M., 2097W 

Guy, C., 531F, 1212W 

Guy, T., 400 

Guyant-Maréchal, L., 345 

Guymer, R., 1911W 

Guyot, M. C., 850F 

Guzeldemir, E., 2058W 

Guzman, E., 3695F 

Guzman, M., 695F, 924T 

Guzman, M. A., 785W 

Guzman, M. L., 1658T, 

2065T 

Gwirtzman, H. E., 2637W 

Gyapay, G., 2820F 

Gylfe, A., 997T 

Gyllensten, U., 2366F 

Gymrek, M., 333*, 1797W 

H 

Ha, T., 493F 

Haab, B. B., 1186T 

Haack, T. B., 699F, 2917W* 

Haaf, T., 849F, 3266W 

Haagmans, M., 1616T 

Haagmans, M. A., 197, 

681F 

Haan, E. A., 978T 

Haas, B. E., 2256W 

Haas, J., 2143T 

Haas, R., 534W 

Haase, V. G., 2434T 

Habashi, J. P., 240* 

Habegger, L., 41, 280, 551F, 

3251W 

Habekost, C., 2825T 

Haber, B. A., 2316W 

Haber, M., 3349F, 3387T* 

Haberberger, B., 699F 

Haberberger, B. M., 782W* 

Haberkorn, M. J., 1649T 

Habibian, R., 962T 

Habibul, A., 1638T 

Hacia, J., 722T 

Hack, L. M., 2504F* 

Hacker, D., 415F 

Hackett, N. R., 2933T, 

3399W 

Hackmann, K., 1236W, 

3224F 

Hacohen, N., 528W 

Haddad, G., 3307F 

Haddad, M., 791W* 

Haddad, M. R., 2457W 

Hadjidekova, S., 3477T 

Hadjidekova, S. P., 923W* 

Hadjixenofontos, A., 270, 

2039F*, 2049W 

Hadj-Rabia, S., 128, 3140F* 

Hadley, D., 845F, 2067W*, 

2492F, 2872W 

Hadzhidekova, S., 3481T 

HaemGen Consortium, 383 

HaemGen RBC Consortium, 

110 

Haerian, B., 1113W* 

Haerian, M., 1113W 

Haertter, S., 617T 

Haessler, J., 1925F 

Haga, S. B., 147* 

Hageman, G. S., Session 7 

Hagenah, J., 200 

Hager, J., 1640T, 2278T* 



Hagerman, P., 477F* 

Hagerman, P. J., 2632T, 

2633F, 2634W 

Hagerman, R., 770W* 

Hagg, S., 2175W 

Hägg, S., 119, 1308T, 

2074T*, 2076W, 2137T, 

2358W 

Haggerty, A. A., 968T 

Haghighatfard, A., 1718W* 

Haghighi, A., 2787F*, 2787F, 

2832F, 2856F, 3163W 

Haghighi-Kakhki, H., 

2832F*, 2856F 

Hagiwara, M., 781W 

Hagnefelt, B., 2902W 

Hagos, S., 2743W 

Hahn, A., 2948T 

Hahn, A. F., 201, 3215W 

Hahn, A. F. G., 2779W 

Hahn, S., 688T, 1787W, 

1853F*, 2330F 

Hahn, S. E., 1834F 

Haider, M., 2267F* 

Haigis, R., 1176W, 3686W, 

3695F 

Haile, R. W., 141, 1067F, 

1079F, 1206W 

Hailing, J., 2037W 

Haiman, C., 205, 356, 

1324F, 1608T, 2131T 

Haiman, C. A., 48, 1148F, 

1150T, 2042F, 2202W 

Haimes, E., 1803W 

Hainaut, P., 1102T 

Haines, J., 1566T, 2041T, 

2135F 

Haines, J. L., 9, 15, 270, 

343, 344, 347, 1286W, 

1447F, 1476T, 1489F, 

1571W, 1671T, 1887W, 

2028W, 2154W, 2240F, 

2263T, 2299T, 2318F, 

2445W, 2498F, 2508W, 

2572T, 2583W, 2586W, 

2614T, 2637W, 3275W, 

3335W 

Hains, D., 450W, 458W 

Hajianpour, A., 962T 

Hajjar, R. J., 1698T 

Hajkova, Z., 752T 

Hakeman, M., 419F 

Hakenberg, J., 242, 3580W 

Hakim, S., 1691T 

Hakker, I., 2587T 

Hakonarson, H., 319, 812F, 

845F, 1307W, 1606T, 

1915T, 1996T, 1997F, 

2067W, 2121W, 2229W, 

2252F, 2389T, 2492F, 

2514W, 2546F, 2592W, 

2722W, 2785W, 2856F, 

2872W, 2892F, 2904F, 

3546W, 3561F, 3573F 

Hakonarson, H. H., 1992W, 

2443T 

Halbach, P., 2830W 

Halban, P. A., 556W 

Halbritter, J., 406, 2850F 

Halder, I., 1647T, 2083T* 


Haldin, C., 520W 

Hale, P., 2136W 

Haley, C., 1383T 

Haley, K., 811F 

Halim, S., 1011W 

Halime, S., 1402F 

Hall, A. L., 2403W 

Hall, I. M., 436W* 

Hall, J., 2257T* 

Hall, J. L., 1665T* 

Hall, K., 343, 3663F, 

3694W* 

Hall, K. P., 366 

Hall, M. A., 1316W* 

Hall, P., 206, 208, 1150T, 

2108F, 2155T 

Hall, R. P., 906T 

Hall, S., 642T 

Hallam, S., 1729W 

Haller, G., 2598W* 

Haller, T., 1792W, 3353W* 

Hallgrímsdóttir, I., 2311T 

Hallgrimsson, B., 4 

Halligan, B., 587F 

Halligan, G., 924T 

Hallmayer, J., 2479T 

Halme, L., 2023T 

Halperin, E., 180, 3360T, 

3623F* 

Halprein, E., 1797W 

Halushka, M. K., 305 

Halvardson, J., 3728W 

Hamada, H., 1631T 

Hämäläinen, E., 2348F, 

2898F 

Hamamoto, K., 1631T 

Hamamy, H., 2937F 

Hambleton, I. R., 1906T 

Hamdan, F., 2306F 

Hamdan, F. F., 2692W, 

2790F 

Hamdy, F., 1011W 

Hamdy, F. C., 1148F 

Hamel, B. C., 125 

Hamel, B. C. J., 102 

Hamel, C., 390, 2679F 

Hamel, N., 1262F 

Hamet, P., 2994T 

Hamid, M., 679F*, 2714T 

Hamidovic, A., 2269T 

Hamilton, C. M., 1566T* 

Hamilton, K., 2586W*, 

2637W 

Hamilton, K. L., 344, 2498F, 

2583W 

Hamilton, R. M., 1678T 

Hamilton, S., 491F 

Hamilton, S. P., 2517W 

Hamman, R. F., 1672T, 

1673T 

Hammann, A., 2716W 

Hammarström, L., 2091W 

Hammel, P., 1062W 

Hammer, M., 285 

Hammer, M. F., 2788W, 

3354T, 3377W, 3389W 

Hammer, R. R., 1849W 

Hämmerle, J. M., 2861T 

Hammerø, M., 3510T 

Hammet, F., 1213T 

Hammond, C. J., 335, 

2068T, 2138F 

Hammond, J. A., 1566T 

Hammond, P., 218, 3088F 

Hamolsky, D., 1965W 

Hamosh, A., 227* 

Hampe, J., 580W* 

Hampel, H., 1173W* 

Hampson, S. C., 2800W 

Hampton, O., 3649F 

Hampton, T., 1698T 

Hamren, S., 2347T 

Hamsten, A., 115, 1651T 

Hamza, S., 507F 

Han, B., 39, 1337W, 1341T, 

1480F*, 1657T, 3462T, 

3555F, 3623F 

Han, B. J., 846F 

Han, E., 1535W* 

Han, J., 984W, 3461T 

Han, J. C., 2702T 

Han, K., 947W 

Han, K.-H., 2130W 

Han, L., 278, 1488T* 

Han, M., 2566T, 3223W 

Han, S., 1012T, 1243T*, 

2497T* 

Han, S. S., 1378F* 

Han, X., 2623T 

Han, X.-Y., 1218W 

Han, Y., 1757W, 2934F, 

3008T 

Han, Y. Y., 3449T 

Hanchard, N. A., 1646T, 

2158T* 

Hancock, D., 2114F 

Hancock, D. B., 1566T, 

2170T* 

Handberg, H., 3641F, 

3662W 

Hande, M. P., 3034T 

Handel, A., 2015F* 

Handsaker, R., 322 

Handsaker, R. E., 284, 

437F*, 1519F 

Hanein, S., 324, 390, 522W 

Haney, M., 334, 579F, 

3658W 

Hanis, C. L., 2192F 

Hanish, A. E., 2702T 

Hankerd, M., 885W 

Hankins, J. S., 2331W 

Hankinson, J., 2211W 

Hankinson, S., 2165F 

Hanks, S., 1211F 

Hanna, C. W., 2977T, 2986T* 

Hanna, G., 2430W* 

Hanna, G. L., 3447T 

Hanna, M., 1912T, 2581T 

Hanna, N., 56 

Hannachi, H., 944T 

Hannan, G. N., 916T 

Hannan, M., 2052W 

Hannequin, D., 345 

Hannick, L. I., 3332W 

Hänninen, S., 541F 

Hanscom, C., 68, 70 

Hansen, L., 363, 2817F 

Hansen, M., 1445W 

Hansen, M. R., 2301W 

Hansen, N., 999W, 1159T, 

1515T 

Hansen, N. F., 1690T 

Hansen, R., 2491T 

Hansen, R. S., 255 

Hansen, T., 1624T, 2311T, 

2317T, 2347T 

Hansikova, H., 752T 

Hanson, E., 299, 2439W 

Hanson, R., 584W, 1300F, 

2038T* 

Hanson, R. L., 1953W, 

2018F, 2124W 

Hansson, O., 47, 2187W 

Hantaï, D., 328 

Hantash, F. M., 2260T 

Hao, H., 822F* 

Hao, K., 1369F*, 1624T, 

2928F 

Hao, L., 1304W, 3345T 

Hao, T., 2660F 

Hao, Y., 116 

Happe, S., 3459T, 3659F, 

3669F, 3709F 

Hara, K., 2071T* 

Hara, T., 468W* 

Harafuji, N., 2961F 

Harakalova, M., 217, 672T, 

2886F 

Harari, O., 340, 2228F* 

Harbin, S., 2430W 

Harbo, H., 2113T 

Harbord, R. M., 1626T 

Hardcastle, A. J., 3212F 

Hardeman, E. C., 410, 

2662W, 2796F 

Harden, A., 940T 

Hardie, R., 3332W 

Hardin, J., 75 

Hardin, M., 2057F* 

Harding, C. O., 774W 

Harding, S. P., 2072F 

Hardison, M., 314, 1742W 

Hardison, M. T., 677F* 

Hardison, R. C., 3545F 

Hardwick, J., 1369F 

Hardwick, R., 438W 

Hardy, J., 374, 564W, 2648F 

Hardy, O., 3659F 

Hardy, R., 2282F 

Hare, A., 2381F*, 2523W 

Harewood, L., 62, 299 

Hariharan, M., 551F 

Häring, H., 1624T 

Harismendy, O., 395, 1051T 

Haritunians, T., 1445W, 

1916F, 2153F 

Harkin, T. T., 1068W 

Harkins, T., 400, 494W, 

1242W 

Harkins, T. T., 186, 1244F*, 

2301W 

Härkönen, J., 496W 

Harks, I., 2058W 

Harlan, M., 1275W 

Harlan, W. R., 1566T 

Harley, J., 1901F 

Harley, J. B., 529F, 1979F, 

2046W, 2084F, 2188T, 

3371W

Harley, K., 3458T 

Härmä, M., 2462F 

Harman, E., 1166F 

Harmanci, A., 2444F 

Harney, L., 132 

Haroutunian, V., 3471T 

Harper, J. I., 2102F 

Harper, S. M., 1756W 

Harper, U., 1302T 

Harries, L. W., 2148W 

Harrington, E., 483F, 

2565W 

Harrington, E. D., 3617F* 

Harrington, P., 139 

Harris, A., 509F, 3719F 

Harris, C., 2325W* 

Harris, D. J., 82 

Harris, E., 630T 

Harris, H. R., 2077T 

Harris, J., 33, 503F 

Harris, J. R., 434W, 3510T 

Harris, K., 184 

Harris, K. M., 1467T 

Harris, M., 969W 

Harris, P. C., 1909T 

Harris, R., 3545F 

Harris, T., 1338T, 2080T, 

2561F 

Harris, T. B., 109, 2116T, 

2145W, 2275T 

Harrison, B. W., 1821W 

Harrison, C., 32 

Harrison, C. J., 1024T 

Harrison, L., 3494T 

Harrison, S., 2845W, 2846T* 

Harroche, A., 915W 

Harrow, I., 503F 

Harrow, J., 506W 

Harrow, J. L., 367 

Harry, B., 315 

Hart, D. J., 2292W 

Hart, E., 2098T 

Hart, P. S., 322 

Hart, R. K., 3548W* 

Hart, R. P., 2433W 

Hart, S., 1219T 

Hartge, P., 1306F, 1372F, 

1413T 

Hartikainen, J. M., 1114T*, 

1125W 

Hartl, C., 172, 288 

Hartley, J., 954T 

Hartley, J. N., 2422T 

Hartman, T. J., 1107W 

Hartmann, H., 756W 

Hartmann, L. C., 1238F 

Hartmannova, H., 752T 

Hartsfield, J., 2243F* 

Hartsfield Jr., J., 1147T 

Hartshorne, C., 145, 1810F 

Hartshorne, T., 1146W* 

Haruki, H., 2823F 

Harvard, C., 491F*, 517F 

Harvey, E., 3156F 

Harvey, H. S., 1849W 

Harvey, I., 1065W 

Harvey, K. A., 2155T 

Har-Zahav, A., 105 

Hasan, Q., 1234T, 1893W 

Hasegawa, A., 3565F 


Hasegawa, I., 1321F 

Hasegawa, J., 2507F 

Hashemzadeh, M., 1143W, 

1596T, 1739W, 2008T, 

2013W 

Hashemzadeh Chaleshtori, 

M., 1421W, 2952F 

Hashiguchi, A., 2418W, 

2601W, 2607W*, 2616W, 

2823F 

Hashimoto, K., 627T, 963W 

Hashimoto, S., 456W, 912T 

Hashimoto, T., 2559W 

Hashimoto, Y., 2371T 

Hashmi, A., 8 

Haskins, M., 1081T 

Haslag-Minoff, J., 1210T 

Hasler, R., 582W 

Häsler, R., 567F 

Haslett, L. J., 162 

Haslett, P., 714T, 801W 

Hassan, A., 2408F 

Hassan, B., 133 

Hassanali, N., 44 

Hassed, S., 2834T 

Hassell, K., 725F 

Hassnan, Z., 2743W 

Hassold, T., 250 

Hastie, N., 1383T 

Hastie, N. D., 2366F 

Hastings, P. J., 337 

Hastings, R., 1874F 

Hata, A., 1631T 

Hata, K., 3499T 

Hatai, Y., 3091W 

Hatamnejadian, N., 1961F, 

1962W, 2964F 

Hatamochi, A., 3230F 

Hattersley, A. T., 2704W, 

3494T 

Hattori, N., 1730W, 2559W, 

2619W, 3134F, 3221W 

Hattori, S., 2647T 

Hatzimanolis, A., 2573F* 

Hatzlhofer, B. L. D., 2718F 

Hauck, S., 3536W 

Haudenschild, C., 369, 

1249T, 2372F 

Hauenstein, N., 2086T 

Haug, K. B. F., 643T 

Haugarvoll, K., 2451W* 

Hauge, C., 921W 

Haugen, E., 3459T 

Haugen, T. B., 991T 

Haughey, N. J., 658T 

Haukanes, B. I., 2451W 

Haukkala, A., 1835W 

Hauner, H., 3536W 

Haupt, B., 786W 

Hauptschein, R., 1369F 

Hause, R. J., Jr., 614T 

Hauser, E., 3 

Hauser, E. R., 1444F, 1594T, 

1636T 

Hauser, M., 3, 386, 531F, 

2135F 

Hauser, M. A., 1887W, 

2154W, 2240F, 2263T, 

2946F 

Hauser, N., 876T 


Hauser, N. S., 2839W* 

Hauser, S., 2113T, 3330T 

Hauser, S. L., 270, 2299T 

Hausmann, L. D., 994T, 

1405F 

Hausser, I., 2869W 

Haussler, D., 466W, 1229F, 

3557F, 3612W 

Hautaniemi, S., 1117T 

Havas-Augustin, D., 1660T 

Haverfield, E., 2579F 

Havulinna, A. S., 1709T 

Hawes, A., 1742W 

Hawes, A. C., 314, 1735W, 

1757W, 1761W 

Hawley, N. L., 2159F 

Haworth, C. M. A., 2164T 

Hawrylycz, M., 2444F 

Hawthorne, F., 521F 

Hawthorne, F. A., 3521T 

Hawwari, A., 3149W, 3155W* 

Hay, J., 1841W 

Hayano, T., 482W 

Hayasaka, K., 3136F 

Hayase, T., 1940F* 

Hayashi, S., 914T* 

Hayashi, Y. K., 755W, 

2923W 

Hayden, K. E., 414W* 

Hayden, M. R., 265 

Hayeck, T., 1360F 

Hayeems, R., 320, 1872F*, 

1873F 

Hayeems, R. Z., 142, 1824F 

Hayes, J., 3054F, 3089W 

Hayes, L., 3076F 

Hayes, M., 2098T 

Hayes, M. G., 618T, 1447F, 

2036F, 3323W 

Hayes, V. M., 1085F, 3332W 

Hayflick, S. J., Session 10 

Haynes, C., 1444F, 1594T, 

1636T, 3541F 

Hayward, C., 1383T, 2072F 

Hayward, N. K., 212 

Hazan, F., 1106F, 3206F 

Hazlehurst, J., 3211W 

Hazra, A., 1073F 

Hazucha, M., 2851W 

He, C., 1098W, 1969T*, 

3483T 

He, G., 1174T 

He, J., 1324F*, 1465F 

He, J. B., 1259F 

He, L., 654T, 1174T*, 2419T 

He, L.-J., 1218W 

He, M., 1758W, 3300T, 3553F 

He, P., 1758W 

He, Q., 1434T* 

He, W., 503F, 2804T 

He, X., 722T, 864T, 1144T, 

1433W*, 2246F 

He, Y., 3308W, 3656W 

He, Z., 93* 

Headland, C., 3331F 

Healey, C. S., 209 

Healy, E., 303 

Healy, J., 31, 394, 1207T*, 

1215W, 3700W 

Heanue, T., 308 

Heard-Costa, N., 2030F*, 

2123F, 2337W 

Heath, A. C., 2056T, 2212T 

Heath, G., 1238F 

Heath, S., 2303F 

Heaton, W. H., 3529F 

Heba, T., 831F* 

Hebbar, P., 3369T 

Hebbring, S., 2297F* 

Hebbring, S. J., 3326W 

Hebert, A. M., 693F* 

Hebert, J. M., 633T, 635T 

Hebert, L., 458W 

Hebson, C., 1679T 

Hecht, J., 298, 1908W*, 

2325W 

Heckbert, S. R., 1585T 

Heckenlively, J., 2135F 

Heckenlively, J. R., 2183F, 

3234F 

Heckerman, D., 1379W*, 

3468T 

Heckman, L., 2807T* 

Hedera, P., 2438F 

Hedges, D., 524W, 2330F, 

3706W 

Hedges, D. J., 9, 270, 

2572T, 2614T, 3390T 

Hedley, P. L., 2699T 

Hedman, A., 583F 

Hedman, A. K., 44*, 2187W, 

3441T 

Heesen, L., 236 

Heffelfinger, C., 551F, 3313F* 

Heffner, L., 3026T 

Heffron, T., 3582W 

Hefner, K. S., 529F, 2188T 

Hegde, M., Session 3, 66 

Hegde, M. R., 1758W 

Hegele, R., 1688T 

Hegele, R. A., 2800W 

Hegele, R. G., 1465F 

Heguy, A., 998F 

Hehir-Kwa, J., 979W 

Hehir-Kwa, J. Y., 100, 459F, 

955W 

Heid, I., Session 7 

Heid, I. M., 1954T, 2123F, 

2147F 

Heidari, N., 416W* 

Heide, H., 782W 

Heide, S., 890T 

Heijmans, B. T., 1436W 

Heikkilä, P., 1171T, 1265F 

Heikkinen, T., 1006T*, 

1117T, 1171T, 1265F 

Heil, S., 853F, 2300F 

Heilbuth, T. R., 1902W 

Heilmann, S., 106* 

Heim, K., 275*, 584W, 782W 

Heiman, G. A., 261, 2433W, 

2602T* 

Heimdal, K., 129 

Heimer, G., 660T 

Hein, A.-M., 3641F 

Heinrich, J., 2167T, 2168F, 

2226W 

Heinrich, J. K., 1033T 

Heinzen, E. L., 203, 266 

Heise, E., 1853F 



Heiss, G., 174, 1437T, 

1661T, 2041T 

Heit, J., 1497T* 

Heit, J. A., 1375F 

Heitmann, M., 3496T 

Heitzer, E., 1063T, 1115F* 

Hekimgil, M., 1025F 

Helderman-van den Enden, 

A. T. J. M., 1711T 

Helen, R., 2812W 

Helfmann, S., 59 

Hellebrekers, D. M. E. I., 

2996T* 

Hellenthal, G., 181 

Heller, R., 236, 2944W 

Hellin, A.-C., 925W 

Helliwell, T., 33 

Hellwege, J. N., 1888T* 

Helms, C., 1952F 

Helwi, P., 841F 

Helzlsouer, K. J., 1822F 

Hem, V., 1762W 

Hemani, G., 1394W 

Hemmelmann, C., 200 

Hemmer, B., 2086T 

Hemmrich-Stanisak, G., 

2368T* 

Hempel, M., 2595W, 2917W 

Henders, A. K., 2133W 

Hendershot, L., 1847W 

Hendershot, T., 1566T 

Henderson, A., 126 

Henderson, A. J., 2168F 

Henderson, B., 205, 1324F 

Henderson, B. E., 1148F, 

2131T, 2202W 

Henderson, J., 1567F, 

2102F, 2167T 

Henderson, S., 133 

Henderson-MacLennan, N. 

K., 1658T, 2065T 

Hendricks, A., 1518T, 

2304W* 

Hendrickx, A. T. M., 2996T 

Heneghan, M. A., 153 

Heng, M. Y., 2423F* 

Hengstenberg, C., 3453T 

Hengstler, J., 1335T 

Henn, B., 3345T 

Henn, B. M., Session 6, 

186, 371, 3361F, 3368W, 

3385F, 3411W 

Hennah, W., 252 

Henneberg, M., 3344W 

Hennekam, E. A. M., 431F 

Hennekam, R., 127, 2701W, 

2759T 

Hennekam, R. C., 681F 

Hennekam, R. C. M., 216, 

2886F 

Henneman, P., 228, 2107T*, 

2116T 

Hennies, H. C., 2869W 

Hennis, A., 1003T 

Henrich, V. C., 107* 

Henrion, E., 1670T, 2342F, 

2558F 

Henrion Caude, A., 522W* 

Henrique, H., 1108T 

Henry, C., 259 


Henry, P. G., 2539T 

Hentati, F., 2537F 

Heppe, D. H. M., 1334W, 

2169W 

Herder, C., 275 

Heredia, N., 3690W 

Herman, D. S., 1677T 

Herman, G., 456W 

Herman, S., 1494T 

Hermann, M., 2581T 

Hermannsson, L., 3573F 

Hermansson, M., 541F 

Hermetz, K. E., 66 

Herms, S., 420W*, 1005W, 

3550W 

Hernaez, R., 2275T 

Hernandez, B. G., 988T* 

Hernandez, D. G., 564W, 

2148W 

Hernandez, K. N., 707F 

Hernandez, N., 415F, 

2377T* 

Hernandez, P., 1646T 

Hernandez, R., Session 6, 

589F 

Hernandez, R. D., 158 

Hernandez, W., 40 

Hernandez-Escalante, V., 

2272T 

Hernandez Fuentes, M., 

2082W 

Hernandez-Fuentes, M. P., 

2260T 

Hernández-García, A., 834F 

Hernández-Garcia, A., 

839F* 

Hernández-Hernández, O., 

3124F, 3226F 

Hernández-Zamora, E., 

3125W 

Hernesniemi, J., 1253F 

Herold, C., 106, 1332T* 

Heron, D., 127, 889W, 

2770W 

Héron, D., 131, 3157W 

Heron, S. E., 2741T* 

Herrera, P., 1119W 

Herrera, V., 1714T 

Herrera-Sanchez, F., 2272T 

Herring, J. A., 221, 1359T 

Herrington, D., 1661T 

Herrmann, A., 580W 

Herrmann, R., 2681T, 2812W 

Hersh, C. P., 2249F 

Hershberger, R., 1681T 

Hershey, G., 578W 

Hershman, D. L., 1255T 

Hershman, S. G., 326 

Hertecant, J., 2740W 

Hertz-Picciotto, I., 2491T 

Hervás, A., 2578T 

Herzenberg, J. E., 2860W 

Herzfeld, T., 2416T 

Herzog, E., 72 

Hesselson, S., 112, 421F, 

2140T, 2513F, 3342T, 

3383W 

Hesselson, S. E., 118 

Hessl, D., 770W 

Hester, J., 2332T* 

Hester, J. M., 2310W 

Hestholm, B., 2965W 

Hetland, M., 621T 

Hetmanski, J. B., 1425T, 

1472W, 1512T 

Hetrick, K., 2556W, 3644W, 

3716W 

Hetrick, K. N., 1448W 

Hettige, N., 2408F 

Heuberger, A., 1189T 

Heulens, I., 2527T 

Heuzé, Y., 2151W 

Hevroni, D., 3656W, 3703F 

Hewitt, A. W., 2068T 

Hewitt, S. M., 1092W 

Hewson, S., 717F 

Heydari Sodejani, S., 

2013W* 

Heydari Sodjani, S., 1596T* 

Heyer, C. M., 1909T 

Heyman, M., 1035W, 1126T 

Hiatt, J., 10 

Hibaoui, Y., 67* 

Hibar, D. P., 2054F 

Hibbard, M., 1032W 

Hibberd, M., 429F 

Hiber, M., 392 

Hibino, H., 2370W 

Hickerton, C., 143 

Hickey, F., 1847W 

Hickey, L., 477F 

Hickey, P., 2741T 

Hickey, S., 456W 

Hickman, M., 1567F 

Hicks, A. A., 86, 110 

Hicks, C., 1116W* 

Hicks, D. J., 136 

Hicks, J., 2854W 

Hicks, J. E., 2378F* 

Hicks, M., 1649T 

Hicks, M. D., 2702T* 

Hicks, P., 2332T 

Hicks, P. J., 1661T, 2310W 

Hicks, S., 1798F, 3549F* 

Hidalgo, A., 1030T 

Hidalgo-Miranda, A., 1129T 

Hiekkala, M. E., 2348F* 

Hiekkalinna, T., 1563T*, 

2208W, 2399F 

Hiemenga, J., 3037W* 

Hiene, A., 3662W 

Higasa, K., 2409W, 2569T 

Higashi, K., 2601W 

Higashimoto, K., 3432T, 

3519T 

Higgins, A., 1494T 

Higgins, A. W., 82 

Higgs, D. R., 418W 

Higgs, J., 330 

Higgs, R. H., 1235F 

High, K., Session 23 

Highland, H. M., 169, 269*, 

2192F 

Highnam, G., 469F 

Hightower, R. C., 1661T 

Higuchi, I., 2601W 

Higuchi, Y., 2418W, 2601W, 

2607W, 2616W* 

Hilal, S., 930T 

Hilbers, F. M., 1213T 

Hilbers, F. S., 27* 

Hilbert, P., 3181W, 3216F 

Hildebrand, M., 2867T 

Hildebrand, M. S., 60, 

3228F* 

Hildebrandt, F., 406 

Hildebrandt, J., 3717F 

Hildebrandt, L. L., 2699T 

Hildebrandt, M. A. T., 213 

Hill, A., 266 

Hill, A. V., 2157W 

Hill, A. V. S., 1948T 

Hill, D. A., 132 

Hill, D. E., 2660F 

Hill, D. P., 1339F 

Hill, H. R., 495F, 2720T 

Hill, M., 3018T 

Hill, R. S., 8, 266, 452W, 

2613W 

Hillier, L., 2320T 

Hillmer, A. M., 106, 3047W 

Hills, L. B., 266 

Hilton, C., 2139W 

Himes, B., 2166W 

Himes, B. E., 622T, 625T, 

638T* 

Himmelstein, D. S., 1501F* 

Hinckley, J., 1889F* 

Hindorff, L., 1608T 

Hindorff, L. A., 1845W, 

1925F, 2042F, 2108F*, 

2155T 

Hinds, D., 106, 2161T 

Hinds, D. A., 114, 498W, 

1017W*, 2089T, 2100W, 

2115W 

Hinek, A., 3186F 

Hingorani, A., 1621T 

Hinrichs, A., 2582F, 3557F 

Hinzpeter, A., 572W* 

Hip-Ki, E., 2266T, 3268F, 

3341W 

Hippolyte, L., 62, 299 

Hira, G., 100 

Hirai, H., 468W 

Hirai, Y., 468W 

Hiraki, L. T., 191* 

Hirakiyama, A., 2911W 

Hirankarn, N., 2006F, 

2064W 

Hirano, A., 2174F 

Hirasawa, T., 2835F 

Hirata, M., 1593T 

Hirbo, J., 3303T, 3338W 

Hirota, T., 2294F* 

Hirschhorn, J., 350, 2210F, 

3413W 

Hirschhorn, J. N., 23, 108, 

1677T, 1906T, 1954T, 

1960T, 2090F, 2123F, 

2131T, 2147F, 2241W, 

2307W, 2364W, 3525T 

Hirte, H., 1824F 

Hirv, K., 3539F 

Hishimoto, A., 2380T 

Hitayezu, J., 3104F 

Hitchen, J., 3668W, 3721F 

Hitomi, Y., 53, 2455T* 

Hitz, B. C., 3612W 

Hixson, J. E., 1932W

Hixson, P., 893W, 898T, 

952T 

Hixson, R., 1309F 

Hjalgrim, H., 1934F, 2055W 

Hjermind, L. E., 2765T 

Hjorthaug, H. S., 3510T 

Ho, A., 2480F 

Ho, B. C., 422W 

Ho, C. K., 2238W* 

Ho, G., 2795T 

Ho, J., 2279F, 2280W 

Ho, L.-T., 1955F 

Ho, P., 2160W 

Ho, P. C., 3000T 

Ho, V., 1238F 

Hoal, E., 2217W, 3385F 

Hoal, E. G., 2003F, 2007W 

Hoang, N., 1872F, 1873F* 

Hoang, V., 1691T 

Hoather, T. M., 1105T 

Hobbs, C. A., 1459F 

Hobel, S., 3587F 

Hobson, G., 2664F* 

Hobson, G. M., 2793F 

Hochreiter, S., 95, 1483F*, 

1486F, 2374T 

Hocking, T. A., 978T 

Hodge, J. C., 103, 1145F*, 

2575T 

Hodges, K., 853F 

Hodges, S., 3690W 

Hodgkinson, A., 2266T, 

3268F*, 3341W 

Hodgkinson, C. A., 2574W 

Hodgkinson, K. A., 454W 

Hodgkiss, D., 503F 

Hodgson-Jensen, L., 1093T 

Hoefsloot, E. H., 58 

Hoefsloot, L., 65, 1874F 

Hoefsloot, L. H., 2925F 

Hoeijmakers, J. G. J., 

2448W 

Hoekstra, P. J., 2602T 

Hoen, P., 582W 

Hoffman, C., 660T 

Hoffman, D., 3582W 

Hoffman, E., 3249W 

Hoffman, G. E., 357, 

1355W* 

Hoffman, J., 907W, 1729W* 

Hoffman, J. D., 1286W* 

Hoffman, R., 458W 

Hoffman, R. D., 3275W 

Hoffman, T., 421F, 1741W*, 

3383W 

Hoffman, T. J., 246 

Hoffmann, C., 3536W 

Hoffmann, D., 3500T 

Hoffmann, E. M., 1115F 

Hoffmann, G. F., 699F 

Hoffmann, P., 420W, 1005W, 

3550W* 

Hoffmann, R. G., 1475W* 

Hoffmann, S., 1612T 

Hoffmann, T., 112, 2513F, 

3342T 

Hoffmann, T. J., 7, 118*, 

1250F, 1475W, 2140T 

Hofker, M. H., 523F 

Höfler, G., 1115F 


Hofman, A., 87, 584W, 

1284T, 1334W, 1503T, 

2081F, 2105F, 2169W 

Hofman, N., 1616T 

Hofman, O., 356 

Hofmann, A., 2416T 

Hofmann, K., 105 

Hofmann, N., 2330F 

Hofmann, S., 2103W 

Hogan, N. S., 1822F 

Högel, J., 939W 

Hogenesh, J., 2592W 

Hogg, C., 809F 

Hogg, G., 2973T*, 3023T 

Hogg, K., 645T, 3429T* 

Hoggart, C., 1387F, 1528F 

Högl, B., 2567F, 2568W 

Högler, W., 2864T 

Hoglund, B. N., 3713F* 

Hogue, W. R., 2854W 

Hohjoh, H., 799W 

Hohmann, J., 2444F 

Höhne, K., 2103W 

Höhne, W., 2759T, 2861T 

Hoiness, R., 1736W 

Hoischen, A., 97, 124, 125, 

216 

Hojati, Z., 892T 

Hokanson, J. E., 1672T, 

1673T, 2249F, 2346W 

Hokken-Koelega, A., 2701W 

Hokonohara, T., 2400W 

Hokynar, K., 541F* 

Holcomb, C. L., 3713F 

Holcomb, K., 1272W 

Holden, K., 3171W 

Holden, K. R., 2826F 

Holden, S., 83 

Holder, A. M., 834F 

Holder, M., 126 

Holder, S. E., 298, 2925F 

Holder-Espinasse, M., 

889W, 2896W, 3109W, 

3172F 

Holinski-Feder, E., 758W, 

1005W 

Hölker, I., 236 

Holladay, J., 1021T 

Holland, N., 3458T 

Hollemon, D., 3020T 

Holley, T., 1186T 

Holliday, E. G., 2133W 

Holloway, A. K., 195 

Holloway, L., 2806W 

Hollox, E., 438W*, 450W, 

3325F 

Hollox, E. J., 449F, 2641T 

Holm, I., 921W* 

Holm, I. A., 1799W, 1836F*, 

1843W 

Holman, K., 3167W 

Holmberg, R., 3011T 

Holmes, C., 235 

Holmes, S., 2805F 

Holmfeldt, L., 31 

Holohan, K. N., 2531F* 

Holstege, G., 494W 

Holstege, H., 494W* 

Holt, A., 407 

Holt, R. A., 375 


Holzinger, E., 1442W* 

Homan, E. P., 2854W* 

Homuth, G., 275, 2141F 

Honda, M., 2496W, 2656T 

Honda, Y., 2496W 

Honey, E. M., 131 

Hong, C., 2117F 

Hong, D., 3479T 

Hong, E. L., 3612W* 

Hong, H., 1830F 

Hong, K., 2060F* 

Hong, K.-W., 1622T 

Hong, L., 2112W 

Hong, M., 551F, 1189T, 

1990T, 2273F 

Hong, S., 2460W* 

Hong, X., 3026T 

Honig, L., 2547W 

Honig, L. S., 2093F, 2410T 

Honore Goltz, H., 1857F 

Honti, F., 445F 

Honzik, T., 752T 

Hood, L., 2643W 

Hood, L. E., 195 

Hood, R. L., 131 

Hood, S., 3267T 

Hoogenboom, J., 3611F 

Hoogerbrugge, N., 27, 1213T 

Hoogstraat, M., 400 

Hooker, S., 93 

Hooli, B., 2520W 

Hooper, A., 1680T 

Hooper, C., 1119W 

Hooper, W. C., 611T 

Hoos, M. B., 1711T 

Hoover-Fong, J., 227 

Hopkin, J. M., 3466T, 3486T 

Hopkin, R., 789W 

Hopkins, P., 1875F 

Hopkins, T. J., 306 

Hopp, K., 1909T* 

Hoppe, N., 1848W 

Hoppe, T., 105, 1939T 

Hoppel, C. L., 741F 

Hopper, J., 1492F 

Hopper, J. L., 141, 1067F, 

1079F, 1206W, 1213T 

Hoppman-Chaney, N., 

887W 

Hops, H., 642T 

Hor, H., 2326T* 

Horenstein, R. B., 602T 

Horike, S., 3497T*, 3498T 

Horikoshi, M., 119, 190, 

1308T*, 1528F, 2076W, 

2137T 

Horinek, A., 3437T 

Horita, H., 3136F 

Horjales-Araujo, E., 2369F* 

Hormozdiari, F., 3639F*, 

3657F 

Horn, D., 298, 2595W 

Horn, F., 849F 

Horn, H. F., 2914W 

Hornemann, T., 758W 

Hornyak, M., 2568W 

Horovitz, D. D. G., 1877F 

Horpaopan, S., 1005W 

Horsburgh, K. A., 3333T 

Horst, B., 3319F 

Horst, D., 3319F 

Horst, J., 126, 3319F* 

Horst, J. A., 813F 

Horsthemke, B., 392, 

3496T, 3500T, 3524T 

Horvath, A., 1151F 

Horvath, G., 750T 

Horvath, R., 751F 

Horvath, S., 2256W, 2444F, 

2479T, 2553W, 2661W, 

3474T 

Hoseinpour Pheysi, A., 

779W 

Hosen, M. J., 833F*, 

1790W, 3137W 

Hoskins, J., 1199F 

Hoskins, L., 1064F 

Hosoda, F., 396 

Hosokawa, M., 2174F 

Hosoki, K., 3056F* 

Hosomichi, K., 482W* 

Hosono, N., 396, 2174F 

Hosoya, T., 663F 

Hosseini, M., 1175F* 

Hosseini, R., 407 

Hosseini, S. M., 2109W* 

Hosseinipanah, M., 860T 

Hostetter, G., 1186T 

Hotate, M., 3091W 

Hotte, S., 1824F 

Hotte, S. J., 135 

Hottenga, J. J., 2175W 

Hou, C., 1996T, 2121W 

Hou, L., 189*, 2622W* 

Hou, X., 1662T, 1971W 

Houdayer, C., 1205F 

Houldcroft, C., 2163W* 

Houlden, H., 2581T 

Houlston, R., 1072T, 1531F, 

2580W 

Hourlier, T., 506W 

Housawi, Y., 2785W, 2892F 

Houseman, E. A., 3629F 

Houshmand, M., 1056W, 

1124F, 1175F, 2367W, 

2976T, 3197W 

Housley, G. D., 2662W 

Houston, G. D., 529F, 2188T 

Houwing-Duistermaat, J. J., 

2035T 

Hovanes, K., 954T, 3054F 

Hovatta, I., 2110T*, 2175W, 

2399F 

Hovatta, O., 807F 

Hovelson, D. H., 641T* 

Hoven, V., 2006F 

Hovingh, G. K., 1604T, 

2205W 

Hovnik, T., 2688F*, 2710W 

Howald, C., 506W* 

Howard, A., 3100F 

Howard, E., 474W 

Howard, K., 2109W 

Howard, M., 538W, 2689W 

Howard, M. A., 2779W 

Howard, P., 122 

Howard, T., 2143T 

Howard, T. A., 648T, 2331W 

Howell, S., 2158T, 2741T 

Howells, O. W., 262 



Howerth, E., 2805F 

Howie, B., 88 

Howson, J., 453F 

Hoyer, J., 3235W* 

Hoyme, H. E., 3076F 

Hozayen, S., 1665T 

Hozumi, Y., 1317T 

Hrabé de Angelis, M., 

2922F 

Hrdlickova, B., 523F 

Hrdý, P., 2865F 

Hromatka, B. S., 2111F* 

Hruska, K., 2579F 

Hruska, K. A., 1661T 

Hsi, E., 516W* 

Hsiao, C., 989F*, 3485T 

Hsiao, C. L., 2245T, 3457T* 

Hsiao, G., 493F 

Hsieh, A., 1557T 

Hsieh, A. R., 1380T*, 2245T 

Hsieh, C. L., 1214F 

Hsieh, M., 2768T* 

Hsieh, P. H., 3354T* 

Hsieh, W., 3596W* 

Hsiung, C., 629T, 989F, 

1608T 

Hsiung, C.-A., 1955F 

Hsiung, S., 3730W 

Hsu, C., 508W, 3678W* 

Hsu, C. F., 2768T 

Hsu, C. J., 2936T 

Hsu, C. N., 1439W, 1925F 

Hsu, E., 3644W 

Hsu, F. C., 123 

Hsu, J., 163 

Hsu, L., 1437T, 2268W*, 

2337W 

Hsu, S., 493F, 2571W, 

2606F 

Hsu, T. Y., 571F 

Hsu, Y., 945W, 953W 

Hsu, Y.-H., 1334W, 2052W* 

Hsueh, W. A., 1916F 

Hu, D., 158, 1075T, 1078T*, 

1152W, 1576F, 2195F, 

3303T 

Hu, F., 1357F, 2165F, 2354F 

Hu, F. B., 51 

Hu, H., 29*, 195* 

Hu, H. H., 1062W 

Hu, H. J., 3607F 

Hu, J., 904T, 2418W, 3561F 

Hu, J. J., 2202W 

Hu, K., 1905W, 3293W 

Hu, L., 1249T 

Hu, M., 1004F 

Hu, N., 1010F, 1076F, 

1218W 

Hu, O., 542W 

Hu, P., 1459F, 1508W* 

Hu, Q., 3428T 

Hu, R., 638T 

Hu, T., 1453F*, 2571W 

Hu, X., 1040F, 2250W, 

3553F 

Hu, Y., 170, 1036T, 1231T, 

1533T*, 1558F, 3355F*, 

3551F* 

Hu, Y. J., 1437T* 

Hu, Z., 984W, 2617T 


Hua, X., 1511W 

Huang, A., 2779W, 3007T*, 

3021T 

Huang, B., 962T 

Huang, C., 516W, 1381F*, 

1894T, 2970T 

Huang, C.-C., 1666T* 

Huang, F.-Y., 2285F 

Huang, H., 241, 1403W, 

1515T, 1579F*, 1886F, 

3569F 

Huang, J., 116, 516W, 

668T*, 1509T*, 2259W, 

3604W 

Huang, J.-H., 2970T 

Huang, K., 537F, 1491T*, 

1917W* 

Huang, L., 198, 575F, 651T, 

701F, 1900T, 2800W 

Huang, M., 989F 

Huang, N., 43, 553F, 2982T 

Huang, Q., 673F, 1546F*, 

1693T 

Huang, R. S., 623T 

Huang, S., 613T, 1472W, 

2251T* 

Huang, S. W., 1586T 

Huang, T., 3467T 

Huang, W., 519F, 616T, 

818F, 1945T, 2819T, 

3493T, 3552W*, 3682W 

Huang, Y., 1662T*, 2181W*, 

2237F*, 2251T, 2262W, 

2320T, 2343W*, 2467T, 

2523W, 2581T, 2849T, 

3371W 

Huang, Y. A., 803W 

Hubbard, T., 367, 464W, 

506W 

Hübenthal, M., 2368T 

Huber, C., 3129W 

Huber, J., 941W, 1037F, 

1038W 

Huber, W., 551F 

Hubert, B., 2866W 

Hubert, C., 716T 

Hubert, P., 2674W 

Hubley, L., 1752W 

Hubley, R., 195, 3270T 

Hubner, N., 2102F 

Hucks, D., 136 

Huda, M. S. B., 3211W 

Huddleston, J., 375, 3296W 

Hudgins, L., 869W, 2989T 

Hudson, A., 3442T, 3452T 

Hudson, B., 3622W 

Hudson, B. I., 1638T 

Hudson, M. S., 50 

Hudson, T., 3478T 

Hudson, T. H., 1093T 

Hudson, T. J., 135 

Hudspith, K., 2939T 

Huebner, C., 1868F* 

Huen, K., 3458T* 

Huentelman, M. J., 2104T, 

3215W 

Huerta-Chagoya, A., 48 

Huerta-Sanchez, E., 3300T* 

Huesca, F., 3125W 

Huet, F., 2716W, 2792T 

Huether, C., 1860F 

Huff, C., 385 

Huff, C. D., 195, 3297T*, 

3378T, 3633F 

Hüffmeier, U., 2160W 

Hufnagel, R. B., 3194F, 

3212F* 

Huganir, R., 13, 2566T 

Huggins, G., 2083T 

Huggins, W., 1566T 

Hughes, A. E., 2843T* 

Hughes, D., 772W 

Hughes, J., 218 

Hughes, K., 2974T 

Hughes, M., 78 

Hughes, P., 529F, 2188T 

Hughes, T., 3510T, 3614W 

Hughes, T. M., 3275W 

Huh, I.-S., 269 

Huh, R., 3462T 

Huh, W. J., 3395W 

Hui, K., 17 

Hui, K. Y., 1320T* 

Huizing, M., 709F, 711F, 

755W, 1702T, 2838F, 

3080F 

Huizinga, T., 461F 

Hukema, R., 513F 

Hulick, P. J., 1225T 

Hu˚ lková, H., 322 

Hull, A. K., 1016F 

Hulme, W., 2603F, 3706W 

Hulme, W. F., 9, 341, 2318F, 

2572T 

Hulshoff Pol, H. E., 2526W 

Hulsman, M., 1436W 

Hultén, M. A., 3032T 

Hultman, C., 290, 1325W, 

2487W 

Hultman, C. M., 2576F, 

2618F, 3442T, 3452T 

Humbert, M., 2690T 

Humbert, M. C., 323 

Hume, S., 1052F 

Humphray, S., 366, 1238F, 

3663F* 

Humphrey, M. B., 566W 

Humphreys, K., 1934F, 

2055W 

Humphreys, M. K., 206 

Humphreys, P., 701F, 

2794W 

Humphries, C. E., 341* 

Humphries, S. E., 122 

Hung, C., 655T, 1905W, 

2392T 

Hung, C. Y., 297* 

Hung, I. H., 828F* 

Hung, S., 3708W 

Hung, T., 3700W 

Hung, Y.-R., 1955F 

Hunt, C. A., 262 

Hunt, K. A., 155 

Hunt, K. J., 1662T 

Hunt, L., 1713T 

Hunt, P., 250 

Hunt, S., 1608T, 1653T, 

3669F 

Hunter, D., 205, 2165F, 

3413W 

Hunter, D. G., 2928F 

Hunter, D. J., 51, 1148F, 

1150T, 1390F 

Hunter, E., 36 

Hunter, J., 2063F 

Hunter, J. E., 3042F* 

Hunter, L. A., 2702T 

Hunter-Zinck, H., 3288T* 

Huntley, M., 1539T 

Huntsman, S., 158, 1075T, 

1576F 

Huo, D., 1003T 

Huovari, E., 1006T 

Hurba, O., 2831T 

Hurd, L. M., 2855T* 

Hurd, T. W., 406 

Hurle, B., 3306T 

Hurles, M., 43, 61, 101*, 

252, 291, 364, 453F, 

455F, 553F, 560W, 2576F, 

2812W, 2982T 

Hurtado, M. L., 926T 

Hurtado-Hernandez, L., 

1018T* 

Husain, S. A., 1278W 

Husami, A., 1764W 

Huse, K., 580W 

Husemoen, L., 2317T 

Husgafvel-Pursiainen, K., 

2120F 

Husni, J., 2411F 

Huso, N., 79, 240 

Huson, S. M., 33 

Huss, M., 1976F 

Hussain, K., 2709F 

Hussain, N., 70, 856T 

Hussain, W. M., 1100F 

Hussein, S., 1031F 

Hussin, J., 31*, 2266T, 

3260W, 3268F, 3341W 

Hussman, J. P., 2572T 

Hutchinson, A., 30, 1160F, 

1218W 

Hutchinson, H., 136 

Hutchinson, J., 1081T 

Huttner, A., 334 

Hutton, H., 3303T 

Huyck, K. L., 2056T 

Huyghe, J. R., 46*, 1452T 

Huynh, M., 267 

Huysseune, A., 833F 

Hveem, K., 1608T 

Hwa, V., 2706F 

Hwang, D., 2437T 

Hwang, H., 1590T 

Hwang, J.-H., 2119T 

Hwang, K. B., 3635F 

Hwang, S., 1653T* 

Hwang, S. J., 3673F 

Hwang, Y., 2437T, 3223W 

Hwang, Y. S., 3180F 

Hwu, C.-M., 1955F* 

Hwu, W.-L., 683F 

Hwu, W. L., 706T 

Hyde, C., 503F 

Hyde, C. L., 2804T 

Hyde, T., 2444F 

Hyland, F., 1232F, 3670W, 

3717F 

Hyland, P. L., 1010F*

Hyppönen, E., 271, 2097W 

Hysi, P. G., 335*, 2068T 

Hytonen, M. K., 2517W 

Iaconis, D., 2810T 

Iacono, W., 1568W 

Iacovelli, A. J., 2928F 

Iacoviello, L., 1712T 

Iakoucheva, L., 480W 

Iakoucheva, L. M., 2660F 

Ialongo, N., 2541W 

Ianakiev, P., 3529F 

Iannaccone, A., 1060T 

Ianni, B., 1593T 

Iannuzzi, M. C., 1895F 

Iba, Y., 2697F 

Ibarra, B., 2363F 

IBC BP Consortium, 1659T 

IBC-Lipids Consortium, 

1606T 

Ibrahim, J., 768W, 769W* 

Ibrahim, M., 3303T, 3338W 

Ibrahim, S., 167 

Ice, J. A., 529F*, 2084F, 

2188T 

Ichida, K., 663F 

Ichihara, Y., 2923W 

Ichikawa, M., 233 

Ichikawa, N., 2032T 

Ichikawa, Y., 52, 2409W 

Ickstadt, K., 1335T 

ICPCG, 1080W 

Ida, K., 2891T, 3051W 

Idaghdour, Y., 31, 2266T*, 

3260W, 3268F, 3341W 

Ide, W. T. S. T., 2394W, 

2876T 

Idiyatullin, D., 821F 

Idoni, B., 2857W 

Ieiri, I., 641T 

IFAR Collaboration Team, 

1069T 

Iglesias, A., 3046F 

Ignatius, J., 897W 

Igo, R. P., Jr., 1295W, 

2020T 

Iguchi, Y., 2472W 

Iida, M., 2174F 

Iijima, H., 1980W 

Iijima, K., 729F, 781W 

Iijima, M., 627T 

Iio, K., 3043W 

Ikari, K., 2004W, 2287T 

Ikeda, K., 2507F 

Ikeda, M., 264, 2576F 

Ikeda, Y., 2129F 

Ikegami, M., 3105W 

Ikemura, M., 52 

Ikesaki, A., 2656T 

Ikezawa, Z., 627T 

Ikram, M. A., 1592T 

Iles, M. M., 211 

Illei, G. G., 2084F 

Illig, T., 275, 2226W, 2548T, 

3536W 

Illson, M. L., 673F 

Im, H., 40, 623T*, 1505W 


I 

Im, H. K., 269, 1495F, 

2196W 

Im, J. H., 571F 

Im, K. M., 1242W 

Imai, T., 2294F 

Imamura, A., 2652W 

Imaz-Rosshandler, I., 1129T 

Imbriano, P., 34 

Imperatore, R., 3492T 

Imtiaz, F., 2734W 

Inada, T., 2380T 

Inagaki, A., 59 

Inagaki, H., 475F* 

Inamori, Y., 2601W 

Inaoka, T., 1327F 

Inaoka, Y., 1321F* 

Inazawa, J., 914T 

Inbar-Feigenberg, M., 3420T 

Inchausti, V., 347, 2603F 

Incorpora, G., 2780T 

Indian Genome Variation 


Indonesia Schizophrenia 

Genetics Consortium, 

2407T 

Indrieri, A., 2810T* 

Indugula, S. R., 1660T, 2159F 

Ingebrigtsen, M., 2965W 

Ingelman-Sundberg, M., 

3460T 

Ingelsson, E., 108, 115, 117, 

1624T, 1707T, 1954T, 

1990T, 2074T, 2090F, 

2105F, 2123F, 2147F, 

2241W, 2358W 

Ingelsson, I., 2070W 

Ingelsson, M., 434W 

Ingersoll, R., 46 

Ingham, N. J., 105 

Ingles, S. A., 2202W 

Ingram, M. A. C., 2769F* 

INHANCE Consortium, 

1496W 

Inherited Neuropathies 


Injeyan, M., 2971T 

Injeyan, M. C., 3013T* 

Inlow, M., 2531F 

Inman, R., 448W 

Innes, A. M., 2772F, 3095W, 

3127W, 3141W, 3173W 

Innes, A. .M., 2800W 

Innes, M. I., 3665F 

Innis, J. L., 2850F 

Innocenti, F., 613T 

Inoko, H., 2253W 

Inokuchi, T., 724T 

Inoue, I., 482W, 2253W, 

2349W 

Inoue, K., 234* 

Inoue, N., 234 

Inoue, S., 589F 

Inoue, Y., 2656T 

International Consortium for 

Prostate Cancer 

Genetics, 28, 986F, 

1001F, 1214F 

International Consortium 

of HCV Spontaneous 

Resolution, 3393W 


International 

Craniosynostosis 


International EndoGene 

Consortium, GIANT 


International Genetics of 

Ankylosing Spondylitis 

and Wellcome Trust Case 

Control Consortia, 152 

International IBD Genetics 


1967F, 2229W 

International Multiple 

Sclerosis Genetics 

Consortium, 151, 1415W 

International Primary 

Sclerosing Cholangitis 

Study Group and 

Immunochip Consortium, 

2101T 

Introne, W. J., 3080F 

Inui, K., 2917W 

Ioan, A., 461F 

Ioannidis, J. P. A., 109, 1462F 

Ionita-Laza, I., 1530T* 

Ionita-Lazza, I., 1431T 

Iossifov, I., 2587T* 

Iovannisci, D., 1352W 

Ip, W., 2953W 

Iqbal, Z., 41, 472W, 3279T 

Iribarren, C., 118, 434W 

Irminger, J., 556W 

Irvine, A. D., 83 

Irving, M., 2896W 

Irving, M. D., 780W* 

Irwan, I. D., 1934F 

Irwanto, A., 1117T, 2112W* 

Irwin, M., 2203T 

Isaacs, A., 119, 2106W, 

2193W* 

Isaacs, W., 28, 1001F 

Isaacs, W. B., 1080W, 1214F 

Isaksson, M., 3685F, 3709F, 

3729F 

Isasi, R., 1814F* 

Iscan, A., 2396F, 2412W 

Ishak, G. E., 2772F 

Ishida, M., 3508T 

Ishigaki, S., 2472W 

Ishiguro, H., 2380T 

Ishii, M., 559F* 

Ishikawa, K., 598W, 2371T* 

Ishiko, A., 2911W 

Ishiura, H., 52*, 233, 2409W, 

2569T 

Ishiy, F. A. A., 852F 

Ishiyama, I., 1833W* 

Ishizu, N., 2559W 

Ishizuka, Y., 2009F 

Ishpekova, B., 201, 2948T 

Isidor, B., 3066F, 3233W* 

Iskow, R., 3251W*, 3310F 

Ismail, P., 1083W 

Isobe, N., 2113T* 

Isohanni, M., 252 

Isohanni, P., 327 

Isomura, M., 1333F* 

Israni, A. K., 1428T 

Issa, R., 990W* 

Issacs, W., 2202W 

Istrail, S., 3024T 

Italia, M., 2904F 

Italia, M. J., 3590W 

Italian Autism Network, 

2548T, 2659T 

Itan, Y., 3599F* 

Itirli, G., 1106F 

Ito, H., 52 

Ito, I., 2647T 

Ito, J., 2822T 

Ito, K., 1677T 

Iuliano, A., 1985F, 3492T 

Ivanov, M., 3460T 

Ivanova, M., 838F 

Ivanovich, J., 132 

Ivarsson, A., 1330F 

Iwaki, A., 2400W, 2647T 

Iwamoto, K., 2435F, 2652W, 

3513T 

Iwamoto, S., 2009F* 

Iwarsson, E., 3032T*, 3245W 

Iwasa, H., 2923W 

Iwata, A., 52 

Iwata, N., 264, 2576F 

Iyengar, S. K., 1295W, 

2020T 

Iyer, A., 3695F* 

Izatt, L., 218 

Izatt, T., 1240T 

Izumi, K., 3058F* 

Izumi, Y., 52, 3221W, 

3229W 

Izumikawa, Y., 2758W 

Izzo, G., 439F* 

J 

Jaal, J., 1140W 

Jabado, N., 1182W 

Jabbour, F., 890T 

Jablonski, K., 249 

Jabre, N. A., 749F 

Jabs, E. W., 1472W, 2151W, 

2928F, 3154F 

Jabusch, H.-C., 200 

Jacinto, A., 2085W 

Jackson, A., 1608T, 

3654W*, 3694W 

Jackson, A. R., 3433T 

Jackson, A. U., 46, 1954T, 

2147F 

Jackson, J., 433F 

Jackson, J. M., 1310W 

Jackson, R., 1408F, 1585T, 

1925F, 2145W, 2337W 

Jackson, R. D., 109, 2336F 

Jackson-Cook, C., 3512T 

Jacob, C. M., 131 

Jacob, C. O., 1979F, 2046W 

Jacob, H., Session 3 

Jacobs, G., 515F 

Jacobs, K., 1154F, 1517W, 

3683F 

Jacobs, K. B., 30, 213, 

1160F, 1372F 

Jacobs, K. J., 1218W 

Jacobson, E., 2243F 

Jacobson, S. G., 2183F 



Jacobsson, B., 3020T, 

3028T 

Jaconi, M. E., 807F 

Jacquemont, S., 62, 127, 

299*, 2458T 

Jacques, P., 123 

Jaddoe, V., 2164T 

Jaddoe, V. W. V., 1334W, 

2081F, 2162F, 2168F, 

2169W 

Jaeger, E. B., 1176W*, 

3686W 

Jaffe, D., 322 

Jaffrey, S., 376 

Jagadeesh, A., 2411F* 

Jaggawantru, S., 756W 

Jagomägi, T., 3079W 

Jahangirerad, A. J., 1096T 

Jahangiri, M., 1584T, 1675T 

Jaillard, S., 3170F 

Jaimes, G., 3069W 

Jain, P., 2556W 

Jain, S., 607T 

Jakkula, E., 2350T 

Jakobs, M., 1616T 

Jakobsen, J., 3528W 

Jakobsen, L., 126 

Jakobsen, R. R., 805F 

Jakobsson, M., 3356W 

Jakovski, Z., 3286F 

Jakubek, Y. A., 3628W* 

Jalaluddin Shariff, D., 1719W 

Jalil, S. F., 3078F* 

Jalkh, N., 2937F 

Jamain, S., 259* 

Jamal, S. M., 148, 301, 

1842F* 

Jamar, M., 925W 

Jameel, M., 2920W 

James, A. H., 2330F 

James, A. L., 1465F 

James, J., 2284T 

James, J. A., 549F, 1979F, 

2046W, 2084F 

James, P. A., 1224W 

James, S. J., 1459F 

James, T., 3663F 

Jameton, A., 1856F 

Jamieson, C. H. M., 1051T 

Jamshidi, M., 1117T* 

Janas, E., 2922F 

Janavicius, R., 1208F* 

Janecke, A., 2948T 

Janecke, A. R., 201 

Janevski, A., 3316F 

Jang, H., 1243T, 1657T 

Jang, I. J., 641T 

Jang, J. Y., 3223W 

Jang, W., 3625F 

Jang, Y., 1590T 

Janicsek, I., 3283F 

Jankipersadsing, S. A., 1330F 

Jankovic, J., 2581T 

Janmohamed, S. G., 745F 

Janousek, S. T., 718T 

Jansen, R. C., 1284T, 1503T 

Jansen Spayd, K., 1245W*, 

3687F 

Janson, A. A. M., 574W 

Janssen, A., 3137W 


Janssen, I. M., 160 

Janssens, A. C., 2105F 

Janssens, S., 423F, 2225F 

Januszkiewicz- 

Lewandowska, D., 

1057T*, 1184F 

Japanese Consortium for 

Amyotrophic Lateral 

Sclerosis Research 

(JaCALS), 3221W 

Jaquish, C., 2030F 

Jardim, L. B., 2424W*, 

2609F, 2626T, 2642F, 

2825T 

Jarhoor, F., 163 

Jarinova, O., 1645T 

Jaromi, L., 3283F 

Jarvela, I., 2181W 

Jarvelin, M., 252 

Järvelin, M. R., 271, 656T, 

1432F, 1528F, 1597T, 

1623T, 2162F*, 2164T, 

2173T, 2175W, 2366F, 

3435T 

Jarvik, G., 1447F, 2098T, 

3622W 

Jarvik, G. P., 170, 618T, 

1312F, 1605T, 1828F, 

2443T 

Järvinen, H. J., 1026W, 1276T 

Jarvis, J. P., 632T 

Jasinska, A., 2343W 

Jasinska, A. J., 2222F, 

2262W*, 2320T 

Jasmine, F., 1638T, 2025W 

Jasso, K., 2365T 

Jaswaney, V., 949W 

Jauregio, C., 2603F 

Javadi, G. H., 1124F 

Javed, A., 1556W*, 2631W*, 

3570W 

Javitz, H. S., 642T 

Jaworek, T., 2959W* 

Jaworski, J., 2508W, 2614T 

Jaworski, J. M., 9, 2572T 

Jaworski, M., 2242T* 

Jay, A., 3147W 

Jay, A. M., 885W 

Jay, F., 3356W* 

Jayakar, P., 1633T, 3175W 

Je, E., 1230W 

Jean, C., 1834F 

Jeandel, C., 3121W 

Jeandidier, B., 973W 

Jeanne, M., 1689T*, 2684T 

Jeannin, P., 1158W, 2248T, 

3137W 

Jee, S. H., 1472W 

Jeff, J., 1602T* 

Jeffrey, J., 3454T 

Jeffreys, A. J., 3257W 

Jeffries, N., 2247W 

Jego, G., 2716W 

Jego, L., 2792T 

Jelinska, C., 418W 

Jena, M., 3262F* 

Jenkins, D., 219, 2755W 

Jenkins, E., 859W* 

Jenkins, E. C., 1986W 

Jenkins, G., 603T 

Jenkins, G. D., 1426F, 

1449T 

Jenkins, L., 1748W 

Jenkins, M. A., 141, 1067F, 

1079F*, 1206W 

Jenkins, S. A., 2072F 

Jens, J., 785W 

Jens, J. K., 2717T 

Jensen, E., 1691T 

Jensen, K. M., 1867F 

Jensen, R., 2041T 

Jensen, T. J., 3014T* 

Jensen, T. S., 2369F 

Jeong, C., 2021F* 

Jeong, D. C., 2715F 

Jeong, E. K., 2529W 

Jeong, J., 1198T, 2313W 

Jeong, K., 3459T* 

Jepsen, S., 2058W 

Jerez, D., 2495F 

Jerome-Majewska, L. A., 

831F, 848F 

Jessen, J., 2971T, 3196F 

Jesus, G., 1977W 

Jeter, J. M., 1087T 

Jett, C., 3053W 

Jewell, S., 368 

Jewett, E., 3357T* 

Jeyabalan, A., 1884W 

Jhala, D., 2731W* 

Jhamai, M., 3608W 

Jhangiani, S., 360, 2934F* 

Jhun, M. A., 2275T 

Ji, S.-M., 1622T 

Ji, T., 462W 

Jia, J., 1088F*, 1199F 

Jia, L., 690T 

Jia, P., 136, 3554W*, 3620W 

Jia, W., 3553F* 

Jia, X., 798W, 1934F, 2047T 

Jiang, G., 2279F 

Jiang, H., 159 

Jiang, L., 1221W, 1505W, 

3335W 

Jiang, M., 411 

Jiang, M. M., 2854W 

Jiang, M.-M., 2864T 

Jiang, P., 2636F 

Jiang, Q., 308* 

Jiang, R., 1142F, 2481W* 

Jiang, T., 3561F 

Jiang, X., 260, 2622W 

Jiang, Y., 462W, 1963T, 

2617T*, 3168F, 3237W 

Jiao, S., 1437T 

Jiao, W., 135 

Jimbo, E. F., 2588F, 3118F 

Jimenez, D. E., 3272W 

Jin, F. L., 3416T 

Jin, H., 1316W, 1377T, 

1928F, 3420T 

Jin, J., 579F 

Jin, L., 443F, 519F, 1499W, 

1508W, 2460W, 3265F, 

3308W, 3334F, 3355F, 

3358F, 3377W, 3379F, 

3394T 

Jin, M., 1359T 

Jin, P., 382, 2477F, 3483T 

Jin, S. C., 1472W 

Jin, W., 3334F, 3358F*, 

3394T 

Jin, X., 159*, 480W, 503F, 

2617T, 3300T, 3311W 

Jin, Y. J., 846F 

Jin, Y.-Y., 797W* 

Jinawath, N., 2918T* 

Jiralerspong, S., 8, 722T 

Jirsa, M., 570W 

Jo, E. J., 1298W 

Jobanputra, V., 957W, 

1031F*, 1600T 

Jobling, R., 717F* 

Jochim, A., 2086T 

Jockel, Y., 2058W 

Jocson, M., 3522T 

Joe, G., 711F 

Joecker, A., 3528W, 3641F, 

3662W 

Joehanes, R., 584W 

Joens, C., 547F 

Joensuu, T., 2898F 

Johannesson, M., 2505W 

Johansen, J., 621T 

Johansson, A., 2920W 

Johansson, B., 1023W, 

1024T, 1035W 

Johansson, H., 3685F, 

3729F* 

Johansson, K., 630T 

Johansson, L. F., 1619T 

Johansson, M., 1012T 

Johansson, P., 1259F 

Johansson, S., 2451W 

Johbanputra, V., 937W 

John, E. M., 1003T, 1075T, 

1213T, 2202W 

John, P., 2398T, 3078F 

John, S., Session 26, 3369T 

John, S. L., 503F, 2804T 

John, V., 1133F 

Johnatty, S., 210 

Johns, J., 1256F 

Johnson, A., 1091F, 1092W, 

1267T, 2063F 

Johnson, A. D., 174, 301, 

584W 

Johnson, B. F., 3708W 

Johnson, C. A., 403, 2955F 

Johnson, C. S., 3428T 

Johnson, D., 218, 3129W 

Johnson, E., 2114F*, 2650T, 

3561F 

Johnson, E. O., 1392T, 

2170T 

Johnson, F. K., 732T* 

Johnson, G. C., 2817F 

Johnson, G. S., 2805F, 

2817F, 2847F* 

Johnson, J., 2210F 

Johnson, J. A., 626T, 646T 

Johnson, J. O., 2611T 

Johnson, K., 765W, 1203W, 

1774W, 2054F 

Johnson, K. J., 3564W 

Johnson, K. R., 1878W 

Johnson, M., 1280W, 1394W 

Johnson, M. G., 1382W* 

Johnson, M. P., 533F, 1282F, 

1406W, 2061W, 2309F*

Johnson, N. A., 646T, 

3318T, 3383W 

Johnson, P., 1626T 

Johnson, R., 1267T 

Johnson, S., 309, 3359W* 

Johnson, T., 1400W*, 

1595T, 1659T, 2174F 

Johnson, T. A., 1552F*, 

2051F, 2071T 

Johnson, W. G., 2501F 

Johnson, Z., 595F 

Johnston, C., 3108F 

Johnston, J., 358* 

Johnston, J. J., 674T, 1696T 

Johnstone, L., 2788W 

Johnston IV, H. R., 3414W* 

John-Williams, K., 2586W, 

2637W 

Joint Committee of 

NBSTRN Clinical Centers 

Workgroup and NCC/RC 

Long-Term Follow-Up 

Workgroup, 725F 

Jokinen, E. P., 1139F 

Jondeau, G., 56 

Jones, A., 2444F 

Jones, C., 113, 177, 186, 

1451W, 3664W 

Jones, C. M., 157, 1516F 

Jones, C. R., 2667F 

Jones, D. E., 153 

Jones, D. M., 945W 

Jones, G., 2292W 

Jones, J., 245, 940T 

Jones, J. R., 2901F*, 3684W 

Jones, K., 3512T 

Jones, K. L., 3076F 

Jones, K. W., 1142F 

Jones, M., 993W, 1092W 

Jones, M. A., 1758W* 

Jones, M. P. S., 1302T 

Jones, M. R., 1916F 

Jones, R. B., 614T 

Jones, S. J. M., 2772F 

Jones, S. M., 2663T 

Jones, T. J., 1878W 

Jones, W. D., 2896W* 

Jongbloed, J. D. H., 1619T, 

3650W 

Jongen, E., 708T 

Jonges, T., 400 

Jonsrud, C., 2965W 

Jonsson, R., 2084F 

Jonveaux, P., 2770W 

Joo, J., 1337W, 3555F* 

Joober, R., 2402F, 2558F 

Jordan, D. M., 3404T 

Jordan, J., 2052W 

Jordan, L., 1082F 

Jordanova, A., 201, 2948T 

Jorde, L. B., Session 81, 

195, 600F, 1904F, 3297T, 

3378T 

Jorge, A. A. L., 2706F 

Jorge, P., 2417F, 2631W 

Jorgensen, J., 1689T 

Jorgensen, M., 2262W 

Jorgensen, M. J., 2222F 

Jørgensen, N., 2041T, 

2707W 


Jørgensen, T., 2317T, 2347T 

Jorgenson, E., 2269T, 

3655F* 

Jorgez, C., 2979T* 

Jose, P., 245 

Josefsberg, S., 3162F 

Joseph, P., 1295W 

Joseph, V., 17, 998F, 999W, 

1159T* 

Joseph-George, A. M., 

3100F 

Joset, P., 2595W 

Joshi, A. D., 191 

Joshi, P., 1383T* 

Joshi, S., 3669F 

Jossic, F., 77, 403 

Jostins, L., 153, 354, 

1967F* 

Jouan, l., 2306F 

Jouan, L., 2342F* 

Jouanolle, A. M., 2126F 

Jouhilahti, E. M., 1139F* 

Joun, D., 1209W, 1246T*, 

3278W, 3714W 

Jourdain, A.-S., 3172F 

Jouzi, M., 3656W, 3703F 

Jovanovic, A., 772W 

Jowett, J., 1280W 

Jowett, J. B., 2308T 

Joy, J. B., 375 

Joyce, C., 455F 

Joyce, P. R., 3440T 

Joyner, A., 3670W 

Joyner, A. H., 1232F* 

Jozaki, K., 3432T, 3519T 

Ju, W., 1986W 

Ju, Y., 1248W, 1384F 

Ju, Y. S., 3259F, 3463T 

Juan, G., 1923W 

Juang, J., 1608T 

Juárez-Velázquez, R., 

1131W, 1141T* 

Judkins, T., 1021T 

Juengst, E. T., 1848W 

Jugurnauth-Little, S., 205, 

1011W 

Jula, A., 2173T, 2366F 

Julian, C. G., 3290W 

Julien, C., 2234F, 2945T 

Jumper, C., 2197T* 

Jun, G., 170, 176, 343, 385, 

1448W, 1476T, 1513F*, 

1545T, 2308T, 2339F, 

2528F*, 3664W 

Jun, H. S., 2712F* 

Juneblad, K., 2160W 

Jung, B., 3135W 

Jung, C. W., 1007F, 1103F 

Jung, E., 3103W 

Jung, H., 1051T 

Jung, J., 2828T, 3189W 

Jung, J. K., 846F 

Jung, Y., 1248W, 2273F* 

Junier, T., 3263W 

Junkins, H. A., 1566T, 

2108F, 2155T* 

Juo, S., 511F, 516W, 2357F 

Juo, S. H. H., 1586T 

Juonala, M., 2120F 

Jurado-Medina, L. S., 3362W 


Juretic, N., 2343W 

Just, J., 1941W 

Just, S., 1612T 

Justice, A., 1913F*, 2090F, 

2123F, 2147F, 2241W, 

3359W 

Justice, A. E., 1954T 

Justice, C. M., 1983W*, 

2151W, 3070F 

Justice, M., 389, 840F, 850F, 

2678T 

Juul, A., 2707W 

Juusola, J., 3512T 

Juyal, R. C., 2941W 

Jyothy, A., 224 

K 

Kääb, S., 86 

Kaad, P.-H., 889W 

Kaakinen, M., 190, 1432F, 

1597T*, 2162F 

Kaariainen, H., 1835W* 

Kaasik, K., 2667F* 

Kabakchiev, B., 42* 

Kabashi, E., 2820F 

Kabashima, K., 2911W 

Kabesch, M., 2102F, 2226W 

Kabra, M., 918T, 2844F, 

2941W 

Kabwama, S., 3494T 

Kacevska, M., 3460T 

Kachelries, K., 2252F 

Kachelries, K. E., 1997F 

Kaci, N., 763W 

Kaczmarek, L. K., 202 

Kadam, N. N., 3010T 

Kaderali, L., 1236W 

Kadivar, M., 754W 

Kadowaki, T., 2071T 

Kagami, M., 3499T 

Kaganovich, M., 525F*, 

604T 

Kahali, B., 2090F, 2241W, 

2275T 

Kähler, A. K., 2576F 

Kahn, J. P., 259 

Kahn, R. S., 431F, 2526W, 

2553W, 2661W, 3474T 

Kahn, S., 249 

Kahns, L., 3641F, 3662W 

Kähönen, M., 2097W, 2120F 

Kai, L., 3574W 

Kain, S., 3699F 

Kaiser, F. J., 204, 2958F 

Kaisermann, M., 1858F* 

Kaitila, O., 1015T 

Kaji, R., 52, 3221W, 3229W 

Kakavand, A., 2964F 

Kakiuchi, C., 2370W, 2435F, 

2652W 

Kaklamani, V., 1292W 

Kakourou, G., 2995T 

Kalari, K., 603T 

Kalari, K. R., 1247F 

Kaler, S., 235* 

Kaler, S. G., Session 10, 

791W, 2686W 

Kalia, S. S., 1825W 

Kalil, J., 1593T 

Kalin, N. H., 595F, 2413T 

Kalinsky, K., 1255T 

Kalish, J., 3082F* 

Kalkanoglu-Sivri, H. S., 

702T 

Kalkan Ucar, S., 3214F 

Kalkwarf, H. J., 812F 

Kallela, M., 2348F 

Kalli, K. R., 1238F, 3451T 

Kallioniemi, A., 1006T 

Kals, M., 3079W, 3460T* 

Kalscheuer, V. M., 2732T, 

3165W 

Kalyoncu, S., 3003T 

Kamalakaran, S., 3316F 

Kamali, N. P., 1675T 

Kamamoto, M., 1574W 

Kamarainen, O., 1874F 

Kamatani, N., 396, 1643T, 

2004W, 2174F 

Kamatani, Y., 1640T 

Kamate, M., 700T, 2803W 

Kamaya, M., 559F 

Kamberov, E., 3689F 

Kamboh, M. I., 343, 1647T, 

1672T, 1673T, 2099F, 

2125T, 2521T, 3078F 

Kambouris, M., 2713W, 

2728W, 2899W*, 3140F, 

3526W 

Kamel-Reid, S., 135 

Kamen, D. L., 1662T, 1979F, 

3371W 

Kaminker, J., 1539T 

Kaminska, A., 202, 2536T 

Kaminsky, E. B., 917W 

Kamio, Y., 2440T 

Kamiya, A., 2458T 

Kammerer, C., 1641T, 1650T 

Kammerer, C. M., 1672T, 

1673T, 1920W, 1921T 

Kamnasaran, D., 3060F, 

3071W, 3232F 

Kamp, A., 82 

Kamp, T. J., 2885T 

Kamphans, T., 3556W* 

Kamps, R., 708T 

Kamsteeg, E. J., 160, 216, 

1734W* 

Kamsteeg, E.-J., 214 

Kan, M., 93, 2336F, 2337W* 

Kan, S.-H., 695F*, 734T 

Kan, S.-h., 785W 

Kan, S. H., 697F 

Kan, Z., 1369F 

Kanaan, M., 2772F, 2919F* 

Kanafani, S., 3109W 

Kanagawa, M., 232 

Kaname, T., 2758W* 

Kanapin, A., 2939T 

Kanavakis, E., 84, 2995T 

Kanber, D., 392 

Kanchi, K., 1203W 

Kandoth, C., 1203W 

Kanesky, A., 858T 

Kanetsky, P. A., 211, 213 

Kang, A., 3223W 

Kang, C., 1248W 

Kang, E., 39, 1337W* 



Kang, E. Y., 1480F 

Kang, H., 662T, 733F*, 

1533T, 2769F 

Kang, H.-M., 170 

Kang, H. M., 108, 154, 

172, 177, 1398T, 1446T, 

1448W, 1510F*, 1525F, 

1545T, 3405W, 3664W 

Kang, J., 1248W 

Kang, J. H., 1887W, 2154W, 

2240F, 2263T 

Kang, K., 900T 

Kang, L., 3293W* 

Kang, M. S., 2093F 

Kang, S., 2660F 

Kang, S.-H., 898T 

Kang, S.-H. L., 432W, 952T, 

2395T 

Kang, Y., 2225F 

Kangas, A. J., 1623T 

Kangas, J., 1611T 

Kaniecki, K., 1731W 

Kanik, A., 1746W 

Kannan, R., 3240F 

Kannankeril, P. J., 247 

Kannengiesser, C., 29 

Kanninga, R., 1330F 

Kanno, E., 1984T 

Kannu, P., 1738W 

Kanoni, S., 106, 115*, 3453T 

Kant, S., 2701W, 3271F 

Kant, S. G., 131, 2925F 

Kantarci, S., 315, 950T* 

Kantesaria, M., 3370F 

Kanthaswamy, S., 595F 

Kao, A. H., 2099F 

Kao, C., 2229W*, 2492F, 

2524T 

Kao, L., 350 

Kao, L. W. H., 1381F 

Kao, W. H., 1932W 

Kao, W. H. L., 2210F 

Kao, Y., 2392T 

Kapalanga, J., 3518T* 

Kaper, F., 596W*, 942T, 

3619F 

Kaphingst, K. A., 316 

Kaplan, J., 324, 390, 2320T 

Kaplan, J. R., 2222F 

Kaplan, L. D., 2185T 

Kaplan, R. C., 2080T 

Kaplonski, N., 490W 

Kapoor, A., 305* 

Kapoor, M., 2582F*, 2598W 

Kapoor, R., 1134W, 1135T 

Kaprio, J., 252, 2022W, 

2110T, 2175W, 2256W, 

2350T 

Kaptoge, S., 109 

Kapur, R., 2890W 

Karaca, E., 360, 965W, 

2719W, 2881W, 2908W*, 

3222F 

Karacan, I., 2412W 

Karaer, K., 3195W 

Karafet, T. M., 2788W 

Karagas, M. R., 1091F, 

1453F 

Karagrigoriou, A., 3017T 

Karakas, M., 111, 2073W 


Karaleftheri, M., 2044T, 

3396T 

Karasik, D., 1334W 

Karatas, A. F., 3150F 

Karbaschi, M., 1270T* 

Karbowski, J., 3709F 

Karchin, R., 1731W, 2180F, 

2305T 

Karczeski, B. A., 3448T 

Karczewski, K., 551F, 568W 

Karczewski, K. J., 425F, 

562W*, 646T 

Kardia, S., 113 

Karfunkel, D., 2919F 

Karim, L., 708T 

Karimé, B., 2965W 

Karimi, A., 3020T 

Kariminejad, A., 2436W 

Kariminejad, M., 2436W 

Karimipoor, M., 1118F, 

1726W 

Kariuki, S. N., 2046W* 

Karjalainen, J., 108, 523F, 

1503T* 

Karki, C., 2020T 

Karkucak, M., 590W 

Karlberg, O., 567F, 3217W, 

3427T 

Karlin-Neumann, G., 3690W 

Karlinsky, L., 3185W 

Karlsen, T. H., 2101T 

Karlsson, R., 991T*, 1189T, 

1990T 

Karma, K., 2181W 

Karns, R., 1660T 

Karolak, J., 934T 

Karolchick, D., 3557F 

Karolchik, D., 3612W 

Karp, D., 1901F, 2284T 

Karp, N. A., 105 

Karpati, M., 2691F 

Karppinen, A., 1253F 

Karppinen, J., 1892F 

Karssen, L., 2107T 

Karssen, L. C., 459F 

Kart, H., 980T 

Kartmann, H., 86 

Karyadi, D. M., 2219F 

Karydas, A. M., 2639F 

Kasai, K., 2370W, 2435F, 

2652W 

Kasai, Y., 3724W 

Kasapcopur, O., 2841F 

Kasapçopur, O., 3132F 

Kasarskis, A., 3724W 

Kasberger, J., 2269T 

Kaschnitz, W., 2570F 

Kascsak, R., 2449T 

Kase, R., 132 

Kashef-Haghighi, D., 397 

Kashif, S., 2075F 

Kashihara, K., 2559W 

Kashimura, A., 598W* 

Kashiwagi, K., 1980W 

Kasiman, K., 1707T* 

Kask, M., 1140W* 

Kasowski, M., 551F, 3505T* 

Kasper, R. S., 632T 

Kastelein, J. J. P., 1604T 

Kasten, M., 200 

Kasterstein, E., 3002T 

Kasuga, H., 663F 

Kasvin-Felton, J., 1366F 

Kataja, V., 1125W 

Kataoka, N., 781W 

Kathiresan, S., 115, 117, 

170, 280, 350, 1331W, 

1677T, 2199W 

Katiyar, N., 2491T*, 3542W 

Kato, H., 2873T 

Kato, K., 1815W, 1848W* 

Kato, M., 3136F, 3326W 

Kato, N., 3284W 

Kato, R., 2963T 

Kato, T., 1549F, 2652W, 

3513T 

Katsanis, N., 3, 13, 98, 

310, 386, 2458T, 2955F, 

3296W 

Katsanis, S. H., 3 

Katsuno, M., 2472W 

Katsuya, T., 1987T 

Kattman, B. L., 1762W 

Katz, M., 784W 

Katz, M. L., 2805F, 2817F 

Katz, M. S., 306 

Katz-Jaffe, M. G., 851F*, 

2968T 

Kaudwell, G., 1304W 

Kauff, N., 1841W 

Kauffman, T., 1869F 

Kauffman, W. B., 1689T 

Kauffmann, F., 1461T, 

1941W 

Kaufman, D., Session 9, 

1829W, 2625W 

Kaufman, K., 1901F 

Kaufman, K. M., 2046W, 

3371W 

Kaufmann, S., 1238F 

Kaukinen, K., 2023T, 2177F 

Kaul, N., 1993T 

Kaunisto, M. A., 2348F 

Kaur, G., 2941W 

Kaur, K., 133 

Kaur, M., 861W, 3058F 

Kaur, N., 1890W* 

Kaur, P., 410 

Kaur, R., 1891T* 

Kaur, S., 1026W 

Kaur, V., 50 

Kausar, T., 2959W 

Kauwe, J. S. K., 340*, 

3643F 

Kavakli, I. H., 2592W 

Kavalla, R., 2056T 

Kavitha, H., 1044W 

Kawada, A., 3146F 

Kawaguchi, T., 2174F 

Kawahara, N., 1290T 

Kawakami, H., 3229W 

Kawakami, K., 309 

Kawal, P., 1177T* 

Kawame, A., 2697F 

Kawame, H., 3043W 

Kawamura, H., 2656T 

Kawamura, Y., 663F, 2370W 

Kawano, Y., 2400W 

Kawarai, T., 52 

Kawasawa, Y., 2444F 

Kawashima, M., 1831W, 

2349W, 3301F* 

Kay, C., 265 

Kay, D. M., 2151W 

Kay, J., 230 

Kay, T., 2916F 

Kaya, H., 590W 

Kayabasi, C., 1178F* 

Kayama, T., 1549F 

Kaye, F. J., 1162T 

Kaye, J., 1848W 

Kaye, J. A., 2643W 

Kayserili, H., 1, 214, 216 

Kayserilli, H., 2863W 

Kazan, H., 1551T 

Kazazian, H. H., 336, 1229F 

Kazkaz, L. A., 1490W 

Kazma, R., 1250F, 1469W*, 

1496W, 3655F 

kConFab, 1224W 

kConFab, BCFR, 1213T 

kConFab Investigators, 

AOCS Group, 1492F 

Keane, C., 1042T 

Kearney, H. M., 958T 

Kearns, M., 1506T 

Kearns, W. G., 78, 2998T 

Keating, B., 1659T, 2063F 

Keating, B. J., 1606T 

Keating, S., 2971T, 3075W 

Keavney, B., 219 

Keddache, M., 573F, 690T 

Keegan, C. E., 313 

Keegan, L. P., 577F 

Keen, K., 123 

Keenan, B., 380 

Keenan, B. T., 2250W, 

3417T, 3450T 

Keenan, K., 1322W, 2953W 

Keene, K., 1971W 

Keene, K. L., 1662T 

Keeney, J. G., 433F, 835F* 

Keerthikumar, S., 3316F 

Kefer, N., 515F 

Kehdy, F., 1119W, 3325F 

Kehl, H. G., 2759T 

Kehrer-Sawatzki, H., 939W, 

2791W 

Keikhaei, B., 2714T 

Keil, T., 2102F 

Keildson, S., 44, 583F, 

2187W*, 3441T 

Keinan, A., 183*, 187 

Keith, M. E., 1192T* 

Kekis, M., 2696T 

Kelempisioti, A., 1892F* 

Kellam, P., 1507F, 2163W 

Keller, A., 186, 515F, 2368T 

Keller, M., 2722W 

Keller, M. A., 632T 

Keller, M. C., 2239T 

Kelley, J. L., 285 

Kelley, R. I., 105 

Kelliher, E., 322 

Kellis, M., Session 5, 380, 

3291T, 3417T, 3450T 

Kelly, E., 1190F 

Kelly, J., 953W, 2284T 

Kelly, J. A., 529F, 1901F, 

1979F, 2188T

Kelly, J. C., 945W 

Kelsey, K. T., 3629F 

Kelsh, R. N., 363 

Kelso, J., 3274F 

Kemmotsu, Y., 1631T 

Kemp, J., 1567F, 2081F, 

2164T 

Kemp, J. P., 1318F, 1528F, 

1583W, 2169W* 

Kempers, M., 128 

Kempers, M. J. E., 80, 

955W 

Kenan, B., 624T 

Kendall, F. D., 330 

Kendall, J., 2587T 

Kendler, K., 3512T 

Kendler, K. S., 2500T, 

2504F, 2594F, 2599T 

Keni, J., 3059W 

Kennedy, C., 1729W, 

3680W 

Kennedy, C. J., 3640W* 

Kennedy, D., 784W 

Kennedy, J., 628T 

Kennedy, J. L., 612T, 

2376W, 2608T, 2657F 

Kennedy, M. A., 3440T* 

Kennedy, R. B., 1426F 

Kennedy, S. H., 2133W 

Kennedy-Darling, J., 1269W 

Kennerknecht, I., 2861T 

Kennerson, M., 2742F* 

Kenney, M. C., 1963T 

Kenny, E., 3362W, 3563F 

Kenny, E. E., 293, 3360T*, 

3380W, 3390T 

Kent, A., 1848W 

Kent, J., 414W, 673F, 

1280W*, 3612W 

Kent, J. W., 1923W 

Kent, J. W., Jr., 1406W 

Kent, M., 2805F 

Kent, W. J., 3557F* 

Kenyon, C., Session 26 

Keogh, J., 43 

Keong, G. T., 1117T 

Keppler-Noreuil, K. M., 82, 

404 

Keravnou, A., 3017T 

Kere, J., 154, 1976F, 3631F 

Keren, B., 889W, 2770W 

Kerkhof, M., 2167T 

Kerkis, I., 1102T 

Kerlikowske, K., 1576F 

Kerns, S., 1309F* 

Kerr, B., 2852T 

Kerr, D., 1072T 

Kerr, E., 142 

Kerr, K. F., 1661T 

Kerr, M., 2821W 

Kerscher, T., 2102F 

Kershberg, H., 1866F* 

Kersten, F. J., 1 

Keshavan, R., 440W* 

Keshava Prasad, T. S., 

3316F 

Kesler, J., 949W 

Kesselman, C., 3587F 

Kessner, D., 476W 

Kessner, D. E., 3626W* 


Kestelyn, P. G., 2927T 

Ketterer, E. A., 2329T 

Kettunen, J., 584W, 656T*, 

1284T, 1503T, 2110T, 

2173T 

Keupp, K., 3214F 

Keve, S., 784W 

Kevelam, S. H., 2848W 

Keydar, I., 2875W 

Keys, D., 1146W, 1195T, 

3725F 

Keyser, M., 3671F* 

Khabbaz, K., 3469T 

Khabour, O., 855W*, 856T 

Khachane, A. N., 3442T 

Khadem, F., 3501T 

Khademian, H., 682T* 

Khader, M., 855W 

Khaldi, K., 2306F 

Khaledifar, A., 1596T 

Khalfallah, O., 817F 

Khalil, S., 2302T 

Khan, B. K., 2639F 

Khan, J., 1259F 

Khan, J. C., 2072F 

Khan, M., 865W 

Khan, N., 2680W 

Khan, S., 209, 1265F, 

2949F* 

Khanduzi, S. R. K., 1096T 

KhanKhanian, P., 2113T, 

3330T 

Khanna, H., 2680W 

Khanna, R., 732T 

Khantane, S., 2674W 

Khare, M., 3144F, 3213W* 

Kharrazi, M., 3238F 

Khatir, A. S., 1615T 

Khatri, S. M., 820F 

Khazen, G., 3349F 

Khazraee, H., 2008T 

Khazraei, H., 1421W 

Khil, P., 417F, 592W 

Kho, A., 811F, 2098T, 

3622W 

Kho, A. L., 2945T 

Kho, J., 165 

Kho, M., 1656T* 

Khokher, Z., 682T 

Kholodov, M., 3582W 

Khoo, S. J., 2491T 

Khor, C. C., 2094W, 3284W, 

3339T 

Khosroheidari, M., 1953W 

Ki, A., 963W 

Kiani, S., 3700W 

Kibar, Z., 850F, 1910F, 

2075F, 2692W 

Kibel, A., 1210T 

Kibriya, M., 2025W 

Kida, K., 726T 

Kida, M., 1092W 

Kida, Y., 598W, 599F* 

Kidambi, A., 2742F 

Kidd, A., 967W 

Kidd, J., 285 

Kidd, J. M., 371, 3352F, 

3361F, 3368W, 3411W 

Kidd, K. K., 3313F 

Kidd, L., 1339F 


Kido, T., 1179W*, 1831W* 

Kiefer, A., 1825W 

Kiefer, A. K., 106, 114, 626T, 

1017W, 1782W, 2087F, 

2089T, 2100W, 2115W*, 

2127W, 2149T 

Kiehl, T.-R., 2428T 

Kiel, D. P., 109 

Kielbasa, S., 298 

Kielty, C., 2852T 

Kiemeney, L. A., 106, 431F 

Kiemeney, L. A. L. M., 87 

Kievit, W., 621T 

Kiezun, A., 25* 

Kikuchi, H., 2400W, 2923W 

Kilambi, K. P., 308 

Kilaru, V., 1422T, 3480T 

Kilembe, W., 36 

Killary, A., 1095W 

Kilpeläinen, T. O., 2116T* 

Kilpinen, H., 415F 

Kim, A., 2723T 

Kim, A. S., 838F 

Kim, B., 389*, 2518T, 2678T, 

3462T 

Kim, B. J., 840F 

Kim, C., 319, 895W, 896T, 

899W, 1915T, 2121W, 

2229W, 2252F, 2492F, 

2514W, 2785W, 2856F, 

2872W, 2892F*, 3573F 

Kim, C. A., 2232W, 2863W, 

3152F, 3160F, 3184F, 

3250F 

Kim, C. E., 812F, 1996T, 

1997F 

Kim, D., 2723T 

Kim, D. H., 1007F, 1103F 

Kim, D. K., 3223W 

Kim, D. S. K., 2443T* 

Kim, E., 1608T 

Kim, G. H., 698T 

Kim, G.-H., 3227W* 

Kim, H., 589F, 947W, 1243T, 

1384F*, 2117F*, 2117F, 

2200T, 2221T, 3103W, 

3223W, 3473T, 3485T 

Kim, H.-G., 2732T* 

Kim, H. S., 3423T 

Kim, I.-K.., 385 

Kim, I. K., 1305T 

Kim, J., 3, 269, 678T, 866T*, 

866T, 867W, 947W, 

1248W, 1384F, 1385W*, 

2151W, 2200T, 2437T, 

2518T, 2828T*, 3112F, 

3151W, 3178F, 3423T, 

3462T, 3473T 

Kim, J. C., 706T*, 719F 

Kim, J. H., 470W*, 1975T*, 

3607F 

Kim, J.-I., 1931F 

Kim, J. I., 3463T 

Kim, J.-M., 3227W 

Kim, J.-W., 1007F, 1103F 

Kim, J. Y., 846F* 

Kim, K., 66, 1656T, 2437T, 

3462T 

Kim, K. J., 3180F 

Kim, K. M., 698T 

Kim, M., 900T, 947W, 

1230W, 2715F, 3008T, 

3461T, 3567F 

Kim, M. O., 846F 

Kim, P. M., 1551T 

Kim, S., 488W, 1007F, 

1103F*, 1103F, 2511W, 

2518T, 3008T, 3151W, 

3461T* 

Kim, S.-H., 1007F, 1103F 

Kim, S. H., 846F 

Kim, S. J., 863W 

Kim, S. K., 3014T 

Kim, S. Y., 3607F 

Kim, T., 1551T 

Kim, T. K., 452W 

Kim, W., 1338T 

Kim, W. R., 2118W* 

Kim, W. Y., 1046F 

Kim, Y., 488W*, 947W, 

999W, 1248W, 1347T*, 

1363F, 1396F, 2060F, 

2151W, 2468F, 2715F, 

2828T, 3178F*, 3444T, 

3462T, 3616W 

Kim, Y. J., 269 

Kim, Y.-M., 3227W 

Kim, Y. M., 698T 

Kimani, J., 3276T 

Kimball, A., 861W 

Kimberly, R. P., 306, 1979F, 

2046W, 3371W 

Kim-Howard, X., 307, 

1572T* 

Kimmel, M., 3273T, 3549F 

Kimonis, V., 1791W, 2151W, 

3249W 

Kimonis, V. E., 757W, 3144F, 

3213W 

Kimura, M., 1574W, 2747T* 

Kimura, R., 1327F 

King, C. R., 2333F 

King, J. S., Session 79 

King, M.-C., Session 1, 26, 

263, 287, 1089W, 1228T, 

2600F, 2756T, 1226F, 

2929W 

King, O. D., 2962W 

King, R., 3321T 

King, R. A., 261, 2602T 

Kingery, M., 239 

Kingman, G., 3562W 

Kingsbury, Z., 366, 1238F, 

3663F 

Kingsmore, S. F., Session 73, 

366, 2793F, 2894T 

Kingston, H., 2852T 

Kingwattanakul, P., 2006F 

Kini, A., 2492F 

Kini, U., 131 

Kinnamon, D., 1544W 

Kinnamon, D. D., 2603F 

Kinney, D., 1746W* 

Kinnula, V., 1114T 

Kinoshita, S., 2129F 

Kinoshita, T., 298 

Kinross, C., 3668W* 

Kinsella, M., 1043F 

Kinsler, V. A., 303* 

Kinstlinger, N., 507F 



Kipps, T. J., 395 

Kirby, A., 322*, 1725W 

Kirby, J., 348 

Kircher, M., 3274F 

Kirchhoff, M., 889W 

Kirchhoff, T., 208, 1159T 

Kirectepe, A. K., 2841F* 

Kirel, B., 2704W 

Kiridly, J. F., 306 

Kirillova, I., 251 

Kirk, A., 2779W 

Kirk, E., 131 

Kirk, E. P., 217 

Kirk, K., 1147T 

Kirkup, V., 3612W 

Kirmani, S., 2575T 

Kirmes, I., 849F 

Kirov, G., 1325W, 2576F 

Kirsanov, K., 1180T*, 1181F 

Kirwin, S. M., 2855T 

Kiryiya, M., 1638T 

Kiryluk, K., 845F 

Kishi, F., 1631T 

Kishino, H., 2440T 

Kishita, Y., 2873T 

Kiss, A., 2761W 

Kisselev, S., 442W, 1898F 

Kissell, D., 1764W 

Kitabayashi, N., 1100F 

Kitaichi, K., 2647T 

Kitajima, H., 3436T* 

Kitamura, Y., 2009F 

Kitaoka, T., 1684T 

Kitchen, R., 2444F 

Kitchens, C. S., 2330F 

Kitsiou, S., 84, 2937F 

Kittles, R. A., 1009T, 2014T*, 

2087F, 2202W, 2281T 

Kitts, A., 3582W 

Kitzis, A., 77 

Kitzman, J., 311 

Kitzman, J. O., 74*, 94, 

1014W 

Kivimaki, M., 1621T 

Kivirikko, S., 2002T 

Kivisild, T., 3322F 

Klaften, M., 2922F 

Klambauer, G., 1483F, 

1486F 

Klanderman, B., 638T 

Klar, J., 2920W* 

Klautau-Guimarães, M. N., 

3375T 

Klebe, S., 29 

Kleber, M. E., 2116T 

Kleefstra, T., 97, 100, 102, 

125, 3159W 

Klei, L., 553F 

Kleiber, M. L., 378 

Klein, A. P., 3616W 

Klein, B., 2041T 

Klein, B. E., 2109W 

Klein, C., 200, 204, 672T 

Klein, D., 633T, 635T 

Klein, E., 2779W 

Klein, H.-G., 3539F 

Klein, M. L., 2183F 

Klein, O. D., 2151W, 3242F 

Klein, R., 208, 2041T, 

2109W 


Klein, R. J., 1100F, 1159T 

Klein, T. E., 633T, 635T, 646T 

Kleinhanz, R., 2220W 

Kleinheinz, J., 2759T 

Klein-Hitpass, L., 3524T 

Kleinman, J., 2444F 

Kleinman, J. E., 260, 2622W 

Klemm, S., 3037W 

Klemm, T., 2328W 

Klengel, T., 1422T, 2483F 

Klepacka, D., 905W 

Klepp, O., 991T 

Kleta, R., 199 

Klevit, R. E., 2929W 

Klimentidis, Y., 1460W 

Klimentidis, Y. C., 2201F* 

Kline, A. D., 861W* 

Kline, J., 1600T 

Klinedinst, D., 310 

Klink, B., 1236W 

Klobus, A. B., 704T 

Klocke, B., 3536W 

Kloosterman, W., 400, 423F, 

459F, 672T 

Kloosterman, W. P., 217, 

2886F 

Kloske, D. A., 1245W, 

3527F, 3687F 

Kloss-Brandstätter, A., 

3319F 

Klotzle, B., 596W, 3451T 

Klovins, J., 608T* 

Kluck, N., 106 

Kluemper, G., 2243F 

Kluger, Y., 579F 

Klugman, S., 1793W, 3022T 

Kluijt, I., 3200F 

Klünemann, H. H., 684T 

Klungel, O. H., 243, 609T 

Kluwe, L., 2791W 

Kmoch, S., 322, 752T 

Knapp, M., 2088W, 3333T 

Knappskog, P. M., 2451W 

Knauf, F., 2568W 

Knekt, P., 2110T 

Knight, J., 154, 628T, 

1927T*, 2376W 

Knight, J. C., 373, 563F 

Knight, S. J., 218 

Knight, S. J. L., 219 

Knight-Madden, J., 2043W 

Knoener, R., 1269W 

Knoers, N. V., 217, 3164F 

Knoers, N. V. A. M., 216, 

2848W, 2886F 

Knoll, J. H., 3672W 

Knoppers, B. M., 1823W, 

1848W 

Knower, W., 2038T 

Knowler, W., 249 

Knowler, W. C., 1300F, 

1953W, 2018F, 2124W 

Knowles, D., 1440T 

Knowles, J., 2444F 

Knowles, J. A., 2564F, 3587F 

Knowles, J. W., 1624T 

Knowles, M., 2953W 

Knowles, M. R., 171, 406, 

1322W, 2851W 

Knowlton, A. A., 1625T 

Knowlton, M. N., 2675T 

Knudsen, B., 3641F, 3662W 

Knutsen, R., 1699T 

Knuutila, S., 2888T 

Ko, A., 278 

Ko, D. C., 2186F* 

Ko, J., 877W, 3204F 

Ko, J. M., 787W, 3180F* 

Ko, W., 3303T 

Kobayashi, G. S., 814F* 

Kobayashi, K., 232, 2550W, 

2963T*, 3513T 

Kobayashi, M., 3230F 

Kobayashi, Y., 1771W 

Kobes, S., 1953W, 2038T, 

2124W 

Koboldt, D., 1203W, 1210T 

Kobor, M., 3734W 

Kobrynski, L. J., 2312F 

Kobzik, L., 811F 

Kocak, M., 3480T 

Koch, C., 328 

Koch, M., 328 

Kochi, Y., 1984T, 2004W 

Kockum, I., 1455T, 1939T, 

2276F 

Kodama, H., 2836W 

Kodama, K., 1462F 

Kodaman, N., 3388F* 

Kodati, V. L., 1893W 

Köehler, S., 2725W 

Koellinger, P. D., 2505W 

Koen, L., 644T 

Koenekoop, R., 1779W 

Koenen, K., 435F 

Koenig, B., Session 25 

Koenig, B. A., 1849W 

Koenig, M. K., 1761W 

Koesterer, R., 2503T 

Koestler, D., 3465T 

Koestler, D. C., 3451T, 

3629F* 

Koetters, T., 1965W 

Koga, A., 468W 

Kogawa, R., 2861T 

Kogevinas, M., 1091F 

Kogon, B., 1679T 

Koh, D. X. R., 3267T 

Koh, I., 3462T* 

Kohaar, I., 1091F, 1092W*, 

1094F 

Kohane, I. S., 1769W, 

1836F, 1843W, 3635F 

Kohda, K., 2370W 

Kohda, M., 2873T*, 2923W 

Kohl, I., 895W 

Kohl, M., 2315F 

Kohlbacher, O., 1200W, 

1233W 

Kohli, A., 493F 

Kohli, M. A., 341, 2583W, 

2586W, 2637W* 

Kohli, M. M., 347 

Kohli, S., 1720W 

Kohlmann, W., 1783W 

Kohno, Y., 2294F 

Kohut, A., 3038F 

Koiffmann, C., 895W 

Koike, A., 2130W, 2349W*, 

2496W 

Koike, S., 2435F 

Koivisto, K., 2350T 

Koivunen, P., 3297T 

Koizumi, A., 589F 

Koizumi, H., 52 

Kojima, K., 2588F* 

Kojima, M., 2440T 

Kojima, R., 559F 

Kok, C., 2007W 

Kok, J. N., 1436W 

Kokabee, L., 1118F* 

Kokabee, M., 1118F 

Kokocinski, F., 506W 

Koks, S., 154 

Kokubo, Y., 1730W, 2559W 

Kol, N., 2919F 

Kolberg, J. A., 2347T 

Kolb-Kokocinski, A., 2044T, 

3396T 

Kolde, R., 1163F 

Kolder, I. C. R. M., 35* 

Kolek, V., 2103W 

Koller, D., 368, 369, 2136W, 

2372F 

Kolodkin, A. L., 308 

Kolomietz, E., 460W 

Kolonel, L. N., 2202W 

Kolundzija, A. B., 1957T 

Komarovsky, D., 3002T 

Komorowski, R., 1667T 

Komosa, M., 1046F, 1047W, 

1050W 

Komski, A., 3002T 

Kondkar, A., 2997T* 

Kondo, E., 2963T 

Kondo, S., 2264F 

Kondo, T., 1795W 

Kondoh, T., 2891T 

Kondova, I., 3266W 

Kone, A., 2255F 

Konecny, G., 3451T 

Konen, O., 105 

Kong, A., Session 75, 2279F 

Kong, B., 1246T, 3278W, 

3714W 

Kong, B. S. G., 1209W* 

Kong, L., 3604W 

Kong, S., 3635F* 

Kong, S. W., 1769W 

Kong, X., 2249F 

Konialis, C., 2902W 

Konidari, I., 9, 270, 2049W*, 

2318F, 2378F, 2508W, 

2572T, 2603F, 2614T 

Konigorski, S., 3490T 

Konkashbaev, A., 2197T, 

2333F, 3735F 

Konkel, M. K., 3270T* 

Konstantopoulou, I., 1191W, 

1228T 

Kontula, K., 2023T 

Koolen, D. A., 97 

Koon, S. J., 1909T 

Kooner, J. S., 110, 115, 

3435T 

Kooperberg, C., 170, 1408F, 

1437T, 1608T, 1925F, 

2131T 

Koornhof, P., 1808F 

Kooshavar, D., 2952F*

Kooy, F., 2527T* 

Kopajtich, R., 699F* 

Kopp, J., 2073W 

Koppelman, G., 2167T, 

2168F 

Korabecna, M., 3437T* 

Koralnik, I. J., 2561F 

Koran, M., 2532W* 

Korbel, J., 551F 

Korbonits, M., 2708T 

Korean Autism Genetic 

Study Consortium, 

2518T 

Koreeda, Y., 2601W 

Koren, A., 480W 

Korenaga, M., 2130W 

Korenberg, J., 538W 

Korenberg, J. R., 2529W* 

Korendowych, E., 2160W 

Korf, I., 552W, 3479T 

Korinthenberg, R., 2812W 

Kormanik, K., 662T* 

Kornak, U., 129 

Kornberg, Z., 2779W 

Korneliussen, T., 2311T, 

3312T 

Kornreich, R., 1777W, 

3724W 

Korponay-Szabo, I., 2177F 

Kors, J. A., 2193W 

Korshunov, A., 1182W 

Korzh, V., 3047W 

Kos, M. Z., 2589W*, 2651F 

Kosaihira, S., 1697T 

Kosaki, K., 2882T, 3093W, 

3105W 

Kosaki, R., 2882T, 3093W* 

Koscielska, K. A., 2632T* 

Kosho, T., 3043W 

Kosho, T., 2697F, 3230F* 

Koskelainen, T., 1892F 

Koskinen, S., 1835W, 2350T 

Kosma, V.-M., 1114T, 

1125W 

Kosova, B., 1025F 

Kosova, G., 2327F* 

Kosoy, R., 2360F 

Kostem, E., 1386T* 

Koster, R., 213 

Kostiha, B., 2833W 

Kosuga, M., 726T* 

Kotecha, U., 1720W, 2754F 

Kotecha, U. H., 3236F* 

Kote-Jarai, Z., 205, 1011W*, 

1109F, 1148F 

Kotkiewicz, H., 465F 

Kottgen, A., 1932W 

Kotti, S., 609T 

Koudijs, M., 400 

Koumbaris, G., 3017T 

Kousi, M., 3 

Koutras, C., 2528F 

Kovač, J., 2688F 

Kovac, V., 714T, 785W 

Kovacevic, L., 3286F 

Kovacevic, S., 3286F 

Kovach, J. L., 2028W, 

2318F 

Kovacs, B., 520W 

Koval, V., 459F, 3608W* 


Kowall, N., 2437T 

Kowalski, T. W., 2270F 

Kowgier, M., 2167T* 

Kozak, K., 1093T 

Kozan, S., 1136F 

Kozel, B., 1699T* 

Kozhaya, L., 713F 

Kozicz, T., 672T 

Kozlov, S., 2914W 

Kozlowski, P., 1745W 

Kozol, R., 2445W 

Kozubek, J., 385 

Kozyrskyj, A. L., 1465F 

Kraaij, R., 3608W 

Kraft, P., 191, 205, 318, 

356*, 1148F, 1150T, 

1331W, 1390F, 3413W 

Krahn, T., 3377W 

Kraig, E., 1406W 

Kraja, A. T., 1641T*, 1650T 

Krakow, D., 838F, 2857W, 

2874F 

Krakow, D. A., 2740W 

Kral, A., 2114F 

Kral, A. H., 2170T 

Kral, B. G., 1652T 

Kramer, J., 2598W, 2666T 

Kramer, M., 2180F, 2590T, 

3316F 

Krantz, I., 3038F, 3058F 

Krantz, I. D., 861W, 2695W, 

2958F 

Kranzler, H., 2207F, 2497T 

Kranzler, H. R., 2503T, 

2621F 

Krapels, I. P. C., 1711T* 

Krarup, H., 2862F 

Krasnow, R., 642T 

Kratochvilova, H., 752T 

Kratter, I. H., 2643W 

Kratz, C., 213 

Kratz, C. P., 132 

Kraus, C., 3235W 

Kraus, W., 3541F 

Kraus, W. E., 1444F, 1594T, 

1636T 

Krause, A., 1794W 

Krauss, R., 1442W 

Krauss, R. M., 601T, 615T 

Krawczak, M., 580W, 1943F, 

3364F, 3402T 

Krawisz, A., 2479T 

Krawitz, P. M., 298*, 3556W 

Kreeftmeijer, J., 400 

Kreft, M., 2848W 

Kreger, K., 1829W 

Kreiger, P. A., 33 

Kreimer, A., 193* 

Kreiner-Møller, E., 2167T 

Kremer, H., 1, 58*, 59, 

2955F 

Kremmer, E., 86 

Krepischi, A. C., 891W, 

903W, 919W 

Krepischi, A. C. V., 439F 

Krepkiy, V., 1152W 

Kress, W., 2681T 

Kretzler, M., 3405W 

Kretzschmar, W., 3306T 

Krex, D., 1236W 


Krieger, H., 1343W, 2352W 

Krieger, J. E., 636T, 1629T 

Kriek, M., 2701W 

Kringen, M. K., 576W, 643T* 

Krinsky-McHale, S., 859W 

Krintel, S., 621T 

Kriouele, Y., 3246F 

Krishnamurthi, S., 3139W* 

Krishnappa, R. S., 1957T 

Krishnaswami, B., 1232F 

Kristiansen, K., 2311T 

Kristiansen, W., 991T 

Kristiansson, K., 252, 

2116T, 2132F 

Kristoffersson, U., 1877F 

Kristofice, M., 885W 

Kroes, T., 97 

Kroetz, D. L., 2258F 

Krogh, V., 1712T 

Kroisel, P., 126 

Kroisel, P. M., 3111W, 

3116F* 

Krolewski, A. S., 2313W 

Krom, Y., 2840T 

Kronenberg, F., 1595T, 

3319F 

Kronenberg, Z., 195, 3633F* 

Kronengold, J., 202 

Kronick, J., 720T 

Kruczek, P., 2966T 

Krueger, G. G., 1952F 

Krug, T., 2085W 

Krüger, U., 298 

Kruglyak, S., 596W 

Kruisselbrink, T. M., 2906T 

Krumbiegel, M., 3235W 

Krumina, Z., 672T 

Krumm, N., 10, 12*, 93, 

2897T 

Krumsiek, J., 2226W 

Krupp, D., 2340W* 

Krupp, L., 1924T 

Kruppa, J., 275 

Krus, U., 47 

Kruse, E., 507F 

Kruszka, P., 721F* 

Kru˚ tová, M., 2745F 

Krylov, V., 2831T 

Krystal, J. H., 2621F 

Krystkowiak, P., 345 

Kryukov, G., 25 

Ku, C. R., 739F 

Kuang, Q., 1108T 

Kuang, Y., 2985T 

Kuang, Y. L., 615T 

Kubaski, F., 747F* 

Kubisch, C., 1, 105 

Kubly, V. J., 1909T 

Kubo, M., 396, 627T, 1552F, 

1631T, 1643T, 2004W, 

2051F, 2071T, 2174F, 

2294F, 2506T 

Kubota, I., 1549F 

Kubota, T., 2835F* 

Kuchenbaecker, K., 208* 

Kuchenbaecker, K. B., 207 

Kuchinsky, A., 3588W 

Kuchroo, M., 2250W 

Kucinskas, V., 920T* 

Kučinskas, V., 653T 

Kucinskiene, Z., 920T 

Kučinskiene · , Z. A., 653T 

Kuczynski, E., 3030T 

Kudoh, J., 2882T, 2911W* 

Kuechler, A., 2760F 

Kuersten, S., 585F, 3718W 

Kuga, A., 232 

Kugathasan, S., 1381F, 

2312F 

Kuh, D., 2282F 

Kuhn, J., 3214F 

Kuhn, R., 3557F 

Kuipers, E., 2141F 

Kuit, B., 809F 

Kuivenhoven, J. A., 2205W 

Kujala, E., 1835W 

Kujala, P., 1000T 

Kujala, U. M., 2134T 

Kukreti, R., 607T 

Kukshal, P., 2382W* 

Kukull, W. A., 343 

Kukurba, K., 568W 

Kukurba, K. R., 527F* 

Kulesha, E., 3636W 

Kuliev, A., 251* 

Kulikowski, L., 896T*, 899W 

Kulikowski, L. D., 3045W 

Kulkarni, H., 3434T 

Kulkarni, R., 2330F 

Kulkarni, S., 912T, 1028F 

Kulkarni, V., 975W, 3726W 

Kulle, B., 1581T 

Kuller, L., 2080T 

Kullo, I., 2098T, 3622W 

Kullo, I. J., 618T, 1312F, 

1447F 

Kulminski, A., 1991F, 2027F, 

2194T* 

Kulzer, J. R., 304* 

Kumabe, M., 2046W 

Kumagai, T., 2748F 

Kumanduri, V., 497F 

Kumano, K., 233 

Kumanovics, A., 495F, 

2720T 

Kumar, A., 10, 1188W, 

1519F*, 2446T, 2776W* 

Kumar, A. A., 2046W 

Kumar, G., 3442T, 3452T 

Kumar, J., 1990T* 

Kumar, P., 3316F 

Kumar, R., 1177T, 2700F 

Kumar, S., 533F*, 1137W, 

2308T, 2339F, 2859F*, 

3316F* 

Kumar, V., 429F, 1330F, 

2088W, 2733F* 

Kumar, Y., 3701F 

Kumaraguruparan, G., 

3558W* 

Kumari, M., 1621T 

Kumasaka, N., 2174F, 

3507T* 

Kummar, S., 1068W 

Kundaje, A., 3505T 

Kuningas, M., 2366F 

Kunkel, L. M., 1836F, 

2962W 

Kunst, H. P. M., 58, 1220F 

Kunstmann, E., 2356T 



Kuo, C., 1570F* 

Kuo, C. L., 2768T 

Kuo, C.-L., 1364W 

Kuo, D. S., 2684T 

Kuo, J. Z., 130, 2153F 

Kuo, P., 2000F, 2524T 

Kuo, W., 1249T 

Kuo, Y., 3467T 

Kupershmidt, I., 1183T, 

1190F 

Kupert, E. Y., 1454W 

Kuracha, M. R., 2731W 

Kurahashi, H., 232, 475F 

Kural, D., 3395W 

Kurapati, R., 3730W 

Kurbatova, N., 567F, 582W 

Kurdoglu, A. A., 3215W 

Kure, S., 1290T 

Kurek, M., 2102F 

Kurian, M. A., 1773W 

Kurihara, I., 76 

Kurita, T., 2569T 

Kuroda, Y., 2891T, 3051W* 

Kuroiwa, Y., 1290T 

Kurokawa, M., 233 

Kurosawa, K., 1795W, 

2758W, 2891T*, 3051W, 

3091W, 3094F 

Kurppa, K., 2023T, 2177F 

Kurtzberg, J., 3 

Kury, S., 3066F 

Küry, S., 1204T 

Kussmann, J., 3101W 

Kuster, J., 1958F 

Kusters, B., 1220F 

Kustra, R., 3490T 

Kusumawhardani, A. A. A. 

A., 2407T 

Kusunoki, N., 729F 

Kutalik, Z., 62, 108, 299, 

1281T, 1387F*, 2116T 

Kutilova, M., 601T 

Kutkowska, A., 216 

Kutlar, A., 2247W 

Kutsche, K., 2810T 

Kutta, A., 814F 

Kutuk, O., 1746W 

Kuusisto, J., 46, 2256W 

Kuusisto, K. M., 992F* 

Kuwahara, M., 2911W 

Kuzawa, C. W., 2036F 

Kuzuhara, S., 1730W, 

2559W 

Kvale, M., 96, 112*, 421F, 

2513F, 3342T, 3383W 

Kvale, M. N., 118, 2140T 

Kvist, U., 3032T 

Kwak, Y., 2518T 

Kwan, A., 362, 377 

Kwan, J., 1093T, 3559F* 

Kwan, S., 21 

Kwan, T., 256, 569F, 

3439T 

Kwok, P., 112, 118, 2140T, 

2513F, 3342T 

Kwok, P. Y., 620T, 1694T, 

3383W 

Kwok, P.-Y., 421F, 2926W 

Kwok, S. K., 3158F 

Kwon, A., 947W*, 2715F 


Kwon, M. S., 1385W 

Kwon, O.-S., 1931F 

Kwong, A., 177, 981W, 

3664W* 

Kyaw, E. E. P., 3034T 

Kypri, E., 3017T 

Kyriakou, S., 3017T 

Kyriazopoulou- 

Panagiotopoulou, S., 

3505T 

L 

Laakman, A., 759W 

Laakso, A., 1253F 

Laakso, E. O., 47 

Laakso, M., 46, 88, 1117T, 

1608T, 1624T, 2256W, 

3455T 

Läärä, E., 1597T 

Labalme, A., 944T 

Labate, A., 2766F, 2780T 

Labelle-Dumais, C., 1689T, 

2684T 

Laberge, A. M., 1733W, 

1784W* 

Labonte, B., 2482T 

Labonté, B., 3470T 

Laborde, S., 716T 

Labrèze, C., 83 

Labrie, V., 3490T* 

Labuda, D., 1478W, 2790F 

Lacassie, Y., 3057W* 

Lacbawan, L., 693F 

Lacerenza, D., 550W 

Lach, F., 999W 

Lachance, J., 283* 

Lachance, S., 850F* 

La Chance Touchette, P., 

2306F 

Lachenko, S., 302 

Lacher, M., 1159T 

Lackner, C., 1115F 

Lackner, K. J., 1669T 

Lacombe, D., 124, 473F, 

716T, 841F, 3172F 

Lacorte, L., 1119W* 

Lacoste, C., 2536T 

Lacour, A., 1423F* 

Lacro, R. V., 82 

LaCroix, A. Z., 2145W 

Lacroix, J., 778W* 

LaDana, C., 3154F 

Ladd-Acosta, C., 463F 

Ladeira, M. S., 1187F 

Ladenvall, C., 2076W, 

2187W 

Ladner, M., 1589T 

Ladouceur, M., 1678T, 

1982F, 2319W 

Lærum, H., 3614W 

LaFauci, G., 2449T 

Lafay-Cousin, L., 1052F 

Lafek, M., 750T 

Laforêt, P., 328 

Laframboise, R., 2790F 

LaFramboise, T., 1231T 

LaFreniere, D., 2474F 

Lafrenière, R. G., 2338T 

Lagace, F., 2866W 

Laganiere, J., 803W 

Lage, K., 805F 

Lagou, V., 190*, 2106W 

Lagström, S., 897W 

Lahjouji, F., 2306F 

Lahtinen, T., 327 

Lai, A., 3707F* 

Lai, A. H. M., 2889F 

Lai, C. Q., 2024F 

Lai, I., 3467T 

Lai, J., 2786T 

Lai, P. S., 771W* 

Lai, S., 177, 1120T*, 1516F, 

2198F, 2329T 

Lai, Y. C., 667F 

Laidre, P., 1140W 

Laine, M., 2058W 

Laing, S. M., 745F 

Laird, C. D., 1580W 

Laird, N., 1431T, 1526W, 

2346W 

Lajonchere, C., 2617T 

Lakshman Kumar, B., 

1044W 

Lal, D., 2489F 

Lalani, S., 898T, 2942T 

Lalani, S. R., 229, 432W, 

952T, 2395T 

Lalanne, E., 9 

Laliberte, A., 76 

Läll, K., 1792W, 3353W 

Lally, C., 611T 

Lally, K. P., 834F 

Lalonde, E., 752T 

Lam, C. S. P., 2080T 

Lam, C. T., 680T* 

Lam, E. T., 2517W 

Lam, L., 3734W 

Lam, V., 2279F, 2280W 

LaMadrid-Herrmannsfeldt, 

M., 530W 

Lamantea, E., 164 

Lamari, F., 2820F 

Lamb, A. N., 886T 

Lamb, D., 2979T 

Lambert, B., 2179T 

Lambert, B. W., 194 

Lambert, C., 3303T, 3338W 

Lambert, L., 2792T 

Lambert, S., 2729T 

Lambourne, J. J., 3439T* 

Lambrecht, B., 2225F 

Lamb Thrush, D., 912T 

Lamb Thrush, L., 456W 

Lameijer, E., 459F 

Lameiras, L., 1778W 

Lamghari, H., 2306F 

Lammer, E., 75, 1589T 

Lammer, E. J., 1352W, 

1885T 

Lamnissou, K., 3017T 

Lamont, R., 910T, 3141W 

Lamontagne, M., 1655T, 

1947W* 

Lamparter, D., 1387F 

Lampe, A. K., 218 

Lamport, D., 3119W 

Lan, F., 1036T 

Lancaster, O., 3610W 

Lancet, D., 53, 2875W 

Landais, E., 3165W 

Landan, M., 3242F 

Landau, D., 2931F 

Lander, E., 322 

Landero, D., 2365T 

Landes, M., 3698W 

Landi, M. T., 1154F* 

Landsverk, M., 666T, 677F 

Lane, J., 1988F*, 3454T 

Laner, A., 1005W 

Lang, A. E., 2428T 

Lang, P., 1200W, 1233W 

Lang, R., 2637W 

Langaee, T., 646T 

Langberg, C. W., 991T 

Langberg, K. A., 2011T 

Langdon, Q., 3659F 

Lange, C., 1397W, 1536T, 

2057F, 2249F, 2346W, 

2520W 

Lange, E., 28, 1001F 

Lange, E. M., 170, 1214F, 

1437T, 1467T 

Lange, K., 38, 3621F 

Lange, L., 350, 1439W, 

2210F, 3678W 

Lange, L. A., 170*, 1408F, 

1437T, 1467T, 2131T, 

2336F, 2337W 

Langefeld, C. D., 1648T, 

1661T, 1888T, 1979F, 

2046W, 2143T, 2310W, 

3371W 

Langevin, L. M., 3095W 

Langevitz, P., 783W 

Langford, D. J., 1965W* 

Langhorst, B., 512W, 3517T 

Langhorst, B. W., 3702W, 

3715F 

Langlois, S., 2480F, 3135W 

Langmore, J. P., 3689F* 

Lango Allen, H., 2704W, 

2935W* 

Langouet, M., 202, 2808F* 

Langston, J. W., 803W 

Lanktree, M. B., 1659T 

Lannfelt, L., 434W 

Lanoel, A., 83 

Lantman - de Valk, 

H. M. J., 102 

Lao, K., 3696W 

Lao, R. Z., 2926W 

Lapasset, L., 857W 

Lapham, K., 96, 112 

Lapierrre, J.-M., 915W 

La Porta, M. L., 1060T 

Laporte, J., 328*, 2681T 

Lappalainen, I., 497F* 

Lappalainen, M., 2023T 

Lappalainen, T., 561F, 

567F*, 582W 

Lappe, J. M., 812F, 3081W 

Laprise, C., 665F, 778W, 

1361W, 1465F, 1941W 

Lapunzina, P., 3499T 

Laramie, J., 176, 1513F, 

1923W, 2308T, 2339F 

Largaespada, D., 1229F 

Lari, F., 2341T

Lariviere, M., 31 

LaRocque-Abramson, K., 

1636T, 2340W 

Laron, Z., 2706F 

Laros, J. F. J., 2701W, 

3586W, 3611F 

Larouche, V., 1065W 

Larrieu, L., 2947W 

Larsen, A., 1050W, 2689W* 

Larsen, E. C., 446W 

Larsen, l. A., 805F 

Larsen, P., 520W 

Larson, D., 1210T*, 2325W 

Larson, E., 2098T, 3622W 

Larson, E. B., 343, 618T, 

1312F, 1828F 

Larson, M. C., 3451T 

Larson, N. B., 1247F* 

Larsson, P., 3732W 

LaSalle, J. M., 64, 832F, 

2783T, 3479T, 3498T 

Laslett, L. L., 2292W 

La Spada, A. R., 508W, 

565F, 2456F, 2628W 

Lasseaux, E., 473F 

Lasseter, V. K., 2573F 

Lassila, O., 1139F 

Laššuthová, P., 2745F 

Lasyone, C., 3648W* 

Laszig, R., 3203W 

Latendresse, S., 3512T 

Latha, M. M., 1893W* 

Lathi, R., 73 

Lathrop, G. M., 1952F, 

3466T, 3486T 

Lathrop, M., 649T, 1158W, 

1361W, 1461T, 1941W, 

2072F, 2079W, 2248T, 

2303F, 3439T 

Latos-Bielenska, A., 845F 

Latour, F., 1678T, 1982F 

Latourelle, J., 1964F 

Lattanzi, W., 2235W 

Lattig, C., 2705T 

Lattig, M. C., 3225W 

Lattimer, I., 1173W 

Lau, C., 134 

Lau, K. W., 138 

Lau, K.-W., 1211F 

Lau, L., 175, 2617T 

Lau, P., 1645T, 2236T 

Lau, S., 2102F 

Lau, W. W. S., 1419T* 

Lau, Y., 2016W, 2064W 

Lau, Y.-F. C., 408, 1179W 

Lauc, G., 3286F 

Laufer, B. I., 378* 

Laughlin, C. P., 639T 

Laukaitis, C. M., 1087T 

Laumen, H., 3536W 

Launay, J. M., 259 

Laurance, M., 3560W* 

Lauren, W., 2490W 

Laurent, C., 3658W 

Laurent, L. C., 3020T 

Laurent, N., 77, 3240F 

Laurenti, E., 1193F* 

Laureys, A., 2757F 

Laurino, M., 144* 

Lauritzen, T., 2347T 


Laury-Andas, J., 1090T 

Lauwerys, B., 2284T 

Laux, R., 3335W 

Laval, G., 3304F 

Lavielle, N., 1158W 

LaViolette, C., 988T 

Laviolette, M., 1947W 

Lavy, J., 2302T 

Law, J., 3730W 

Law, L., 1889F 

Law, M. H., 212* 

Lawaetz, J., 2707W 

Lawani, M. B., 1162T 

Lawless, J. F., 1412W 

Lawlor, D. A., 1318F, 

1626T 

Lawrence, E., 2761W*, 

2960T 

Lawrence, M. S., 402 

Lawrenson, K., 210 

Lawson, J. W., 2330F 

Lawton, S., 143 

Lax, S., 1115F 

Layman, L., 2984T 

Layman, L. C., 2732T 

Layrisse, Z., 3390T 

Lay-Son, G., 1658T, 2065T 

Lazalde, B., 1121F* 

Lazar, M., 1727W, 3152F 

Lazaruk, K., 75 

Lazarus, P., 1016F, 1107W 

Lazier, J., 3511T* 

Lazor, R., 2877F 

Lazzeroni, L. C., 1356T*, 

1393F 

Le, S., 734T*, 2069F 

Le, S. Q., 695F, 697F, 785W 

Lea, A., 1820F 

Lea, R., 1042T 

Lea, R. A., 1912T, 2916F 

Leach, C. T., 1406W 

Leach, R. J., 2495F 

Leal, G. F., 2270F 

Leal, M. F., 1008W*, 1132T, 

3421T, 3503T 

Leal, S., 19, 93 

Leal, S. M., 6*, 1554T, 

2336F, 2337W 

Leão, L., 2434T 

Leao, L. L., 3107W 

Learned, K., 3557F, 3612W 

Leathley, E., 2625W 

Lebbé, C., 29 

Lebel, K., 1951T 

Lebel, R. R., 871W 

Le Ber, I., 345, 2638T 

LeBlanc, E., 2020T 

LeBlanc, M., 1581T* 

Lebo, R., 2972T* 

Lebon, P., 2452T 

Lebon, S., 299 

Le Bouar, G., 3170F 

Leboyer, M., 259 

Lebre, A.-S., 72 

Lebron, J., 310 

Le Calvez-Klem, F., 1213T 

Leccia, M.-T., 29 

Lecerf, J.-M., 1607T 

Lechno, S., 849F 

Leclerc, G., 778W 


Le Clerc-Blain, J., 1733W* 

Le Cras, T. D., 2136W 

Lecroq, T., 3538W 

Ledbetter, D. H., 299, 917W, 

2439W 

Ledda, M., 1281T 

Lederer, D., 3216F, 3218F 

Ledet, E., 1040F* 

Ledevil, C., 2436W 

LeDoux, M., 2782W 

LeDoux, M. S., 2438F* 

Le Dudal, K., 259 

Lee, A., 59, 207, 208, 

1109F, 1133F 

Lee, A. T., 306 

Lee, A. V., 3433T 

Lee, B., 164, 165, 389, 411, 

774W, 795W, 834F, 839F, 

840F, 2678T, 2854W, 

2934F, 3209W 

Lee, B. H., 698T*, 787W, 

2864T, 3227W 

Lee, B. K., 463F 

Lee, B.-N., 3722W* 

Lee, C., 10, 34, 400, 

494W, 864T, 1249T*, 

3103W, 3247W*, 

3251W, 3310F 

Lee, C. C., 1068W, 1244F 

Lee, C. R., 606T 

Lee, D., 258, 545F, 2119T, 

3008T, 3326W, 3461T 

Lee, D. H., 1654T 

Lee, D. S., 3463T* 

Lee, E., 1248W, 2117F 

Lee, E. J., 739F 

Lee, E. Y., 863W 

Lee, H., 315*, 361, 739F, 

1036T, 1657T*, 1685T, 

2117F, 2221T*, 3020T, 

3485T, 3536W, 3730W 

Lee, H.-J., 1622T 

Lee, H. M., 2279F 

Lee, H.-Y., 2581T*, 2779W, 

3656W, 3703F 

Lee, I., 2383T 

Lee, J., 267*, 442W, 909W, 

1061F, 1243T, 1248W, 

1291F, 1385W, 1561F*, 

1590T, 1650T, 1657T, 

1762W, 2117F, 2437T, 

2643W*, 2834T*, 3444T, 

3462T, 3473T, 3582W, 

3625F, 3708W 

Lee, J. A., 3109W* 

Lee, J.-E., 1656T 

Lee, J. E., 641T 

Lee, J. G. H., 129 

Lee, J.-H., 1964F 

Lee, J. H., 82, 194, 897W, 

1563T, 1641T, 2093F, 

2179T, 2208W*, 2410T, 

2547W 

Lee, J.-J., 3227W 

Lee, J. M., 9, 588W, 1786W, 

1787W, 1834F* 

Lee, J.-M., 1964F 

Lee, J.-O., 964T 

Lee, J. S., 787W, 1558F 

Lee, J. W., 2715F 

Lee, J.-Y., 3227W 

Lee, K., 231, 908T, 1654T, 

1656T, 2118W, 2119T, 

2828T, 3085W, 3635F 

Lee, K.-A., 3178F 

Lee, K. P. Y., 2640W 

Lee, L., 2826F 

Lee, M., 263, 900T, 1218W, 

1243T, 1474F*, 1590T, 

2142W, 2146T, 2156F, 

2437T, 2756T, 2921T 

Lee, M. H., 528W 

Lee, M. K., 26, 287, 1089W, 

1226F, 1464T, 1654T, 

2600F 

Lee, M. N., 528W* 

Lee, M. T., 2858T 

Lee, N.-C., 683F 

Lee, N. C., 706T 

Lee, O., 981W 

Lee, P. H., 352* 

Lee, R., 3696W 

Lee, R. K., 2154W, 2240F, 

2263T 

Lee, S., 846F, 947W, 

1230W*, 1248W, 1384F, 

1388W*, 1529W*, 1530T, 

1931F*, 2334W, 2663T, 

2715F, 3085W, 3413W, 

3473T, 3605F, 3681F 

Lee, S.-J., 2119T* 

Lee, S. K., 3423T* 

Lee, S. S.-J., Session 9 

Lee, S.-T., 1007F, 1103F 

Lee, T., 729F, 781W, 

2200T 

Lee, W., 1248W*, 2437T, 

2581T, 3606W 

Lee, Y., 40*, 985T, 1894T*, 

1905W, 2587T 

Lee, Y. A., 2102F 

Lee, Y.-A., 1942T 

Lee, Y.-H., 1622T 

Lee, Y.-J., 2285F 

Lee, Y. K., 846F 

Lee, Y. M., 2712F 

Leeder, J. S., 811F 

Lee-Kirsch, M. L., 2102F 

Lees, M., 2752W, 2896W 

Lees, M. M., 217 

Lefeber, D. J., 214, 672T 

Lefebvre, A., 3538W 

Lefebvre, J.-F., 1478W 

Lefever, S., 2927T 

Lefevre, J., 1170W 

Leffler, E., 285 

LeFloch, A., 1768W 

Lefol, C., 1212W 

Lefort, G., 857W, 936T, 

2386T, 2729T, 3121W, 

3166F 

Legallic, S., 345 

Legeai-Mallet, L., 763W 

Legendre, M., 77*, 403 

Legendre-Guillemin, V., 778W 

Legius, E., 1139F 

Le Goff, C., 127* 

Le Goff, W., 127 

Legrand, G., 1170W 

Legro, R. S., 2327F 



Lehesjoki, A.-E., 2898F 

Lehman, A., 750T, 3006T* 

Lehman, D., 1513F, 2495F 

Lehman, D. M., 176, 1923W, 

2308T, 2339F 

Lehne, B., 1470T 

Lehner, T., 2523W, 2560T 

Lehr, T., 617T 

Lehrach, H., 582W 

Lehtimäki, T., 109, 656T, 

1623T, 2059T, 2097W, 

2120F, 2350T, 2383T 

Lehtinen, M. K., 266 

Lehtonen, R., 995F 

Lei, J., 824F, 1144T 

Leiba, H., 3162F 

Leidinger, P., 515F 

Leigh, M. J., 770W 

Leigh, M. W., 2851W 

Leighl, N. B., 1108T 

Leijsten, N., 979W 

Leijsten, N. F. A., 955W 

Leikin, S., 222, 2853F 

Lein, E., 2444F 

Leipzig, J., 391 

Leissner, P., 2255F 

Leistner-Segal, S., 747F 

Leistritz, D. F., 1759W* 

Leite, J., 1851F 

Leitsalu-Moynihan, L., 

1792W, 1832F*, 3353W 

Lejeune, S., 1212W 

Lek, M., 280, 295*, 582W 

Lekanne dit Deprez, R., 

1616T, 3650W 

Lekshami, J., 3400T 

Lelis, A. M., 753T* 

Lema, G., 283, 3303T, 3338W 

Lemaitre, J. M., 857W 

Lemanske, R., 536W 

Le Marchand, L., 205, 

1079F, 2202W 

LeMarchand, L., 1067F, 

1206W, 1925F 

Lemay, P., 2075F* 

Le Merrer, M., 324, 915W, 

2729T, 3129W 

Le Meur, G., 390 

Lemieux Perreault, L.-P., 

3401W 

Lemire, E., 3127W, 3209W 

Lemire, E. G., 2772F 

Lemire, M., 1093T, 3478T, 

3489T 

Lemley, M., Session 20 

Lemke, A. A., Session 25 

Lemmelä, S., 2120F* 

Lemmens, I., 2660F 

Lemmers, R. J. L. F., 55 

LeMons, C., 774W 

Lemos, C., 1296T*, 2736F 

Lemos Silveira-Lucas, E., 131 

Lemyre, L., 149, 1827W 

Lenaers, G., 2679F 

Lench, N. J., 1748W, 1773W* 

Lencz, T., 17, 264, 3346F, 

3366T 

Lenders, J. W. M., 1220F 

Lenferna de la Motte, P., 

2411F 


Leng, N., 1249T 

Lenk, G. M., 2471F* 

Lenkala, D., 623T 

Lenkiewitz, E., 1186T 

Lennep, C. V., 2676F 

Lennington, J., 2854W 

Lenz, D. R., 2914W 

Lenz, M., 1851F 

Lenz, P., 1092W 

Lenz, T. L., 3404T* 

Lenzini, P. A., 2535W 

Leo, P., 152 

Leo, P. J., 2053T 

Leon, E., 3189W* 

Leonard, L., 2316W, 3040F 

Léonard, M., 3538W 

Leonardi, E., 1755W, 2795T 

Leon-Del-Rio, A., 3504T 

Leone, M., 2095T, 2804T 

Leong, P., 3717F 

Leongamornlert, D., 205, 

1011W 

Leon-Salazar, V., 821F 

Leotta, A., 2587T 

Leoyklang, P., 709F* 

LEPGen Consortium, 2116T 

Leppä, V., 252, 2350T*, 

2399F 

Leppanen, P. H. T., 1976F 

Leppert, M. F., 2397W 

Leppert, T., 2397W 

Leproust, E., 3709F 

LeProust, E., 975W, 3459T, 

3653F, 3669F, 3726W 

Lerach, H., 567F 

Lerch, M. M., 2141F 

Leren, T. P., 1607T 

Lerental, Y., 2691F 

Lerer, B., 2564F 

Lermioglu, F., 1172F 

Lerner, M., 474W 

Leroy, B., 77 

Leroy, B. P., 539F, 1790W, 

2927T 

Lesage, S., 29, 2638T* 

Lese Martin, C., 13, 299 

Leshinsky-Silver, E., 3174F 

Leske, M. C., 1003T 

Lesko, S. M., 1107W 

Leskovac, A., 3286F 

Leslie, E., 2325W 

Leslie, E. J., 2762T* 

Leslie, N., 789W 

Leslie, S., 181* 

Lesniak, B. P., 2185T 

Lesovaya, E., 1180T, 1181F* 

Lessage, S., 1982F 

Lessard, C. J., 529F, 

2084F*, 2188T 

Lessard, J. A., 529F, 2084F, 

2188T 

Lessov-Schlaggar, C. N., 

642T 

Lester, T., 218 

Lesueur, F., 1213T 

Letaif, O., 3184F 

Leth, H., 702T 

le Tisser, P., 2701W 

Letourneau, A., 67, 85, 

561F, 807F, 3431T* 

Letra, A., 1936T* 

Letra, A. M., 1908W 

Lettre, G., 350, 1408F, 

1906T*, 2063F, 2210F, 

2247W, 2319W, 3401W, 

3525T 

Leung, D., 2849T 

Leung, D. G., 2962W 

Leung, H.-T., 2072F 

Leung, P. C. K., 2977T 

Leusink, M., 609T* 

Leuzzi, V., 760W 

Lev, D., 2447F, 3048F, 

3174F 

Levade, T., 54, 716T 

LeVan, T. D., 3027T 

Levandowsky, E., 400, 

1068W, 1244F 

Levenstein, M., 1269W 

Leverenz, J., 2538W 

Leverenz, J. B., 2646W 

Levert, A., 2558F 

Levesque, G., 2528F 

Levesque, M. P., 363 

Levi, M., 1604T 

Levin, A., 1250F 

Levin, A. M., 1895F* 

Levin, B., 2583W 

Levin, H., 1138T 

Levin, J. Z., 554W 

Levine, D., 3210F 

Levine, D. M., 2190W 

Levine, J. D., 1965W 

Levine, K., 2761W, 2960T 

Levine, M. A., 3448T 

Levine, R. L., 1017W 

Levine, S., 1820F 

Levinson, D., 2576F 

Levinson, D. F., 369, 2372F, 

3658W 

Levitas, A., 1588T 

Levitt, P., 2444F 

Levy, B., 73*, 937W, 957W, 

977W, 1031F, 3018T 

Levy, D., 584W, 1600T, 1653T, 

1659T, 2063F, 2587T 

Levy, D. J., 3158F 

Levy, J., 2114F 

Levy, J. L., 2170T 

Levy, N., 328 

Levy, R., 10 

Levy, S., 494W, 1239W 

Levy, S. M., 1464T 

Levy Lahad, E., 2991T, 3002T 

Levy-Lahad, E., 2447F, 

2929W, 2993T 

Levy-Mozziconacci, A., 

3129W 

Lewandoski, M., 828F 

Lewellen, N., 2 

Lewinger, J., 1362T 

Lewin-Koh, N. J. I., 1539T* 

Lewis, A. P., 74, 94 

Lewis, B., 2145W 

Lewis, B. A., 1295W 

Lewis, C. E., 1661T 

Lewis, C. M., 348, 1313W, 

1329T*, 2509T 

Lewis, D., 2034W* 

Lewis, D. M., 529F, 2188T 

Lewis, I., 3695F 

Lewis, J. P., 602T 

Lewis, K., 358, 1690T 

Lewis, K. L., 1696T 

Lewis, M., 3697F 

Lewis, M. E. S., 491F 

Lewis, M. H., 1731W 

Lewis, R., 1900T, 2043W 

Lewis, R. A., 3234F 

Lewis, S., 447F, 517F 

Lewis, S. E., 2725W 

Lewis, T., 3182F* 

Ley, R. E., 537F, 2029T 

Ley, T., 1203W 

Leya, J., 865W 

Leyva, N., 9, 3124F, 3226F 

Leyva, X., 3125W 

Li, A., 121, 174, 648T 

Li, B., 93, 869W, 2216F*, 

2926W, 3273T*, 3275W, 

3566W 

Li, C., 1493W, 2204F*, 2207F, 

2301W, 3275W, 3557F, 

3603F, 3604W, 3714W* 

Li, C.-Y., 1209W, 1246T, 

3278W 

Li, D., 1157F, 1681T, 2136W, 

2722W, 2856F*, 3237W 

Li, F.-Y., 1750W*, 2778F 

Li, G., 2080T, 2145W 

Li, G.-N., 457F, 2623T 

Li, H., 116, 195, 284, 529F, 

798W*, 1242W, 1261T, 

2084F, 2188T*, 2246F, 

2259W, 2477F, 2643W, 

3029T, 3293W, 3320W*, 

3377W 

Li, H.-Y., 3529F 

Li, J., 196, 432W, 1404T, 

1473T, 1491T, 2053T, 

2121W*, 2172W, 2229W, 

2237F, 2332T, 2571W, 

2879T, 3282T, 3465T*, 

3505T, 3534W, 3613F* 

Li, J. B., 289, 527F, 543F, 

577F 

Li, J. Z., 476W, 2135F, 3285T 

Li, K., 3281W 

Li, K. P., 170 

Li, L., 603T*, 888T*, 1086W, 

1612T, 1686T, 2230T*, 

2680W, 3081W, 3134F, 

3483T, 3552W 

Li, M., 21*, 399*, 812F, 

1027T, 1040F, 1532W, 

1555F, 1642T, 1914W*, 

2210F, 2444F, 3551F 

Li, M. D., 1540F, 2388W, 

2390F, 2574W 

Li, M. X., 3559F 

Li, N., 2544W* 

Li, Q., 5*, 159, 1363F, 

1512T, 2048F, 2345F, 

2419T 

Li, Q. B., 2311T 

Li, Q. Z., 1901F, 2284T 

Li, R., 106, 277, 618T, 

1167W, 1311T*, 1312F, 

1411F, 1447F, 2098T, 

2921T, 3308W, 3667F*

Li, S., 443F, 909W, 1235F, 

1365T, 1369F, 2274W*, 

2834T, 3394T, 3464T* 

Li, T., 2419T, 2494T, 2573F 

Li, W., 441F*, 528W, 844F*, 

1322W*, 2953W 

Li, W. D., 2612F 

Li, W. R., 2858T 

Li, X., 568W*, 950T, 1322W, 

2094W, 2698W, 2895F, 

2907F, 3021T, 3065W, 

3535F 

Li, Y., 1, 154, 159, 323, 377, 

382*, 399, 408*, 480W, 

564W, 1027T, 1369F, 

1427W, 1437T, 1491T, 

1524T, 1532W, 1555F, 

1627T, 1730W, 1952F, 

2251T, 2254T, 2317T, 

2347T, 2489F, 2542T, 

2559W, 2617T, 2944W, 

3134F*, 3221W, 3307F, 

3483T, 3490T, 3553F, 

3580W 

Li, Y. S., 1110W 

Li, Z., 974T*, 1304W, 1546F 

Lia-Baldini, A.-S., 2694F* 

Lianas, L., 157 

Liang, B., 490W 

Liang, C., 1901F, 2949F 

Liang, J., 2251T, 3307F 

Liang, J. Q., 1723W 

Liang, K. Y., 1472W 

Liang, L., 1027T, 1357F, 

1390F, 2102F, 3466T*, 

3469T, 3486T 

Liang, M., 1540F 

Liang, S., 1133F 

Liang, W., 1240T 

Liang, Y., 3300T 

Liao, J., 904T, 2094W 

Liao, J. C., 2238W 

Liao, O. Y., 1054T 

Liao, S.-Y., 2122T* 

Liao, W., 3708W 

Liao, Y., 511F 

Liao, Y. C., 1586T* 

Libarkin, J., 1861F 

Libener, R., 1153T 

Liberal, V., 3720W 

Liberton, D. K., 2223W 

Libiger, O., 24*, 3332W 

Li Chang, H. H., 1138T 

Lichanska, AM., 1165T 

Lichtarge, O., 2854W 

Lichtenstein, P., 2509T 

Lichter, P. R., 2154W, 2240F, 

2263T 

Lichter-Konecki, U., 774W 

Lichtner, P., 2086T, 2568W 

Lichty, A., 3171W 

Lidar, M., 783W 

Lidereau, R., 1062W, 

1212W 

Lidral, A., 2325W 

Lie, R., 1564F 

Lie, R. T., 1472W 

Lieber, D. S., 326* 

Lieberman, E., 872T, 875W 

Lieden, A., 1939T 


Liendhard, A., 2694F 

Lietman, C., 2854W 

Lifton, R., Session 74 

Lifton, R. P., 845F, 1241F, 

2779W, 2915T 

Light, N., 569F* 

Ligon, K. L., 266 

Ligtenberg, M. J. L., 1220F 

Liguori, M., 2597F 

Lih, C.-J., 1068W* 

Lihm, J., 1338T* 

Lilien, M. R., 2848W 

Liljedahl, U., 3217W, 3427T 

Lilley, J. S., 1634T* 

Lillquist, Y., 750T 

Lim, B., 680T, 877W*, 3204F 

Lim, B. C., 3180F 

Lim, E., 280, 624T 

Lim, E. C. P., 2889F 

Lim, E. T., 11*, 2344T, 

2613W 

Lim, J., 947W, 3008T*, 

3461T 

Lim, J.-E., 1622T 

Lim, J.-H., 964T 

Lim, J. W., 55 

Lim, M., 1622T 

Lim, R., 2482T 

Lim, S., 2328W* 

Lim, S. N., 3034T 

Lim, Y., 552W* 

Lima, B. L., 776W* 

Lima, M. A. F. D., 2642F 

Lima, R. M., 1880F 

Limacher, J.-M., 1212W 

Limaye, M., 1015T 

Limaye, N., 83, 1611T 

Limburg, P. J., 1351F 

Limem, K., 1751W 

Limon, A., 694T 

Limotai, C., 2749W 

Lin, A., 103, 124, 126 

Lin, A. Y., 1054T 

Lin, B., 2974T 

Lin, C., 1249T, 3695F 

Lin, C.-F., 342, 2316W 

Lin, C.-L., 2285F 

Lin, C. Y., 1368T 

Lin, D., 170, 1027T, 2337W 

Lin, D. Y., 1434T, 1437T 

Lin, G. N., 2660F 

Lin, H., 981W*, 2556W, 

3467T* 

Lin, I.-H., 610T 

Lin, J., 96, 112 

Lin, L., 382, 2543F 

Lin, M., 1894T, 1905W 

Lin, M.-W., 610T*, 1955F 

Lin, R., 511F 

Lin, S., 1272W, 2419T, 

2610W, 3326W, 3467T 

Lin, S.-W., 1010F 

Lin, W., 985T, 1410T, 1894T 

Lin, X., 1529W, 1530T, 

2122T, 2334W 

Lin, Y., 1235F, 2053T 

Lin, Y. C., 2245T 

Lin, Y. H., 2936T* 

Lin, Y.-Y., 214 

Lin, Z., 2478W*, 2921T* 


Linares, N., 659F 

Lincecum, T., 3698W 

Lincoln, P., 804W 

Lincoln, S., 1513F, 1923W, 

2308T, 2339F 

Lincoln, S. E., 176 

Lind, J. M., 1705T, 1862F* 

Lind, L., 2070W 

Lind, P. A., 2212T, 2505W* 

Lindberg, M. L., 436W 

Lindblad-Toh, K., 322 

Linden, D., 684T 

Lindenbaum, P., 1204T 

Linder, H., 2331W 

Linderoth, T., 3312T 

Lindfors, K., 2023T 

Lindgren, A. M., 70, 284, 

862T 

Lindgren, C. M., 44, 173, 

269, 583F, 1308T, 1954T, 

2070W, 2076W, 2077T, 

2090F, 2123F, 2147F, 

2187W, 2324F, 3435T 

Lindhurst, M. J., 33* 

Lindor, N. M., 141, 1058F*, 

1067F, 1079F, 1206W, 

3564W 

Lindo-Samanamud, S., 

2453F* 

Lindquist, K., 1250F* 

Lindsay, F., 2497T 

Lindsay, M., 81 

Lindsay, M. E., 79, 80 

Lindsay, S., 43, 61 

Lindstrand, A., 2955F* 

Lindstrom, S., 191, 205, 

318, 356, 1150T 

Linehan, W. M., 1242W 

Ling, H., 46, 1254W, 1452T, 

1512T, 2556W, 3716W 

Ling-Fung, P., 2926W 

Linker, S., 524W* 

Linn, A., 316 

Linnankivi, T., 2888T 

Linneberg, A., 2317T 

Linnertz, C., 2465F 

Lins, T. C. L., 1880F, 

3272W* 

Lins, T. S., 2706F 

Linton, M. F., 1634T 

Lioi, M. B., 2629T 

Lionel, A., 98, 2570F 

Lionel, A. C., 2575T*, 3086F, 

3095W 

Liou, B., 161 

Liou, H., 2392T 

Lipinski, S., 2103W 

Lipkin, S. L., 1159T 

Li-Pook-Than, J., 1505W, 

2322W 

Lippert, C., 1379W, 3468T 

Lipshultz, L., 2979T 

Lipska, B. K., 260, 2622W 

Lipson, S., 168 

Liptak, G. S., 1254W 

Lira, R. P. C., 2751F 

Lis, J. T., 415F 

Lisoňová, J., 2745F 

Lissowska, J., 1117T 

Listerman, I., 96, 112 

Listgarten, J., 1379W, 

3468T* 

Litscher, S. J., 710T 

Little, J., 149, 1827W 

Littleton, K. R., 50 

Littman, E., 78 

Littman, J., 999W 

Littrell, J., 441F 

Litzelman, K., 1267T 

Litzler, J., 3240F 

Liu, A., 536W 

Liu, C., 412W*, 486W, 

1585T, 1896W*, 1974W, 

2196W, 2197T, 2561F, 

3520T 

Liu, C. T., 2030F 

Liu, D., 1370W* 

Liu, E., 1330F 

Liu, E. Y., 1427W, 1555F* 

Liu, G., 1016F, 1108T, 

3210F 

Liu, H., 1257W, 1291F, 

2721F* 

Liu, J., 368, 602T, 910T*, 

924T*, 1117T, 1930T, 

2055W, 2112W, 2275T 

Liu, J. B., 2985T 

Liu, J. J., 1934F 

Liu, J. Z., 153*, 2101T, 

2163W 

Liu, K., 1371T, 2649W 

Liu, L., 1433W, 1520W*, 

1777W 

Liu, M., 1198T 

Liu, M.-J., 3029T 

Liu, N., 1410T*, 1460W 

Liu, P., 61*, 63, 512W, 824F, 

1511W*, 3483T, 3517T, 

3702W, 3715F* 

Liu, R., 2969T 

Liu, S., 326, 489F*, 1925F, 

2489F, 3428T 

Liu, T., 1070F 

Liu, V. C. H., 2066F 

Liu, W., 314, 613T*, 1735W, 

1742W, 1757W, 1761W, 

2802F* 

Liu, X., 123, 174, 349, 

442W*, 864T, 1182W*, 

1369F, 1546F, 1693T*, 

3026T, 3339T* 

Liu, X. L., 1930T 

Liu, X. S., 1907F 

Liu, Y., 13, 386, 544W, 

1019F*, 1098W, 1491T, 

1642T*, 2052W, 2145W, 

2154W, 2172W, 2240F, 

2263T, 2556W, 3551F 

Liu, Y. J., 2053T 

Liu, Y.-Z., 2172W 

Liu, Y. Z., 2053T 

Liu, Z., 1357F*, 1644T, 

2020T, 3495T, 3587F 

Livermore Auer, P., 19* 

Livingston, R., 530W 

Livneh, A., 783W 

Lizano, E., 567F 

Llewellyn, K. J., 757W* 

Lloreta, J., 1091F 

Lloyd, D., 3703F 



Lloyd, D. L., 219* 

Lloyd-Evans, E., 162 

Lo, C.-L., 829F 

Lo, F., 1894T 

Lo, K., 601T, 1249T 

Lo, K. S., 1906T, 3525T* 

Lo, Y., 1521T* 

Loane, E., 1897T 

Lobina, M., 177, 1516F, 

2329T, 3664W 

Lobo, D. S. S., 2608T* 

Local Genome Diversity 

Studies Consortium, 

3315T 

Locke, A. E., 108, 173, 269, 

1954T, 2069F, 2090F, 

2123F*, 2147F, 2241W 

Lockhart, D. J., 732T, 1684T 

Lockhart, N., 1845W 

Lockwood, C., 3030T 

Locus Development, Inc., 

1766W, 1771W, 3548W, 

3692W 

Loddo, S., 881W, 943W, 

2777T* 

Loeschner, A., 2483F 

Loeuillet, L., 77, 403 

Loeys, B., 79, 80*, 1617T, 

1679T, 2387F 

Loftus, S. K., 258 

Logan, A. C., 1112F 

Loget, P., 77, 3129W, 3170F 

Logronio, C., 3331F* 

Logsdon, B. A., 1408F* 

Logue, M., 343 

Logue, M. W., 2563T* 

Loguercio, S., 3584W 

Lohi, H., 2213F, 2517W, 

2913F 

Löhle, E., 2829F, 3203W 

Lohman, G., 3517T, 3715F 

Lohmann, D., 392 

Lohmann, J., 2160W 

Lohmann, K., 200*, 204 

Lohmueller, K., 182, 281 

Lohmueller, K. E., 1573F, 

2311T*, 3305W 

Lohn, Z., 1846W* 

Lohnau, T., 204 

Loi, A., 157 

Loi, H., 3730W 

Lok, K. H., 1662T 

Loke, J., 409*, 1185W 

Loken, E., 2594F 

Loken, E. K., 2599T* 

Lokki, M. L., 3258T 

Lolkema, M., 400 

Lomas, D., 2057F 

Lomas, D. A., 2249F 

Lomax, M. I., 1878W 

London, S., 536W 

Londono, D., 1358W*, 

1359T 

Londsdale, J., 368 

Long, J., 3612W 

Long, Q., 1457W 

Long Life Family Study, 

2040W 

Longman, C., 2812W 

Longo, A., 824F, 3492T 


Longo, N., 660T, 689F 

Longstreth, W. T., 1592T 

Lonie, A., 1213T, 3679F 

Lönnerholm, G., 3427T 

Lonnqvist, J., 252 

Lonsberry, V., 3683F 

Loo, A., 3006T 

Loo, S. K., 639T 

Loogers, L., 307 

Looijenga, L. H. J., 1122W*, 

1273T 

Loomes, K. M., 2316W 

Loomis, E., 477F, 2634W 

Loomis, E. W., 2633F* 

Loomis, S., 1887W, 2263T* 

Loomis, S. J., 2154W, 

2240F 

Loos, B. G., 2058W 

Loos, R. J., 2116T, 2131T 

Loos, R. J. F., 43, 108, 

1954T, 2090F, 2123F, 

2147F, 2241W, 2282F, 

2359T 

Lopes, A., 1778W, 2982T 

Lopes, F., 913W 

Lopes-Cendes, I., 514W, 

2233T, 2393F, 2394W, 

2609F*, 2653T, 2655W, 

2876T, 3578W 

Lopez, A., 1141T, 3035W 

Lopez, E., 2716W, 2770W*, 

2792T 

Lopez, I., 1779W 

Lopez, J., 3582W 

Lopez, J. P., 2338T, 2482T* 

Lopez, O. L., 2125T, 2521T 

Lopez Camarillo, C., 1048T 

López-Hernández, G., 

1131W, 1141T 

Lopez Parra, A. M., 3364F, 

3402T 

Loplumlert, J., 2749W 

Loranger, K., 1059W 

Lord, G., 2082W 

Lord, H., 218 

Lorenco, L. G., 3421T 

Lorente, B., 1 

Lorenz-Depiereux, B., 

2693T, 2922F* 

Lorenzo, C., 1888T 

Lorenzo, F. R., 3297T 

Lorey, F., 362 

Lorget, F., 763W* 

Lori, A., 2383T*, 2384F 

Loring, E., 2915T 

Lo Rizzo, C., 2604W 

Lortz, A., 3088F 

Löscher, W., 2948T 

Löscher, W. N., 201 

Losfeld, M. E., 1758W 

Lossie, A. C., 829F* 

Lotery, A. J., 2072F, 2843T 

Lott, P., 552W, 3479T 

Lotta, L., 2880F 

Lou, H., 443F*, 1242W, 

3334F, 3394T 

Lou, X., 1460W* 

Lou, Y., 1232F, 3456T 

Loucoubar, C., 2079W, 

2248T* 

Louie, K., 3429T 

Louie, T., 171 

Louie, Y., 3182F 

Louis, E., 442W, 2377T 

Louis, E. D., 1898F 

Loureiro, L. J., 2820F 

Lourenco, C., 2425T* 

Lourenço, C., 895W 

Lourenço, L. G., 3503T 

Lourenço, N. C. V., 1727W 

Louro, I. D., 182, 1573F 

Loutrel, J., 3530W 

Love, T. W., 2087F 

Lovecchio, J., 1133F 

Lovelette-Hernandez, A., 

1754W 

Lovell, A., 789W 

Lovestone, S., 3471T 

Lovick, N., 145*, 1810F 

Lovicu, M., 847F 

Loviglio, M. N., 775W, 3256F* 

Low, P. S., 771W 

Low, S., 2506T* 

Low, S.-K., 2133W 

Lowe, J., 553F 

Lowe, J. K., 2478W, 2518T, 

2551T*, 2658W 

Lowman, G., 3698W 

Lowndes, S., 982T* 

Lowrance, W., 1328W 

Loyola, B., 3076F 

Lozano, M. C., 2705T* 

Lozanovski, V. J., 845F 

LSFC Consortium, 665F 

Lu, A., 2415W* 

Lu, A. T., 2056T 

Lu, C., 1203W, 2606F, 

2759T 

Lu, D., 2721F, 3334F, 3394T 

Lu, F., 1251W, 3648W 

Lu, H., 2698W, 2895F, 

3065W, 3535F, 3681F 

Lu, H. M., 2698W, 2895F, 

3065W, 3535F 

Lu, I., 1736W 

Lu, J., 2934F, 3209W, 

3597F* 

Lu, J. T., 2864T 

Lu, L., 28, 1661T 

Lu, Q., 638T, 2251T 

Lu, W., 82 

Lu, X., 116, 134*, 909W, 

2259W 

Lu, X.-J., 2970T 

Lu, X. L., 1974W 

Lu, Y., 5, 1249T, 1511W, 

1582F, 2048F*, 2345F, 

2868F 

Lu, Y. C., 2936T 

Lu, Y. E., 1298W 

Lu, Z., 247 

Lu, Z.-L., 2970T 

Lua, R., 2854W 

Luan, J., 1553W*, 2282F 

Luan, J. A., 1365T 

Lublinghoff, N., 2829F* 

Luc, G., 1607T 

Luccarini, C., 205 

Lucchiari, S., 1751W 

Lucena-Araujo, A. R., 1045T 

Ludmila Serafim, A. L. S., 

3099W* 

Ludtke, A., 3033T* 

Ludwig, D., 96, 118, 230, 

2513F 

Ludwig, K., 1512T 

Ludwig-Kubinski, A., 1269W 

Ludwin, S., 671F 

Luedeke, M., 1080W 

Lugo-Trampe, A., 1030T 

Lugtenburg, I. C., 3611F 

Luiselli, D., 3322F 

Lujic, S., 1705T 

Luk, J., 1369F 

Luke, A., 1959W 

Luke, M. M., 1603T* 

Lukina, E., 773W 

Lukong, J., 1958F 

Luksan, O., 570W* 

Lulli, P., 760W 

Lum, P. Y., 2220W, 3618W 

Lumayag, S., 520W 

Lumley, T., 1346W, 1585T 

Lund, A. M., 737F 

Lund, J., 2699T 

Lund, L., 1845W 

Lundholm, C., 1707T 

Lundmark, P., 569F 

Lunetta, K., 1571W, 2165F 

Lunetta, K. L., 343, 1476T, 

2336F 

Lunnon, K., 3471T 

Luo, G., 3698W 

Luo, L., 20, 1401T* 

Luo, M., 490W, 1777W*, 

3276T* 

Luo, R., 553F* 

Luo, S., 1167W 

Luo, X., 521F 

Luo, Y., 354* 

Luoma, L. M., 2474F* 

Lupien, M., 188 

Lupoli, S., 2095T 

Lupski, J., 360*, 777W, 

2542T, 2934F 

Lupski, J. R., 61, 63, 229, 

314, 337, 428W, 430W, 

432W, 433F, 485F, 898T, 

1735W, 1742W, 1761W, 

2470T, 2798T, 2881W, 

2883F, 2908W, 2955F 

Lupton, S. J., 1705T 

Luscombe, S., 454W 

Lusis, A., 1337W 

Lusis, A. J., 39 

Luthra, K., 555F 

Lutz, C., 983F 

Lutz, F., 2646W 

Lutz, M., 2465F 

Lutz, M. W., 637T*, 1382W 

Lutz, R., 2951T 

Luu, S., 832F, 2571W 

Luukkonen, T. M., 897W* 

Luz del Rosario, M., 167 

Lvova, M., 3653F 

Ly, C., 2742F 

Ly, V., 490W 

Lybarger, D. J., 1346W 

Lyle, P., 136 

Lyle, R., 434W, 3510T*

Lynch, D. C., 3127W* 

Lynch, J., 262 

Lyon, E., Session 3, 1752W, 

3220F 

Lyon, G., 3561F* 

Lyonnet, S., 126, 522W, 

843F, 915W, 3172F 

Lyons, L. A., 3252T* 

Lyons, R., 177 

Lyons, R. H., 2329T, 2850F 

Lysell, J., 2276F 

Lyssenko, V., 190 

Lyu, S., 900T 

Lyytinen, H., 1976F 

M 

Ma, B., 2587T, 3469T* 

Ma, C., 1352W, 1389T*, 

1510F, 1885T, 2419T, 

2489F 

Ma, J., 31, 593F*, 1399F, 

2819T 

Ma, J. Z., 2388W, 2390F, 

2574W 

Ma, L., 183, 187*, 1936T, 

2251T 

Ma, R., 2280W 

Ma, R. C. W., 2279F* 

Ma, X., 462W, 1235F 

Ma, Y., 1198T*, 1772W* 

Ma, Z., 3696W* 

Maas, J., 2581T 

Maas, R. L., 82 

Maas, S., 2932W 

Maayan, H., 788W 

Mäbert, K., 2920W 

Mabuchi, F., 1980W* 

Macaranas, O., 803W 

MacArthur, D., 41, 567F 

MacArthur, D. G., 280*, 295, 

582W 

MacArthur, J. A. L., 2108F, 

2155T, 3732W* 

Macaya, D., 1676T 

MacBean, E., 1825W 

Macciardi, F., 2459F, 

2469W, 2564F*, 3587F 

Maccioni, L., 2001W 

MacCluer, J., 1280W 

MacCluer, J. W., 2061W 

MacDonald, H., 3143W 

MacDonald, I., 1802F 

MacDonald, J. R., 460W 

MacDonald, M. E., 1964F, 

2643W 

MacDougall, M., 2759T 

Mace, A., 62, 299 

Macek, M., 2102F 

Macera, M. J., 937W, 

957W*, 1031F 

MacGregor, S., 212, 2068T, 

2133W, 2190W 

Macgregor, S., 388*, 2077T 

Mach, C., 2770W 

Mach, M., 3116F 

Machado, C. O. F., 2654F 

Machado, J. C., 1747W 

Machida, J., 1574W*, 2747T 


Machiela, M. J., 1390F* 

Machielsen, G. C., 955W 

Machielsen, T., 979W 

Macias-García, B., 1030T 

Maciel, P., 913W 

Maciel-Guerra, A. T., 478W, 

479F 

Maciewicz, R. A., 2292W 

Macintyre, G., 2474F 

Macip, S., 1270T 

Mack, W., 3415T 

Mackay, D. J. G., 3494T 

MacKenzie, A. E., 2800W 

MacKenzie, J., 671F 

Mackenzie, W. G., 2855T, 

3150F 

Mackey, D. A., 2068T 

Mackey, J. R., 1297F 

Mackey, K., 658T 

Mackie Ogilvie, C., 906T 

MacKinnon, S., 2928F 

Macleod, J., 1567F 

MacLeod, S. L., 1459F 

MacMillan, A., 966T 

Mac Neal, M., 129, 2761W 

MacNee, W., 2249F 

Macpherson, J. M., 498W, 

1223F, 3386W 

Macpherson, M., 179 

Macrae, F., 1130F 

Macri, J., 2243F 

Macri, V. S., 1585T 

Madan, S., 2864T 

Madan-Khetarpal, S., 129, 

904T, 1744W 

Madden, P. A. F., 2056T, 

2212T 

Maddren, M., 3612W 

Madhoun, M., 3098F 

Madhusoodanan, J., 1183T* 

Madjunkova, S., 2983T 

Madore, A.-M., 1941W 

Madore, S., 966T 

Madrigal, I., 2624F, 2630F, 

2940F, 3217W* 

Madsen, J., 266 

Maeda, K., 52, 2823F 

Maeda, S., 2051F, 2071T 

Maeda, T., 1833W, 3432T*, 

3519T 

Mäenpää, H., 1253F 

Maer, A., 2973T, 3023T 

Maes, H. H., 2277W 

Maestrale, G. B., 2062T 

Maffei, P., 2702T, 2703F 

Maffeo, C., 775W 

Maga, M., 821F 

Magadi Gopalaiah, V., 523F* 

Magalhaes, W., 3562W* 

Magalhaes, W. C. S., 3325F 

Magaña, J. J., 3124F, 3226F 

Maganzini, D., 3680W 

Magdelaine, C., 2694F 

Mage, D. T., 86 

Mager-Heckel, A. M., 329 

Magi, R., 108, 2123F, 

2144F 

Mägi, R., 119, 190, 1308T, 

1954T, 2076W*, 2137T, 

2147F 


MAGIC (Meta-Analyses 

of Glucose and 

Insulin-Related 

Traits Consortium) 

Investigators, 2106W 

Maglio, C., 1271F 

Magliocca, S., 2916F 

Maglott, D., Session 77, 

1762W, 3582W, 3625F*, 

3732W 

Magnani, C., 1153T 

Magnani, J. W., 1585T 

Magnani, M., 760W 

Magnus, P., 3028T 

Magnusson, P. K. E., 991T, 

2105F, 2505W, 3442T, 

3452T 

Magot, A., 3066F 

Magoulas, P., 300 

Magoulas, P. L., 952T 

Magri, S., 2764W 

Magrini, V. J., 2587T 

Maguire, J., 290 

Maguire, M., 497F 

Magyari, L., 3283F 

Mahadevan, S., 3495T 

Mahajan, A., 49*, 119, 169, 

190, 1308T, 2070W, 

2076W, 2116T, 2137T 

Mahajan, V. B., 2750T* 

Mahamdallie, S. S., 1211F* 

Mahaney, M., 1280W 

Mahaney, M. C., 2308T, 

2309F, 3434T 

Mahaut, C., 127 

Mahdavi, M., 1718W, 

2964F* 

Mahdieh, N., 57 

Maher, B. H., 2916F 

Maher, B. S., 2500T, 2504F 

Maher, E. R., 2955F 

Mahesh, A., 1719W 

Mahmood, H., 2570F 

Mahomva, C., 1845W 

Mahon, L., 876T 

Mahon, P. B., 2391W* 

Mai, M. Q., 1723W 

Mai, P. L., 210, 1064F* 

Maia, S., 3019T 

Maiburg, M. C., 3164F 

Maier, A. B., 1436W 

Maier, C., 28, 1001F, 

1080W*, 1214F 

Maier, W., 3203W 

Maiers, M., 3330T 

Maiese, D. R., 1566T 

Maili, L., 1908W 

Maillard, A., 62, 299 

Maillet, P., 1268F 

Maisenbacher, M. K., 73 

Maiti, A., 1572T 

Maiti, A. K., 307* 

Maiti, R., 3582W, 3625F 

Maitland-van der Zee, 

A.-H., 609T 

Maiwald, S., 1604T 

Majewski, J., 701F, 706T, 

752T, 2790F, 2794W, 

3595F 

Majid, S., 2743W* 

Majounie, E., 2648F* 

Majumder, P. P., 3343F 

Mak, A., 1694T* 

Mak, S. K., 803W 

Makareeva, E., 222, 2853F 

Makarov, V., 1530T 

Mäki, M., 2023T, 2177F 

Makino, S., 373, 563F*, 

1574W 

Makishima, S., 2009F 

Makita, Y., 2758W 

Makkapati, V., 3316F 

Makke, B. J., 2249F 

Makowski, C., 2917W 

Makri, A., 5 

Makrythanasis, P., 84, 561F, 

2937F*, 3431T 

Maksymowych, W., 448W 

Malan, V., 889W, 915W*, 

3172F 

Malarstig, A., 503F 

Malasky, M., 30, 1218W, 

1517W 

Malats, N., 1091F 

Maldonado-Rodríguez, M., 

3124F 

Malecki, M., 1020W, 3015T* 

Malecki, R., 1020W*, 3015T 

Malek, J. A., 2933T, 3399W 

Malerba, G., 1361W, 

2548T*, 2659T 

Maleszewski, J. J., 2906T 

Maleva, I., 2983T 

Malfait, F., 128, 129, 2225F* 

Malheiro, A., 1762W 

Malhotra, A., 2124W* 

Malhotra, A. K., 264 

Malhotra, D., 480W, 2576F 

Malhotra, N., 2967T 

Malicdan, M. C., 755W*, 

2870T 

Malig, M., 12, 14, 278, 375 

Malik, J. M., 3078F 

Malik, N. A., 2920W 

Malik, R., 1313W 

Malinowski, A., 3013T 

Malinowski, J., 2042F* 

Maliszewski, K., 432W 

Malki, N., 1707T 

Malkin, D., 1055F, 3142F 

Malladi, V., 3612W 

Mallarino, C., 1876F 

Mallempati, K., 2951T 

Maller, J., 176, 1513F 

Malley, J. D., 1363F 

Mallick, S., 3372T 

Mallott, J. M., 362* 

Malloy, M. J., 1694T 

Malloy-Diniz, L., 2404T 

Mallya, K. S., 639T 

Maloney, K. A., 384 

Malta, F. S. V., 182, 1573F 

Maltête, D., 345 

Malukiewicz, J., 3251W 

Malvehy, J., 1053W 

Malzac, P., 2792T 

Mamaeva, O., 2759T 

Mamaï, O., 1751W, 2744T* 

Mamarabadi, M., 3197W 

Mambelli, L. I., 1102T* 



Mamchoui, K., 2840T 

Mampilly, G., 911W 

Mampilly, T., 911W 

Mamula, K. A., 1649T 

Manabe, R., 2891T 

Manak, J., 422W 

Manak, J. R., 419F 

Mancardi, G., 2095T 

Manchia, M., 2342F 

Mancini, G., 124 

Mancini, G. M. S., 214, 405* 

Mancini-DiNardo, D., 

1021T* 

Manco-Johnson, M. J., 

2330F 

Mandal, D., 28, 1040F, 

1081T*, 1214F, 1454W 

Mandal, R. K., 1123T 

Mandegar, M. A., 1620T 

Mandel, J.-L., 1800F* 

Mandell, J., 1226F 

Mandell, J. B., 1089W 

Mandelman, D., 3719F 

Mandl, K. D., 1836F 

Mane, S., 2444F 

Maneval, D. R., 1304W 

Manganelli, G., 2629T 

Mangino, M., 1653T, 2116T, 

2175W 

Mangold, E., 1512T, 2102F 

Mangolin, R., 2373W 

Mangravite, L., 615T 

Manhart, A., 3319F 

Manickam, K., 103, 456W 

Maniezzo, N. M., 1187F 

Manjarrez-Orduño, N., 306* 

Manjunath, S. H., 824F 

Mankodi, A., 711F 

Manley, W., 2426F* 

Manlhiot, C., 1704T 

Manly, J., 343 

Mann, G. J., 212 

Mann, K., 906T 

Mann, M., 2010W 

Mann, S. S., 2072F 

Mann, T., 3710W 

Mannens, M., 1616T 

Mannens, M. M., 681F 

Mannens, M. M. A. M., 

3650W 

Mannermaa, A., 1114T, 

1125W 

Mannhalter, C., 1603T 

Mannick, K., 299 

Mannik, K., 62 

Männikkö, M., 1892F 

Manning, A., 249, 269, 1151F 

Manning, A. K., 48, 50, 173, 

176*, 1373W 

Manning, J., 2255F 

Manning, M., 3053W 

Mannini, L., 2695W 

Manoharan, A. P., 2091W 

Manokhina, I., 1760W* 

Manoli, I., 674T*, 721F, 

738T, 2683W 

Manolio, T., 1447F 

Manolio, T. A., 2155T 

Manouvrier-Hanu, S., 3172F 

Manrique, C. P., 2049W 


Manschreck, C., 998F, 1159T 

Mansfield, B. C., 2712F 

Mansoori, M. M., 1096T 

Mansoori Derakhsham, S., 

779W 

Mansour, S., 127, 129 

Mansouri, M., 3246F 

Mantero, F., 2708T 

Mantha, K., 378 

Mantripragada, K. K., 2405F* 

Manuck, T., 1904F 

Manuel Gonzalez, J., 506W 

Manyam, S. R., 2351F* 

Manzaneda, F., 2033F 

Manzaneda, J., 2033F 

Manzardo, A., 3089W 

Manzi, S., 2099F 

Manzi, S. F., 634T* 

Manzoni, M., 3256F 

Mao, J., 3029T 

Mao, J.-H., 984W 

Mao, L., 2910F 

Mao, M., 1369F, 2684T* 

Mao, R., 689F, 3637F 

Mao, X., 3604W 

Maples, B., 3360T, 3361F, 

3380W, 3563F* 

Mapua, C., 2466W 

Mapua, C. A., 2473T 

Maqsood, M. I., 2959W 

Mar, L., 145, 1810F* 

Maragh, S., 818F* 

Maranda, B., 2790F 

Maranian, M. J., 209 

Marano, L. A., 3277F* 

Maranville, J., 248* 

Maranville, J. C., 2021F 

Marasca, G., 685F 

Marasco, E., 306 

Maray, T., 3336T 

Marazita, M., 2034W, 

2325W, 3609F 

Marazita, M. L., 1315F, 

1464T, 1472W, 1474F, 

1512T, 1936T, 1937F, 

2142W, 2156F, 2178W, 

3028T 

Marble, M., 124 

Marca, V., 2453F 

Marcelli, M., 113, 177, 186, 

1451W, 1516F 

March, M. E., 1996T* 

Marchan, R., 1335T 

Marchand, L., 5, 141 

Marchani, E., 1918T* 

Marchegiani, S. M., 2938W* 

Marchetti, F., 984W 

Marchini, J., 90, 91, 1484W, 

3360T, 3384T 

Marcia, L., 823F, 847F* 

Marcinkowska, M., 1745W* 

Marder, K., 442W, 2547W 

Mardis, E., 1203W, 1210T 

Mardis, E. R., 244, 2587T 

Marduel, M., 1607T 

Marenholz, I., 2102F 

Mares, J. A., 2020T 

Margadant, C., 2848W 

Margalioth, E. J., 2991T, 

2993T 

Margaritte-Jeannin, P., 

1361W, 1461T, 1941W, 

2079W 

Margolis, R. L., 2644T 

Margraf, R. L., 2720T, 

2951T*, 3638W 

Margulies, D. M., 1769W, 

1799W, 1836F, 1843W 

Margulies, E., 3663F 

Mari, B., 513F, 817F 

Mari, F., 2604W 

Mari, J. J., 2533T, 2534F 

Mariage, L., 3216F 

Mariani, J., 334 

Maric, I., 1259F 

Mariette, X., 2084F 

Marinelli, M., 2164T 

Marini, J. C., 222, 2853F 

Marini, M. G., 2001W 

Marini, N., 75 

Marion, M., 2143T 

Marion, M. C., 1979F 

Marion, V., 2887W 

Mariot, V., 2840T 

Mariotti, C., 2764W 

Maris, J. M., 2203T 

Maristany, M., 2578T 

Marjan, E., 1108T 

Marjanovic, D., 3286F 

Marjoram, P., 2153F 

Mark, K., 14 

Markaki, Y., 3500T 

Markello, T., 359, 2610W, 

2870T 

Markello, T. C., 2938W, 

3543F 

Markianos, K., 8, 452W, 

2811F, 3219W 

Markowitz-Shulman, A., 670T 

Marks, H., 2945T 

Markunas, C., 1919F* 

Markus, B., 2931F 

Markus, H. S., 1313W 

Markward, N. J., 642T 

Marle, N., 2729T, 2792T 

Marles, S., 491F 

Marlin, R., 32, 1222T 

Marlin, S., 126, 127, 2727F 

Marlton, P., 1042T 

Marmol, B., 977W 

Marmoset Genome 

Sequencing and Analysis 


Marongiu, M., 547F, 823F*, 

847F, 1516F, 2001W 

Maroo, A., 3616W 

Maroofian, R., 3201W 

Marostica, A., 2659T 

Marosy, B., 3704W, 

3716W*, 3731F, 3733F 

Maroun, L. E., 2411F 

Marqueling, A. L., 2926W 

Marques, A. A., 1037F 

Marques, F. A., 1880F* 

Marques, I., 2631W 

Marques, J. H., 3184F 

Marques, W., Jr., 2425T 

Márquez-Luna, C., 48 

Marrero, A. R., 994T, 

1405F*, 1946F 

Marrosu, M. G., 157 

Marruso, G., 2812W 

Marschall, C., 3539F 

Marsh, C. B., 626T 

Marshall, C. R., 175, 460W, 

2575T, 2932W, 3086F, 

3095W 

Marshall, J. D., 2702T 

Marshall, K., 2158T, 2782W 

Marshall, P., 1848W 

Marsidi, A., 1682T 

Marsit, C., 3465T 

Marsit, C. J., 3629F 

Martell, S., 2977T 

Martelli, L., 941W* 

Martemyanov, K., 2801T 

Marth, G., 41, 3606W 

Martin, A. L., 916T* 

Martin, A. R., 371*, 3411W 

Martin, B., 10, 3213W 

Martin, C., 713F* 

Martin, C. L., Session 77, 

917W 

Martin, E., 1544W, 1681T, 

2820F, 3170F 

Martin, E. R., 344, 347, 

1571W, 1957T, 2445W, 

2498F, 2508W, 2572T, 

2583W, 2586W, 2603F, 

2614T, 2637W, 3390T 

Martin, H. C., 2939T* 

Martin, J., 2046W 

Martin, L., 39, 3177W 

Martin, L. M., 1790W 

Martin, M., 2217W 

Martín, M. G., 296 

Martin, N. G., 106, 212, 351, 

2054F, 2056T, 2133W, 

2175W, 2212T* 

Martin, P., 2231F* 

Martin, T., 1152W 

Martinaud, O., 345 

Martin-Coignard, D., 3129W 

Martinelli, B., 691F 

Martinelli, V., 624T, 2095T, 

2781F 

Martinelli Boneschi, F., 

624T*, 2095T 

Martinet, D., 299 

Martinez, A., 3242F 

Martinez, D., 2614T 

Martinez, F., 536W 

Martinez, J., 864T, 3074F* 

Martinez, J. C., 951W 

Martinez, R. J., 3390T 

Martinez, S., 501F 

Martinez-Agosto, J. A., 361 

Martinez-Barbera, J., 2701W 

Martinez-Barrios, E., 1053W 

Martinez-Cruzado, J. C., 

3315T, 3360T, 3380W 

Martínez-Cruzado, J. C., 

3254W, 3363T 

Martinez-Jarreta, B., 3364F 

Martínez-Jarreta, B., 3402T 

Martinez-Lopez, M. C., 

2019W 

Martinez-Perez, A., 1651T 

Martinovic, J., 77, 894T, 

3129W

Martins, A. S., 2655W 

Martins, M., 1979F*, 2150F, 

2655W 

Martins, M. T., 852F 

Martins-da-Silva, A., 1296T 

Martinuzzi, A., 2799F 

Martis, S., 652T* 

Martos-Moreno, G. A., 

2711T 

Marullo, L., 119, 190, 1308T, 

2076W, 2137T 

Maruyama, H., 3229W 

Marvelle, A. F., 1627T 

Marwaha, R., 3207W 

Marx, R., 2677W 

Mary, P., 3700W 

März, W., 1595T 

Marziali, A., 1264T* 

Marzouka, N., 1881W 

Masaki, N., 2130W 

Maschio, A., 113, 177, 

1451W, 1516F, 2001W, 

2329T*, 3664W 

Mash, D., 368, 2637W 

Mash, D. C., 341 

Mashevich, M., 858T 

Maskeri, B., 1515T 

Maslanski, B., 3002T 

Maslen, C., 1349W, 1700T* 

Maslen, C. L., 1743W, 

2069F 

Masliah, J., 124 

Mason, C., 2610W, 3464T 

Mason, C. E., 376*, 1818F 

Mason, E., 675F 

Mason, T., 1926W 

Mason-Suares, H., 338 

Masotti, C., 813F 

Masri, A., 2937F 

Massam, H., 1500T 

Massé, K., 841F* 

Massey, S., 3254W 

Massicotte, C., 2790F 

Massie, M. J., 1841W 

Massimi, L., 2235W 

Massingham, L., 765W 

Mastronardi, M., 3689F 

Masuda, A., 2472W 

Masuho, I., 2801T 

Masuno, M., 1795W, 2891T, 

3051W 

Masurel-Paulet, A., 2792T 

Masys, D. R., 1312F 

Mata, I., 2538W* 

Matanovic, A., 2102F 

Matar, C., 3241W 

Mateo Leach, I., 110 

Materna-Kiryluk, A., 845F 

Matharoo, K., 1703T 

Mathavan, S., 3047W 

Matheny, J., 384 

Mathern, G., 267 

Matheus, G., 3171W 

Mathews, C., 1480F 

Mathews, D., 1826F* 

Mathews, V., 931W 

Mathias, R. A., 158, 171, 

1425T, 1558F, 1710T, 

1900T, 2043W, 2346W 

Mathiesen, R., 2982T 


Mathieson, I., 16, 3279T, 

3298F* 

Mathieu, F., 259 

Mathieu, J., 2900T 

Mathieu, M., 3117W 

Mathieu, P., 1655T 

Mathieu-Dramard, M., 

3109W 

Matias, R., 2466W 

Matise, T., 2041T, 2216F 

Matise, T. C., 1359T, 2042F, 

3558W, 3566W 

Matisoo-Smith, E., 3349F 

Matisoo-Smith, E. A., 

3333T* 

Matoba, N., 2873T, 

2923W* 

Matoo, S., 1961F*, 1962W 

Matos, A. H. B., 2655W* 

Matsson, H., 1976F* 

Matsubara, Y., 1290T 

Matsuda, F., 2004W, 

2361W 

Matsuda, H., 2697F 

Matsui, T., 2174F 

Matsuishi, T., 724T 

Matsukawa, T., 233* 

Matsumoto, A., 2588F, 

3118F* 

Matsumoto, M., 1447F 

Matsumoto, N., 1290T, 

2822T, 2878W*, 3136F, 

3230F 

Matsumoto, T., 2174F 

Matsumura, Y., 1327F 

Matsunaga, T., 2882T 

Matsunami, N., 2397W* 

Matsuo, H., 663F*, 2371T 

Matsuo, M., 781W 

Matsushita, H., 2687T 

Matsushita, M., 2549F 

Matsuura, E., 2601W 

Matsuura, K., 2130W 

Matta, J., 996W, 1074W 

Matte, U., 691F, 2825T 

Matteini, A. M., 2040W 

Matteson, P., 2216F 

Matteson, P. G., 2426F 

Mattheisen, M., 1536T, 

2520W 

Matthiessen, M., 2057F 

Matthijs, G., Session 20 

Mattiello, A., 1712T 

Mattiske, T., 2640W 

Mättö, J., 2023T 

Matullo, G., 1153T, 1712T 

Matvienko, M., 3528W, 

3641F*, 3662W 

Matyakhina, L., 332 

Mauermann, O., 1115F 

Maues de Paula, A., 328 

Maugard, C., 1212W 

Maurat, E., 716T 

Maurer, M., 2681T 

Maurer, M. A., 1255T 

Maurer-Morelli, C. V., 1903T, 

2373W, 2394W, 2655W, 

3578W 

Maury, P., 2945T 

Maussion, G., 3470T* 


Mautner, V.-F., 2791W 

Mavrothalassitis, G., 218 

Mawatari, Y., 2130W 

Maxfield, A. B., 820F 

Maxfield, K., 3671F 

Maxwell, A. P., 2307W 

Maxwell, T. J., 272*, 340 

May, A., 3619F 

May, A. P., 2301W 

May, M., 2806W 

May, T., 1837W 

Mayani, R., 3558W 

Mayen, D., 928T, 956T 

Mayén, D. G., 875W, 960T 

Mayer, F., 691F 

Mayer, J., 2778F 

Mayerle, J., 2141F 

Mayeux, R., 343, 344, 

1476T, 1571W, 2040W, 

2093F, 2410T, 2498F 

Mayhew, C. N., 736T 

Mayne, K., 385, 1305T 

Mayo, K., 340 

Mayo, P., 1286W, 1316W, 

1377T, 1671T, 1713T 

Mayo, V., 9, 2445W 

Mayr, J., 782W 

Mayr, J. A., 699F, 2917W 

Mayr, M., 3723F 

Maystadt, I., 214, 2810T, 

3181W, 3216F, 3218F* 

Mazery, AC., 104 

Mazloom, A., 3016T 

Mazloom, A. R., 3014T 

Mazor, M., 2738T 

Mazur, D., 3698W 

Mazzetti, P., 2453F 

Mazzeu, J., 2863W* 

Mazzeu, J. F., 903W, 961W 

Mazzilli, M. C., 1330F 

Mazzini, L., 2775F 

Mazzola, L. M., 3702W 

Mazzucatto, l. F., 3099W 

McAdoo, S., 3018T 

McAteer, J., 249 

McBride, D., 3694W 

McBride, K., 1680T* 

McBride, K. L., 1646T 

McCabe, E. R. B., 1867F 

McCabe, L., 1867F 

Mccafferty, S., 2703F 

McCaleb, M., 804W 

McCall, S., 3622W 

McCallie, B. R., 851F, 

2968T* 

McCallion, A. S., 79, 258, 

545F, 818F 

McCandless, S. E., 741F*, 

774W 

McCann, B., 1965W 

McCann, L., 651T 

McCarroll, S., 290, 350, 

480W, 1325W, 2487W, 

2618F 

McCarroll, S. A., 280, 284, 

437F, 1519F 

McCarthy, L. C., 649T 

McCarthy, M., 368, 583F, 

1440T, 1513F, 2097W, 

2162F 

McCarthy, M. I., 44, 119, 

176, 280, 582W, 1308T, 

1519F, 1954T, 2076W, 

2123F, 2137T, 2147F, 

2324F, 3435T, 3441T, 

3575F 

McCarthy, S., 455F, 1518T, 

2590T* 

McCarty, C., 2098T, 3622W 

McCarty, C. A., 618T, 1312F, 

1447F, 2154W, 2240F, 

2263T 

McCauley, J., 151* 

McCauley, J. L., 270, 2039F, 

2049W, 2299T, 3390T 

McClain, L. L., 2125T* 

McClaren, B. J., 143 

McClay, J. L., 3442T, 3452T 

McClellan, B., 1316W, 

1377T, 1928F, 2037W 

McClellan, B., Jr., 1671T 

McClellan, J., 263, 2600F 

McClellan, R., 3065W 

McCole, R. B., 444W* 

McCombie, W. R., 2180F, 

2305T, 2587T, 2590T, 

3316F 

McConnachie, A., 1626T 

McConnell, J. C., 3419T 

McConnell, M. J., 436W 

McCord, R., 255 

McCormick, C., 369, 2372F 

McCormick, J. B., 1849W*, 

2048F, 2345F 

McCracken, J. T., 639T 

McCuaig, C., 778W 

McCulloch, C. E., 589F 

McCullough, A. E., 1186T 

McDade-Walker, D., 3705F 

McDaniel, L., 370 

McDavid, A., 2098T 

McDonagh, E. M., 633T, 

635T* 

McDonald, J., 1058F 

McDonald, K., 3 

McDonald, K. K., 2946F* 

McDonald, M., 2057F 

McDonald, M. N., 2249F* 

McDonald, M. T., 3 

McDonald-McGinn, D., 65, 

1494T, 3038F* 

McDonnell, N., 1663T 

McDonnell, N. B., 3231W 

McDonnell, S., 1214F 

McDonnell, S. K., 986F, 

3564W 

McElhinny, T., 1861F 

McElligott, J., 949W 

McElroy, J., 3030T 

McElroy, S., 605T, 2516F 

McEntagart, M., 2896W 

McEvoy, B., 2223W 

McEvoy, B. P., 2366F 

McEvoy, M., 2133W 

McEwen, J. E., 1845W 

McEwen, R., 503F 

McFadden, D. E., 2986T 

McGarvey, S. T., 2159F 

McGeachie, M. J., 625T* 

McGee, S., 2901F 



McGehee, S., 1702T 

McGhee, S., 1658T, 2065T 

McGillivary, B., 491F 

McGinley, C., 1869F 

McGlynn, K., 213 

McGough, J. J., 639T 

McGovern, D. P., 1381F, 

2319W 

McGowan, B., 3211W 

McGowan, M., 2761W 

McGowan, R., 126, 127 

McGowan, S., 219 

McGowan, S. J., 218, 2746W 

McGrath, J., 2486F, 2573F 

McGrath, J. A., 2461T 

McGrath, J. M., 2576F 

McGregor, T. L., 247, 631T 

McGue, M., 1568W 

McGuffin, P., 2509T 

McGuffog, L., 207, 208 

McGuire, A., Session 25 

McGuire, A. L., 430W, 

1797W, 1798F 

McGuire, M., 904T 

McGuire, M. M., 993W* 

McGuire, P. J., 669F 

McGuire, S. E., 3433T 

McGuire, W., 96 

McHenry, T., 1936T 

McHugh, N., 2160W 

McInerney, P., 3697F* 

McInnes, B., 1052F 

McIntosh, I., 3331F 

McIver, Z., 1259F 

McKay, F., 1748W 

McKay, G. J., 1897T* 

McKay, J., 1012T 

McKay, J. D., 1496W 

McKean, D., 340 

McKee, A. C., 2528F 

McKeigue, P., 1481W, 

1895F 

McKenna, A., 25 

McKenney, A., 2033F 

McKenzie, C. A., 1906T, 

2158T 

McKenzie, K., 303 

McKeon, M., 1687T 

McKew, J., 711F, 1702T 

McKinney, A., 456W, 912T 

McKinnon, M., 3135W* 

McKnight, A. J., 2307W 

McKnight, D., 2579F 

McLaren, P. J., 2050T* 

McLaren, W. M., 3732W 

McLaughlin, H. M., 2470T 

McLaughlin, J., 1061F, 

1803W* 

McLaughlin, S., 1244F, 

3717F 

McLean, C., 483F, 3617F 

McLean, C. Y., 2565W* 

Mclellan, M., 1203W 

McLennan, G., 3014T 

McLeod, D. R., 2800W 

Mcleod, H., 241 

McLeod, H. L., 626T 

McMahon, F. J., 260, 261, 

2622W 

McMahon, K. L., 2054F 


McMahon, S. B., 503F 

McManus, R., 2160W, 

2283W 

McMaster, M. L., 30, 2191T 

McMillin, M. J., 2740W 

McMullen, I., 46 

McMullen, I. A., 1452T 

McNally, E. M., 1614T*, 

1683T 

McNamara, S., 171 

McNeil, D. W., 1464T, 

1474F, 2034W, 2142W, 

2156F, 2178W 

McNeill, N. H., 1684T 

McPherson, J. D., 135, 

1093T, 1227W, 1256F, 

1279T 

McPherson, J. R., 2889F 

McPherson, R., 1645T, 

2236T 

McQueen, M. B., 2239T 

McQuillan, R., 1383T, 

1481W, 2366F 

McSweeney, K. M., 339, 

2879T* 

McTague, A., 1773W 

McVean, G., 16, 285, 472W, 

3279T, 3298F 

McVicar, K., 3119W 

McWilliams, R., 603T 

Md-Zain, B. M., 3267T 

Meaburn, E. L., 3487T 

Mead, M., 2325W 

Meader, S., 445F* 

Means, D., 868T 

Mearin, M. L., 1330F 

Mechanic, L., 1543F 

Mechawar, N., 2482T, 

3470T 

Meck, J., 332 

Mecklin, J.-P., 1026W, 

1276T 

Meda, S., 2532W 

Medeira, A., 3165W 

Medeiros, P., 2289W 

Medeiros, P. F. V., 747F, 

2642F 

Medina, E., 2251T 

Medina, M., 1442W 

Medina, M. W., 601T, 615T 

Medina-Gomez, C., 2169W 

Medina Gomez, M. C., 

1334W* 

Medland, S. E., 351*, 2054F, 

2056T, 2505W 

Medne, L., 1702T, 1781W, 

2884W 

Medrano-Hernández, A., 

1131W 

Meduri, D., 583F 

Meduri, E., 44, 3441T, 

3453T 

Meehan, B., 1182W 

Meek, I., 3138F* 

Meese, E., 515F 

Mefford, H., 2890W 

Mefford, H. C., 10, 2789T, 

2897T 

Mefford, J., 1548T*, 2258F 

Mefford, J. A., 1250F 

Megarbane, A., 84, 2692W, 

2937F, 3241W 

Meguro-Horike, M., 3497T, 

3498T* 

Mehaffey, M. G., 1068W 

Mehdi, S. Q., 3322F 

Mehdipour, P., 1169F 

Mehravar, E., 682T 

Mehrdad, K., 777W 

Mehrotra, P., 2926W 

Mehrtashfar, S., 1615T* 

Mehta, A., 492W, 2603F 

Mehta, A. B., 772W 

Mehta, D., 1422T, 2483F* 

Mehta, G., 3558W 

Mehta, G. R., 3692W* 

Mehta, L., 3033T, 3145W* 

Mehta, S., 3172F 

Mehta, S. G., 3213W 

Mehta, T. Y., 2731W 

Mei, H., 459F, 652T, 958T*, 

3488T 

Mei, J., 159, 2617T 

Mei, R., 369, 2372F 

Meigs, J. B., 269, 1346W, 

2080T, 2106W, 2337W 

Meijer, I. A., 2591F 

Meijers-Heijboer, H., 98, 

494W, 3200F 

Meikle, P. J., 2308T 

Meire, F., 539F 

Meirelles, O., 276, 1391W* 

Meisinger, C., 2595W 

Meisler, M. H., 2463W, 2471F 

Meissner, A., 380, 2107T, 

3450T 

Meitinger, T., 86, 275, 567F, 

582W, 699F, 782W, 

2567F, 2568W, 2595W, 

2917W 

Mejia, L., 2705T 

Mejias, R., 2566T 

Mejia-Santana, H., 442W 

Mekonnen, E., 3322F 

Melaragno, M., 896T, 899W, 

3131W 

Melaragno, M. I., 2533T, 

2534F, 3045W* 

Melbye, M., 1528F, 3028T 

Melegh, B., 3283F* 

Melegh, B. I., 3283F 

Melen, E., 2167T, 2168F 

Melendez, C., 3377W 

Meléndez, R., 875W, 960T 

Melin, B. S., 1372F 

Melki, J., 54*, 1796W 

Mellgren, G., 3536W 

Mellgren, S. I., 2965W 

Mello, M., 2404T 

Mellone, S., 2827W 

Mells, G. F., 153 

Melnick, A., 3464T 

Melnyk, S., 1459F, 3697F 

Melo, M. B., 426W, 2286W, 

2718F*, 2751F 

Melone, M., 2950W 

Meloni, A., 823F, 2001W 

Meloni, I., 2604W 

Meloni, V., 899W 

Melton, P. E., 1406W, 2061W* 

Meltz Steinberg, K., 375* 

Melzer, D., 2148W 

Memari, Y., 503F 

Members of Groupe 

d’Étude des Tumeurs 

Endocrines, 1293T 

Members of Mouse 

Genetics Project, 2725W 

Menaa, F., 426W 

Menard, A., 438W 

Menashe, I., 446W* 

Mencarelli, M. A., 2604W 

Menchón, J. M., 2593T 

Mencikova, A., 2831T 

Menck, C. F., 814F 

Mendell, J., Session 76 

Mendell, N. R., 1338T 

Mendes-Júnior, C., 3261T 

Mendes-Junior, C. T., 

3277F, 3280F 

Mendes-Júnior, C. T., 3375T 

Mendez, F. L., 3389W* 

Mendez-Dominguez, N., 

2272T 

Mendez-Ramírez, N., 1030T 

Mendola, A., 1611T 

Mendonça, F., 1968W, 

2017T 

Mendoza, L., 1049F 

Mendoza, R., 3196F 

Mendoza-Constantino, S. 

P., 875W 

Mendoza-Londono, R., 103, 

1738W, 3100F*, 3106F, 

3183W 

Mendus, D., 2773W 

Menelaou, A., 91* 

Menendez, I., 3125W 

Meneses-Morales, I., 3504T 

Meng, W., 2843T 

Meng, Y., 2307W* 

Mengel-From, J., 2244W, 

2295W 

Menghini, D., 3087W 

Mengrelis, K., 2752W 

Menke-Pluymers, M., 

1788W 

Menni, C., 503F, 2138F 

Menon, R., 2572T, 3030T 

Mensenkamp, A. R., 1220F* 

Mentch, F., 319, 2229W, 

2252F, 2872W, 3573F 

Mentch, F. D., 1997F, 

2121W, 2546F 

Menten, B., 98, 423F, 2387F 

Mentzen, W., 1516F 

Menzin, A., 1133F 

Meola, N., 2950W 

Merath, K., 1667T* 

Mercado, D., 2043W 

Mercado, T., 1036T 

Mercedes de la Cruz, F., 

3363T 

Mercer, F., 3708W 

Mercer, K. B., 1422T, 2420F, 

2483F, 3480T 

Mercier, E., 447F*, 517F, 

3568W 

Mercier, S., 2893W, 3066F*, 

3170F

Mercimek- Mahmutoglu, 

S., 717F 

Merck-Laval-UBC-Groningen 

Lung eQTL Consortium, 

1947W 

Merckx, D. M. L., 2448W 

Meredith, G., 3717F* 

Mergener, R., 879W 

Merico, D., 2617T 

Mericq, V., 131 

Merideth, M. A., 2838F 

Merkies, I. S. J., 2448W 

Merkoulovitch, A., 460W 

Merla, G., 84, 775W, 

3087W*, 3256F 

Merner, N., 1898F 

Merrick, C., 1082F* 

Merrill, A. E., 838F, 2857W 

Merrill, D., 1195T 

Merrill, J. T., 1979F, 2046W 

Merrill, L., 512W, 3517T 

Merriman, B., 2779W 

Mersha, T., 578W* 

Mertz, E. L., 222 

Mervis, C. B., 3482T 

Mesa, R. A., 1017W 

Meskel, D., 3303T, 3338W 

Meslin, E. M., 1848W 

Messaed, C., 2842W 

Messiaen, L., 1139F, 2791W 

Messika-Zeitoun, D., 1655T 

Messinger, Y., 132 

Mester, J., 1144T 

MetaXpress Consortium, 

275 

Metay, C., 1796W 

Métay, C., 894T 

Metayer, C., 2268W 

Metcalf, J. L., 1046F 

Metcalfe, S. A., 143* 

Metlapally, R., 2328W, 

3521T* 

Metrustry, S., 2292W 

Metrustry, S. J., 2171F* 

Metsepalu, A., 1284T, 

1503T 

Metspalu, A., 109, 584W, 

1163F, 1792W, 1832F, 

2144F, 2165F, 2175W, 

2366F, 3079W, 3353W, 

3460T 

Metspalu, E., 3286F 

Metzker, M. L., 244 

Meugnier, E., 2278T 

Meulenbelt, I., 584W 

Meurer, L., 691F 

Mewes, H. W., 86 

Mexal, S., 1736W, 3535F, 

3681F 

Meyer, A., 1117T, 3425T 

Meyer, B. F., 2676F 

Meyer, D., 3292F 

Meyer, E., 1773W 

Meyer, F., 691F 

Meyer, I., 2751F 

Meyer, K., 376 

Meyer, K. B., 209 

Meyer, M., 1441F 

Meyer, N., 2867T 

Meyer, N. C., 2301W 


Meyers, J. L., 2022W* 

Meyers, K. J., 2020T 

Meyers, L., 3557F 

Meyle, J., 2058W 

Meyn, M. S., 1046F*, 

1047W, 1050W 

Meyn, S., 1055F 

Meza, C., 1336F 

Mezey, J. G., 1355W, 2933T, 

3399W 

Mhaidat, N., 856T 

Mhanni, A., 954T 

Mhanni, A. A., 2422T, 2772F 

MHC Disease Research 

Group, 3258T 

Mhiri, C., 2820F 

Mhlanga-Mutangadura, T., 

2847F 

Miano, M. G., 505F, 2629T 

Mias, G. I., 1505W* 

Micale, C., 3680W 

Micale, L., 775W*, 3087W, 

3256F 

Miceli-Richard, C., 2084F 

Micha, D., 809F 

Michaeel, A., 3210F 

Michaelides, M., 3212F 

Michaeli-Yossef, Y., 3048F 

Michaelson, J., 480W* 

Michaelson-Cohen, R., 

2929W 

Michailidou, K., 206*, 209, 

210, 1150T 

Michaud, J., 2075F, 2794W 

Michaud, J. L., 2692W, 

2790F 

Michaux, D., 1205F 

Michealraj, A., 2941W 

Michel, L., 29 

Michel, M., 642T 

Micheli, R., 760W 

Michelini, K., 2 

Michelis, L. D., 2958F 

Michels, V. V., 1695T 

Michelson, M., 3048F 

Michelson-Kerman, M., 

3174F* 

Michetti, F., 2235W 

Michiorri, S., 71 

Michot, C., 127 

Micliavacca, M. P., 2485T 

Middha, S., 1214F, 1695T, 

3564W* 

Middlebrooks, C. D., 253* 

Middleton, M., 133 

Middleton, S., 242 

Mieczkowski, P., 3659F 

Miele, L., 1116W 

Migita, O., 2620T 

Migliavacca, E., 62*, 84, 

415F, 3256F 

Migliavacca, M., 3131W* 

Migliavacca, M. P., 2484W 

Mignot, C., 2770W 

Mignot, C. C., 2431T*, 2441F 

Mignot, E., 2543F 

Mihovilovic, M., 2465F 

Mikhailov, A., 2398T, 2570F 

Miklos, D. B., 1112F 

Mikula, M., 2260T* 


Mila, M., 2624F*, 2630F, 

2940F, 3217W 

Milan, G., 1985F, 2702T 

Milani, L., 3460T 

Milani, P., 2775F 

Milanova, V., 3477T 

Milas, M., 1144T 

Milburn, J., 142 

Miles, S., 96 

Miles-Mason, E., 168 

Milewicz, D., 1789W 

Milewicz, D. M., 1743W 

Milgram, R., 1303F 

Milgrom, R., 2875W 

Milh, M., 2536T* 

Mili, A., 1751W* 

Mili, F., 611T* 

Milic Rasic, V., 201, 2948T 

Mill, J., 3471T*, 3476T, 

3487T 

Millan, J., 2947W 

Millar, K., 3075W* 

Millen, A. E., 2020T 

Miller, B., 2249F 

Miller, B. L., 2639F 

Miller, D. G., 55*, 2224T 

Miller, E., 1674T 

Miller, E. M., 2698W 

Miller, F. A., 142, 1824F 

Miller, F. W., 434W 

Miller, J., 2904F, 3590W, 

3717F 

Miller, J. K., 1279T* 

Miller, L. L., 1973F, 2010W 

Miller, M., 2953W 

Miller, M. A., 494W, 1239W 

Miller, M. R., 1322W 

Miller, N., 3490T 

Miller, N. A., 366, 2793F, 

2894T 

Miller, N. H., 1983W 

Miller, P., 1107W 

Miller, R. A., 818F 

Miller, S., 1937F* 

Miller, S. I., 2186F 

Miller, W., 3545F 

Millikan, R. C., 2202W 

Millonig, J., 2216F, 2467T 

Millonig, J. H., 2426F, 3566W 

Mills, J. L., 2151W 

Mills, P. B., 167 

Mills, R., 147 

Mills, R. E., 3251W 

Mills, T., 2157W 

Millson, A., 3220F* 

Millwood, I. Y., 2162F 

Milne, R. L., 206 

Milner, L. C., 1804F* 

Milon, J., 3170F 

Milosavljevic, A., 432W, 

3433T 

Milstone, L., 2915T 

Milz, E., 3214F 

Mimori, T., 2004W 

Mimouni-Bloch, A., 731F 

Min, B., 933W*, 3204F 

Min, J., 583F 

Min, J. L., 1522F* 

Min, W., 947W 

Mina, D., 2728W 

Minakuchi, T., 2768T 

Minakuchi, Y., 2835F 

Minari, J., 1815W* 

Minatoya, K., 2697F 

Miner, T., 2325W 

Ming, J. E., 819F, 2884W 

Mingroni-Netto, R. C., 891W 

Miniati, D., 816F 

Minillo, R. M., 2484W 

Minna, J., 1454W 

Minor, L. B., 2301W 

Minot, D., 2770W 

Minster, R. L., 1920W, 

1921T, 2159F* 

Minto, M., 3717F 

Minx, P., 2320T 

Miny, P., 3044F, 3109W 

Miousse, I. R., 719F 

Mira, M., 1899W 

Mira, M. T., 1978T, 2289W, 

2475W 

Mirabelli, D., 1153T 

Miralles, M., 2379W 

Miranda, D., 2404T 

Miranda, D. M., 1902W, 

2385W 

Miranda, M. L., 1636T 

Mirante, T., 2766F, 2774T 

Mirel, D., 356, 1447F, 

1490W, 2098T 

Mirel, D. B., 1960T 

Miri Nargesi, M., 1083W* 

Mirkin, S., 402 

Mirkov, S., 613T 

Miro, X., 105 

Mirocha, J., 753T 

Miron, I., 3013T 

Mirsattari, S. M., 2779W 

Miryounesi, M., 1169F, 

2987T* 

Mirzozoda, K., 1898F*, 

2410T 

Misawa, K., 3565F* 

Mishra, A., 764W, 1287T, 

1288F, 1587T*, 1598T 

Misner, K. J., 1242W 

Misra, A., 555F 

Misra, S., 1188W 

Missmer, S. A., 2077T, 

2133W 

Missoni, S., 1660T 

Mistri, M., 700T* 

Mistri, M. A., 2803W 

Mistry, P. K., 768W, 769W 

Mitchell, A., 1665T 

Mitchell, A. A., 2576F 

Mitchell, A. D., 2218T 

Mitchell, B. D., 602T 

Mitchell, E. B., 2575T 

Mitchell, F., 239 

Mitchell, G., 1224W, 1492F 

Mitchell, J. A., 1307W 

Mitchell, M. E., 3020T 

Mitchell, P., 2068T, 2094W 

Mitchell, S., 1713T* 

Mitchison, H. M., 216, 809F 

Mitrovic, Z., 201, 2948T 

Mitsui, J., 52, 233, 2409W, 

2569T 

Mitsunaga, E., 1505W 



Mitsunaga, S., 2253W 

Mitsuuchi, F. N., 2751F 

Mittal, B., 1137W, 1188W, 

1587T, 1598T*, 2293T, 

3271F 

Mittal, K., 2398T, 2525F* 

Mittal, R. D., 1123T*, 

1134W, 1135T 

Mittal, S., 2967T 

Mittal, T., 1587T, 1598T 

Mittelman, D., 469F 

Mittelstadt, S. D., 696T 

Mitterling, T., 2567F 

Mittleman, M. A., 3469T 

Miura, K., 2748F 

Miwa, A., 729F 

Miya, F., 396 

Miyachi, H., 1574W, 2747T 

Miyada, G., 3699F 

Miyadera, H., 1994F* 

Miyagawa, T., 2496W, 2656T* 

Miyahara, R., 1998W*, 

1999T 

Miyakawa, S., 2911W 

Miyakawa, T., 2550W, 

2647T 

Miyake, K., 2835F 

Miyake, M., 3146F 

Miyake, N., 1290T, 2822T, 

2878W, 3136F, 3230F 

Miyamoto, R., 3229W* 

Miyamura, H., 475F 

Miyano, S., 396 

Miyatake, S., 1290T* 

Mizokami, M., 2130W, 

3682W 

Mizrahi-Man, O., 2031W 

Mizumoto, S., 2861T, 3230F 

Mizuno, S., 1795W, 2758W, 

2891T, 3043W, 3094F* 

Mizuno, Y., 2873T 

Mizuochi, T., 724T 

Mizusawa, H., 2371T 

Mizutani, S., 3091W 

Mladenov, E., 3500T, 3524T 

Mlikotic, A., 785W 

Mlynarski, W., 2703F 

Mo, F., 491F 

Moalem, S., 3156F* 

Moayyeri, A., 2138F 

Moazami, N., 1056W 

Mobasheri, M., 1169F 

Mochel, F., 2539T* 

Mochida, G. H., 8 

Moctezuma-Meza, C., 

1168T 

Modarressi, M. H., 1169F, 

2987T 

Modig, L., 1970F 

Moe, T., 3034T 

Moen, E. L., 3472T* 

Moeschler, J., 3176F* 

Moffatt, M. F., 1361W, 

2102F, 3466T, 3469T, 

3486T 

Moggio, M., 1776W 

Moghadam, M., 1615T 

Moghaddam, M., 1961F, 

1962W, 2964F 

Moghaddasi, M., 3197W 


Mohamdi, H., 1158W 

Mohamed, A. N., 885W 

Mohamed-Hadley, A., 

1992W, 2492F* 

Mohammad, A., 1061F 

Mohammadi, M., 679F 

Mohammadi Fatideh, M. J., 

3083W 

Mohammed, N., 1352W, 

1589T 

Mohammed, S., 3211W 

Mohammed, S. N., 218 

Mohan, G., 2776W 

Mohan, R., 481F 

Mohan, V., 878T* 

Mohila, C. A., 834F 

Mohlke, K. L., 46, 117, 292, 

304, 1427W, 1608T, 

1627T, 1954T, 2012F, 

2090F, 2123F, 2147F, 

2241W 

Mohr, D. W., 79, 1254W 

Mohsen, A.-W., 662T, 733F 

Moi, P., 2001W 

Mokhonova, E., 1685T 

Mokhtarani, M., 774W 

Mokrejsova, M., 3437T 

Molck, M. C., 959W* 

Mole, D., 509F 

Molecular Genetics 

of Schizophrenia 


Molenda, A., 1257W 

Molfetta, G. A., 1037F*, 

1038W, 2813T 

Molina, B., 875W, 928T, 

960T, 976T, 1048T 

Molina, F., 2685F 

Molina, J., 2672T 

Molina, L., 2685F 

Molina-Gomes, D., 890T 

Molineros, J., 3253F* 

Mollema, N., 2625W* 

Møller, LB., 702T 

Moller, M., 2217W 

Möller, M., 2007W*, 3385F 

Mollet, I., 47 

Møllgård, K., 805F 

Mollon, J., 2082W 

Mollon, J. E., 1470T* 

Momčilovič, D., 2438F 

Momigliano-Richiardi, P., 

2827W 

Momin, S., 1108T 

Momma, K., 755W 

Momohara, S., 2004W, 

2287T 

Momoi, M. Y., 2588F, 3118F 

Monare, L. R., 1085F 

Moncaster, J. A., 2528F 

Moncla, A., 2792T 

Monda, K. L., 2131T 

Mondal, A. K., 2011T 

Mondal, K., 2312F 

Mondesert, B., 1678T 

Mongini, T., 1776W 

Mongrain, I., 3401W 

Moninger, T. O., 404 

Monk, D., 3499T 

Monlleó, I. L., 479F, 2270F 

Monlong, J., 567F 

Monnot, S., 72 

Monos, D., 2904F 

Monos, D. S., 1915T 

Mønsted, S., 3641F, 3662W 

Montaño, A., 786W 

Montazer Zohori, M., 

2013W 

Monte, T. L., 2424W, 2626T 

Monteiro, A. N. A., 1156T 

Montenegro, M. A., 2393F 

Monterrubio-Ledezma, C. 

E., 3188F 

Montesclaros, L., 3690W 

Montgomery, C. G., 529F, 

1895F, 2084F, 2188T 

Montgomery, G., 1072T, 

2165F 

Montgomery, G. W., 212, 

351, 2054F, 2056T, 

2077T, 2133W, 2212T 

Montgomery, S., 568W, 

2372F 

Montgomery, S. B., 369, 

371, 527F, 547F, 561F, 

3411W 

Monti, E., 3256F 

Montiel, M., 951W, 3074F 

Montine, T., 2498F*, 2538W 

Montine, T. J., 2646W 

Montpetit, A., 277 

Montsaroff, S. Z., 195 

Moody, H., 1773W 

Moog, U., 300, 2403W, 

2595W, 3111W 

Mook, O., 1616T*, 3650W 

Mook, O. R., 681F 

Mookherjee, S., 2680W* 

Mook-Kanamori, D., 2162F 

Mook-Kanamori, D. O., 228 

Moon, J., 866T, 867W, 

3112F*, 3473T* 

Moon, J. W., 3423T 

Moon, S.-U., 2834T 

Moore, A. T., 2072F, 3212F 

Moore, B., 195, 3561F 

Moore, B. T., 3081W 

Moore, C., 3542W 

Moore, C. B., 3624W* 

Moore, D. T., 1245W, 3527F, 

3687F 

Moore, G. E., 303, 2752W, 

2755W, 3501T, 3508T 

Moore IV, H. E., 2543F 

Moore, J., 3465T 

Moore, J. C., 2433W 

Moore, J. H., 188, 1339F*, 

1453F, 3275W 

Moore, L., 1012T 

Moore, L. E., 1092W 

Moore, L. G., 3290W 

Moore, M., 2148W 

Moore, R., 3642W* 

Moore, S., 2945T 

Moore, S. J., 454W 

Moorman, A. V., 1024T 

Moors, T., 774W 

Moortgat, S., 3181W, 3216F, 

3218F 

Moosavi, A., 1726W* 

Mooser, V., 106, 1281T 

Mootha, V. K., 326 

Mora, L., 3035W* 

Mora, T., 597F 

Morad, T., 1165T 

Moradi Chaleshtori, M., 892T* 

Moraes, E., 2404T 

Moraes, M. O., 2289W 

Morais, S., 2818W 

Morales, A., 1681T* 

Morales, L., 1074W 

Morales, M. A., 1770W 

Moralli, D., 509F 

Moran, J., 1325W, 2487W 

Moran, J. L., 290, 2618F 

Moran, K., 140 

Morandi, L., 1776W 

Morava, E., 672T* 

Morcet, J., 2126F 

Moreau, A., 1784W, 2234F 

Moreau, C., 1478W 

Moreau, M., 2114F, 2170T 

Morehouse, R., 107 

Moreira, B. C., 2434T 

Moreira, M., 896T, 899W 

Moreira-Filho, C., 899W 

Moreland, L. W., 2047T 

Morell, R. J., 2724F 

Morello, R., 2854W 

Moreno, L., 2325W 

Moreno, L. M., 1564F, 1937F 

Moreno, O., 951W, 3049W 

Moreno, S., 259 

Moreno, T., Session 9, 

1825W 

Moreno-De-Luca, A., 2439W* 

Moreno-De-Luca, D., 13, 

917W 

Moreno-Estrada, A., 186, 

3352F, 3380W 

Moreno Estrada, A., 2033F, 

3360T, 3390T* 

Moreno-Garcia, M., 848F* 

Moreno-Macías, H., 48 

Moretti, E., 3050F 

Morfopoulou, S., 3600W* 

Morford, L., 1147T*, 2243F 

Morgan, A. T., 3228F 

Morgan, C. T., 1705T 

Morgan, D., 385 

Morgan, D. J., 1305T 

Morgan, J., 983F 

Morgan, T., 730T*, 3030T 

Mori, K., 2129F 

Mori, M., 2873T 

Morice-Picard, F., 473F 

Morigaki, R., 52 

Morimoto, M., 2849T* 

Morimura, T., 234 

Morin, C., 778W 

Morin, G., 3117W 

Morino, H., 3229W 

Morioka, I., 729F 

Morisaki, H., 2697F* 

Morisaki, T., 2697F 

Morishita, S., 2409W, 2569T 

Morissette, R., 1663T* 

Morita, M. E., 2394W 

Morita, S., 1290T 

Moriuchi, H., 1999T

Moriyama, N., 3136F 

Moriyama, Y., 2873T 

Morizono, H., 669F 

Morizono, T., 2051F, 2174F 

Morken, M. A., 304 

Morlan, J., 1198T 

Morleo, M., 2810T 

Morley, K., 101, 364 

Morley, K. I., 35, 291 

Morley, M., 535F 

Moroi, S., 2135F, 2154W 

Moroi, S. E., 2240F, 2263T 

Morren, M.-A., 2926W 

Morris, A., 119, 2077T 

Morris, A. D., 609T 

Morris, A. P., 49, 111*, 169, 

190, 269, 1308T, 1954T, 

2070W, 2073W, 2076W, 

2123F, 2133W, 2137T, 

2147F 

Morris, C. A., 3482T 

Morris, D., 2590T 

Morris, D. L., 3382F 

Morris, J. A., 37* 

Morris, M. A., 1874F 

Morris, N., 1376W 

Morris, N. J., 1575T 

Morris, R. W., 1626T, 3390T 

Morrison, A., 349, 1346W 

Morrison, A. C., 121, 174*, 

1585T 

Morrison, B. E., 508W, 565F 

Morrison, C., 3428T 

Morrison, H., 4 

Morrison, J., 1477F* 

Morrison, K. E., 348 

Morrison, M., 385 

Morrison, M. A., 1305T, 

2183F 

Morrison, S. M., 1859F* 

Morrissey, K. M., 246 

Morrow, B., 1494T, 1658T, 

3531F 

Morrow, E. M., 8, 452W 

Morse, M., 1869F 

Mortensen, A. H., 1878W 

Mortier, G., 79, 98 

Mortier, G. R., 80, 298, 

3129W 

Mortlock, D. P., 837F, 3275W 

Morton, C., 2562W 

Morton, C. C., 68, 70, 82, 

284, 554W, 862T, 2056T 

MOSAIC and GenISIS 

Investigators, 1507F 

Mosca, S., 3095W* 

Mosca-Boidron, A.-L., 

2729T, 2770W, 2792T 

Moseley, K., 237 

Moser, A., 722T 

Moser, K. L., 1979F, 2046W 

Moser, M., 368 

Moser, T., 1, 59 

Moser Sivils, K., 529F, 

2084F, 2188T 

Moses, D., 2916F 

Moses, E., 1280W 

Moses, E. K., 1282F, 

1406W, 2061W, 2309F 

Moskovtsev, S., 2982T 


Moskowitz, I. P., 82 

Mosley, J. D., 1345F* 

Mosley, T. H., 1592T 

Mosnier, J. F., 1204T 

Mosor, M., 1184F 

Moss, A., 2804T 

Mosser, J., 2126F*, 2893W, 

3170F 

Mostacciuolo, M. L., 

1732W, 2799F 

Mostafavi, S., 369, 2372F* 

Mostile, G., 2763F 

Mota, F. M., 2288F 

Motahari, B., 1056W, 

1124F* 

Motahari, M. M., 3163W 

Mota-Vieira, L., 2288F, 

2814F* 

Motazacker, M. M., 2205W* 

Motghare, P., 307 

Motley, C., 133 

Motovalibashi, M., 1421W 

Motoya, S., 2174F 

Motoyoshi, Y., 3091W 

Mott, R., 355 

Motti, J. M. B., 3362W 

Motulsky, A. G., 1605T 

Mou, Y., 1251W 

Mouanoutoua, M., 1146W, 

1195T 

Mouassess, F., 1490W 

Mouga, S., 2417F, 2502W 

Mougou-Zerelli, S., 403, 

944T 

Moult, J., 499F 

Moulton, K., 3700W 

Mouly, V., 2840T 

Mountain, J., Session 9, 

179, 1825W 

Mountain, J. L., 114, 626T*, 

1017W, 1782W, 1838F, 

2087F, 2089T, 2100W, 

2111F, 2115W, 2149T, 

3386W 

Mourah, S., 29 

Mouri, K., 2380T 

Mouritzen, P., 1194W* 

Mousavy Gharavy, S., 

2701W 

Moustafa, K., 259 

Mouton, S., 104 

Moutsianas, L., 169 

Mouzaya, F., 3349F 

Movva, S., 1720W, 2754F* 

Mowat, D., 843F, 3167W 

Mowery-Rushton, P. A., 

3101W* 

Mowrey, P., 953W 

Mowrey, P. N., 945W 

Mowry, E., 1289W, 1301W, 

1414F* 

Moy, T. F., 1652T 

Moy, W., 1282F 

Moya, P. R., 261* 

Moylan, C., 531F 

Moysés, M., 3131W 

Mozaffar, T., 3213W 

Mrkonjic, M., 3478T 

Mrowietz, U., 154 

Msilaty-Gross, S., 731F 


Mucaki, E. J., 3672W 

Mucci, T., 3033T 

Muchmore, B., 1155W 

Mudd, P. N., Jr., 732T 

Muddashetty, R., 540W 

Mudgal, P., 2332T 

Mudge, J. M., 367* 

Mueller, D., 628T 

Mueller, D. M., 326 

Mueller, K. L., 1973F, 3735F 

Mueller, U., 2416T* 

Mugge, S., 2493W 

Muglia, L., 3030T 

Mugnaini, E., 2427W 

Mugneret, F., 2729T 

Mugniery, E., 763W 

Muhammad, E., 1588T* 

Mühleisen, T. W., 259 

Muilu, J., 3610W 

Muir, K. R., 2292W 

Mujahid, S., 3211W 

Mukaddes, N. M., 8 

Mukerji, M., 3332W 

Mukhatira, P., 3656W, 

3703F 

Mukherjee, S., 17, 264*, 

342, 1514W 

Mukherjee Dey, S., 1097F 

Mukhopadhyay, N., 253, 

1315F, 2178W* 

Mulas, A., 113, 157, 177, 

547F, 1451W, 1516F, 

2198F, 2329T 

Mulchandani, S., 3082F 

Mulder, F., 431F 

Mulder, L., 3310F 

Mulle, J., 2069F 

Mulle, J. G., 66, 1349W, 

2312F, 2576F* 

Mullegama, S. V., 103* 

Mullen, L., 1256F 

Muller, A., 684T, 1949F 

Müller, B. F., 782W 

Müller, C., 275, 1669T, 

2759T 

Muller, R., 3720W* 

Muller, S., 3316F 

Müller, T., 201, 2948T 

Müller, U., 2581T 

Muller, Y. L., 1300F* 

Muller-Cohn, J., 3720W 

Müller-Myshok, B., 2483F, 

2568W 

Müller-Quernheim, J., 

2103W 

Mullighan, C. M., 31 

Mulliken, J. B., 83 

Mulliken, N., 1015T 

Mullikin, J., 358, 1515T, 

3306T 

Mullikin, J. C., 1690T, 

1696T, 2938W 

Mullin, K., 2520W 

Mullinax, B., 975W 

Mullins, J. G., 262, 2821W 

Mullins, M., 626T, 2087F 

Mullins, M. E., 2127W* 

Mullins, R. F., 2215T 

Mulukutla, .S., 2083T 

Mulvihill, J., 1875F* 

Mumm, S., 2864T 

Mumoli, L., 2780T 

Mumy, A., 1092W, 1094F, 

1155W* 

Munafo, D., 512W*, 3517T 

Munafo, D. B., 3702W, 

3715F 

Münchau, A., 200 

Munchel, S., 596W, 1238F 

Mundlos, S., 298 

Mundorff, J., 1958F 

Mundwiller, E., 2820F 

Mungall, C. J., 2725W 

Munger, R., 1564F 

Munger, R. G., 1472W, 

3643F 

Munhoz, R. P., 2475W 

Munier, P., 522W 

Munir, K., 1746W 

Muniz, Y. C. N., 994T*, 

1405F, 1946F 

Munnich, A., 72, 104, 126, 

127, 202, 324, 325, 329, 

390, 403, 522W, 763W, 

915W, 2808F, 3129W, 

3172F, 3240F 

Muñoz, X., 987W 

Muñoz-Montero, S., 1129T 

Munroe, P. B., 1659T 

Munshi, A., 224* 

Munson, J., 2406W 

Munson, P., 584W 

Munson, P. J., 260 

Muntoni, F., 2812W 

Munzel, T., 1669T 

Munzy, D., 2908W 

Muona, M., 2898F* 

Mur, A., 3217W 

Murabito, J., 2165F 

Murabito, J. M., 2336F 

Murakami, T., 2836W 

Murakami, Y., 298, 2559W 

Murali, R., 998F, 999W 

Murali, S. G., 710T 

Muramatsu, Y., 3094F 

Murata, K., 2130W 

Murata, M., 2619W 

Murayama, K., 2873T 

Murayama, S., 52, 2409W 

Murdoch, B., 250 

Murdock, D., 2802F 

Murdock, D. G., 1713T 

Mureau, M., 1788W 

Murgia, A., 1755W, 2795T 

Murgia, F., 2062T, 2128T* 

Muroya, K., 1795W, 2891T 

Murphy, A., 2014T 

Murphy, A. B., 1009T 

Murphy, D. L., 261 

Murphy, H., 127 

Murphy, K. G., 1834F 

Murphy, P., 3125W 

Murphy, S., 531F 

Murphy, T., 750T 

Murphy Bollinger, J., 1829W* 

Murray, A., 1021T, 2148W, 

2165F 

Murray, D., 1854F* 

Murray, J., 1882T, 2325W, 

3030T, 3537F 



Murray, J. C., 74, 94, 1344T, 

1472W, 1512T, 1564F, 

1937F, 2762T, 3028T 

Murray, R. F., Jr., 1821W 

Murray, S., 983F 

Murray, S. S., 2274W 

Murray, T., 1472W, 2043W 

Murtha, A., 3 

Murtha, M., 2605T 

Murty, V. V., 1031F 

Murugan, A., 597F* 

Musani, S., 178, 350, 2063F, 

2210F 

Musani, S. K., 2275T* 

Muscat, J. E., 1016F, 

1107W 

Musci, T., 2978T* 

Musharoff, S., 3352F, 

3361F* 

Mushiroda, T., 627T 

Musio, A., 2695W* 

Musk, A. W., 1465F 

Musolf, A., 1359T* 

Mussini, J. M., 3066F 

Musson, D., 784W 

Mussotter, T., 939W* 

Mustalahti, K., 2177F 

Mustapha, M., 1878W, 

2773W* 

Mustill, W., 2966T* 

Mutai, H., 2882T 

Mutarelli, M., 2950W 

Mutesa, L., 925W*, 3104F 

MuTHER Consortium, 44, 

583F, 1440T, 2187W 

Muthusamy, B., 3316F 

Muthuswamy, S., 2446T* 

Muti, C., 56 

Muto, K., 1819W, 1830F*, 

1833W 

Muzny, D., 174, 183, 360, 

1585T, 1599T, 1742W, 

2798T, 2880F*, 2934F, 

3597F 

Muzny, D. M., 3, 314, 595F, 

648T, 1221W, 1735W, 

1757W, 1761W, 2413T, 

2883F 

Muzzio, M., 293, 3362W*, 

3380W 

Mychaleckyj, J., 1971W, 

2210F 

Mychaleckyj, J. C., 1662T, 

2313W 

Myerburg, R. J., 86 

Myers, A., 380 

Myers, L., 80 

Myers, M., 1059W* 

Myers, R. H., 1964F, 2116T, 

2227T, 2643W 

Myers, R. M., 2556W 

Myers, S., 181, 3360T 

Myers, S. M., 2439W 

Myhre, R., 3028T 

Myking, S., 3028T 

Myllymäki, M., 3297T 

Myouzen, K., 2004W* 

Myres, N., 3321T*, 3340F, 

3365W 

Mysliwiec, V., 2221T 


Mysore, J. S., 1964F 

Myung, C., 2849T 

N 

Naab, T., 1242W 

Näbauer, M., 86 

Nabbout, R., 202 

Nabika, T., 1333F 

Nacak, M., 1402F, 1935W, 

1938W* 

Nadeau, K., 2322W 

Nadel, L., 2529W 

Nadel, M., 3656W, 3703F 

Nadif, R., 1461T* 

Nading, E., 2328W 

Nadji, A., 2150F 

Naeem, T., 2920W 

Naess, K., 672T 

Nafisi, S., 2436W 

Nag, A., 335, 2068T* 

Nagai, A., 1833W 

Nagai, J., 3051W 

Nagai, T., 1631T 

Nagamani, S., 165, 3209W 

Nagamani, S. S. C., 433F 

Naganawa, M., 914T 

Nagao, T., 2747T 

Nagappa, J., 2411F 

Nagaraja, R., 276, 2001W 

Nagaraju, K., 2452T 

Nagasaki, M., 396 

Nagashima, T., 2264F 

Nagaswamy, U., 648T 

Naggert, J., 2702T 

Nagy, A., 3463T 

Nagy, M., 3364F, 3402T 

Nagy, Z., 2767W 

Nah, H.-D., 2856F 

Nahab, F., 347, 2603F 

Nahum, O., 977W 

Naides, S. J., 2260T 

Naidich, T. P., 168 

Naidoo, D., 615T 

Naidu, S., 3065W 

Naim Bushra, M., 930T 

Naing, B. T., 1697T 

Nair, R. P., 154, 1952F 

Nair, S., 2731W 

Naito, Y., 3221W 

Naitza, S., 1516F, 2198F 

Naj, A., 2637W 

Naj, A. C., 342, 344*, 2498F, 

2583W, 2586W 

Najfeld, V., 3488T 

Najmabadi, H., 2301W 

Naka, I., 1327F* 

Nakabayashi, K., 3499T* 

Nakachi, Y., 2873T 

Nakada, T. A., 1632T 

Nakagama, H., 396 

Nakagawa, H., 396 

Nakagawa, M., 52 

Nakahira, K., 475F 

Nakahori, Y., 3337F 

Nakamori, M., 2824W 

Nakamura, H., 396, 1998W, 

1999T 

Nakamura, M., 663F 

Nakamura, R., 3221W 

Nakamura, T., 663F, 1317T, 

1549F, 2607W, 2616W, 

2823F, 3043W 

Nakamura, Y., 396, 627T, 

1277F, 1552F, 1631T, 

1643T, 2004W, 2051F, 

2133W, 2174F, 2506T 

Nakano, K., 396 

Nakano, M., 2129F* 

Nakano, N., 2559W 

Nakaoka, H., 2253W* 

Nakashima, H., 663F 

Nakatome, M., 1321F 

Nakayama, A., 663F 

Nakayama, J., 3230F 

Nakayama, K., 2009F 

Nakhla, M., 1108T 

Näkki, A., 2134T* 

Nalbandian, A., 757W, 

3213W, 3249W* 

Naley, M., 133 

Nalls, M., 2063F 

Nalls, M. A., 2148W, 2611T 

Naluai, A. T., 1970F 

Naluai-Cecchini, T., 940T 

Nam, M., 866T, 867W*, 

3112F 

Namavar, Y., 197 

Nampoothiri, S., 3240F 

Nance, T., 527F 

Nancy, A., 931W 

Nanda, V., 2216F 

Nanko, S., 2652W 

Napierala, D., 2854W 

Napoletano, S., 71 

Napolitano, F., 3631F 

Narayanan, D., 2224T 

Narayanan, V., 3215W 

Narimatsu, H., 1549F 

Naritomi, K., 2758W 

Narkis, G., 2931F 

Narod, S., 1061F 

Naruto, T., 2891T, 3051W 

Narzisi, G., 2587T 

Nascimento, D. R., 2655W 

Nascimento, L., 1899W* 

Nascimento, L. M., 1978T 

Nash, D., 3671F 

Nashi, E., 306 

Naslavsky, M. S., 1727W* 

Nasonkin, I., 827F 

Nass, R. D., 3113W 

Nassar, N., 231 

Nasser, M., 3157W*, 3241W 

Nassir, R., 2360F 

Nasuti, A., 2300F 

Nath, S., 1572T, 3253F 

Nath, S. K., 307, 2351F, 

2731W 

Nath, S. R., 764W* 

Nathanson, K. L., 213, 

1003T 

Nathanson, L., 341 

Nato, A. Q., 2216F, 3558W, 

3566W* 

Natoli, J., 1866F 

Nätynki, M., 1611T 

Naughton, B., 483F, 3386W, 

3617F 

Naughton, B. T., 179, 498W, 

1223F*, 1620T, 1838F 

Navarrete, J., 694T* 

Navarrete Meneses, M. P., 

872T, 1022F* 

Navarrete-Meneses, P., 

1131W 

Navarro, B., 3266W 

Navarro, L., 3706W 

Navarro, P., 1383T, 1481W 

Naviaux, R., 534W 

Navin, N., 1258T 

Navon, O., 3623F 

Navon, R., 3588W 

Nayak, G., 2663T*, 2724F 

Nayak, R., 1506T* 

Nayak, U., 1662T 

Naydenov, C., 2151W 

Nayernia, K., 2987T 

Nazarenko, I., 678T, 2926W 

Nazemi, A., 1083W 

NCI Breast and Prostate 

Cancer Cohort 


Ndumele, C. E., 272 

Neal, C. O. S., 1310W* 

Neal, D., 1011W 

Neal, D. E., 1148F 

Neale, B. M., 280, 290, 

1523W, 2618F* 

Neale, G. A., 2331W 

Neary, J., 2651F 

Neas, L., 1636T 

Nebel, A., 515F, 1943F, 

2103W, 2295W, 2303F 

Neben, C. L., 2857W* 

Nebert, D. W., 487F, 

2800W 

Nedelea, F. M., 2728W 

Neel, B. G., 135 

Neeradha, C., 911W 

Nees, S. N., 845F 

Neff, F., 2922F 

Neff, M. W., 2517W 

Neff, T., 1237T 

Negretto, C., 896T, 899W 

Negroni, E., 2840T 

Neidich, J. A., 1736W 

NEIGHBOR Consortium, 

2135F, 2263T 

NEIGHBOR Consortium 

Investigators, 386 

Neill, N. J., 884T 

Neison, M., 1491T 

Neiswanger, K., 1315F 

Neitz, J., 3212F 

Neitz, M., 3212F 

Neitzel, L., 819F 

Nekrutenko, A., 3547F 

Nelakuditi, V., 1683T, 1737W 

Nelen, M., 1749W, 3650W 

Nelen, M. R., 1734W 

Nelis, M., 2937F 

Nelissen, F., 2696T 

Nelson, A., 3340F 

Nelson, B., 12, 825F 

Nelson, C., 767W, 1595T, 

1698T, 3453T 

Nelson, C. P., 119, 1308T, 

2076W, 2175W

Nelson, H. H., 1229F 

Nelson, M., 294, 1686T, 

2087F 

Nelson, M. R., 476W, 641T, 

649T, 3282T, 3406T 

Nelson, R., 3671F 

Nelson, S., 1447F 

Nelson, S. F., 296, 315, 

361, 471F, 1685T, 2874F, 

3666W 

Nelson-Moseke, A. C., 

1087T* 

Nelson-Williams, C., 1241F, 

2779W 

Nemat-Gorgani, N., 3710W 

Nematollahi-Mahani, A., 

413F 

Nemesure, B., 1003T 

Neogi, A., 1719W* 

Neph, S., 255 

Nerella, S., 3442T, 3452T 

Neri, M., 1153T 

Nerkizian, N., 3700W 

Neshan, M., 2976T 

Nesheva, D. V., 923W 

Ness, A. R., 1583W 

Nessa, A., 2359T 

Nestadt, G., 2391W, 2573F, 

2576F 

Nesterova, M., 1151F 

Nestle, F., 583F 

Nestle, F. O., 2138F 

Nestrasil, I., 714T*, 785W, 

801W 

Nethander, M., 2080T 

Neto, J. L., 2736F 

Netterville, J. L., 136 

Netto, C. B. O., 696T 

Neuberger, J. M., 153 

Neuhaus, J., 1965W 

Neuhausen, S. L., 1213T 

Neuhoff, N., 1976F 

Neumann, L. C., 3500T* 

Neuwirth, C., 1618T 

Nevado, J. B., 1610T* 

Nevalainen, E. M., 2213F* 

Nevanlinna, H., 209, 997T, 

1006T, 1117T, 1171T, 

1265F 

Neveling, K., 58, 100, 

1734W, 1749W 

Neves, C. T., 1880F 

Nevruz, O., 1136F 

Newberg, J., 2979T 

Newburger, D., 397 

Newby, L. K., 1444F 

Newcomb, P., 144, 1206W 

Newcomb, P. A., 141, 

1067F, 1079F 

Newcomer, D., 3731F 

Newhouse, S., 2580W 

Newlin, A. C., 1225T 

Newman, A., 2165F 

Newman, A. B., 1920W, 

1921T, 2040W 

Newman, D. L., 1966T 

Newman, W. G., 2852T 

Newport, D. J., 2384F 

Newschaffer, C., 463F 

Newsome, J., 1009T, 2014T 


Newton, A., 3682W 

Newton, K., 2098T 

Newton Bishop, J. A., 211 

Newton-Cheh, C., 1585T, 

1677T 

Ney, D. M., 710T 

Nezarati, M., 124 

Ng, B. G., 1758W 

Ng, C., 136 

Ng, C. L., 2066F 

Ng, D., 358, 1690T, 1696T* 

Ng, D. P. C., 1757W 

Ng, E., 563F 

Ng, E. H. Y., 3000T 

Ng, K., 135, 1227W 

Ng, M., 178, 2280W, 2332T 

Ng, M. C., 2131T 

Ng, M. C. Y., 1648T, 1879T, 

2310W 

Ng, P., 735F, 1556W 

Ng, P. C., 1792W, 3353W 

Ng, S., 26 

Ng, W.-F., 2084F 

Ngeow, J., 1144T* 

Ngom, A., 3490T 

Ngu, M. S., 3267T 

Nguyen, C., 757W 

Nguyen, D., 379, 3730W 

Nguyen, D. V., 770W 

Nguyen, H. H., 396 

Nguyen, K.-D. H., 121* 

Nguyen, N. D., 2176T 

Nguyen, S. C., 2176T* 

Nguyen, T. M., 2539T 

Nguyen, T. V., 2176T 

Nguyen, V., 3007T 

Nguyen-Dumont, T., 1213T, 

3679F 

Nguyen-Nielsen, M., 1565W* 

NHLBI Exome Sequencing 

Project, 6, 12, 19, 170, 

1692T, 2336F, 2337W 


Project, Exome 

Sequencing Project 

Blood Counts Project 

Team, 1408F 


Project - Early Onset 

Myocardial Infarction, 120 

NHLBI GO Exome 

Sequencing Project, 

1437T 

NHLBI Personal Genomics 

Project Team and NHLBI 

Exome Sequencing 

Project, 301 

Nho, K., 2511W 

Ni, P., 3300T 

Ni, T., 586W 

NIAID Center for HIV/AIDS 

Vaccine Immunology 

(CHAVI), 2335T 

Niangaly, A., 2255F 

Nica, A., 44, 583F 

Nica, A. C., 556W* 

NICE Study Group, 3020T 

Nicholas, T., 494W, 1239W 

Nichol Edamura, K., 2696T 

Nicholl, J. K., 978T 


Nicholls, K., 745F*, 772W 

Nicholls, S. G., 149, 150, 

1827W* 

Nichols, A. H. G., 1084T* 

Nichols, W. C., 2136W 

Nicholson, G., 52, 2470T, 

2742F 

Nicholson, G. A., 2816T 

Nickerson, D., 93, 223 

Nickerson, D. A., 10, 12, 

170, 171, 244, 301, 601T, 

1408F, 1605T, 2443T, 

2740W 

Nickerson, M., 1242W, 

2833W* 

Nicolae, D. L., 368, 2196W, 

2197T, 2333F 

Nicolaides, K., 3508T 

Nicolaou, N., 2848W 

Nicolas, G., 345* 

Nicolato, R., 2404T 

Nicoletti, A., 2763F 

Nicolini, H., 2495F 

Nicolson, S. C. N., 2443T 

Nicosia, S., 1061F 

Nicouleau, M., 390 

NIDDK and International 

IBD Genetics Consortia, 

2319W 

NIDDK IBD Genetics 


Nidey, N., 1937F 

Nie, J., 1086W 

Nieberle, I., 3539F 

Niehaus, D., 644T 

Nielsen, F., 1238F 

Nielsen, J. E., 2765T 

Nielsen, P., 3528W 

Nielsen, R., 182, 281, 

1573F, 2311T, 2317T, 

2347T, 3289F, 3300T, 

3305W, 3311W, 3312T 

Nielsen, S. J., 1194W 

Nielsen, T. T., 2765T 

Nielson, C. M., 109 

Niemelä, M., 1253F 

Niemi, A.-K., 744T* 

Nieminen, K. M., 1125W* 

Nieminen, T. T., 1276T* 

Nieminen-von Wendt, T., 

2399F 

Nienhuis, J., 2430W 

Nieuwint, A., 98 

Nievergelt, C. M., 2375F 

Nieves-Colon, M. A., 3363T* 

Niewold, T. B., 1979F, 

2046W 

Nigrin, D. J., 1836F 

NIH Intramural Sequencing 

Center, 3306T 

Nii, T., 2647T 

Niikawa, N., 3056F 

Niinimaki, J., 1892F 

Niizeki, H., 2911W 

Nijman, I., 400 

Nijman, I. J., 217, 2886F 

Nika, M., 2135F 

Nikamo, P., 2276F* 

Nikiforov, T., 3698W 

Nikkel, S. M., 131* 

Nikkilä, J., 1099T 

Nikkola, E., 2256W 

Nikodinovic, J., 201, 2948T 

Nikolaev, S. I., 3263W* 

Nikolaus, S., 2368T 

Nikolova, D., 3477T 

Nikopensius, T., 3079W* 

Nikpay, M., 2236T* 

Nillesen, W., 215 

Nillesen, W. M., 125 

Niloufar, B., 2037W 

Nimgaonkar, V. L., 2382W, 

2589W, 2651F 

Nimmo, G., 722T 

Ning, X.-H., 3281W 

Nino, D., 2189F 

Nippert, I., 1877F* 

Niranjan, T., 2566T*, 2806W 

Nirmala Sadasivam, S., 

2988T 

Nisbet, J., 44, 583F, 3441T 

NISC Comparative 

Sequencing Program, 

1690T, 1983W, 2938W 



NHGRI, NIH Intramural 

Sequencing Center, 1261T 



NIH, 2470T 

Nishi, E., 3043W*, 3094F 

Nishida, A., 781W* 

Nishida, N., 2130W*, 

2349W, 3301F 

Nishikawa, T., 1795W, 2891T 

Nishimori, I., 2768T 

Nishimoto, H. K., 2732T 

Nishimura, C., 419F 

Nishimura, D. Y., 404 

Nishimura, F., 2370W, 

2652W* 

Nishimura, T., 2771T 

Nishina, S., 3093W 

Nishino, I., 755W, 2409W, 

2923W 

Nishino, S., 2667F 

Nishioka, K., 3134F 

Nishioka, M., 2435F* 

Nishioka, T., 2619W 

Nishita, D., 642T 

Nishiyama, K., 3136F 

Nishiyama, S., 475F 

Nishiyama, T., 1574W, 

2440T* 

Nishizawa, D., 2507F* 

Nishizawa, H., 475F 

Nitschke, P., 104, 202, 

324, 325, 329, 390, 403, 

2808F 

Nitschke, Y., 2759T 

Nitzberg, M., 493F 

Niu, B., 457F, 1974W, 2623T 

Niu, D., 3467T 

Niu, G., 557F 

Niu, H., 242 

Niu, Q., 1003T 

Niu, T., 2172W* 

Niu, Z., 314, 1735W, 

1742W, 1761W*, 3493T 



Niyazov, D., 3036F* 

Nizou, A., 2694F 

Nizzari, M., 3680W 

Njølstad, I., 1608T 

No, D., 682T 

Noack, B., 2058W 

Nobel, A., 368 

Noble, J., 3454T 

Nobuta, K., 1249T 

Noethen, M. M., 420W, 

1512T 

Noguchi, K., 2559W 

Noguchi, S., 755W 

Nohutcu, R., 2058W 

Nolan, J. J., 1624T 

Nolan, J. M., 1897T 

Nolent, F., 54 

Nolin, S., 2449T 

Nolta, J. A., 1625T 

Nolte, D., 2416T 

Nomura, M., 2264F*, 2647T 

Nomura, N., 2748F 

Nomura, Y., 3230F 

Nonaka, I., 755W 

Noonan, D., 1589T 

Noonan, J. P., Session 5 

Noor, A., 2525F, 3106F 

Noori Daloii, M. R., 2952F 

Noponen, N., 1892F 

Noppola-Hemmi, J., 1976F 

Norberg, S., 3695F, 3710W 

Nord, A., 263 

Nord, A. S., 4, 254, 407* 

Nord, K. H., 1024T 

Nordborg, M., 2320T 

Nordenskjöld, A., 3245W 

Nordenskjöld, E., 3245W 

Nordenskjöld, M., 1035W, 

1126T, 1939T 

Nordgren, A., 1035W, 

1126T, 3245W 

Nordlund, J., 3427T 

Nordmark, G., 2084F 

Nordstrom, L., 1186T 

Noreau, A., 2591F* 

Norman, P. J., 3390T, 3710W 

Normanno, N., 1060T* 

Norrgrann, P., 1563T 

Norris, J., 1330F 

Norris, J. M., 1888T 

Norsworthy, P., 1618T 

North, H., 2411F 

North, K., 1608T, 3299W 

North, K. E., 170, 1437T, 

1467T, 1599T, 1913F, 

1925F, 1954T, 2073W, 

2090F, 2123F, 2131T*, 

2145W, 2147F, 2337W 

North, K. N., 295 

North American Brain 

Expression Consortium 

and UK Brain Expression 


Northrop, L., 957W 

Northrop, L. E., 937W* 

Norton, M. E., 2978T, 3020T 

Norton, N., 1681T 

Norwitz, E., 3030T 

Noskova, L., 752T 

Nothen, M. M., 2102F 


Nöthen, M. M., 106, 1005W, 

1976F, 2088W, 2557T 

Nothnagel, M., 580W, 

2058W, 2103W, 3364F*, 

3402T 

Notini, A. J., 1273T 

Noto, C. S., 2533T 

Noto, K., 3321T, 3365W* 

Nouira, R., 2744T 

Nouvian, R., 2685F 

Novak, B., 3459T, 3669F, 

3709F 

Novak, S., 2114F 

Novak, S. P., 2170T 

Novelli, A., 881W, 943W, 

2777T, 3050F 

Novelli, G., 2160W 

Novembre, J., 180, 185, 

476W, 1491T, 3282T, 

3302W, 3406T, 3626W 

Noveski, P., 2983T 

Novikov, I., 1303F 

Novo-Filho, G., 896T, 899W 

Novokmet, N., 1660T 

Novosad, P., 2865F 

Nowaczyk, M., 124 

Nowaczyk, M. J. M., 131, 

300*, 701F 

Nowak, J., 1057T, 1184F* 

Nowak, S., 423F 

Nowell, K., 759W 

Nowicka, K., 1057T, 1184F 

Nozaki, Y., 3118F 

nPOD-Virus Group, 3600W 

Nsubuga, R., 3412T 

Ntalla, I., 2097W, 3396T 

Ntzani, E. E., 109 

Nucci, A., 2653T 

Nuccitelli, A., 71 

Nuernberg, G., 105, 2909T 

Nuernberg, P., 105, 2909T 

Nukina, N., 2768T 

Numabe, H., 1816F* 

Numata, Y., 234 

Nunes, D. H., 1946F 

Nunes, H. F., 2291F* 

Nunes, K., 3292F* 

Nunes, M. E., Session 79, 

3158F* 

Nunes, V., 2703F 

Nuñez, A. F., 926T 

Nunez, C., 1330F, 3364F 

Núñez, C., 3402T 

Nuñez, G., 1320T 

Nuñez-Zenteno, A., 650T 

Nuotio, M.-L., 2132F* 

Nurmi, E. L., 639T* 

Nurminen, R., 995F*, 997T 

Nürnberg, G., 1, 2930T, 

2944W, 3214F 

Nürnberg, P., 1, 2759T, 

2812W, 2861T, 2869W, 

2930T, 2944W, 3214F 

Nurse, J. C., 3725F 

Nusbaum, C., 322 

Nusbaum, S., 915W 

Nuytemans, K., 347*, 2603F 

Nwebube, N., 3518T 

Nyambo, T., 283, 3303T, 

3338W 

Nyberg, F., 609T, 1970F 

Nyegaard, M., 2699T* 

Nygaard, M., 2295W* 

Nygaard Ravn, M., 3641F, 

3662W 

Nyholt, D. R., 106, 2056T, 

2133W*, 2175W 

Nyström, M., 982T 

O 

Oakhill, K., 1257W 

Obayashi, M., 2371T 

Ober, C., 278, 536W, 

2031W, 2982T, 3398T 

Oberfield, S. E., 812F 

Oberg, A. L., 1426F 

Oberman, B., 1303F 

Oberoi, S., 3242F 

Obisesan, T. O., 317 

O’Bleness, M., 433F, 465F* 

O’Bra, S., 3238F 

Obraztsova, O., 2005T 

O’Brien, D. P., 2805F, 2847F 

O’Brien, J. E., 2463W* 

O’Bryhim, B. E., 1989W* 

Obuchi, M., 2656T 

Occhi, G., 2708T* 

Ochoa, J., 970T 

Ochoa, S., 3063W* 

Ochs-Balcom, H., 1086W 

Ochs-Balcom, H. M., 2360F 

Ockeloen, C. W., 100, 

3159W* 

O’Connell, J., 1484W*, 

2210F 

O’Connell, J. R., Session 

27, 602T 

O’Connell, M. A., 577F 

O’Connor, I., 2620T 

O’Connor, M., 1740W 

Oda, T., 232 

O’Day, D., 2789T* 

O’Day, D. R., 10 

Oddoux, C., 3345T, 3395W, 

3397W* 

Odeberg, J., 1651T 

Odefrey, F., 3679F 

Odefrey, F. A., 1213T 

Odent, S., 2893W, 3170F* 

Odenthal-Hesse, L., 

3257W* 

Odom, D., Session 5 

O’Donnell, C., 584W, 586W, 

1408F 

O’Donnell, C. J., 170, 174, 

349, 1445W, 1585T, 

1599T*, 1677T 

O’Donovan, M., 1325W 

O’Donovan, M. C., 2576F 

O’Dushlaine, C., 290, 333, 

2487W* 

O’Dushlaine, C., 2618F 

O’Dushlaine, C. T., 2576F 

Oehl-Jaschkowitz, B., 

3111W 

Oei, L., 109* 

Oepkes, D., 3020T 

Oertel, W., 2568W 

Oestergaard, E., 702T* 

Oeth, P., 2973T, 3016T*, 

3023T 

Oetjens, M. T., 647T* 

O’Fallon, B. D., 225* 

Offenhäuser, N., 1 

Offit, K., 17, 27, 207, 208, 

998F, 999W, 1159T, 

1841W 

Ofverholm, I., 1126T* 

Ogaki, K., 2559W, 3221W* 

Ogata, H., 663F, 3499T 

Oghalai, J. S., 840F 

Ogundiran, T. O., 1003T 

Ogunniyi, A., 1959W 

Oguzkan Balci, S., 1402F*, 

1935W, 1938W 

Oh, B., 1622T* 

Oh, E., 13 

Oh, E. C., 2458T 

Oh, F., 1691T 

Oh, G., 628T 

Oh, H., 2665W* 

Oh, J., 1230W 

Oh, K., 3223W 

Oh, S., 690T, 3567F* 

O’Hanlon, T. P., 434W 

O’Hare, J., 893W 

Ohashi, J., 1327F, 1994F, 

3301F 

Ohh, M., 1046F 

Ohler, U., 586W 

Ohlsson, C., 2080T, 2116T 

Ohmen, J., 2184W* 

Ohmen, J. D., 2104T 

Ohmura, K., 2004W 

Ohno, K., 2472W* 

Ohno, M., 548W*, 558W, 

598W 

Ohta, T., 3056F 

Ohtake, A., 2873T 

O’Huallachain, M., 425F* 

Oien, N. C., 3 

Oikkonen, J., 2181W 

Oikonomopoulos, S., 509F 

Oiso, N., 3146F* 

Oitmaa, E., 1140W 

Ojeda, F., 1669T 

Ojha, B. K., 1177T 

Oji, V., 2869W 

Okabe, T., 800W* 

Okada, J., 724T 

Okada, K., 1815W, 2440T, 

2550W 

Okada, T., 799W 

Okada, Y., 111, 1490W*, 

2004W 

Okada-Hatakeyama, M., 

2264F 

Okamoto, N., 1290T, 2697F, 

2758W, 3102F* 

Okamoto, Y., 777W*, 

2418W, 2607W, 2616W 

Okamura-Ikeda, K., 8 

Okano, H., 2911W 

Okano, T., 2833W 

Okazaki, Y., 2652W, 2873T, 

2923W 

Okochi, S., 1130F 

Okou, D. T., 2312F*

Oksenberg, J., 2113T, 3330T 

Oksenberg, J. R., 270, 

1924T, 2299T 

Okuyama, T., 726T, 2911W 

Oláh, E., 3070F 

Olatubosun, A., 496W 

O’Laughlin, M., 1210T 

Oldgren, J., 617T, 619T 

O’Leary, J., 2974T 

Oleksyk, T., 3254W 

Oleksyk, T. K., 3315T, 

3360T, 3380W 

Olender, T., 53, 2875W 

Oler, J. A., 2413T 

Olin, A. C., 1970F 

Oliphant, A., 2978T, 3020T 

Oliva, R., 2624F 

Oliveira, B. A., 2417F*, 

2502W 

Oliveira, E. P. L., 514W 

Oliveira, F. A., 2233T 

Oliveira, F. M., 1045T* 

Oliveira, G., 1239W, 2261F, 

2417F, 2502W 

Oliveira, J. P., 3122F 

Oliveira, K. G., 2654F 

Oliveira, L. F. S., 2434T 

Oliveira, M., 896T, 899W 

Oliveira, M. B., 2286W*, 

2291F, 2718F 

Oliveira, R. J., 1880F 

Oliveira, S., 3261T* 

Oliveira, S. A., 1977W, 

2085W, 2150F 

Oliveira, S. F., 961W, 3324T, 

3375T 

Oliver, J., 3703F 

Oliver, J. S., 3529F, 3656W* 

Oliver, K. L., 2898F 

Oliver, P. L., 2649W* 

Oliver, T., 940T 

Olivier, M., 441F, 587F, 

1269W, 1667T 

Oljira, T., 3322F 

Ollert, M., 2922F 

Ollila, H. M., 2462F* 

Olm-Shipman, A. J., 2265W, 

2670F 

Olopade, O. I., 1003T 

Olsen, A. O., 3510T 

Olsen, N., 1901F, 2284T 

Olson, J. E., 3564W 

Olson, L., 247, 1447F, 

2263T 

Olson, L. M., 2154W, 2240F 

Olson, T. M., 1695T 

Olsson, L., 1023W* 

Olsson, T., 1455T, 2561F 

Olstad, O. K., 576W 

Omar, S., 3303T, 3338W 

Omarjee, A., 126 

Omay, Z., 1201T 

Omdal, R., 2084F 

Omi, N., 2129F 

Omran, H., 2850F, 2955F 

Önal-Akan, A., 2869W 

Onat, O. E., 2924T* 

Onay, H., 2719W, 3206F*, 

3222F 

Öncel Torun, Z., 3195W* 


Oncescu, A., 3009T, 3067W 

Onda, H., 2675T 

O’Neill, C., 763W, 784W 

O’Neill, F. A., 2500T, 2594F, 

2599T 

Onengut-Gumuscu, S., 

1299T 

Oner, O., 8 

Ong, F. S., 130* 

Ong, J., 3669F 

Ong, K., 2165F 

Ong, K. K., 2282F 

Ong, R. T. H., 3284W, 3339T 

Ongaco, C., 2139W 

Ongen, H., 401*, 556W, 

561F 

Onkamo, P., 2181W 

Onland-Moret, N. C., 609T 

Onouchi, Y., 1631T*, 1643T 

Onoufriadis, A., 809F* 

Ontiveros, A., 2495F 

Ooi, C., 3574W 

Oonk, A. M. M., 58 

Oostdijk, W., 2701W 

Oosterveld, M. J. S., 2848W 

Oosterwijk, J. C., 27 

Oostra, B., 2107T 

Oostra, B. A., 2193W 

Oostrik, J., 58 

Opdal, M. S., 643T 

Openshaw, P. J., 1507F 

Ophoff, R. A., 431F, 2526W, 

2553W, 2661W, 3474T* 

Opocher, G., 2708T 

Oppelt, P., 3153W 

Oppeneer, T., 763W 

Oppenheimer, S., 3264T, 

3267T 

Oppo, M., 113, 157, 177 

OPTIMED Consortium, 

608T 

O’Rahilly, S., 33, 43, 45, 583F 

Orange, J. S., 2722W 

Ordonez, J., 2495F 

Ordovas, J. M., 2024F 

Ordulu, Z., 68, 70* 

O’Reilly, D. D., 454W 

O’Reilly, P., 1432F, 2162F 

O’Reilly, P. F., 2164T 

O’Reilly, R., 2585F 

Orellana, C., 103 

Organ, C., 2561F 

Ori, A. P. S., 2661W 

O’Rielly, D., 448W* 

Orioli, A., 415F 

Orlando, S., 255 

Orloff, M., 1144T 

Ormond, K., Session 25 

Ormond, K. E., 1844F 

Ormshaw, E., 3167W 

Ornitz, D. M., 828F 

Orntoft, T. F., 401 

O’Roak, B. J., 10*, 93, 278, 

2789T, 2897T 

Oron-Karni, V., 2919F 

Orosco, L., 956T 

O’Rourke, M., 853F 

Orr, H. T., 2625W, 2769F 

Orr, N., 1150T 

Orrù, V., 1516F 


Orr-Urtreger, A., 63, 704T 

Orta Correia, F., 1968W 

Orta Gomes, F., 2017T 

Ortega, G., 3226F 

Ortega, M., 2049W 

Ortega, O., 2453F 

Ortega, V., 868T 

Ortega Del Vecchyo, D., 

3302W*, 3621F 

Ortega-Gutierrez, F. A., 650T 

Ortel, T. L., 2330F 

Ortiz, R., 1141T 

Ortiz, V., 526W 

Ortiz Brüchle, N., 3111W 

Ortiz-López, R., 1030T 

Ortiz-Orozco, R., 650T 

Ortiz-Tello, P., 2033F*, 3390T 

Ortmann, W., 2091W 

Ortoz, R., 1049F 

Orwoll, E., 109 

Orwoll, E. S., 2375F 

Ory, D., 684T 

Osaka, H., 234, 2836W, 

3136F 

Osann, K., 1791W 

Osann, K. E., 3213W 

Osawa, M., 1321F, 2963T 

Osborne, K., 399 

Osborne, L. R., 2665W, 

3482T 

Oshiro, M. M., 3712W 

Oshlack, A., 3484T 

Osimani, S., 124 

Osimo, E., 2564F 

Osoegawa, K., 1589T* 

Osorio, A., 1213T 

Ospina, L. H., 2790F 

Ossowski, S., 2303F, 2326T, 

2593T, 2940F, 3661F* 

Ossowsky, V., 2018F 

Ostell, J., 1762W, 3625F 

Oster, B., 401 

Østergaard, E., 363 

Ostergren, J. E., 1849W 

Ostrander, E. A., 28, 1001F, 

1214F, 2219F* 

Ostrer, H., 17, 409, 1185W, 

1309F, 2078F, 3345T, 

3395W*, 3397W 

Ostrosky, P., 1049F 

Ostrovnaya, I., 999W 

Ostrovsky, J., 534W, 2943F 

Oswald, G., 80 

Oswald, M., 1133F 

Ota, S., 475F 

Ota, V. K., 2533T*, 2534F 

Otieno, F., 2722W, 2856F 

Otieno, F. G., 2872W 

Otsuka, A., 2911W 

Ott, J., 1892F 

Otterud, B., 2397W 

Ottman, R., 203 

Otto, E. A., 406, 2850F* 

Otto, P. A., 874T 

Ottoboni, L., 2250W 

Ottolini, B., 449F* 

Ou, J., 553F, 2479T 

Ouahla, M., 2674W 

Oualkacha, K., 1411F* 

Ouazzani, O., 2306F 

Ouchi, K., 1631T 

Oud, M., 324 

Oud, M. M., 216 

Oufadem, M., 3172F 

Ouguerram, K., 1607T 

Ouled Amar Bencheikh, B., 

2306F*, 2342F 

Õunap, K., 3151W 

Ounissi-Benkalha1, H., 5 

Ousager, L. B., 2760F 

Outeiro, T. F., 2641T 

Ouwehand, W., 110 

Ouwehand, W. H., 

Session 22, 383, 

1604T, 3453T 

Ouwenga, R., 3398T 

Ouzhuluobu, O., 3317W 

Ovarian Cancer Association 


Ovcharenko, I., 407, 545F 

Overgaard, M. T., 2699T 

Ovetsky, M., 1762W 

Owen, M., 1325W 

Owen, M. J., 2405F, 2576F 

Owen, N., 730T 

Owen, R., 876T, 3522T 

Owens, C., 3142F 

Owings, A., 3373F 

Owings, A. C., 3329W, 

3377W 

Oyama, F., 548W, 558W*, 

559F, 598W, 599F 

Oyarzo, A., 2672T 

Oystreck, D. T., 2928F 

Oza, A., 1824F 

Ozaki, A., 2656T 

Ozaki, K., 1631T, 1643T* 

Ozaksit, G., 594W 

Ozbek, U., 22*, 2396F, 

2412W* 

Ozcelik, H., 1500T 

Ozcelik, T., 287, 2924T 

Ozdemir, O., 2412W 

Ozdemir, T., 3222F* 

Ozdemir, T. R., 1106F 

Ozeki, T., 627T* 

Ozel, A. B., 2135F* 

Ozelius, L., 17 

Ozelius, L. J., 2801T 

Ozen, M., 2908W 

Ozenberger, B. A., 1845W* 

Ozer, O., 3424T*, 3426T 

Ozhan, N., 1025F 

Ozilou, C., 915W 

Ozkan, E., 3201W 

Ozkilic, M., 3475T* 

Ozkinay, C., 1106F 

Ozkinay, F., 965W, 1106F, 

2719W*, 3206F, 3222F 

Özkinay, F., 3214F 

Oz-Levi, D., 53*, 2875W 

Ozmore, J., 3176F 

P 

Pääbo, S., 3274F, 3372T 

Paananen, J., 46 

Paardekooper Overman, 

J., 215 



Paavola-Sakki, P., 2023T 

Pabón-Peña, C., 3669F 

Pabst, S., 2103W 

Pacanaro, A. N., 3045W 

Pacheco, J., 1312F 

Pacheco, J. A., 618T 

Pacheco Torres, A., 996W* 

Paciolla, M., 505F 

Pack, A., 2592W 

Padbury, J., 76, 3024T* 

Padgett, R. A., Session 24 

Padilla, C. D., 1805W*, 

1877F 

Padilla, S., 1805W 

Padioleau, I., 561F 

Padmanaban, A., 3705F 

Padmanabhan, S., 1626T 

Padoan, M., 1153T 

Padula, A., 2629T 

Padyukov, L., 1934F, 1981T, 

2103W, 2160W, 2276F 

Paelinck, B., 1617T 

Paetau, A., 1253F 

Paez, P., 3115W* 

Paff, T., 809F 

Pagan, C., 259 

Pagani, L., 3322F*, 3377W 

Page, D., 2297F 

Page, E., 1109F 

Page, G., 2114F 

Page, G. P., 1392T*, 2170T 

Pagliarani, S., 1751W 

Pagnamenta, A. T., 2939T 

Pagon, R. A., 1753W 

Pai, A., 2 

Pai, A. A., 3251W 

Paila, U. D., 3632W* 

Painter, J. N., 2056T 

Painter, J. P., 2133W 

Paisan-Ruiz, C., 2866W 

Paithankar, S., 3433T 

Paiva, C., 2288F 

Pajukanta, P., 2256W 

Pak, H., 1590T 

Pakalapati, G., 434W 

Pakstis, A. J., 3313F 

Pal, A., 802W 

Pal, D. K., 1531F, 2580W 

Pal, T., 1061F* 

Pala, M., 547F*, 2001W 

Palacios, B., 526W 

Palacios, M. G., 3084F* 

Palamara, G., 2780T 

Palamara, P., 3346F, 3366T* 

Palamara, P. F., 17, 3345T 

Palejev, D., 334 

Palha, T., 3364F, 3402T 

Palin, K., 3396T 

Pall, H., 348 

Pallas, M. C., 3725F* 

Paller, A. S., 2915T 

Pallesi-Pocachard, E., 

889W*, 2674W 

Pallone, N. L., 742T* 

Palma, M. G., 926T 

Palmas, W., 1661T 

Palmeiro, A., 1778W 

Palmer, C., 1082F, 2131T 

Palmer, C. D., 3525T 

Palmer, C. N. A., 115, 609T 


Palmer, D., 735F 

Palmer, L., 1153T 

Palmer, L. J., 2167T 

Palmer, N., 269 

Palmer, N. D., 1661T, 

1879T*, 1888T, 2275T, 

2310W 

Palmer, R., 126, 1773W 

Palmer, S. E., 330 

Palmer, S. J., 410*, 2662W, 

2796F 

Palmfeldt, J., 657F 

Palomaki, G. E., 3016T 

Palomares, M., 1658T, 

2065T 

Palotie, A., 252, 656T, 

897W, 1325W, 1709T, 

2059T, 2134T, 2344T, 

2348F, 2350T, 2399F, 

2898F 

Palou, J., 1053W 

Pals, G., 809F 

Palser, A. L., 2163W 

Paltiel, O., 1159T 

Paltoo, D., 2247W 

Pan, H., 1566T, 1772W 

Pan, J., 2838F 

Pan, S., 1601T 

Pan, W. H., 3430T 

Pan, X., 443F, 3394T 

Panchal, A., 1256F 

Panckeri, K., 853F 

Pandey, A., 3316F 

Pandey, M. K., 749F* 

Pandey, R., 1992W, 1997F, 

2252F* 

Pandite, L. N., 651T 

Pandor, A., 762W* 

Panettieri Jr., R. A., 638T 

Pang, A., 3506T* 

Pang, C. P., 1972T 

Pang, H., 531F 

Pang, Z., 2433W 

Pangalos, C., 2902W* 

Pan-Hammarström, Q., 

2091W 

Panhuis, T. M., 2012F 

Panicker, V., 1216T 

Panico, S., 1712T 

Panigrahi, A., 3316F 

Panigrahi, G., 2635T* 

Panigrahi, I., 3207W* 

Pankow, J. S., 1925F, 

2337W 

Pannosian, S., 2872W 

Pannuti, A., 1116W 

Panossian, S., 1997F, 

2252F, 2785W, 2892F, 

2904F 

Panoutsopoulou, K., 2044T, 

2097W, 2292W*, 3396T 

Pantel, K., 1115F 

Panzer, J. A., 330 

Pao, W., 136, 3620W 

Papadogiannakis, N., 

3245W 

Papageorgiou, E. A., 

3017T 

Papanicolaou, G., 350, 

2063F, 2210F 

Papanicolaou, G. J., 2131T, 

2247W, 3299W 

Papasian, C. J., 2053T 

Papenhausen, P., 949W 

Papillon-Cavanagh, S., 

2790F 

Papp, A. C., 609T 

Pappas, J. G., 3113W* 

Pappatà, S., 1985F 

Paprotka, T., 3701F 

Paquette, A. M., 3314W 

Paquette, J., 3618W* 

Paquis, V., 2703F 

Paraki, I., 218 

Parboosingh, J., 1052F, 

3173W 

Parboosingh, J. S., 2800W, 

3095W, 3127W, 3141W, 

3665F 

Parc, Y., 1170W 

Pardi, E., 2708T 

Pardo, L., 98 

Pare, G., 617T* 

Paré, P. D., 1465F 

Paredes, R., 1141T 

Paredes-Aguilera, R., 

1131W 

Parent, P., 1728W 

Parets, S. E., 2384F* 

Pareyson, D., 2781F 

Parfenov, M. G., 1677T 

Parfrey, P., 1066T, 1084T 

Parham, P., Session 80, 

3390T, 3710W 

Pariente, J., 345 

Parikh, A., 3097W 

Parikh, H., 1088F, 1199F* 

Parikh, S., 330 

Parikshak, N., 2444F 

Parimi, N., 2375F 

Parisi, V., 881W, 943W*, 

2777T 

Parisot, P., 77 

Park, A., 1590T, 2042F 

Park, B. L., 1975T 

Park, C., 1931F 

Park, C. S., 1975T 

Park, D. J., 1213T, 3679F* 

Park, H., 1155W 

Park, H. C., 3223W* 

Park, I., 1248W, 3462T 

Park, J., 947W, 1190F, 

1306F, 1450F*, 1657T, 

2715F, 3444T 

Park, J. E., 1465F 

Park, J.-H., 1007F* 

Park, K. H., 1305T 

Park, K.-H., 385 

Park, L., 2499W 

Park, M., 2518T 

Park, N., 2260T, 2547W 

Park, S., 126, 900T, 2518T, 

3008T, 3103W, 3461T, 

3473T 

Park, S. H., 3423T 

Park, S. J., 863W 

Park, S.-Y., 1622T 

Park, T., 1385W 

Park, W., 933W, 2723T*, 

3204F, 3223W 

Park, Y. S., 344, 2508W* 

Parker, D., 386 

Parker, H. G., 2219F 

Parker, M. M., 1425T*, 

1512T, 3616W 

Parker, T., 3210F 

Parker, V. E. R., 33 

Parkes, M., 2314T 

Parkhurst, E., 1866F 

Parkinson, H., 2108F 

Parkinson, K., 2703F 

Parkinson, N., 3142F 

Parkinson’s Disease 

Genetics Study Group, 

2638T 

Parks, J. C., 2968T 

Park-Simon, T. W., 1117T 

Parla, J., 2180F, 2305T, 

2587T 

Parlamee, N., 17 

Parmalee, N., 1898F, 

2547W* 

Parman, Y., 201, 2948T 

Parmar, A. S., 2023T* 

Parnaik, R., 361 

Parnell, L., 2024F* 

Parnham, A., 2916F 

Parodi, C., 1589T 

Parra, E., 49 

Parra, M., 1736W* 

Parracciani, D., 2128T 

Parrado, A. R., 2520W* 

Parrini, E., 889W 

Parsons, J., 530W 

Parsons, M. J., 818F 

Parsons, M. T., 1067F 

Parsons, R., 1255T 

Partanen, J., 2023T 

Partlow, J. N., 8 

Parts, L., 44, 583F, 1440T 

Partyka, G., 1867F 

Parvari, R., 1588T, 2738T* 

Parveen, F., 2992T* 

Pasalar, P., 1083W 

Pasaniuc, B., 89*, 284, 350, 

1331W, 1577W 

Pasca, S., 2479T 

Pasche, B., 1292W 

Paschon, D. E., 803W 

Pasco, Y., 270, 2603F 

Pasco, Y. M., 2572T 

Pascoal, V. D. B., 2655W 

Pasko, D., 2116T 

Paskulin, G., 2434T 

Pasmanik-Chor, M., 105 

Pasquale, L. R., 51, 1887W, 

2135F, 2154W*, 2240F, 

2263T 

Pasquale, R., 1060T 

Pasquali, A., 2548T 

Pasquali, M., 686T 

Pasquier, L., 3157W 

Passan, S., 1342F* 

Passini, M., 793W 

Passos-Bueno, M. R., 439F, 

813F, 814F, 852F, 2414F, 

2654F, 2673F, 2687T, 

2746W, 3070F, 3152F 

Passtoors, W. M., 1436W 

Pasternack, D., 1279T

Pasternack, S., 1005W 

Pastinen, T., 256, 394, 

569F, 649T, 705F, 1207T, 

1215W, 3439T, 3466T, 

3514T 

Pastore, N., 735F* 

Pastores, G. M., 768W, 

769W, 772W, 773W 

Pastorino, R., 2039F 

Pastura, P., 2136W 

Pasutharnchat, N., 2749W 

Pasutto, F., 2160W 

Patel, A., 61, 229, 430W, 

432W, 893W, 898T*, 

952T, 2403W 

Patel, C., 2230T 

Patel, C. J., 1462F* 

Patel, D., 1108T 

Patel, H., 3400T 

Patel, K., 503F 

Patel, M., 750T 

Patel, P., 2778F* 

Patel, P. J., 1472W 

Patel, S. R., 646T 

Patel, V. C., 2312F 

Patel, Y., 3471T 

Paternoster, L., 1528F, 

2102F 

Paterson, A., 2376W, 

2499W 

Paterson, A. D., 2109W 

Pathak, J., 1351F 

Patil, S., 1841W 

Patin, E., 3368W 

Patino, A., 951W 

Patiño, A., 3074F 

Patney, H. L., 1649T 

Pato, C., 2564F 

Pato, M., 2564F 

Paton, W., 222 

Patrinos, G. P., 3610W 

Patry, L., 2692W, 2790F 

Patsalis, P., 3017T* 

Patsopoulos, N. A., 624T 

Patterson, A., 2281T 

Patterson, B., 1847W 

Patterson, D. G., 2504F 

Patterson, M. C., 684T 

Patterson, N., 89, 178, 350, 

1331W, 1360F, 2210F, 

3372T, 3407W 

Patti, E., 2095T 

Pattnaik, B., 2830W 

Patto, J. V., 1977W 

Pauciulo, M. W., 2136W* 

Paul, D. S., 110, 383 

Paul, S. M., 1965W 

Paul-Gilloteaux, P., 842F 

Pauls, D., 1480F 

Paulsson, K., 1023W, 1024T 

Paulus, W., 2568W 

Paunio, T., 252, 2462F 

Pauws, E., 2752W, 2859F 

Pavan, W. J., 258 

Pavanello, R. C. M., 1727W 

Pavlidis, P., 447F, 491F, 

517F, 2482T, 3568W* 

Pavlovic, A., 1601T 

Pawel, B., 924T 

Pawitan, Y., 2074T 


Pawlikowska, L., 589F 

Paxinos, E., 3682W, 3724W 

Paxinos, E. E., 36 

Payet, M., 2729T 

Payette, Y., 2266T, 3341W 

Payne, F., 33, 45* 

Payne, T. J., 2388W, 2390F, 

2574W 

Paynter, N. P., 51 

Pazos, A., 3388F 

Pazourkova, E., 3437T 

Pearce, K. E., 1145F 

Pearce, M. S., 3419T 

Pearlman, A., 409, 1185W*, 

3345T 

Pearson, C., 2635T, 3026T 

Pearson, C. E., 2696T, 

2824W 

Pearson, K., 3238F 

Pearson, L., 2083T 

Pearson, L. N., 2223W 

Pearson, N., 1558F, 1561F 

Pearson, N. M., 2871F 

Pearson, R. D., 172, 1519F 

Peckins, S., 3264T 

Peco-Antic, A., 216 

Peden, J., 1238F 

Pedersen, A. G., 2241W 

Pedersen, E. B., 2329T 

Pedersen, I. S., 2862F 

Pedersen, J. K., 1323T 

Pedersen, L., 1565W 

Pedersen, N. L., 434W, 

2105F, 2175W 

Pedersen, O., 1624T, 2116T, 

2311T, 2317T, 2347T 

Pediatric Imaging 

Neurocognition Genetics 

Study, 1973F 

Pedram, M., 2714T 

Pedrazzoli, J., Jr., 1187F 

Pedroso, J. L., 2642F 

Peebles, D., 3508T 

Pe’er, I., Session 75, 17*, 

193, 264, 353, 1231T, 

1320T, 3345T, 3346F, 

3366T 

Peete, J., 493F 

Peeters, E. A. J., 214 

Peeters, H., 925W 

Peeters, K., 201, 2948T 

Pegoraro, E., 1732W, 2799F 

Pehlivan, D., 337, 360, 

777W, 2881W*, 2908W, 

2955F 

Pehlivan, S., 1402F, 1935W, 

1938W 

Pehlivan, Y., 2881W 

Pei, Y. F., 2053T, 3534W 

Pei, Y.-F., 2172W 

Peissig, P., 618T, 1312F, 

3622W 

Peitz, M., 236 

Pelak, K., 53, 2335T 

Peleg, L., 2691F* 

Pellegata, N., 2708T 

Pellegrini, M., 2479T 

Pellegrino, C., 2674W 

Pellegrino, R., 2492F, 

2592W* 


Peller, L., 674T 

Peller, L. C., 1696T 

Pellerin, P., 2002T 

Pellestor, F., 857W*, 936T 

Pellico, M. T., 775W 

Pellitteri-Hahn, M., 587F 

Peloso, G., 279 

Peloso, G. M., 117, 170 

Pelte, M. F., 67 

Peltekova, V., 1093T* 

Peltoketo, H., 1099T 

Peltomäki, P., 1026W, 

1276T 

Peltonen, J., 1139F 

Peltonen, S., 1139F 

Pelttari, L. M., 997T* 

Peluso, I., 2950W 

Peluso, P., 477F 

Pemberton, T., 2778F 

Pemberton, T. J., 3285T 

Pemov, A., 1261T* 

Peña, J. A., 3375T 

Pena, S. D. J., 3110F 

Peñaherrera, M. S., 3429T 

Penalva, L., 585F 

Penchaszadeh, V., 1877F 

Pendergrass, S. A., 226*, 

625T, 1316W, 2258F, 

3542W, 3624W 

Peng, B., 1543F*, 1554T 

Peng, C., 3596W 

Peng, G., 3589F 

Peng, J., 763W 

Peng, Q., 1263W* 

Peng, S., 3596W 

Peng, W., 586W, 3285T 

Peng, X., 3698W* 

Peng, X. H., 3081W 

Peng, Y., 3317W 

Peng, Z., 1369F 

Penland, C. M., 1731W 

Penn, J., 688T 

Pennacchio, L. A., 4, 254, 

407 

Pennell, C., 2097W, 2164T 

Penninger, J., 110 

Pennings, R. J. E., 58 

Pennington, J., 3530W 

Pennington, J. W., 3590W 

Pennison, M. J., 1292W* 

Penny, D. J., 1646T 

Pensato, V., 2775F 

Penzes, P., 263 

Peoples, A., 480W 

Pepalyte · , I., 653T, 920T 

Peppard, P. E., 2543F 

Pepperkok, R., 1630T 

Peralta, J., 1280W, 2589W 

Peralta, J. M., 1923W, 

2308T, 2309F, 2339F 

Perche, O., 3246F 

Perdomo, S., 3115W 

Perea-Díaz, F. J., 2363F 

Perego, U. A., 3340F 

Pereira, A., 1593T 

Pereira, A. C., 636T, 1629T, 

3160F, 3184F 

Pereira, C. S., 941W 

Pereira, E. T., 2642F 

Pereira, F. A., 840F 

Pereira, F. S., 2825T* 

Pereira, I. A., 1405F 

Pereira, L., 1343W*, 3325F 

Pereira, L. C., 2352W 

Pereira, L. V., 776W 

Pereira, P., 2404T* 

Pereira, P. D., 479F 

Pereira, R. W., 1202F, 

1880F, 2223W, 3272W 

Pereira, S., 70 

Pereira, S. L., 2932W 

Pereira Filho, S. A. C., 

2751F 

Pereira-Latini, A. C., 2289W 

Pereira- Leal, J. B., 2261F 

Perera, M., 646T 

Perera, N., 1108T 

Perez, A., 2540F*, 3131W 

Perez, A.-B., 895W 

Perez, A. B. A., 2484W, 

2485T 

Pérez, C., 2300F 

Perez, I. C., 2837T 

Perez, M. J., 77, 3129W 

Perez, R. J. M., 3039W 

Perez, S., 827F 

Perez-Jurado, L., 84 

Perez-Jurado, L. A., 2711T*, 

3084F, 3208F 

Perez-Nuño, M., 650T 

Perez-Quiñones, M. L., 

3363T 

Perez Siles, G., 2742F 

Perez-Stable, E., 1075T 

Perez-Vera, P., 1141T, 

3040F 

Pérez-Vera, P., 872T, 1022F, 

1131W 

Pergadia, M. L., 2212T 

Pericak-Vance, M., 492W, 

1571W, 3706W 

Pericak-Vance, M. A., 

Session 7, 9, 15, 270, 

341, 342, 343, 344, 347, 

588W, 1476T, 1489F, 

1644T, 1834F, 2028W, 

2049W, 2154W, 2185T, 

2240F, 2263T, 2299T, 

2318F, 2330F, 2445W, 

2498F, 2508W, 2572T, 

2583W, 2586W, 2614T, 

2637W, 3335W 

Perin, J., 2904F 

Perin, J. C., 2943F 

Periyasamy, G., 2967T 

Perlberg, S., 2447F, 

2991T 

Perls, T., 2040W 

Permaul, J., 1852F 

Perola, M., 656T, 1253F, 

1436W, 1563T, 2059T, 

2132F, 2175W, 2366F, 

2462F 

Perrault, I., 324*, 390 

Perrier, R., 910T, 1052F 

Perrin, M., 2126F 

Perry, B. J., 845F 

Perry, G. H., 3251W 

Perry, J. R. B., 111, 2073W, 

2165F* 



Perry, R., 2648F 

Pers, T., 2090F 

Pers, T. H., 2241W* 

Persani, L., 2701W 

Perseu, L., 2001W 

Persico, I., 2062T* 

Person, R., 1742W 

Person, R. E., 314 

Perszyk, A., 687F*, 740T, 

743F, 3239W 

Pertesi, M., 1213T 

Perucha, E., 2082W 

Perusse, L., 2116T 

Pescarini, J., 1343W, 

2352W* 

Pescatore, A., 505F 

Pesce, L. L., 1614T 

Peskett, E., 2752W, 2859F 

Peskind, E., 340 

Peskind, E. R., 2646W 

Pessah, I. N., 2491T 

Petanovski, Z., 2983T 

Petek, E., 2570F 

Petek, L. M., 55, 2224T 

Peter, B., 2432F*, 3300T, 

3311W 

Peter, B. J., 971W 

Peter, I., 17, 1320T, 1777W, 

2151W, 2576F, 3488T 

Peter, J., 2205W 

Peterlin, B., 3001T 

Peterlongo, P., 27 

Peters, A., 275, 2226W, 

2568W 

Peters, J. A., 1064F 

Peters, M. J., 584W*, 1284T, 

1503T, 2141F 

Peters, U., 1437T, 1608T, 

1925F, 2337W 

Peterschmitt, M. J., 773W* 

Petersen, A., 2862F 

Petersen, B., 3583F 

Petersen, B.-S., 2315F* 

Petersen, D. C., 1085F, 

3332W* 

Petersen, G., 603T, 1088F, 

1161W, 1199F, 1267T 

Petersen, M. B., 2862F 

Petersen, O. B., 3148F 

Peterson, L., 2220W 

Peterson, R. E., 2277W* 

Petit, F., 3172F 

Petkovich, M., 2926W 

Petkovič Ramadža, D., 214 

Petraroli, R., 1060T 

Petrek, M., 2103W 

Petri, A., 2827W 

Petri, M., 1979F 

Petridi, S., 809F 

Petrikin, J. E., 366 

Petrill, S. A., 2544W 

Petronis, A., 377, 3490T 

Petropoulos, C., 3682W 

Petrosino, J., 3600W 

Petrosyan, P., 3587F 

Petru, E., 1115F 

Petrulis, M., 1879T 

Pettersen, B. J., 73 

Petukhova, G., 417F, 592W 

Petukhova, L., 2182T* 


Petzl-Erler, M. L., 1405F 

Pevsner, J., 3374W 

Peyrard-Janvid, M., 1976F 

Pezanowski, D., 924T 

Pezzolesi, M. G., 2313W* 

Pfeifer, S., 285 

Pfeiffer, R. M., 1314T 

Pfeiffer, W., 494W, 1239W 

Pfeufer, A., 86* 

Pfister, S., 1182W 

Pflückhahn, U., 1200W, 

1233W 

Pfundt, R., 100, 102, 214, 

955W, 979W*, 2848W 

PGen Study Group, 1825W 

Phadke, S. R., 2739F 

Pham, J., 952T 

Pham, L., 3699F 

Pham, P., 1742W, 1757W, 

1761W, 3576W 

Pham, P. A., 314, 1735W 

Phan, L., 3582W, 3625F 

Phan, V., 78 

Phanstiel, D. H., 416W 

Pharoah, P., 139, 1150T 

Pharoah, P. D. P., 206, 209, 

210, 1156T 

Phelan, C. M., 1156T 

Phelan, K., 907W, 3052F* 

Phelan, M., 3699F* 

Phelps, I. G., 10, 2772F, 

2789T 

Philip, G. K., 1224W 

Philippe, C., 2792T 

Phillips, D. L., 3344W 

Phillips III, J. A., 2732T 

Phillips, J., 730T 

Phillips, K., 949W 

Phillips, M., 788W, 3401W 

Phillips, S. L., 107 

Phouanenavong, S., 407 

Piard, J., 3199W* 

Piaza, A. C. S., 514W 

Piazuelo, M. B., 3388F 

Piazzon, F., 896T 

Piazzon, F. B., 899W*, 

3045W 

Pibarot, P., 1655T 

Picanço, C. G., 941W 

Picard, A., 983F 

Piccolini, E., 1153T 

Piccolo, P., 735F 

Picher, M. M., 59 

Pichler, M., 1115F 

Pichot, C. S., 3433T 

Pickering, D. L., 968T* 

Pickett, H., 210 

Pickle, L., 3717F 

Pickrell, J. K., 3367F* 

Pic-Taylor, A., 903W* 

Pidsley, R., 3476T* 

Piehl, F., 2561F 

Piehler, A. P., 576W, 643T 

Pierard, G. E., 129 

Pierce, B., Session 21, 

1638T, 2025W* 

Pierce, E. A., 1756W, 2943F, 

3653F 

Pierce, J., 3587F 

Pierce, R., 2221T 

Pierce, S. B., 2929W* 

Pieri, P. C., 2863W 

Pierquin, G., 925W 

Pietiläinen, K. H., 2256W 

Pietiläinen, O., 252*, 2399F 

Pietrement, C., 324 

Pietrzykowski, A. Z., 507F* 

Pignatti, P. F., 1361W, 

2548T, 2659T 

Piherova, L., 752T 

Pihko, H., 327 

Pihur, V., 305 

Pike, K., 13 

Pilarski, R., 1197W* 

Pillai, N. E., 3339T 

Pillalamarri, V., 68, 70 

Pillers, D., 2830W, 3287W* 

Pilling, L., 584W 

Pilorge, M., 901W 

Pilu, R., 157 

Pilz, D., 124 

Pimenta, G., 2404T 

Pimlott, N., 1852F 

Pina, R., 3019T 

Pina Neto, J. M., 3099W 

Pinder, C. L., 3382F 

Pineda, M., 684T 

Pineda, T., 703F, 3190F* 

Pineda, V. V., 2456F 

Pineda Alvarez, D., 332 

Ping, W., 2879T 

Pingault, V., 2727F 

Pinner, J. R., 3167W 

Pinney, S. M., 1454W 

Pinnkas, P., 3671F 

Pino-Yanes, M., 2296T* 

Pinto, D., 2577W*, 2620T 

Pinto, E. M., 2706F 

Pinto, F. R., 2373W 

Piotrowski, A., 434W 

Piper, J., 436W 

Pipiras, E., 973W*, 2784F 

Pique-Regi, R., 2 

Pirags, V., 608T 

Piras, M. G., 177, 547F, 

1516F, 2198F, 2329T 

Piras, R., 157, 847F 

Pirastu, M., 2062T, 2128T 

Pirastu, N., 1484W, 2128T, 

2366F 

Piravej, K., 2749W 

Pires, F., 1170W 

Piri, N., 2832F 

Pirim, D., 1672T* 

Pirinen, M., 1340W, 2157W 

Pirooznia, M., 2180F, 2305T 

Piryaei, F., 754W*, 754W, 

2367W*, 2367W 

Pischler, C., 3116F 

Piscopo, I., 808F 

Piscopo, M., 3492T 

Pishotta, F., 2537F 

Piskol, R., 289*, 527F 

Pistis, G., 1451W* 

Pitchappan, R., 3377W 

Piteau, S. J., 671F* 

Pitman, T., 658T 

Pitstick, L., 2670F 

Pittaway, J., 780W 

Pitzalis, D., 113 

Pitzalis, M., 157, 177, 186, 

3664W 

Piveta, C. S. C., 479F* 

Pivnick, E., 3119W 

Pizzo, M., 2950W 

Place, E., 534W, 2943F 

Place, E. M., 1756W 

Plagnol, V., 122, 453F, 

1621T, 2072F, 2812W, 

3600W 

Plajzer-Frick, I., 407 

Planchon, A., 401, 556W, 

561F 

Plaseska-Karanfilska, D., 

2983T* 

Plaster, C., 3322F 

Platt, A., 185* 

Platt, D., 1640T, 3349F 

Platt, F. M., 162 

Platt, S. R., 2805F 

Platzer, M., 580W, 1236W 

Plazzer, J. P., 1130F 

Plebani, A., 760W 

Plecko, B., 756W 

Plenge, R. M., 625T, 1490W, 

2047T, 2199W, 2210F, 

2258F 

Pleshko, N., 826F 

Plessis, G., 3109W 

Pletnikova, O., 2648F 

Plitnik, T., 2586W 

Plomin, R., 2164T, 3487T 

Plon, S. E., 134, 314, 430W, 

1221W*, 1735W, 1742W, 

1761W, 1798F, 3549F 

Plona, T., 13 

Plongthongkum, N., 3474T 

Plotsky, Y., 1165T 

Plourde, F., 1065W* 

Plowe, C., 2255F 

Plumari, M., 2781F 

Plumb, I., 1193F 

Plummer, F., 3276T 

Plummer, F. A., 490W 

Plunkett, K., 952T 

Plunkett III, G., 3671F 

Pluye, P., 1852F 

Pluzhnikov, A., 2333F, 3735F 

PMG Awareness 

Organization, Inc., 3239W 

Pochet, N., 322 

Poddie, F., 157 

Podolsky, R., 3418T 

Poduri, A., 266* 

Poeta, L., 2629T* 

Pogue, R., 1202F, 1880F 

Pogue-Geile, M. F., 2589W, 

2651F 

Poh, W. T., 3339T 

Pohl, E., 1, 3214F 

Poidevin, M., 2477F 

Poirot, B., 1205F 

Pokholok, D., 3695F 

Polak, P., 402, 1550W* 

Poland, G. A., 1426F 

Polasek, O., 1383T 

Polenakovic, M., 3481T 

Poletta, F., 1936T 

Pollack, S., 350, 1331W, 

1360F, 2210F, 3413W

Pollack-Berti, A., 3671F 

Pollak, M. N., 2080T 

Pollak, M. R., 284 

Pollard, K. S., Session 5, 

195 

Pollett, A., 1093T 

Polley, S., 450W* 

Polli, R., 1755W, 2795T* 

Pollin, T., 249 

Pollin, T. I., 1671T, 3027T 

Poll-The, B. T., 197, 2909T 

Polonikov, A. V., 2271W 

Polsinelli, G., 2408F 

Polverino, A., 1985F, 3492T* 

Polyak, E., 534W, 2943F 

Polychronakos, C., 5, 277, 

1915T 

Polzin, K. O., 1286W 

Pomilla, C., 3412T 

Ponciano-Jackson, D., 

1302T 

Pond, A., 3648W 

Pond, A. C., 1251W* 

Pond, S., 1684T 

Pons-Estel, B., 2046W 

Pontes, T. B., 1132T, 3503T 

Pont-Kingdon, G., 1752W*, 

3182F 

Pook, M., 761W 

Pooley, K. A., 210 

Poon, R., 1369F 

Popadin, K., 85*, 3263W 

Pope, B. J., 1213T, 3679F 

Pope, K., 131 

Pope, R. M., 323 

Poplin, R., 41, 288 

Popov, J., 2260T 

Popovic, M., 3395W 

Poppe, B., 423F 

Popper, T., 1108T 

Porchet, N., 3172F 

Porcu, E., 157, 2198F* 

Porcu, L., 2001W 

Porkka-Heiskanen, T., 2462F 

Porreca, G., 1729W 

Porreca, G. J., 3640W, 

3680W* 

Porreca, G. P., 3693F 

Portas, L., 2062T, 2128T 

Portela, L. V. C., 2424W 

Porter, F. D., 162 

Porter, M., 969W*, 3530W 

Porter-Gill, P., 1091F, 

1092W, 1094F* 

Portlock, C., 1159T 

Pospiech, H., 1099T 

Post, W., 1662T 

Post, W. S., 301 

Posthuma, D., 98 

Postiglione, A., 1985F 

Potash, J. B., 369, 2180F, 

2305T, 2372F, 2391W 

Potkin, S., 3587F 

Potkin, S. G., 2469W, 2564F 

Potocki, L., Session 28 

Potter, B. K., 142, 149, 150, 

1827W 

Potter, C., 3419T* 

Pottier, C., 345 

Pottinger, S., 2139W 


Potts, A., 247 

Pouget, J., 328 

Poulain, P., 3170F 

Poulin, M., 3425T* 

Poulizac, P., 716T 

Poulou, M., 2995T 

Pourahmad, R., 1596T 

Pourcain, B. S., 1528F 

Pourjafari, B., 860T 

Pour-Jafari, H., 860T* 

Povysil, G., 1483F, 1486F* 

Powell, A., 3694W 

Powell, B., 876T, 1221W, 

3601F* 

Powell, C., 2090F, 2241W, 

2328W 

Powell, H., 2302T 

Powell, J., 778W, 1199F, 

3471T 

Powell, S., 2542T 

Powell, W., 3498T 

Powell, W. T., 64* 

Power, R. A., 2509T* 

Powers, N. R., 1973F, 

2010W* 

Pöyhönen, M., 897W 

Pöyhönen, R., 327 

Poznik, G. D., 3368W* 

Pozzi, E., 790W 

Prabhu, S., 353* 

PRACTICAL Consortium, 

205, 1148F 

Prada, C., 789W* 

Pradhan, S., 3702W 

Pradhan, V., 1572T 

Prado, D. M., 3187W 

Prado, W., 1119W 

Prahalad, S., 2143T 

Prakash, G., 2293T* 

Prakash, S. K., 1743W* 

Prakruthi, P., 1108T 

Pramathan, T., 160 

Pramstaller, P. P., 86, 2080T, 

2366F 

Pranculis, A., 653T*, 920T 

Prandini, P., 2548T, 2659T 

Pras, E., 53, 783W, 2875W 

Prasad, A., 175, 2575T, 

2620T 

Prasad, K., 2589W, 2651F 

Prasad, R., 481F, 802W* 

Prasanna, S., 1701T 

Prasun, P., 3147W* 

Pratt, H., 1969T 

Pratt, J. G., 1566T 

Pratto, F., 592W* 

Prawitt, D., 3496T 

Prchal, J. T., 3297T 

Predazzi, I., 1668T* 

Predazzi, I. M., 1634T 

Preethi, T., 878T 

Pregizer, S., 837F 

Preil, M. L., 2869W 

Prenni, J., 1189T, 1990T 

Prera, E., 2753T* 

Prescott, C. A., 2504F 

Prescott, K., 129 

Prescott, T., 2926W 

Pressey, J. G., 1186T 

Presson, A. P., 1867F* 


Preto, P., 2393F 

Pretorius, M., 606T 

PreventCD Group, 1330F 

Previtali, S., 2948T 

Previtali, S. C., 201 

Pribadi, M., 2639F 

Price, A., 284, 350, 1360F*, 

2199W, 2210F, 3310F, 

3413W 

Price, A. L., 89, 1331W, 

1577W, 3407W 

Price, E., 3734W* 

Price, J., 2668W 

Price, S., 131 

Price, T. S., 3487T 

Price, V., 167 

Priebe, L., 420W 

Priest, J. R., 1065W 

Prieto, J. C., 3049W 

Prieto Rivera, J. C., 3077W 

Prieur-Gaston, E., 3538W 

Prill, R. J., 3569F* 

Priller, J., 684T 

Primorac, D., 3286F 

Prince, A., 1809W* 

Prince, J., 1189T, 1990T 

Prince, S., 762W 

Prins, B. P., 111, 2073W 

Prinz, M., 1591T 

Pristauz, G., 1115F 

Pritchard, J., 2, 273, 368 

Pritchard, J. K., 3367F 

Priya, R. R., 2183F* 

Probst, F., 898T 

Procter, M., 689F* 

Prodam, F., 2827W 

Proffitt, J. M., 2309F 

Prokisch, H., 275, 584W, 

699F, 782W, 2917W 

Prokopenko, I., 119, 190, 

269, 1308T, 1528F, 

2076W, 2106W, 2137T* 

Prokunina-Olsson, L., 

510W, 1091F, 1092W, 

1094F, 1097F, 1155W 

Prom-Wormley, E. C., 

2277W 

Proost, D., 1617T 

Prosper, B., 842F 

Prost, S., 3333T 

PROTECT Group, 205 

Provenzale, J., 785W 

Province, M. A., Session 8, 

18, 1641T, 1650T, 1661T, 

2093F 

Provost, S., 2402F 

Prucha, H., 86 

Prust, M., 2452T 

Przeworski, M., 285 

Przybylo, J., 1159T 

Psaty, B., 174, 349, 584W, 

1599T 

Psaty, B. M., 170, 1284T, 

1503T, 1585T, 2080T 

Psoni, S., 2937F 

Psychiatric Genomics 


Psychiatric Genomics 

Consortium: ADHD 

Subgroup, 2515T 

Psychiatric GWAS 


Psychiatric GWAS 

Consortium - 

Schizophrenia & Autism 

Working Group, 352 

Psychogios, A., 1682T* 

Ptacek, L. J., 2423F, 2581T, 

2667F, 2779W 

Pu, S., 1872F, 1873F 

Puck, J., 362 

Puckelwartz, M. J., 1614T, 

1683T* 

Puddu, A., 847F 

Puebla, A. M., 1077W, 

1111T, 1127F*, 1128W 

Puechberty, J., 857W, 936T, 

2386T, 2729T, 3121W, 

3166F 

Puel, A., 365 

Puel, J. L., 2685F 

Puente, X. S., 2578T 

Puffenberger, E. G., 1052F, 

2800W 

Puga, A. C., 773W 

Pugash, D., 3006T 

Puggal, M., 2247W 

Pugh, E., 1447F, 2098T, 

2556W 

Pugh, E. W., 46, 1452T*, 

1512T 

Pugh, T. J., 1754W 

Pugliese, A., 3600W 

Puglisi, M. A., 2235W 

Puig, A., 2940F 

Puig, O., 1252T 

Puig, S., 1053W 

Puig-Butille, J. A., 1053W 

Pulford, D., 630T 

Pulijaal, V., 3012T 

Pulit, S., 1585T 

Pulit, S. L., 1692T* 

Pullinger, C. R., 1694T 

Pulver, A., 2387F, 2461T, 

2486F 

Pulver, A. E., 2573F, 2576F 

Punaro, M., 2143T 

Pupacdi, B., 2918T, 3570W* 

Pupavac, M., 848F 

Puppala, S., 2339F 

Purcell, S., 280, 290, 1325W, 

1447F, 2487W, 2618F 

Purcell, S. M., 22, 2577W 

Purchase, T. R., 454W 

Purdie, C., 1082F 

Purdon, S., 2474F 

Purdue, M., 1012T, 1413T 

Purdue, M. P., 1091F 

Purdy, M., 3730W 

Purevdorj, I., 3248F 

Purevdorj, M., 3248F 

Puri, M., 3463T 

Puri, R., 1720W*, 2754F, 

3236F 

Purrazzella, J., 391 

Purser, S., 2474F 

Pursley, A., 952T 

Pursley, A. N., 898T 

Puschmann, A., 2438F 

Pussila, M., 982T 



Putheti, P., 2260T 

Putonti, C., 591F 

Putoux, A., 3240F* 

Puts, D. A., 2223W 

Puttonen, S., 2462F 

Puura, K., 2383T 

Pyatt, R., 98 

Pyatt, R. E., 103, 456W, 912T 

Pyle, A., 751F* 

Pylkäs, K., 1099T 

Pyridoxine Dependent 

Epilepsy Consortium, 

756W 

Q 

Qaadri, K., 3571F* 

Qahar, Z., 2909T 

Qazi, A., 1093T 

Qi, L., 51, 1357F, 1954T, 

2123F, 2147F, 2354F, 

2360F* 

Qi, Q., 51, 1357F, 2354F* 

Qi, X., 3317W 

Qi, Y., 1772W 

Qi, Z., 963W 

Qiao, D., 1536T* 

Qiao, Y., 447F, 491F, 517F* 

Qiao, Y.-L., 1010F 

Qiao, Y. L., 1076F 

Qin, D. Q., 1723W 

Qin, H., 1404T*, 3572W* 

Qin, J., 3237W 

Qin, N., 1032W* 

Qin, P., 3334F*, 3394T 

Qin, S., 654T* 

Qin, W., 2407T 

Qin, X., 386 

Qin, Z., 1558F, 3265F 

Qing, G., 3378T 

Qiu, C., 1252T 

Qiu, F., 1295W 

Qiu, H., 2121W, 2546F, 

3573F* 

Qiu, K., 3553F 

Qiu, R., 74, 94 

Qiu, W., 536W 

Qiu, X., 1108T 

Q-MEGA and AMFS 

Investigators, 212 

Qoqandi, M. A., 1738W 

Qu, H., 5 

Qu, H. Q., 1915T, 2048F, 

2345F* 

Qu, K., 1198T 

Qu, L., 812F 

Qu, Y., 680T 

Quach, H., 1289W, 1301W*, 

1455T, 1924T, 3304F*, 

3454T 

Quaio, C. R. D. C., 2232W, 

3152F, 3160F* 

Quarles, J. M., 2189F 

Quartararo, J., 2810T 

Quattrone, A., 2763F, 2766F, 

2774T 

Quaye, L., 2138F* 

Quaynor, S., 2984T* 

Queiroz, L. S., 514W 


Quentric, M., 2002T* 

Quertermous, T., 1624T 

Quesenberry, C., 96 

Quezado, M., 2786T 

Quh, H., 255 

Qui, H., 2229W 

Quiezi, R., 3072F 

Quillen, E. E., 2223W, 

2308T, 2589W, 2651F* 

Quindipan, C., 1721W* 

Quinlan, A., 12, 1971W 

Quinlan, A. R., 3632W 

Quinlan, J., 3260W 

Quinlan, P., 1082F 

Quinn, B., 161 

Quinn, E., 2283W, 2581T 

Quinn, J., 1274F, 2538W 

Quinn, J. F., 2421W, 2510F* 

Quintana, M. A., 1435F* 

Quintana-Murci, L., Session 

6, 3304F, 3368W, 3599F 

Quintero, F., 315 

Quintero-Rivera, F., 82* 

Quinti, I., 760W 

Quon, G., 3468T 

R 

Raabe-Meyer, G., 3111W 

Rabai, E., 2767W 

Rabban, J., 1059W 

Rabe, K., 1161W 

Rabès, J.-P., 1607T 

Rabiller, D., 3705F 

Rabin, K., 134 

Rabinowitz, M., 73, 3018T* 

Rabionet, R., 84, 2326T, 

2940F* 

Raby, B., 536W 

Rachel, R. A., 824F 

Racher, H., 3665F* 

Rachiglio, A. M., 1060T 

Racimo, F., 3274F* 

Racine, B., 1543F 

Raczy, C., 3663F 

Radecki, J., 3681F* 

Radek, A., 585F, 3718W 

Rademacher, K., 3496T 

Rademakers, R., 2639F 

Radfar, L., 529F, 2188T 

Radhakrishna, U., 2351F, 

2731W 

Radhakrishnan, A., 110 

Radice, P., 27 

Radom-Aizik, S., 3249W 

Radovich, M., 1098W 

Radwan, Z. H., 1673T* 

Raedler, A., 2368T 

Rafaels, N., 2043W 

Rafaels, N. M., 1900T* 

Rafati, S., 1949F 

Rafeeq, M., 2663T 

Raff, J., 3323W* 

Raffan, E., 45 

Raffel, L. J., 1916F 

Rafi, S. K., 2265W* 

Rafiq, M. A., 2398T* 

Ragge, N. K., 3161W* 

Raggio, C., 826F, 3128F 

Raghav, S., 415F 

Raghavendra, R., 1295W 

Raghuraman, S., 3433T 

Ragon, C., 2729T, 2792T 

Ragoussis, I., 3161W 

Ragoussis, J., 509F 

Rahi, J. S., 335 

Rahimian, G., 1143W, 1739W 

Rahimov, F., 2962W* 

Rahman, A., 1070F 

Rahman, N., 138, 213, 1211F 

Rahman, P., 154, 448W, 

454W, 1952F 

Rahman, R., 3661F 

Rahmioglu, N., 2077T* 

Rahmouni, K., 2671W 

Rahrmann, E., 1229F 

Rai, E., 1901F*, 2284T 

Raia, M., 1908W 

Raible, D. W., 3296W 

Raichel Jacob, R., 1044W 

Raijas, P., 2181W 

Raik, E., 932T 

Raiman, J., 3196F 

Raime, K., 1140W 

Raimo, S., 505F 

Rainwater, D. L., 3434T 

Raitakari, O., 656T, 1623T, 

2059T, 2097W, 2120F 

Raitakari, O. T., 2116T, 

2173T, 2366F 

Raivio, T., 2707W 

Raj, P., 1901F, 2284T 

Raj, S., 764W, 1287T*, 

1288F, 1294F, 1883F 

Raj, S. M., 357* 

Raj, T., 2250W*, 3310F 

Rajab, A., 1877F 

Rajadhyaksha, A., 1633T 

Rajagopalan, R., 1605T, 

3369T* 

Rajagopalan, R. R., 2443T 

Rajaraman, P., 1372F 

Rajasimha, H., 1774W 

Rajasimha, H. K., 2183F 

Rajbhandary, R., 344, 

1571W, 2498F, 2583W, 

2586W, 2637W 

Rajcan-Separovic, E., 491F, 

517F, 2977T 

Rajender, S., 1950W* 

Rajendram, R., 3456T 

Rajendran, S., 339 

Rajive, K., 29 

Rajkovic, A., 904T, 971W, 

993W, 1744W, 2042F 

Rajput, A., 346 

Rajput, A. H., 346 

Rajput, M. L., 346 

Rak, J., 1182W 

Rakovic, A., 204 

Ralph, P., 282* 

Ralston, J. D., 1828F 

Ramachandran, D., 1349W, 

2069F*, 2312F 

Ramachandran, S., 3361F, 

3370F* 

Ramachandran, V., 1584T 

Ramagopalan, S., 2015F 

Ramakrishnan, R., 3652W 

Ramallo, V., 3362W 

Ramanan, V., 2531F 

Ramanan, V. K., 2511W* 

Ramanathan, S., 3068F, 

3191W* 

Ramani, R., 3213W 

Ramasamy, A., 374, 564W* 

Ramaswami, G., 289, 

543F*, 577F 

Ramazi, S., 1421W* 

Ramazi, S. H., 892T 

Ramensky, V., 1480F, 2343W 

Ramesar, R., 762W 

Ramezani, M., 754W 

Ramirez, A. R., 647T 

Ramirez, C. T., 2467T* 

Ramirez, F., 81*, 767W, 

815F, 1698T 

Ramirez, J., 613T 

Ramirez, M., 2495F, 3669F 

Ramírez, R., 1127F 

Ramirez-Garcia, S. A., 

3187W 

Ramirez-Solis, R., 105 

Ramke, J., 1305T 

Rammamoorthy, S., 261 

Rammensee, H. G., 1200W, 

1233W 

Rammohan, K. W., 2049W 

Ramocki, M. B., 229, 299, 

337 

Ramos, A., 1111T, 1127F, 

1128W* 

Ramos, E., 241* 

Ramos, E. M., 1566T, 

1964F* 

Ramos, E. S., 941W 

Ramos, F., 3019T 

Ramos, L., 3019T 

Ramos, P., 1186T* 

Ramos, P. S., 3371W* 

Ramos, S., 928T* 

Ramos, Y. F., 584W 

Rampersaud, E., 1681T, 

2185T 

Ramsay, E., 138, 1211F 

Ramsay, P., 1455T, 3454T 

Ramsay, P. P., 1289W, 

1301W 

Ramsey, S., 456W, 912T 

Ramsey-Goldman, R., 

1979F, 2099F 

Ramsing, M., 3148F 

Ramsook, S. S., 9 

Ramu, A., 2982T 

Ramus, S., 139 

Ramus, S. J., 1156T* 

Ramzan, K., 2734W*, 

2743W 

Rana, S., 362 

Ranade, S., 3659F 

Ranatunga, D., 96, 230, 

2513F, 3342T 

Ranatunga, D. K., 118, 

2140T 

Ranchalis, J., 1605T 

Ranciaro, A., 3303T, 

3338W 

Randall, J., 108 

Randolph, L., 728T*

Raney, B., 3557F 

Rangel, C., 526W 

Rangel-Escareño, C., 

1129T*, 3255T 

Rangrej, J., 1093T 

Rank, D., 477F 

Rankin, K. J., 2639F 

Rantapää-Dahlqvist, S., 

461F 

Rantus, J. A., 2572T 

Ranum, L. P. W., 2645F 

Rao, A. R., 471F* 

Rao, D., 2063F 

Rao, J. U., 1220F 

Rao, K. P., 1234T 

Rao, K. R. S. S., 2351F 

Rao, M., 1456F* 

Rao, M. V., 2731W 

Rao, N., 873W 

Rao, P., 134 

Rao, P. N., 1029W 

Raouf, R., 1877F 

Raoul, O., 915W 

Rapoport, J., 433F, 2479T, 

2558F, 2584T 

Raposo, A., 2814F 

Raposo, J., 3019T 

Rappaport, E., 534W, 2904F 

Rappold, G., 2595W 

Rappold, G. A., 1612T* 

Rashkin, S., 641T 

Rasi, C., 434W 

Raska, P., 3409W* 

Raskin, S., 870T*, 2475W, 

2609F, 3055W 

Raskind, W., 2406W, 2432F 

Raskind, W. H., 2549F* 

Rasmussen, F., 2965W 

Rasmussen, M., 2965W, 

3148F* 

Rasmussen, S. A., 1867F 

Rasmussen-Torvik, L. J., 

2116T 

Rasolonjatovo, I., 3694W 

Rasool, M., 2920W 

Rassenti, L., 395 

Rastetter, A., 2820F 

Ratain, M., 613T 

Ratan, A., 3545F 

Ratan, R., 2437T 

Ratbi, I., 708T 

Ratcliffe, P., 509F 

Rath, L., 1309F 

Rath, M., 532W* 

Rathkolb, B., 2922F 

Ratié, L., 2893W 

Ratjen, F., 142 

Ratnamala, U., 2351F, 

2731W 

Rattanasopha, S., 1944W 

Ratti, A., 2775F 

Rauch, A., 2356T, 2595W, 

3240F 

Rauch, F., 3169W 

Rauen, K., 99, 300, 3139W 

Rauen, K. A., 1274F, 3242F 

Rauhala, H., 1000T 

Rau-Murthy, R., 998F, 

999W, 1159T, 1841W 

Rauramaa, R., 1608T 


Rautanen, A., 1948T, 

2157W* 

Rautenstrauss, B., 61, 

758W* 

Rava, R., 3021T 

Raval, R. P., 1130F* 

Raveendrababu, M., 2731W 

Raveendran, M., 595F*, 

2413T 

Ravi, H., 3669F 

Ravi, R., 3376F 

Ravichandran, A., 2328W 

Ravichandran, K., 861W 

Ravindran, P., 3574W* 

Ravnan, J. B., 884T, 3101W 

Ravnik-Glavač, M., 3422T 

Rawat, A., 3207W 

Ray, A., 1356T, 1393F* 

Ray, F. A., 948T* 

Ray, P. N., 2554T, 2905W 

Raychaudhuri, S., 1907F*, 

2047T, 2199W, 2210F, 

2250W 

Rayford, W., 1040F 

Raymond, D., 2801T 

Raymond, P., 843F 

Raymond, V., 1951T 

Rayner, N. W., 2044T, 3575F* 

Rayner, W., 3396T 

Raz, T., 3700W* 

Raz, V., 542W 

Raza, M. H., 1956W*, 1958F 

Razak, A., 1824F 

Razavi, F., 2770W 

Raznahan, A., 433F 

Razzaghian, H. R., 434W 

Real, F. X., 1091F 

Realini, T., 2154W, 2240F 

Reardon, W., 2925F 

Rebbeck, T., 283 

Rebbeck, T. R., 1003T, 

1307W 

Rebeiro, P., 2554T 

Rebelo, A., 2668W* 

Rebollo Mesa, I., 2082W 

Receveur, A., 3117W 

Rech, R., 2805F 

Recker, R. R., 3081W 

Reddel, R., 210 

Reddy, K., 2696T, 3059W* 

Reddy, M., 3717F 

Reddy, S. U., 3455T 

Rede Neurogenética, 2642F 

Redett, R. J., 1472W 

Redl, D., 2800W 

Redler, S., 106 

Redline, S., 2375F 

Reed, B., 3717F 

Reed, D., 2135F 

Reed, R., 784W 

Reed, X., 545F* 

Reeder, A., 1737W 

Rees, E., 1325W 

Rees, M. I., 262, 2821W* 

Reese, M., 3602W 

Reese, M. G., 195, 1770W 

Reeves, K., 2300F 

Reeves, R., 310 

Reeves, R. H., 1349W, 

2069F 


Regalado, E., 1789W* 

Regan, E. A., 2249F 

Regan, J., 3690W 

Regan, L., 3508T 

Regazzo, D., 2708T 

Regev, A., 322, 528W 

Register, T. C., 1661T 

REGISTRY Investigators of 

EHDN, 2641T 

Regla-Nava, J. A., 2363F 

Rego, E. M., 1045T 

Rehermann, B., 1155W 

Rehm, H. L., Session 77, 

1677T, 1754W 

Rehnström, K., 252, 2344T*, 

2399F 

Rei, N., 1977W 

Reich, D., 178, 284, 333, 

350, 3347W, 3372T 

Reid, J., 349, 360, 1742W, 

2798T, 2880F, 2934F, 

3597F 

Reid, J. G., 314, 1592T, 

1735W, 1757W, 1761W, 

2883F, 3576W* 

Reid, K., 309 

Reid, K. P., 3267T 

Reid, M., 1906T, 2158T 

Reider, M. J., 171 

Reilly, E., 1860F 

Reilly, M., 1642T, 3551F 

Reilly, M. P., 115 

Reilly, P., 617T, 619T 

Reinateo, S., 100 

Reinders, M., 494W 

Reinders, M. J. T., 1436W 

Reindollar, R. H., 2732T 

Reiner, A. P., 170, 1408F, 

1437T, 1913F, 2063F, 

2131T, 2337W 

Reiner, G., 534W 

Reiner, J., 917W* 

Reinhard, C., 1369F 

Reinhard, C. R., 1235F 

Reinhart-Mercer, L., 3335W 

Reinholdt, L., 983F 

Reinier, F., 113, 157, 177, 

186, 547F, 1451W 

Reinmaa, E., 1284T, 1503T 

Reinscheidt, A., 3550W 

Reis, A., 154, 2160W*, 

2356T, 2557T, 2595W, 

2666T, 3235W 

Reis, G. S., 1902W* 

Reis, L. A. M., 514W 

Reis, L. M., 2903T* 

Reis, S., 1647T, 2083T 

Reish, O., 858T* 

Reisi, S., 2013W 

Reiss, J., 1869F 

Reiter, L. T., 3119W 

Reitz, C., 343* 

Rejto, P., 1369F 

Relton, C. L., 3419T, 3455T 

Rembowska, J., 1057T 

Remmers, C., 263 

Remmert, C. S., 313 

Ren, B., 3509T 

Ren, H., 1779W 

Ren, W., 3025T 

Renard, M., 128, 2225F 

Renaud, D. L., 718T* 

Renbaum, P., 2991T, 3002T 

Renda, Y., 54 

Rendeiro, P., 1778W 

Rendon, A., 110, 383 

Renieri, A., 2604W 

Renkema, K. Y., 2848W* 

Renkens, I., 217, 2886F 

Renkonen-Sinisalo, L., 

1026W 

Rennard, S., 2249F 

Renner, S., 3153W 

Rennert, H., 3210F 

Rennert, O. M., 3506T 

Rensen, J. H. M., 102 

Renteria, M. E., 2054F* 

Renton, A. E., 2611T*, 2648F 

Renwick, A., 138, 1211F 

Repetto, G. M., 1658T*, 

2065T 

Repici, M., 2641T 

Repnikova, E. A., 103 

Repo, S., 499F 

Reppell, M., 3406T* 

Represa, A., 889W, 2674W 

Reprogen Consortium, 

2165F 

Requa, M., 3649F* 

Reshmi, S., 456W, 912T 

Ressler, K. J., 1422T, 2420F, 

2483F, 3480T 

Restagno, G., 2611T 

Restrepo, D., 835F 

Restrepo, N., 2041T* 

Retterer, K., 2579F 

Reuther, J., 1095W* 

REVEAL Study Group, 

1781W 

Reveille, J., 1291F 

Revilla, F., 2538W 

Rewers, M., 1330F 

Rex-Haffner, M., 2483F 

Reyes, A., 1022F 

Reyes-Carmona, S., 3504T 

Reyes-León, A., 1131W*, 

1141T 

Reyes-Romero, M. A., 

1121F 

Reyhani, N., 982T 

Reymond, A., 299, 415F*, 

506W, 2458T, 3256F, 

3674W 

Reynolds, A., 463F 

Reynolds, J. M., 502W* 

Reynolds, R. J., 2047T* 

Rezaian, I., 3490T 

Reznik-Wolf, H., 53 

Rhead, B., 3557F 

Rhee, H., 1248W 

Rheumatoid Arthritis 

Consortium for 

Immunochip, 2231F 

Rhoda, C., 853F 

Rhodenizer, D., 1758W 

Rhodes, B., 2005T 

Rhodes, K., 1237T 

Rhodes, M., 3717F 

Rhodes, S., 2026T*, 

2538W 



Rhodus, N., 2084F 

Rhodus, N. L., 529F, 2188T 

Rial-Sebbag, E., 1811W, 

1817W* 

Rianthavorn, P., 2006F 

Riazuddin, S., 1956W, 

2663T, 2724F, 2959W, 

3212F 

Riba, L., 2256W 

Ribas, A., 136 

Ribeiro, E. M., 2270F, 2642F 

Ribeiro, M. L., 1187F*, 

3502T 

Ribeiro, R. T., 167 

Ribeiro-Bicudo, L., 3072F* 

Ribeiro-dos-Santos, A., 

3364F, 3402T 

Ribeiro-dos-Santos, A. K., 

1629T 

Riboldi, G., 2775F 

Riboli, E., 987W 

Riby, J., 2055W, 3623F 

Ricceri, F., 1712T 

Ricci, E., 1776W 

Ricci, G., 1776W 

Riccio, A., 3496T 

Riccio Oliveira, R., 2043W 

Rice, G., 2452T 

Rice, J., 2114F 

Rice, J. P., 2170T 

Rice, K., 174, 2080T 

Rice, L., 741F 

Rich, S., 453F, 1408F, 1971W 

Rich, S. S., 117, 170, 1299T, 

1585T, 1662T, 2313W 

Rich, T., 1197W 

Richard, C., 714T, 801W 

Richard, G., 330, 332, 

1676T, 1765W, 2579F* 

Richard, P., 2436W 

Richard, S., 1212W 

Richards, A., 544W 

Richards, A. L., 370 

Richards, B., 1411F 

Richards, J., 391, 2135F 

Richards, J. B., 106, 109, 

277*, 649T, 1311T, 1595T 

Richards, J. E., 2154W, 

2240F, 2263T 

Richards, S., Session 3 

Richardson, A. S., 1467T 

Richardson, K., 2024F 

Richer, C., 394, 1207T, 

1215W 

Richieri-Costa, A., 2673F, 

2746W, 2863W, 3072F 

Richmond, R. C., 1583W* 

Richmond, S., 1528F 

Richmond, T., 3688W 

Richter, A., 1733W 

Richter, M. A., 612T 

Richter, S. J., 107 

Richter, U., 327 

Richterová, R., 2865F* 

Richtsmeier, J. T., 2151W 

Ricks-Santi, L., 1926W 

Rico, A., 1060T 

Rideout, A., 2480F, 3143W 

Rider, D., 1267T 

Rider, E., 196, 2389T, 3198F 


Rider, L. G., 434W 

Ridge, P. G., 340 

Ridge, P. G., Jr., 3643F* 

Ridker, P. M., 51, 109, 609T, 

2056T 

Ried, J. S., 119, 190, 1308T, 

2076W, 2137T, 2226W* 

Rieder, C. R. M., 2424W, 

2626T 

Rieder, M. J., 530W*, 

1605T 

Riegel, M., 879W* 

Rieger, G., 1957T 

Riegert-Johnson, D. L., 

1058F 

Riemenschneider, M., 

3577F* 

Riemer, C., 3545F 

Riemersma, M., 214 

Riess, O., 1200W, 1233W, 

2595W 

Riethdorf, S., 1115F 

Riethmaier, D., 332 

Riethman, H., 861W 

Rieu, P. N., 83 

Riffaud, L., 3170F 

Riffault, A., 1062W 

Rijlaarsdam, M. A., 1122W 

Riley, B. P., 2500T, 2504F, 

2594F, 2599T 

Riley, G., 3582W, 3625F 

Riley-Gillis, B., 1252T* 

Rimm, E. B., 51 

Rimmer, A., 2939T 

Rimoin, D. L., 130 

Rinaldi, D., 2539T 

Rinckleb, A. E., 1080W 

Rincon-Sanchez, A. R., 

3187W 

Rine, J., 75 

Rinella, E., 2078F* 

Ring, S., 1528F, 1567F, 

2081F 

Ring, S. M., 560W, 1318F, 

1583W, 1973F, 2010W, 

2169W 

Rinkel, G. J. E., 87 

Rinne, T. K., 955W 

Rio, M., 104*, 843F, 915W 

Rio Deiros, D., 595F 

Rion, J. R., 2260T 

Rioux, J., 3330T, 3401W 

Rioux, J. D., 1381F, 1678T, 

1982F, 2319W, 3382F 

Ripatti, S., 117, 119, 190, 

252, 656T, 1284T, 1308T, 

1503T, 1623T, 1709T, 

2076W, 2110T, 2137T, 

2173T, 2350T, 2399F 

Ripke, S., 352, 2487W, 

2509T, 2512T*, 2526W 

Rippey, C., 263* 

Ririe, M., 3189W 

Risacher, S. L., 2511W, 

2531F 

RISC Consortium, 3455T 

Risch, H., 1061F 

Risch, N., 7*, 96, 112, 118, 

230, 279, 421F, 620T, 

2140T, 3342T, 3383W 

Risch, R., 2513F 

Rischmueller, M., 2084F 

Riska, S. M., 986F 

Rissanen, A., 2256W 

Ristaldi, M. S., 2001W 

Ristoska-Bojkovska, N., 

845F 

Ritchie, M., 1442W, 1602T, 

2041T, 2098T 

Ritchie, M. D., 226, 618T, 

625T, 1312F, 1316W, 

1447F*, 2042F, 2258F, 

2491T, 3542W, 3624W 

Ritchie, W., 1664T 

Ritter, D., 1221W 

Rittinger, O., 297 

Ritz, B., 2026T, 2538W 

Rivadeneira, F., 87, 109, 

584W, 1284T, 1334W, 

1503T, 2053T, 2081F, 

2105F, 2169W 

Rivard, L., 1678T 

Rivas, M., 176, 269, 1513F 

Rivas, M. A., 169, 173, 

567F, 582W*, 1948T, 

2319W, 2324F 

Rivera, I., 3315T 

Rivera, S., 770W 

Rivera-Luna, R., 1131W 

Riviello, J. J., 266 

Rivier, F., 3121W, 3166F 

Rivière, J. B., 124 

Rizzo, G., 71 

Rizzu, P., 98 

Roa, B., 1021T 

Roach, J. C., 195, 2643W 

Robb, L., 1678T 

Robbins, J., 2360F 

Robbins, J. A., 2145W 

Roberson, D., 3683F 

Roberts, A. E., 82 

Roberts, A. L., 2005T* 

Roberts, D., 3459T, 3669F, 

3709F 

Roberts, J., 3054F*, 3089W 

Roberts, J. M., 1884W 

Roberts, J. S., Session 9, 

317, 1781W, 1825W 

Roberts, K., 3644W 

Roberts, M. E., 1058F 

Roberts, R., 115 

Roberts, W., 175, 3086F, 

3456T 

Robertson, J., 549F 

Robertson, K. R., 2517W 

Robertson, M., 967W 

Robertson, N., 3575F 

Robertson, N. G., 862T 

Robertson, S., 3006T, 

3100F 

Robichaux, A., 3036F 

Robins, H., 530W 

Robinson, A., 3704W, 

3716W, 3731F, 3733F* 

Robinson, D., 3161W 

Robinson, J., 322, 2020T 

Robinson, P. C., 152 

Robinson, P. N., 298, 2725W 

Robinson, R., 385, 1305T 

Robinson, W., 3734W 

Robinson, W. P., 2977T, 

2986T, 3429T, 3445T 

Robson, C. D., 2928F 

Robson, M., 998F, 1159T, 

1275W, 1841W 

Robson, P. J., 1297F 

Robyr, D., 550W, 3431T 

Roca, A., 3254W 

Rocha, C. S., 514W, 2394W, 

2655W, 2876T, 3578W* 

Rocha, J., 2223W, 3318T 

Rocha, K. M., 3152F 

Rocha, R. M., 1217F 

Roche, O., 324, 390 

Rocke, D. M., 1625T 

Rockett, K., 2157W 

Rockwood, S., 983F* 

Roda, R. H., 2470T 

Roddy, T. P., 1605T 

Rodegher, M., 624T, 2095T 

Roden, D., 806F, 1602T, 

3622W 

Roden, D. M., 247, 618T, 

647T, 1312F, 1345F 

Roden, M., 275 

Rodenburg, R., 672T 

Rodgers, L., 2587T 

Rødningen, O., 3096F 

Rodolico, C., 1776W 

Rodrgio, A., 3326W 

Rodrigues, A. L., 2814F 

Rodrigues, M., 1119W, 

3562W 

Rodrigues, M. R., 3325F 

Rodrigues Jr., V., 1593T 

Rodrigues-Peres, R. M., 

1033T* 

Rodriguez, A., 1048T, 

1049F*, 1432F, 2336F, 

2337W 

Rodriguez, D., 522W, 

3708W 

Rodriguez, E., 1939T, 

2226W 

Rodríguez, E., 1942T 

Rodriguez, M., 2495F, 

2660F 

Rodriguez, M. H., 3020T 

Rodriguez, S., 1626T, 

2427W 

Rodriguez, S. P., 926T 

Rodriguez de Alba Freiria, 

M., 1874F 

Rodriguez-Fernandez, I. A., 

361 

Rodriguez-Flores, J. L., 

2933T, 3380W, 3399W* 

Rodriguez-Florez, J. L., 

3315T 

Rodriguez-Revenga, L., 

2624F, 2630F*, 3217W 

Rodríguez-Santiago, B., 

3208F* 

Rodriquez, C., 3290W 

Roe, A., 3022T 

Roe, D., 1087T 

Roe, G., 3557F 

Roeder, K., 268, 1433W, 

1520W, 2560T, 2577W 

Roelens, F., 423F

Roenspie, S., 2632T 

Roepman, R., 216 

Roethlisberger, B., 3044F 

Roetzer, K., 2570F 

Roewer, L., 3364F, 3402T* 

Rogaeva, E., 2428T 

Rogan, P. K., 3672W* 

Rogatto, S. R., 1217F 

Roger, J., 827F 

Roger, J. E., 830F* 

Rogério, F., 514W 

Rogers, C., 3185W 

Rogers, J., 595F, 2413T 

Rogers, K., 3150F 

Rogers, R. C., 2772F, 3052F 

Roh, S., 2117F 

Rohde, K., 1361W 

Rohena, L., 3046F 

ROHgen, 2366F 

Rohlfs, R. V., 182*, 1573F 

Rohrer, M. D., 529F, 2188T 

Rojas, J., 2365T 

Rojas, J. D., 2990T 

Rojas, M., 1851F 

Rojas, X., 3115W 

Rojas-Martínez, A., 1030T 

Rojas Martínez, J., 3077W* 

Rojo-Contreras, J., 2363F 

Rokas, A., 3275W 

Rolfs, A., 704T 

Rolinski, B., 782W 

Rollins, B., 2459F 

Roma, C., 1060T 

Roma, G., 1237T 

Romalho, A. S., 1731W 

Roman, S., 1237T 

Roman, T. S., 1627T* 

Romana, S., 915W 

Romanelli, V., 3499T 

Romano, A., 1949F* 

Romano, C., 100 

Romano, L., 401, 556W, 

561F 

Romano-Palumbo, L., 415F 

Romanos, J., 155, 1330F* 

Romano-Silva, M., 2385W*, 

2404T 

Romeo, M., 624T 

Romeo, S., 427F, 1271F* 

Romero, A., 3064F* 

Romero, F. E. P., 3039W 

Romero, J. A., 3708W* 

Romero, V., 2660F 

Romero-Gallo, J., 3388F 

Romigh, T., 1144T 

Romitti, P., 1564F 

Romitti, P. A., 2151W, 

3070F 

Romm, J., 1448W, 2114F, 

2139W*, 2170T, 3704W, 

3716W, 3733F 

Romm, J. M., 46, 1452T 

Rommens, J., 2953W 

Rommens, J. M., 1322W, 

1731W, 2905W 

Ronaghi, M., 596W, 1167W, 

3695F, 3710W 

Ronald, A., 3487T 

Roncarolo, M.-G., 

Session 23 


Ron El, R., 3002T 

Ronemus, M., 1600T, 2587T 

Ronen, R., 3307F* 

Roney, E., 63 

Rønning, V., 921W 

Ronninger, M., 1981T, 

2103W 

Ronowicz, A., 434W 

Rook, M. B., 217 

Roomere, H., 1140W 

Rooryck, C., 473F 

Roos, F., 3685F*, 3709F, 

3729F 

Root, H., 1050W* 

Rope, A. F., 3220F 

Ropers, H. H., 2732T 

Röpke, A., 2595W 

Rosa, F., 1153T, 1712T 

Rosa, R. L., 2220W 

Rosana, K. M., 2223W 

Rosand, J., 1689T 

Rosario, M., 979W, 1749W 

Rosati, G., 157 

Roscioli, T., 214*, 298, 

2151W, 3070F 

Rose, C., 2143T 

Rose, J., 2541W 

Rose, J. W., 2397W 

Rose, L., 2056T 

Rose, L. M., 51 

Rose, R., 2566T 

Rose, R. J., 2022W 

Rosembloom, A. L., 2706F 

Rosen, A., 1330F 

Rosen, B., 1061F 

Rosenbaum, H., 748T*, 

773W 

Rosenbaum, J., 2587T 

Rosenberg, C., 439F, 891W, 

903W, 919W, 961W 

Rosenberg, D. R., 3447T 

Rosenberg, N., 3357T 

Rosenberg, N. A., 1534F, 

3285T, 3351T 

Rosenberg, P., 1012T 

Rosenberg, P. S., 1378F 

Rosenberg, T., 363 

Rosenberg-Belmaker, L., 

334 

Rosenblatt, D., 719F* 

Rosenblatt, D. S., 673F, 

705F, 706T, 848F 

Rosenbloom, B., 768W, 

769W 

Rosenbloom, K., 3612W 

Rosenfeld, J., 66, 68, 98, 

870T, 2979T 

Rosenfeld, J. A., 41, 103, 

274*, 805F, 884T, 902T, 

1818F*, 2395T, 3055W, 

3101W 

Rosenfeld, R. G., 2706F 

Rosenman, K. D., 1915T 

Rosenstein, B., 1309F 

Rosenstiel, P., 515F, 567F, 

582W, 2103W, 2303F 

Rosenthal, E., 1021T 

Rosenthal, E. A., 1605T* 

Rosenthal, J., 1783W 

Rosenthal, S. L., 2521T* 


Roses, A., 2465F 

Roses, A. D., 637T, 1382W 

Rosinski, J., 242 

Ross, A., 217 

Ross, J., 2525F 

Ross, J. W., 2717T 

Ross, L. H., 773W 

Ross, M., 1291F, 3694W 

Ross, T., 494W, 1244F 

Ross-Adams, H., 1011W 

Rossello, F., 1273T 

Rosser, T., 2069F 

Rossi, A., 943W, 3190F 

Rossi, C., 2786T 

Rossi, M., 124, 2399F* 

Rossier, E., 3109W 

Rossman, M., 1915T 

Rostı, R. O., 3195W 

Roter, A. H., 972T 

Roth, F. P., 2660F 

Roth, J., 924T 

Roth, L. A., 158 

Roth, M. P., 2126F, 3073W 

Rothhammer, F., 3327T 

Röthlisberger, B., 3109W 

Rothman, N., 1012T, 1091F, 

1092W 

Rothschild, C., 1796W 

Rothschild, H., 1081T, 

1454W 

Rothwell, P. M., 1313W 

Rotig, A., 72, 325, 329 

Rötig, A., 699F, 782W 

Rotimi, C., 241, 1515T, 

1886F, 1959W, 3533F 

Rottbauer, W., 86, 1612T 

Rotter, J., 350 

Rotter, J. I., 130, 1445W, 

1661T, 1662T, 1916F, 

2080T, 2153F, 2210F, 

2337W 

Rotunno, M., 30, 1218W, 

1517W, 2191T* 

Rouault, A., 473F 

Rouault, T. A., Session 10 

Roubertie, A., 2536T 

Roughley, P., 3169W 

Rouhani, F., 3507T 

Rouleau, C., 77 

Rouleau, E., 1062W, 

1212W* 

Rouleau, G., 1480F, 1670T, 

1898F, 2306F, 2338T, 

2816T, 3268F 

Rouleau, G. A., 2342F, 

2402F, 2558F, 2591F, 

2692W, 2790F, 3401W 

Roulstone, S., 2164T 

Roume, J., 56, 3129W 

Rousseau, F., 1840F 

Rousseau, M., 5 

Roux, A. F., 2947W* 

Roux, AF., 1874F 

Roux, K. J., 2914W 

Rovelet-Lecrux, A., 345 

Rovin, B., 458W 

Rowan, D., 786W 

Rowe, M., 2347T 

Rowell, S., 96 

Rowland, R. R. R., 2717T 

Rowley, S. M., 1224W 

Rowsey, R., 250* 

Roy, A., 314 

Royce, T., 942T, 3710W 

Roy-Gagnon, M.-H., 1478W 

Roze, V., 2770W 

Rozel, C., 3170F 

Rozell, B., 2427W 

Rozen, S., 2328W, 2889F 

Rozenzhak, S., 395 

Rozet, J., 390* 

Rozet, J.-M., 324 

Rozowsky, J., 551F 

Ruan, M. Z. C., 795W* 

Ruark, E., 138*, 1211F 

Ruau, D., 2230T 

Rubel, M. A., 3251W 

Rubens, C. E., 74, 94 

Rubenstein, J. L. R., 407 

Rubenstein, K., 2549F 

Rubenstein, L. M., 261 

Rubenstein, R., 2579F 

Rubicz, R., 1406W* 

Rubin, E. M., 4, 407 

Rubin, M. A., 1100F 

Rubini, M., 2002T 

Rubinstein, W., 3582W 

Rubinstein, W. S., 1762W*, 

3625F 

Ruchirawat, M., 3570W 

Ruczinksi, I., 350 

Ruczinski, I., 1076F, 1472W, 

1512T, 1558F, 1900T, 

2043W, 3609F* 

Rudaitis, V., 1208F 

Rudan, I., 1383T, 2366F 

Rudan, P., 1660T 

Rudd, D., 422W, 2493W* 

Rudd, M. K., 66, 338, 938T 

Ruden, M., 1009T, 2014T 

Rudenskaja, G., 2930T 

Ruderfer, D., 1325W 

Ruderfer, D. M., 2512T 

Rudge, S., 33 

Rudnev, D., 3582W 

Rudnicki, D. D., 2644T 

Rudser, K., 714T 

Rudy, G., 3579F* 

Rueda, L., 3490T 

Rueedi, R., 1281T* 

Ruef, B. J., 2725W 

Ruff, D., 1209W, 1246T, 

3278W, 3714W 

Ruffini, E., 1153T 

Ruggiero, L., 1776W 

Rugo, H., 1965W 

Ruhe, A. L., 2517W 

Ruigrok, Y. M., 87 

Ruivenkamp, C., 2701W, 

3650W 

Ruiz, N., 3121W 

Ruiz, R. G., 926T 

Ruíz-Flores, P., 1030T 

Ruiz-Linares, A., 1480F, 

3327T, 3360T, 3380W 

Ruiz-Ortiz, L., 2272T 

Ruiz-Pallares, N., 3166F 

Ruiz-Rodriguez, C. T., 

3254W 

Rukova, B., 3477T*, 3481T 



Rukova, B. B., 923W 

Rule, J., 3602W 

Rummel, S., 1002W, 1780W* 

Rump, A., 1236W, 2595W, 

3224F* 

Rundek, T., 1635T, 1638T 

Runyon, S., 2322W 

Runz, H., 1630T* 

Ruparel, K., 2514W 

Rupchock, A., 1786W*, 

1787W, 1853F 

Rupert, J. L., 1760W 

Rüschendorf, F., 2102F 

Russel, R., 1011W 

Russell, A., 1770W, 3602W* 

Russell, J. A., 1632T 

Russell, J. F., 2779W* 

Russell, M. B., 2804T 

Russell, M. L., 1186T 

Russin, J., 3415T 

Russo, A., 1153T, 1712T* 

Russo, A. D., 2424W, 2626T 

Rustin, P., 3241W 

Rusu, C., 124 

Rusyn, I., 368 

Ruth, B., 2904F, 3590W 

Rüther, U., 3524T 

Rutherford, N. J., 2639F 

Rutledge, D. N., 3408T 

Rutsch, F., 2759T* 

Rutschow, D., 645T 

Ruvolo, M., 975W* 

Ruzzo, E., 53 

Ruzzo, E. K., 203*, 2455T, 

2875W 

Ryan, A. W., 2160W, 2283W 

Ryan, C., 1856F 

Ryan, K., 602T 

Ryan, M., 2143T, 2742F 

Rybicki, B. A., 1250F, 1895F, 

2202W 

Ryckman, K., 1882T, 3537F 

Ryckman, K. K., 1344T* 

Ryder, E., 105 

Ryder, M., 1021T 

Rykiel, G., 240 

Rynes, E., 402 

Ryten, M., 374, 564W 

Rytkönen, K. M., 2462F 

Ryu, D., 3418T 

Ryu, E., 1351F* 

Ryu, H., 2437T, 3008T 

Ryu, M., 3461T 

Ryvkin, M., 1714T 

Rzadzinska, A. K., 1 

Rzhetskaya, M., 3323W 

S 

Sá, J., 1778W, 2755W, 3019T 

Sá, M. J. N., 3122F* 

Saad, A., 944T, 1751W, 

2744T 

Saada, N., 314, 1735W, 

1742W, 1757W, 1761W 

Saadi, A., 2808F 

Saadi, I., 2265W, 2670F 

Sääf, A., 1939T 

Saag, M., 3079W 


Saal, H. M., 3194F 

Saarela, J., 2134T, 2350T, 

2888T 

Saavalainen, P., 2023T, 

2177F 

Saba, B., 1593T 

Sabatelli, M., 2611T 

Sabater-Lleal, M., 1651T 

Sabatti, C., 421F*, 431F, 

3342T, 3383W 

Sabbaghian, N., 1065W, 

1262F 

Saberi, A. H., 679F, 2714T 

Sabeti, P., Session 80 

Sabo, A., 3, 648T, 3597F 

Sabolic, V., 2777T 

Saboohi, S., 3083W 

Sabourin, J.-C., 32 

Sabova, L., 849F 

Sabrautzki, S., 2922F 

Sacaglia, F., 898T 

Sacco, R., 1638T 

Sacco, R. L., 1635T 

Saccone, N., 2114F, 2650T 

Saccone, N. L., 2170T 

Sacerdote, C., 1712T 

Sachs, N., 2848W 

Sacks, G., 2993T* 

Sacks, S., 1470T, 2260T 

Sacks, S. H., 2082W 

Sadan, S., 660T 

Sadasivam, M. N., 2988T 

Sadee, W., 609T 

Sadeghin, T., 239 

Sadeghpour, A., 3 

Sadetzki, S., 783W, 1303F 

Sadia, S., 2959W 

Sadighi Akha, E., 218, 

2939T 

Sadim, M., 1292W 

Sadler, B., 2650T* 

Sadler, M., 96 

Sadowski, H., 3649F 

Saeb, F., 2976T 

Saed, S., 2756T 

Saeed, S. R., 2302T 

Saenen, J., 1617T 

Saenz, M., 3133W 

Saez, M., 794W 

Safatle, H. P. N., 903W, 

961W 

Safavi, S., 1024T* 

Saffery, R., 3484T 

Saffrey, P., 366, 3663F 

Safina, N. P., 366 

Safra, N., 2778F 

Saggar, A., 1675T 

Saggar, A. K., 2896W 

Saghbini, M., 3649F 

Sagreiya, H., 646T 

Sahin, A., 2979T 

Sahin, F. I., 594W, 1013F, 

3003T, 3243W*, 3424T, 

3426T 

Sahlin, E., 3245W 

Sahoo, T., 876T 

Saiag, P., 1062W 

Sai Babu, M., 224 

Sailani, M. R., 84*, 3431T 

Sailani, S. R., 67 

Saillour, V., 31, 394, 1207T, 

1215W, 3268F 

Saini, S., 1890W, 2733F, 

2735T* 

Saip, A., 2098T 

Saip, S., 2450F 

Saisanit, C., 242 

Saisanit, S., 3580W* 

Saith, S., 2465F 

Saito, K., 2963T 

Saito, M., 2588F 

Saito, T., 3051W 

Saito, T. L., 2569T 

Saitoh, S., 2822T*, 3056F 

Saitsu, H., 1290T, 2822T, 

3136F* 

Saitta, S., 65*, 1721W, 

3038F 

Sajan, S., 2389T 

Saji, T., 1631T 

Sajuthi, S., 3371W 

Sakabe, J., 2911W 

Sakaguchi, M., 558W, 559F, 

598W, 599F 

Sakaguti, M., 548W 

Sakai, S., 2440T 

Sakamoto, L. H. T., 1202F 

Sakamoto, M., 1147T 

Sakiyama, Y., 2418W, 

2601W 

Sako, W., 52 

Sakoda, L., 230, 2513F 

Sakoda, L. C., 2140T* 

Sakowski, L., 2664F 

Sakurada, Y., 1980W 

Sakurai, Y., 663F 

Sala, A., 3364F, 3402T 

Sala, N., 987W 

Salako, B., 1959W 

Salam, M. T., 2168F 

Salama, M., 3637F 

Salama, M. E., 3297T 

Salamanca-Gomez, F. A., 

1168T 

Salari, K., Session 28 

Salarini, D. Z., 2642F 

Salas, C., 872T, 1141T, 

3040F* 

Salas, E., 1111T, 1127F, 

1128W 

Salas-Labadía, C., 1131W 

Salazar, A. M., 1049F 

Salazar, D., 712T 

Salazar-Dávalos, I. M., 

3187W, 3188F 

Salazar-Páramo, M., 2363F 

Salazar-Riojas, R., 1030T 

Salbert, B. A., 1759W 

Sale, M., 178, 1971W 

Sale, M. M., 123, 1662T, 

3371W 

Saleh, M., 649T 

Saleheen, D., 115 

Saleh-Gohari, N., 2787F, 

2832F 

Salehi, Z., 3083W 

Salehi-Ashtiani, K., 2660F 

Salehzade, F., 2856F 

Salek, R., 1281T 

Salem, R. M., 23*, 2307W 

Salem, S., 2971T 

Salerno, B., 2078F 

Saletore, Y., 376 

Salgado, M., 1977W 

Salhi, A., 129, 1949F 

Salhi, H., 77 

Salhi, N., 1268F 

Salhi, S., 325* 

Salido, E., 981W 

Salie, M., 2217W* 

Salifoglu, H., 590W* 

Saligan, L., 3485T 

Salih, M., 324, 2997T 

Salimzadeh, L., 1143W, 

1739W* 

Salit, J., 2933T, 3399W 

Salit, M., 3647F 

Sallinen, S.-L., 992F 

Salloum, A., 3349F 

Salo, P., 1253F*, 2175W 

Salomaa, V., 656T, 1709T, 

1835W, 2110T, 2116T, 

2132F, 2173T, 2462F 

Salomão, H., 870T, 2289W*, 

3055W 

Salomons, G. S., 681F 

Salonen, R., 897W 

Salonga, E. G., 2975T 

Salvarinova, R., 750T 

Salvatore, J. E., 2022W 

Salvetat, N., 2685F 

Salviati, L., 2909T 

Salvoro, C., 1732W 

Sam, M., 1256F 

Samango-Sprouse, C., 239* 

Samani, N. J., 115, 1659T, 

2035T, 2175W, 3453T 

Samarov, D., 3647F 

Sambrook, J. G., 1604T 

Sambyal, V., 1703T 

Sammeth, M., 567F, 582W 

Samocha, K. E., 1523W* 

Samonigg, H., 1115F 

Sampaio, M., 1593T 

Sampath, P., 2312F 

Sample, M., 3622W 

Sampson, B., 1591T 

Sampson, J., 1160F, 1306F 

Sampson, K., 2411F 

Sampson, M. G., 845F, 

3405W* 

Samuel, J., 978T 

Samuels, D. C., 72, 3275W 

Samuels, M. E., 2790F 

Samuels, M.-E., 2692W, 

2945T 

Sanabria, D., 3225W 

Sanada, H., 245 

Sanapareddy, N., 242 

Sanchez, G., 2311T 

Sanchez, R. L., 3175W* 

Sanchez, S., 956T, 2055W 

Sánchez, S., 875W, 960T*, 

976T 

Sánchez-García, F., 2296T 

Sanchez-Huerta, E., 3311W 

Sanchez-Lara, P. A., 300, 

2151W 

Sánchez-López, J. Y., 

2363F

Sánchez-Machín, I., 2296T 

Sánchez-Palacios, A., 2296T 

Sand, S. R., 1071W 

Sanders, A., 3373F 

Sanders, A. R., 1282F, 

1957T*, 2576F 

Sanders, D. N., 2805F 

Sanders, J. L., 1920W*, 

2040W 

Sanders, S., 13, 553F, 

1433W, 2605T 

Sanders, S. J., 2478W 

Sanders, T. N., 1822F 

Sandford, A. J., 1465F 

Sandford, R. N., 153 

Sandholm, N., 2307W 

Sandholt, C. H., 2317T, 

2347T 

Sandhu, M., 117 

Sandhu, M. S., 1507F 

Sandi, C., 761W* 

Sandi, M., 761W 

Sandin, S., 1707T 

Sandling, J. K., 44, 3441T 

Sandmann, H., 3528W 

Sandoval, K., 3380W 

Sandoval, L., 682T 

Sandoval Mendoza, K., 

2033F 

Sandstrom, R., 255 

Sandulache, V., 1120T 

Sanger, W. G., 968T 

Sanghera, D., 474W 

Sanghera, D. K., 1933T 

Sanghi, D., 764W, 1287T, 

1288F, 1294F*, 1883F 

Sangkuhl, K., 633T, 635T 

Sanguansermsri, S., 3319F 

Sanidad, M. A., 945W 

Sankararaman, S., 3372T*, 

3407W 

Sanlaville, D., 944T, 3117W 

San Luciano, M., 2801T 

San Martin, W. B., 926T 

Sanna, S., Session 27, 110, 

113, 157, 177, 186, 547F, 

1391W, 1451W, 1516F, 

2001W, 2198F, 2329T, 

3664W 

Sanna-Cherchi, S., 845F* 

San Nicolas, H., 2627F 

Sansbury, F. H., 2704W* 

Sanseau, P., 649T 

Santago, Y., 255 

Santana, J., 2300F 

Santangelo, S., 352 

Santani, A. B., 2904F* 

Santaniello, A., 2113T 

Sante, T., 423F 

Santen, G. W. E., 55 

Santiago, K. M., 1217F 

Santibanez, J., 2934F 

Santibanez-Koref, M., 751F 

Santillan, D. A., 74, 94 

Santillan, M. K., 74, 94 

Santoni, F., 84, 85, 2877F, 

2937F, 3431T 

Santoro, F., 1949F 

Santoro, L., 1776W 

Santoro, M., 2464T* 


Santoro, M. L., 2533T, 

2534F 

Santoro, S., 1847W* 

Santos, D., 2736F* 

Santos, E. J. M., 3292F 

Santos, F., 3377W 

Santos, J., 492W 

Santos, J. C., 1187F, 3502T* 

Santos, L. C., 1132T* 

Santos, M. M., 2085W 

Santos, M. N. N., 2718F 

Santos, N., 3364F, 3402T 

Santos, P. A. C., 961W* 

Santos, P. C. J. L., 636T* 

Santos, R., 2417F, 2631W, 

3362W 

Santos, R. O., 2394W* 

Santos, S., 2642F, 3364F, 

3402T 

Santos, S. A., 941W 

Santos, S. C. L., 2596T* 

Santos, S. E., 1629T 

Santos da Cunha, B., 131 

Santos Filho, A. F., 2534F 

Sapkota, Y., 1297F* 

Sapp, J. C., 33, 674T 

Saraceni, C., 2915T 

Saraga, M., 845F 

Saraidaridis, J., 3703F 

Saraiva, J., 2755W, 3019T* 

Saraiva-Pereira, M. L., 

2424W, 2626T, 2642F 

Sarantaus, L., 982T 

Sarasin, A., 1496W 

Saraswathy, R., 929W* 

Sarca, G. J., 2954T 

Sarda, P., 857W, 936T, 

2386T*, 2729T, 3047W, 

3121W, 3166F 

SardiNIA Project, 3664W 

Sargan, D. R., 1105T 

Sariadaridis, J., 3656W 

Sarian, L. O. Z., 1033T 

Sarin, A., 1308T 

Sarin, A.-P., 119, 2076W, 

2137T, 2173T 

Sarkar Roy, N., 3343F 

Sarmady, M., 2904F 

Sarmiento, M., 951W 

Sarnowski, C., 1361W*, 

2079W 

Sarrel, K., 998F, 999W, 

1159T 

Sarroza, D., 1759W 

Sarto, E., 2764W, 2781F 

Sarto, G. E., 2020T 

Sartor, M. A., 34 

Sartor, O., 1040F 

Sarukhanov, A., 838F, 

2857W 

Sasada, T., 2380T 

Sasago, K., 1631T 

Sasaki, H., 2697F 

Sasaki, M., 1697T 

Sasaki, R., 1730W, 2559W 

Sasaki, T., 2370W, 2496W, 

2652W, 2911W 

Sasarman, F., 2771T 

Sasikala, K., 1044W 

Sasner, M., 983F 


Sass, J. O., 737F 

Sassi, C., 2611T 

Sasson, A., 2904F 

Satake, W., 2619W* 

Sathanoori, M., 904T 

Sato, D., 2575T, 2620T 

Sato, M., 1830F 

Sato, N., 2371T, 2507F 

Sato, R., 2129F 

Sato, Y., 1631T, 1722W*, 

3337F* 

Satoh, F., 1321F 

Satta, S., 2001W 

Sattar, N., 1626T 

Satten, G. A., 1349W* 

Satterthwaite, T., 2514W 

Saugier-Veber, P., 3117W 

Saunders, A. M., 637T 

Saunders, C. J., 366*, 

2793F, 2894T 

Saunders, E., 205, 1011W, 

1109F 

Saunders, P., 1729W, 

3680W 

Saunders, P. C., 3640W 

Saunders-Pullman, R., 

2801T 

Saunier, S., 324, 403 

Saute, J., 2609F 

Saute, J. A., 2626T* 

Saute, J. A. M., 2424W 

Sauthier, P., 2842W 

Savad, S., 1169F, 2987T 

Savage, D. B., 33, 45 

Savage, M., 3018T 

Savage, S. A., 1064F, 1196F* 

Savage, S. K., 1799W, 

1836F, 1843W* 

Saville, B., 247 

Savio, A., 3478T* 

Savitzki, D., 199 

Saw, S. M., 2094W 

Saw, W. Y., 3284W* 

Sawa, A., 2458T, 2461T 

Sawada, T., 1984T 

Sawai, H., 2130W 

Sawyer, S. L., 3141W* 

Saxena, A., 2353T 

Saxena, R., 1720W, 1988F 

Saydam, G., 1164W, 1178F 

Sayer, J. A., 2676F 

Saykin, A. J., 2511W, 2531F 

Sbardellati, A., 823F 

Sboner, A., 2444F 

Scafe, C., 3670W, 3717F 

Scaglia, F., 163, 759W, 

2942T 

Scaletsky, I. C. A., 1187F 

Scalf, M., 1269W 

Scambler, P., 216 

Scambler, P. J., 2955F 

Scanlan, N. L., 1138T 

Scaparo, R. M., 941W 

Scarano, G., 3129W 

Scaroni, C., 2708T 

Scarpini, E., 2095T 

Scarselli, G., 3114F 

Scelo, G., 1012T 

Schaaf, C., 759W 

Schaaf, C. P., 2403W 

Schaafsma, G. C. P., 3611F 

Schaarschmidt, H., 2102F 

Schachar, R. J., 2499W 

Schacherer, C., 1291F 

Schackert, G., 1236W 

Schadt, E., 583F, 1621T, 

3724W 

Schadt, E. E., 1624T, 

2220W 

Schaefer, A. S., 2058W* 

Schaefer, C., 96*, 112, 118, 

230, 421F, 620T, 1289W, 

1301W, 1414F, 1455T, 

2140T, 2513F, 3342T, 

3383W 

Schaefer, E., 2887W 

Schaefer, M., 36 

Schaeffer, P., 2642F 

Schafer, C. M., 268* 

Schäfer, Z., 86 

Schaffer, A. A., 1958F* 

Schaffer, L. G., 805F 

Schaibley, V. M., 476W* 

Schaid, D., 28, 1001F, 

1214F 

Schaid, D. J., 986F, 1449T*, 

1497T, 3564W 

Schalkwyk, L., 3471T, 

3476T 

Schalkwyk, L. C., 3487T 

Schanen, N. C., 2783T, 

3119W 

Schanze, I., 2666T 

Schara, U., 2681T 

Scharer, C., 3310F 

Scharer, G., 451F* 

Scharer, G. H., 2884W 

Scharer, O. D., 2696T 

Scharf, J., 1480F 

Scharfe, C., 3691F 

Scharpf, R. B., 3609F 

Scharschmidt, B., 662T 

Scharschmidt, B. F., 774W 

Schatz, M. C., 2587T 

Schaub, F. X., 1162T 

Schauer, S., 1236W 

Schaumberg, D., 385 

Schaumberg, D. A., 1305T 

Schawb, M., 3362W 

Schecter, S. C., 816F* 

Scheel, M., 314, 1735W, 

1742W, 1757W, 1761W 

Scheet, P., 1041W*, 1258T, 

1542T 

Scheetz, T. E., 60 

Scheffer, H., 97, 243, 621T, 

1734W, 1749W 

Scheffer, I. E., 203, 2741T, 

2897T, 3228F 

Schein, J., 375 

Scheinfeldt, L., 3338W 

Scheinfeldt, L. B., 3303T* 

Scheinhardt, M. O., 1669T 

Schekman, R., Session 26 

Schell, M., 86 

Schellenberg, G., 343, 

1476T, 1520W, 1571W, 

2498F 

Schellenberg, G. D., 342, 

344, 2316W, 2577W 



Schenck, A., 2595W, 2666T 

Schendel, D., 463F 

Schepers, D., 79, 80 

Scherag, A., 108, 2090F 

Scherer, S., 98, 1688T, 

2525F 

Scherer, S. E., 60, 244 

Scherer, S. W., 175, 460W, 

2570F, 2575T, 2617T, 

2620T, 2932W, 3086F, 

3095W, 3456T 

Scheuerle, A., 1761W 

Schiettecatte, F., 227 

Schieve, L., 463F 

Schiffman, J., 2982T 

Schiffman, R., 2786T 

Schiffmann, R., 772W, 

1684T* 

Schildkraut, J., 1061F 

Schildkraut, J. M., 1156T 

Schilhabel, M., 3224F 

Schillert, A., 200, 275, 

1443T, 1669T 

Schimpf-Linzenbold, S., 

3126F 

Schindeler, K., 3143W 

Schlagenhauf, U., 2058W 

Schlegel, P. N., 2982T 

Schlesinger, D., 919W, 

1727W 

Schlessinger, D., 113, 177, 

276, 547F, 847F, 1391W, 

1516F, 2001W, 2198F 

Schleutker, J., 28, 992F, 

995F, 997T, 1000T, 

1001F, 1006T, 1214F, 

1302T 

Schliekelman, P., 2206T* 

Schlitt, T., 1470T, 2804T 

Schloff, D., 885W 

Schmahmann, J. D., 326 

Schmid, B., 2103W 

Schmidlen, T. J., 632T 

Schmidt, A., 200 

Schmidt, B., 1965W 

Schmidt, C., 2135F 

Schmidt, E., 2427W 

Schmidt, E. M., 117 

Schmidt, J., 493F*, 1582F, 

2786T 

Schmidt, J. L., 2452T* 

Schmidt, M., 1544W*, 

2614T 

Schmidt, M. A., 9 

Schmidt, M. K., 206, 1117T, 

1150T 

Schmidtke, J., 1763W*, 

1868F, 1877F 

Schmidts, M., 216*, 809F 

Schmitt, B., 675F 

Schmitt, C. A., 2222F* 

Schmitt, C. P., 231 

Schmitz, C., 3449T 

Schmitz, K., 2811F, 3219W 

Schmitz-Abe, K., 8 

Schmitz-Abe, K. E., 452W* 

Schnabel, R. B., 1669T 

Schnabel, R. D., 2847F 

Schned, A., 1091F 

Schned, A. R., 1092W 


Schneider, A., 770W, 810F, 

857W, 936T, 2386T, 

3004T, 3121W, 3166F, 

3179W* 

Schneider, B., 1098W 

Schneider, B. G., 3388F 

Schneider, E., 3266W 

Schneider, J. A., 3417T, 

3450T 

Schneider, K. U., 1612T 

Schneider, S., 1119W 

Schneider, V., 464W 

Schneiderat, P., 2961F 

Schnetz-Boutaud, N., 15, 

1286W, 1316W, 1377T, 

1671T, 1713T 

Schnizel, A., 3240F 

Schnutgen, F., 825F 

Schoenberger, J., 1021T 

Schoenmaker, N., 2701W 

Schoenwolf, G. C., 828F 

Schofield, P., 198 

Schonberg, S., 953W 

Schoolcraft, W. B., 851F, 

2968T 

Schoonderwoerd, K., 708T 

Schorderet, D. F., 854F 

Schork, N. J., 24, 146, 

1319W, 1839W, 2274W, 

3332W 

Schormair, B., 2567F*, 

2568W 

Schorn, M., 3717F 

Schorry, E., 3177W* 

Schoser, B., 2944W 

Schoumans, J., 1035W 

Schrader, B. J., 1714T 

Schrader, K., 999W, 1841W 

Schrader, K. A., 998F*, 1159T 

Schraders, M., 58, 214 

Schrauwen, I., 59*, 2104T 

Schreiber, E., 3684W 

Schreiber, S., 200, 515F, 

567F, 580W, 582W, 

1942T, 1943F, 2058W, 

2103W, 2295W, 2303F, 

2314T, 2315F, 2368T 

Schreml, J., 236, 3214F* 

Schrock, E., 1236W*, 3224F 

Schrodi, S., 2297F, 3287W, 

3326W 

Schroeder, C., 1200W, 

1233W* 

Schroeder, D., 3479T* 

Schroeder, J., 3671F 

Schroer, R. J., 2826F 

Schroyer, R., 745F 

Schu, M., 385, 2563T 

Schubert, C. R., 2613W, 

2928F 

Schuberth, C., 1630T 

Schuck, R. N., 606T 

Schuckit, M., 2582F 

Schuele, B., 803W* 

Schuemann, B., 622T 

Schuh, A., 133 

Schuh, A. F. S., 2424W, 

2626T 

Schüle, R., 2820F, 2930T 

Schülke, M., 699F 

Schuller-Faccini, L., 3031T 

Schully, S. D., 1845W 

Schulte, E. C., 2568W* 

Schulte-Körne, G., 1976F 

Schultz, E. S., 2167T 

Schultz, K., 1589T 

Schultz, K. A., 132 

Schultz, R. A., 3101W 

Schultze, J., 2416T 

Schulz, B., 129 

Schulze, A., 675F 

Schumacher, F., 205, 213 

Schumacher, F. R., 1148F 

Schumacher, J., 1976F, 

2088W, 2557T 

Schuman, J. S., 2154W, 

2240F, 2263T 

Schunkert, H., 115, 3453T 

Schupf, N., 859W, 1920W 

Schurmann, C., 275, 1284T, 

2141F* 

Schürmann, M., 2103W 

Schürmann, P., 1117T 

Schurr, E., 1374T, 2003F 

Schurr, T., 3373F* 

Schurr, T. G., 3329W, 3377W 

Schuurs-Hoeijmakers, J. H. 

M., 100, 160, 672T 

Schwab, R. B., 1051T 

Schwab, S. G., 2407T 

Schwaderer, A., 458W 

Schwartz, A. G., 1454W 

Schwartz, C., 2566T, 

2806W, 3196F 

Schwartz, C. M., 3185W 

Schwartz, D. A., 3466T 

Schwartz, I. V. D., 696T 

Schwartz, J., 3469T 

Schwartz, P. J., 86 

Schwartz, R., 839F, 3376F 

Schwartz, S., 103, 949W* 

Schwartz, S. G., 2028W, 

2318F 

Schwartz, S. M., 213 

Schwartz, T., 1239W 

Schwartzentruber, J., 

160, 198, 701F, 2790F, 

2794W 

Schwarz, E., 686T 

Schwarzacher, T., 449F 

Schwarze, U., 1759W 

Schwarzmayr, T., 2595W 

Schwei, T., 3671F 

Schweiger, M., 3224F 

Schwender, H., 1335T*, 

1430W, 1472W, 3609F 

Schwenk, W. F., 718T 

Schwenn, M., 1091F, 

1092W 

Scionti, I., 1776W* 

Sciortino, S., 96, 112, 118, 

230*, 620T, 2140T, 2513F 

Sciurba, F. C., 129 

Scliar, M., 3325F 

Scofield, R. H., 529F, 1979F, 

2084F, 2188T 

Scolari, F., 845F 

Scollen, S., 503F, 2804T 

Scollon, S., 1798F* 

Scotet, V., 1728W 

Scott, A., 2325W 

Scott, A. F., 79, 1254W*, 

1472W, 1512T, 3609F 

Scott, C. E., 33 

Scott, C. R., 668T, 727F*, 

3281W 

Scott, D., 389, 432W 

Scott, D. A., 834F*, 839F, 

840F, 2678T 

Scott, H., 2685F 

Scott, J., 2974T 

Scott, J. A., 2157W 

Scott, J. K., 375 

Scott, J. N., 2800W 

Scott, K., 2135F 

Scott, L. J., 34, 46, 1389T 

Scott, M., 1566T 

Scott, R., 1686T, 2755W 

Scott, R. H., 1773W 

Scott, R. J., 916T, 2133W 

Scott, R. T., 2968T 

Scott, R. T., Jr., 2999T 

Scott, S. A., 652T, 958T, 

1777W, 3488T 

Scott, W., 489F, 492W 

Scott, W. K., Session 27, 

347, 1489F, 2028W, 

2318F*, 2378F, 2603F, 

3335W 

Scrivner, S., 3133W 

Scurr, I. J., 217 

Scutti, A., 2300F* 

Seal, R., 3651F 

Seal, S., 138, 1211F 

Sealy, I., 37 

Searby, C. C., 323, 404, 

2215T, 2671W 

Searle, S. M. J., 506W 

Sebat, J., 480W, 2576F, 

2660F 

Sebert, S., 1432F, 2162F 

Sebire, G., 2790F 

Sebire, N. J., 303 

Sebro, R., 279* 

Secolin, R., 514W, 2394W, 

2876T 

Sedaghati Khayat, B., 

1961F, 1962W, 2964F 

Sedaka, N. M., 2702T 

Sedel, F., 684T 

Sedova, M., 3717F 

Seebohm, G., 86 

Seeley, A. H., 313* 

Seeman, P., 2745F 

Sefiani, A., 708T, 2937F, 

3246F 

Segal, B., 2084F 

Segal, B. M., 529F, 2188T 

Segal, D. J., 1625T* 

Segal, H., 1313W 

Segal, M., 589F 

Segal, M. M., 3581F* 

Segel, R., 2447F* 

Segers, P., 2225F 

Segone, A. M., 1085F 

Segref, A., 105 

Segura-Puimedón, M., 

3084F 

Segurel, L., 285* 

Sehar, N., 2075F

Sehmi, J., 110 

Sehnert, A., 3021T 

Sehrawat, B. S., 1297F 

Seibler, P., 204 

Seidman, C., 1677T 

Seidman, J. G., 1677T 

Seifert, D., 3266W 

Seifert, M., 822F, 827F, 

3536W 

Seik Soon, K., 2496W 

Seipp, M. T., 495F* 

Seixas, S., 3306T 

Sekar, R. B., 305 

Seki, A., 1685T, 2911W 

Seki, Y., 724T 

Sekine, T., 3134F 

Sekowska, M., 44, 3441T 

Seldin, M. F., 2360F 

Self, M., 853F, 2300F 

Selhub, J., 123 

Selinski, S., 1335T 

Selkirk, C. G., 1225T* 

Selleck, S. B., 2491T 

Selleri, L., 365 

Sellers, M., 2411F 

Sellers, T., 1061F 

Sellers, T. A., 1156T 

Selmer, K., 3096F* 

Sels, J.-W., 1711T 

Selvi, N., 1025F* 

Semaka, A., 265* 

Semenza, G. L., 3297T 

Semina, E. V., 2903T 

Seminara, D., 28, 1214F 

Semple, R. K., 33, 45 

Semsarian, C., 1664T 

Sen, S., 158, 260 

Senac, J., 738T 

Sénac, J. S., 2683W* 

Senders, C., 2151W 

Senegaglia, A. C., 2475W 

Seneviratne, C., 2390F 

Sengstag, T., 2891T 

Sengupta, S., 117, 1429F* 

Senman, L., 3456T 

Sens, M. M., 1946F 

Senter, L., 1740W 

Seo, D., 1644T* 

Seo, E.-J., 964T 

Seo, J., 1248W, 1384F 

Seo, J. S., 467F, 1931F, 

3259F, 3463T 

Seo, M., 933W 

Seo, S., 233, 323*, 1267T, 

2215T, 2671W, 2690T 

Seok, J., 1112F 

Seok, S.-C., 2523W 

Seok, Y., 863W* 

Seoud, M., 2981T 

Seow, A., 1934F 

Separovic, E., 447F 

Sepe, R. M., 735F 

Seppala, E., 2213F 

Seppälä, I., 2120F 

Sepuri, N. B., 3630W 

Sequeira, A., 2459F 

Sequeiros, J., 1296T, 1964F, 

2736F, 2818W 

Sergi, C., 3060F*, 3071W 

Serin, A., 1201T 


Serjeant, G., 1906T 

Serra, C., 1091F 

Serra, D., 2062T 

Serra-Juhe, C., 84 

Serre, V., 127, 325, 329, 

390, 1607T 

Sertie, A. L., 2654F 

Service, S., 2222F, 2343W 

Servidei, S., 54 

Sesboué, R., 32 

Sese, J., 2550W, 3513T 

Seshadri, S., 123, 1592T, 

2528F 

Sessa, M., 71 

Sesta, M., 2766F 

Sestan, N., 2444F 

Setchell, K. D. R., 161 

Sethuraman, A., 3682W* 

Setia, S., 1447F 

Seto, A., 2381F 

Setoodeh, A., 2787F 

Settin, A., 1922F 

Severi, G., 205, 1148F, 

1214F 

Severin, E., 2954T*, 3005T, 

3009T, 3067W 

Sewry, C., 2812W 

Sexton, D. P., 314, 1735W, 

1757W, 1761W, 3576W 

Seyahi, E., 3475T 

Seyedhassani, S., 2976T* 

Seynaeve, C., 1788W 

Seyrantepe, V., 2669T* 

Sezerman, O. U., 2450F 

Sgardioli, I., 1865F 

Sgardioli, I. C., 959W 

Sha, Q., 1409W* 

Sha, S. J., 2639F 

Shaaban, S., 2928F 

Shabalin, A. A., 564W 

Shabbeer, J., 1714T 

Shachar, S. B., 63 

Shadravan, F., 3410T* 

Shafer, A., 3459T 

Shaffer, C. L., 3388F 

Shaffer, J., 22, 2034W 

Shaffer, J. R., 1464T, 1474F, 

2142W*, 2156F, 2178W 

Shaffer, L. G., 66, 68, 103, 

274, 884T, 902T, 934T, 

2395T, 3101W 

Shafiee, N. M., 2150F 

Shah, A. S., 3231W 

Shah, B., 346, 2537F 

Shah, E., 1009T, 2014T, 

2281T* 

Shah, K., 1591T, 1701T*, 

1863F* 

Shah, K. H., 130 

Shah, M., 3717F 

Shah, R., 1701T 

Shah, S., 998F, 999W*, 

1159T, 1841W 

Shah, S. H., 1444F, 1594T, 

1636T 

Shahak, E., 3202F 

Shahbazi, M., 3163W 

Shahbazi, M. S., 1096T* 

Shahid, H., 2072F 

Shahin, H., 2756T*, 2772F 


Shahmirzadi, L., 1844F* 

Shahram, F., 2150F 

Shaikh, R. S., 2959W 

Shaikh, T., 451F 

Shaikh, T. H., 819F, 2884W 

Shakir, K., 280 

Sham, P., 21 

Sham, P. C., 109, 1930T, 

2066F, 2494T, 2932W, 

3559F 

Shameer, K., 1312F* 

Shami, P., 3637F 

Shamloo, B., 3475T 

Shams, S., 440W 

Shamsi, M., 2967T* 

Shan, Y., 3300T 

Shanahan, K., 326 

Shang, J., 3168F, 3237W 

Shang, Q., 2419T 

Shankar, S., 745F, 772W, 

1679T 

Shanmugam, A., 2625W 

Shanmugham, A., 2579F 

Shannon, M., 1209W, 

1246T, 3278W, 3714W 

Shannon, N., 324 

Shannon, P., 2971T, 3013T, 

3075W 

Shao, D., 3625F 

Shao, H., 159 

Shao, X., 1414F, 1415W* 

Shao, Y., 1185W, 1309F, 

2078F, 3582W 

Shapero, M., Session 76, 

3730W* 

Shapira, I., 1133F* 

Shapiro, A., 1889F 

Shapiro, E., 714T, 715F, 

801W 

Shapiro, E. G., 785W 

Sharaha, U., 2756T 

Shariati, G., 2714T* 

Shariati, G. R., 679F 

Sharifi, R., 3201W* 

Sharififard, B., 2714T 

Sharma, H., 481F* 

Sharma, K., 13 

Sharma, K. L., 1188W* 

Sharma, M., 555F* 

Sharma, N., 2801T 

Sharma, N. K., 2011T 

Sharma, P., 918T* 

Sharma, R., 2353T* 

Sharma, R. K., 2353T 

Sharma, S., 221*, 811F*, 

1439W, 2844F*, 3678W 

Sharma, V. P., 218 

Sharp, A., 84, 3431T, 3516T* 

Sharp, A. J., 469F, 3488T 

Sharp, S. J., 1553W 

Shaw, C., 893W, 898T, 

952T, 2542T 

Shaw, C. A., 229, 430W, 

432W, 2189F 

Shaw, C. E., 348 

Shaw, D. W. W., 2530T 

Shaw, G., 75, 1589T 

Shaw, G. M., 1352W, 1885T 

Shaw, N. J., 2864T 

Shaw, P., 135 

Shaw, P. J., 348 

Shchelochkov, O., 165, 389, 

1882T, 2678T 

Shchelochkov, O. A., 840F, 

1344T 

Shchetynsky, K., 1981T* 

Shea, P., 2050T 

Shea, P. R., 2335T* 

Shearer, E., 60*, 2867T 

Shears, D., 217, 2939T 

Shechter, N., 783W 

Sheehan, P., 3484T 

Sheehan, S., 184* 

Sheehan, V., 2331W 

Sheehan, V. A., 648T* 

Sheets, K., 3 

Sheffer, I., 2542T 

Sheffield, J., 3395W 

Sheffield, V., 1588T, 2690T 

Sheffield, V. C., 323, 387, 

404, 2215T, 2671W, 

2738T, 2750T 

Sheikh, F., 1155W 

Shekar, M., 1183T, 1190F 

Shekari Khaniani, M., 779W 

Shekhtman, E., 3582W 

Sheldon, M., 2433W 

Shell, E., 493F 

Shelton, G. D., 2681T 

Shelton, J., 602T 

Shelton, S. E., 2413T 

Shen, C., 1249T 

Shen, C. L., 2985T 

Shen, E., 2444F 

Shen, H., 2053T, 2172W 

Shen, H. C., 210 

Shen, J., 159, 294, 876T, 

934T 

Shen, L., 230, 1289W, 

1301W, 1414F, 1455T, 

2140T, 2511W, 2513F*, 

2531F 

Shen, M., 1945T 

Shen, P., 3691F* 

Shen, R., 3695F, 3697F 

Shen, Y., 554W, 1255T*, 

1482T, 2606F, 2660F, 

2732T, 3627F 

Shendure, J., Session 72, 

Session 74, Session 81, 

26, 311, 1014W, 2337W, 

2789T, 2897T, 3721F 

Shendure, J. A., Session 72, 

10, 74, 94 

Shepard, P., 395 

Shephard, R. E., 1664T 

Shepherd, F. A., 1108T 

Shepherd, J., 1576F 

Shepherd, J. A., 812F 

Sheppard, B., 463F* 

Sher, K., 1566T 

Sherafat Kazemzadeh, R., 

2702T 

Sheridan, E., 214 

Sheridan, M. B., 935W* 

Sherman, M., 1117T 

Sherman, M. E., 1150T 

Sherman, S., 940T 

Sherman, S. L., 253, 

1349W, 2069F, 3042F 



Sherr, E., 196, 3198F 

Sherr, E. H., 299, 2389T 

Sherridan, E., 3173W 

Sherrill, J. B., 829F 

Sherry, S., 3582W*, 3592W, 

3625F 

Sherva, R., 2488T*, 2503T 

Sherwood, A., 530W 

Shete, S., 1298W, 1578T 

Sheth, F., 700T, 3400T 

Sheth, F. J., 911W*, 2803W 

Sheth, J., 700T, 911W, 3400T 

Sheth, J. J., 2731W, 2803W* 

Sheth, V., 1244F, 3717F 

Sheu, W., 1608T 

Sheu, W. H.-H., 1955F 

Shevah, O., 2706F 

Shevchenko, Y., 330 

Shevell, M. I., 2790F 

Shi, A., 532W 

Shi, B., 1472W 

Shi, H., 3317W 

Shi, J., 616T, 1154F, 1199F, 

3493T* 

Shi, L., 836F, 2151W, 3415T 

Shi, M., 551F, 1416T* 

Shi, Y., 159, 480W, 486W, 

503F, 2617T, 3595F 

Shianna, K., 53 

Shianna, K. V., 203, 2050T, 

2335T 

Shibata, A., 729F, 1574W, 

2472W, 2647T, 2747T, 

3634W* 

Shibata, H., 2400W 

Shibata, K., 1549F* 

Shibata, T., 396 

Shibuya, T., 396 

Shieh, J. T. C., 501F, 1687T, 

3247W 

Shield, J. P. H., 3494T 

Shiffman, S., 39 

Shigemizu, D., 2051F* 

Shigeta, R., 493F 

Shih, A., 2617T 

Shih, S., 1905W 

Shikishima, C., 3513T 

Shilon-Hadass, A., 660T 

Shim, S., 900T* 

Shima, J., 1190F 

Shimada, A., 3192F* 

Shimada, T., 1697T 

Shimbo, H., 2836W 

Shimizu, A., 2882T*, 2911W 

Shimizu, J., 2409W 

Shimizu, T., 663F 

Shimmin, L. C., 1932W 

Shimojima, K., 1290T, 

3102F 

Shimojo, N., 2294F 

Shimozato, K., 1574W, 

2747T 

Shin, C. S., 2053T 

Shin, D., 1590T* 

Shin, E., 908T*, 1590T, 

2834T 

Shin, H. D., 1975T 

Shin, J., 1248W, 2437T* 

Shin, J. Y., 3463T 

Shin, S.-Y., 44, 583F 


Shin, Y.-B., 1622T 

Shink, E., 1951T 

Shinka, T., 3337F 

Shinomiya, N., 663F 

Shinomura, Y., 2174F 

Shinya, K., 2507F 

Shiohama, A., 2911W 

Shiohara, T., 627T 

Shirai, T., 1815W 

Shiraishi, H., 2822T 

Shirakata, Y., 627T 

Shirakawa, O., 2380T 

Shirakihara, T., 396 

Shirazi, M., 957W, 3730W 

Shiri, R., 2120F 

Shirley, B., 3672W 

Shirley, M., 3374W 

Shirmardi, A., 2013W 

Shiroiwa, K., 2380T 

Shirota, R., 1277F 

Shirzad, H., 1143W, 1739W 

Shiu, C., 1557T 

Shiue, C., 413F* 

Shivatzki, S., 2914W 

Shmueli, D., 2447F 

Shmygelska, A., 483F*, 

3617F 

Shneebaum, N., 2447F 

Shoda, H., 1984T 

Shoedel, J., 509F 

Shoemark, A., 809F 

Shohat, M., 105, 3185W 

Shohet, J., 134 

Shomron, N., 2919F 

Shortreed, M., 1269W 

Shotelersuk, V., 709F, 

1944W*, 2006F, 2749W 

Shou, W., 616T*, 3493T 

Shoubridge, C., 2629T, 

2640W* 

Shoubridge, E. A., 2771T 

Shoukry, M., 407 

Shoval, Y., 199 

Shprintzen, R., 1494T 

Shrader, J., 711F 

Shrestha, D., 864T 

Shridhar, V., 1238F, 3451T 

Shriner, D., 241, 1515T, 

3412T, 3533F 

Shringarpure, S., 3605F 

Shringarpure, S. S., 3391W* 

Shriver, C. D., 1002W, 

1780W 

Shriver, M., 1850W, 2083T 

Shriver, M. D., 2223W*, 

3290W, 3318T, 3360T, 

3380W 

Shtir, C., 453F* 

Shu, Y., 1362T* 

Shugart, Y., 1527T 

Shugart, Y. Y., 1559W, 

3572W 

Shukla, A., 1232F 

Shukla, K. P., 2186F 

Shukla, N. K., 1278W 

Shukla, R., 918T 

Shukla, R. K., 3271F* 

Shuldiner, A., 249 

Shuldiner, A. R., 602T 

Shulman, J., 2488T 

Shuman, C., 320, 1872F, 

1873F 

Shungin, D., 1954T, 2123F, 

2147F 

Shvetsova, T., 1245W, 

3687F 

Shy, M., 1871F 

Shyong Tai, E., 2041T 

Siasi, E., 2980T* 

Sibigtroth, C., 784W 

Siciliano, G., 1776W 

Sicotte, H., 1247F 

Sidders, B., 503F 

Siddiqui, K., 3149W 

Siderowf, A., 2538W 

Sidore, C., 113, 157, 177*, 

186, 276, 1451W, 1516F, 

1568W, 2001W, 2198F, 

2329T, 3664W 

Sidow, A., 397* 

Sidransky, E., Session 10 

Sie, D., 494W 

Siebel, S., 1702T* 

Sieber, O., 1072T 

Sieberg, R., 1666T 

Siegbahn, A., 617T, 619T 

Siegel, P., 1182W 

Siegesmund, K., 200 

Siegfried, J. D., 1767W 

Siegler, I. C., 1594T, 2481W 

Siegmund, D., 3675F* 

Sierra, F. P., 926T 

Siervogel, R. M., 2146T 

Siffredi, V., 62 

Siffroi, J.-P., 2674W 

SIGMA Type 2 Diabetes 


Sigmon, D. F., 1229F 

Signorello, L. B., 2202W 

Sigurjonsson, S., 73 

Sik, A., 2767W 

Sikdar, N., 1097F* 

Sikela, J., 465F 

Sikela, J. M., Session 22, 

433F, 835F 

Sikela, M., 433F 

Sikka, N., 1644T 

Sikkema-Raddatz, B., 1619T 

Siklosi, K. R., 1731W* 

Sikora, M., 186* 

Sikron, F., 783W 

Silander, K., 2462F 

Silani, V., 2775F 

Silao, C. L. T., 707F* 

Silas, J. C., 2988T* 

Silberbach, M., 1743W 

Silberg, J. L., 2277W 

Siles, J., 728T 

Sill, H., 1115F 

Sillanpää, M. J., 1597T 

Sillé, F. C. M., 1104W*, 

2055W 

Sillence, D. O., 3167W 

Siltanen, S., 1000T* 

Silva, A. C. S., 1902W 

Silva, A. G., 891W 

Silva, C., 2193W 

Silva, E., 324, 390 

Silva, F., 2624F 

Silva, I. D. C. G., 1008W 

Silva, J., 913W, 2668W 

Silva, L., 1851F 

Silva, L. C. S., 2642F 

Silva, M. J., 2718F 

Silva, R. M., 1315F, 1936T 

Silva, W. A., Jr., 1037F, 

1038W, 2813T 

Silva, W. L., 2289W 

Silva-Zollezzi, I., 3255T 

Silveira, S., 1651T 

Silveira Lucas, L., 131 

Silver, D. L., 2455T 

Silverberg, M. S., 42, 1381F, 

2319W 

Silverman, D. T., 1091F, 

1092W 

Silverman, E. K., 1425T, 

2057F, 2249F, 2346W 

Silverman, I., 1642T, 3551F 

Silverman, W., 859W 

Silverstein, C., 1685T 

Silvestri, G., 385, 1305T, 

1779W, 1897T 

Sim, X., 169, 173*, 269, 

1510F 

Simanivanh, T., 953W 

Simarci, A., 3125W 

Simard, J., 207, 208, 1150T, 

2635T 

Simeonov, D., 2610W 

Simino, J., 1637T* 

Simioni, M., 959W, 1903T* 

Simkin, L., 2003F 

Simmons, L. E., 74, 94 

Simms, R. J., 2676F 

Simões, A. L., 3277F, 3280F 

Simões, B. P., 1045T 

Simões, R. T., 994T 

Simola, K. O. J., 897W 

Simon, A. J., 2691F 

Simon, D., 841F 

Simon, K., 2561F 

Simon, M., 127, 3213W 

Simon, M. S., 1003T 

Simon, T., 609T 

Simon, V., 3310F 

Simonelli, F., 2950W 

Simonic, I., 98, 3109W, 

3172F 

Simonson, M. A., 2239T* 

Simonson, T. S., 3297T, 

3378T 

Simons VIP Consortium, 

and 16p11.2 European 


Simosky, J. K., 772W 

Simpfendorfer, K. R., 306 

Simpson, A., 2211W 

Simpson, C. L., 1302T, 

1454W* 

Simpson, D., 1779W 

Simpson, M. A., 780W, 

2804T, 2896W, 2925F* 

Simpson, P., 1475W 

Sims, D. J., 1068W 

Sims, K., 1684T 

Sims, K. B., 326 

Simsir, A., 1106F 

Sincan, M., 359, 3543F 

Sinclair, E., 3454T

Sinclair, S., 750T 

Sindeaux, R. H. M., 2475W* 

Sindhi, M., 2075F 

Sing, C., 183 

Sing, C. F., 187 

Singer, A., 3048F, 3162F*, 

3174F 

Singer, C., 347, 2603F 

Singh, A. P., 3627F* 

Singh, D., 666T, 2737W* 

Singh, G., 3618W 

Singh, J., 1920W, 1921T* 

Singh, J. R., 2735T 

Singh, K., 1950W, 2154W, 

2240F, 2263T, 2700F 

Singh, K. E., 1071W 

Singh, L., 2988T 

Singh, L. N., 1696T 

Singh, N., 2967T 

Singh, R., 2988T, 3316F 

Singh, S., 2585F 

Singh, S. K., 481F 

Singh, S. M., 378 

Singh, V., 1134W* 

Singhi, P., 167 

Singleton, A. B., 564W, 

2148W, 2648F 

Sinha, G., 2663T 

Siniard, A. L., 3215W 

Sinicina, I., 86 

Sinicropi, D., 1198T 

Sinke, R. J., 1619T, 2886F 

Sin Lo, K. S., 2319W 

Sinnett, D., 31, 394, 1207T, 

1215W, 3268F 

Sinning, C. R., 1669T 

Sinnott, R., 2703F 

Sinnwell, J., 1247F 

Sinnwell, J. P., 1449T, 1497T 

Sinopoli, V., 2499W 

Sipeky, Cs., 3283F 

Sirén, I., 2110T 

Sirewanda, K., 3196F 

Siriwan, P., 1944W 

Siriwardena, K., 720T* 

Sirmaci, A., 57 

Sironi, M., 438W 

Sirotkin, K., 3582W, 3625F 

Siscovick, D., 350, 1346W, 

2210F, 2337W 

Sisk, R. A., 3212F 

Siskind, C., 1871F 

Sismani, C., 3017T 

Sistermans, E., 98, 494W, 

3200F 

Sisto, D., 2541W 

Sistonen, P., 2023T 

SISu Consortium, 2344T 

Sitaram, U., 931W 

Sitaraman, S., 732T, 745F 

Sites, E., 3177W 

Sitlani, C., 1346W, 1585T 

Siu, L., 135 

Siu, L. L., 1824F 

Siu, M., 3694W 

Siu, V. M., 1138T 

Siva, A., 2429F, 2450F 

Sivakumaran, T. A., 1764W* 

Sivapalaratnam, S., 1604T, 

1606T 


Sivaramakrishna 

Rachakonda, P., 29 

Sivils, K. M., 2284T 

Sivley, M., 2532W 

Sizer, E., 645T 

Sjödin, P., 3356W 

Sjöholm, K., 1271F 

Sjöstrand, C., 2804T 

Sjöström, L., 427F, 1271F 

Skalitzky, C., 3688W 

Skarnes, W. C., 2725W 

Skarpås, B., 3729F 

Skeie, J. M., 2750T 

Skibola, C., 3623F 

Skibola, C. F., 1104W, 

2055W 

Skinner, C., 2806W, 2826F, 

3185W 

Skinner, H., 1267T 

Skinner, M., 2220W 

Skipper, L., 497F 

Sklar, P., 290, 1325W, 

2487W, 2576F, 2577W, 

2618F 

Skoff, R., 2664F 

Skogstad, A., 2965W 

Skol, A. D., 2046W 

Skotheim, R. I., 213 

Skov, R. L., 1323T 

Skovbo, P., 2862F 

Skovbo, S., 1565W 

Skovby, F., 2765T 

Skupien, J., 2313W 

Skuse, D., 2383T 

Sladek, R., 176, 1513F, 

1923W, 2308T, 2339F 

Sladkova, J., 752T 

Slagboom, E., 2080T 

Slagboom, P. E., 1436W, 

2035T, 2175W 

Slager, S., 1150T 

Slama, A., 325 

Slate, N. G., 326 

Slater, A., 1491T 

Slavin, T., 3085W* 

Slavotinek, A., 810F, 869W, 

2926W*, 3162F 

Slawik, H., 2567F 

Slean, M., 2635T 

Slean, M. M., 2696T* 

Sleiman, P. M. A., 1996T, 

2121W, 2514W*, 2546F, 

2785W, 2892F 

Slepushkina, N., 1263W 

Slezer, R., 3688W 

Slifer, S., 2614T 

Slifer, S. H., 9, 2572T 

Slim, R., 2842W*, 2981T 

Sliwerska, E., 3368W 

Sload, J., 652T 

Sloan, C., 3612W 

Sloan, J., 721F, 738T 

Sloan, J. L., 664T*, 674T 

Sloper, L., 1663T 

Sloper, L. J., 3231W 

Slotta, D., 3582W 

Slovak, M. L., 945W 

Smagulova, F., 417F, 592W 

Smaldone, S., 815F* 

Small, G. W., 2637W 


Small, K., 583F* 

Small, K. S., 44, 3441T 

Smaoui, N., 330, 1676T, 

1765W* 

Smart, C., 210 

Smedby, K. E., 1934F, 

2055W 

Smedley, D. P., 2725W* 

Smeets, D. F. C. M., 955W 

Smeets, H., 708T*, 796W 

Smeets, H. J. M., 1711T, 

2448W, 2996T 

Smeitink, J. A. M., 672T 

Smets, K., 2820F 

Smiles, A. M., 2313W 

Smit, A. F. A., 195, 3270T 

Smit, M., 3200F 

Smith, A., 701F, 2794W 

Smith, A. C. M., 3080F 

Smith, A. J. P., 122* 

Smith, A. K., 1422T, 2384F, 

2483F, 3480T* 

Smith, A. V., 2275T 

Smith, B. N., 348* 

Smith, C., 374, 564W, 1538W 

Smith, C. D., 3213W 

Smith, C. L., 2675T 

Smith, C. T., 3349F 

Smith, D., 453F 

Smith, E. A., 2047T 

Smith, E. N., 395*, 1659T, 

2274W 

Smith, E. S., 1653T 

Smith, G., 671F, 3663F 

Smith, G. D., Session 21, 

560W, 1528F 

Smith, J., 93, 2740W 

Smith, J. D., 170, 244 

Smith, K., 568W, 2444F 

Smith, K. R., 2741T 

Smith, L. M., 1269W 

Smith, M. A. C., 1008W, 

1132T, 2533T, 2534F, 

3421T, 3503T 

Smith, M. W., 13 

Smith, N. L., 1408F 

Smith, R., 886T, 3471T, 

3636W 

Smith, R. A., 34 

Smith, R. J. H., 60, 419F, 

2301W, 2867T, 3228F 

Smith, R. L., 968T 

Smith, R. P., 246* 

Smith, S., 1186T 

Smith, S. C., 1661T 

Smith, S. M., 1537F* 

Smith, U., 1624T 

Smith, W., 774W* 

Smithson, S., 2896W 

Smithson, S. F., 217 

Smogorzewska, A., 999W 

Smolarek, T., 3177W 

Snegovskikh, V., 3030T 

Snell, Q. O., 3643F 

Snella, E. M., 2717T 

Snieder, H., 2282F 

Snijders, A. M., 984W 

Snipes, G., 777W 

Sniukiene, V., 745F, 772W 

Snopkowski, C., 2260T 

Snyder, D., 3644W 

Snyder, M., 425F, 525F, 

551F, 562W, 581F, 604T, 

1505W, 1601T, 2322W, 

3361F, 3368W, 3505T 

Snyder, M. P., 371, 416W, 

3313F, 3411W 

Snyder, M. W., 74, 94* 

So, E., 544W 

So, I., 2437T 

So, J., 2657F* 

So, M. T., 1930T, 2066F 

So, W., 2280W 

So, W. Y., 2279F 

Soares, F., 1151F, 3325F 

Soares, R. A. G., 636T 

Soares-Souza, G., 1119W 

Soares-Souza, G. B., 

3325F 

Soave, D., 2953W* 

Sobel, E. M., 38 

Soblet, J., 83*, 1611T 

Sobol, M., 2920W 

Sobota, R., 2255F* 

Sobral, J., 2150F 

Sobreira, C., 2425T 

Sobreira, N., 227, 889W, 

2387F*, 3131W 

Sobue, G., 52, 2472W, 

3221W 

Socci, N., 998F 

Sochett, E., 3100F 

Soden, S. E., 366, 2793F, 

2894T 

Söderberg, S., 2070W 

Soejima, H., 3499T, 3519T 

Soens, Z. T., 430W 

Soerensen, M., 2244W*, 

2295W 

Soezima, H., 3432T 

SOFFOET, 77 

Sohail, A., 2959W 

Sohn, W. J., 846F 

Sohn, Y., 3103W* 

Sohn, Y. B., 787W 

Soi, S., 3303T, 3338W* 

Soini, Y., 1114T 

Soininen, P., 1623T 

Solanki, N., 1779W 

Solberg, A., 991T 

Soldano, K., 1919F, 2340W 

Sole, G., 1516F 

Solé, G., 716T 

Soler, C. V., 2233T* 

Soliman, N. A., 2850F 

Sollier, C., 1182W 

Solnick, J. V., 449F 

Solomon, T., 1966T* 

Solot, C. B. S., 2443T 

Solovieff, N., 1325W* 

Solovieva, S., 2120F 

Solski, J. A., 2816T 

Solverson, P., 710T 

Solyom, S., 1229F* 

Somasundaram, P., 2056T 

Somerharju, P., 541F 

Sommargren, M., 1766W* 

Sommen, M., 59 

Sommers, J. A., 2692W 

Son, N., 1590T 



Søndergaard, M. T., 2699T 

Song, C. X., 3483T 

Song, G., 1762W 

Song, H., 139* 

Song, I. W., 2858T* 

Song, J., 1657T 

Song, J. I., 3673F 

Song, K., 106, 2273F, 3020T* 

Song, L., 159 

Song, O., 1675T 

Song, P., 3553F 

Song, S., 3567F 

Song, Y., 182, 557F*, 1259F, 

2020T, 2246F, 2254T 

Song, Y. M., 1654T, 2118W 

Song, Y.-M., 1656T, 2119T 

Song, Y. S., 184 

Song, Z., 3275W 

Sonnenberg, A., 2848W 

Sood, R., 664T, 824F, 

1983W 

Soodyall, H., 3377W 

Soo-Jin Lee, S., 1844F 

Sooknanan, R., 3668W, 

3721F* 

Soon, W., 416W 

Soong, B.-W., 2581T 

Sopher, B. L., 2628W 

Soplepmann, J., 1140W 

Soppet, D., 13 

Sorant, A. J. M., 1347T, 

1396F 

Soranzo, N., 44, 110, 383, 

503F, 583F, 1604T, 

2082W 

Sorarù, G., 1732W, 2775F 

Sorbrino, A., 957W 

Sørensen, T., 1528F 

Sørensen, T. I. A., 2116T, 

3028T 

Soresina, A. R., 760W 

Soria, J. M., 1651T* 

Sorosina, M., 624T, 2095T 

Sorrentino, G., 1985F 

Sorrentino, P., 1985F 

Sosa, D., 1048T, 1049F 

Sosa, M. X., 13, 308 

Sosman, J., 136 

Sosnay, P. R., 1731W 

Sotiriou, C., 3017T 

Sotiroska, V., 2983T 

Sotomaior, V. S., 870T, 

2475W, 3055W 

Sotoodehnia, N., 1585T 

Soubeyrand, S., 1645T 

Soubrier, F., 1170W 

Soucy, P., 207 

Soufir, N., 29, 1062W* 

Soulier, A., 1817W 

Sousa, A., 1296T, 2736F 

Sousa, I., 1977W*, 2085W 

Sousa, R., 3122F 

Sousa, S., 913W, 1747W, 

3019T 

Sousa, S. B., 2755W* 

Soussi-Yanicostas, N., 843F 

Soutar, A., 1618T 

South, S., 3088F 

Southam, L., 2044T, 3396T 

Southern, M. R., 1162T 


Southey, M., 1213T* 

Southey, M. C., 27, 3679F 

Southgate, L., 2804T* 

Souto, J. C., 1651T 

Souza, D. O. G., 2424W 

Souza, G., 3562W 

Souza, G. N., 2424W, 2626T 

Souza, I. R., 994T, 1405F, 

1946F 

Souza, J., 870T, 959W, 

2270F, 2746W, 3055W 

Souza, L. T., 2270F 

Souzeau, E., 1785W* 

Sovath, S., 2973T, 3023T 

Sovio, U., 2162F 

Sovová, J., 322 

Spacek, D., 525F, 604T*, 

3505T 

Spacilova, J., 752T 

Spadafora, P., 2597F 

Spaeth, J. M., 125 

Spaich, C., 3111W 

Spain, S. L., 154, 1927T 

Spalding, J. D., 497F 

Spangler, J., 1244F 

Sparagana, S., 3108F 

Sparén, P., 1707T 

Sparks, A. B., 3020T 

Sparks, K., 3211W 

Sparso, T., 2311T 

Sparsø, T., 2317T, 2347T 

Speck-Martins, C. E., 2596T 

Spector, E., 451F 

Spector, T., 109, 583F, 

1440T, 2165F, 2171F, 

2292W, 3453T 

Spector, T. D., 44, 277, 

335, 503F, 546W, 1216T, 

1311T, 2029T, 2138F, 

2175W, 2359T, 3441T 

Speed, D., 1394W* 

Speed, W. C., 3313F 

Spehlmann, M., 2368T 

Speicher, M. R., 1063T, 

1115F, 3116F 

Speleman, F., 423F 

Speliotes, E. K., 1954T, 

2090F, 2123F, 2147F, 

2210F*, 2241W, 2275T 

Spence, S. J., 299 

Spencer, C., 2157W 

Spencer, C. C. A., 1340W* 

Spencer, K., 2041T 

Spencer, K. L., 2042F 

Spencer, M., 1685T 

Spengler, S., 3111W* 

Sperber, S. M., 3163W* 

Sperl, W., 699F, 782W 

Sperle, K., 2664F 

Spertus, J. A., 2535W 

Speziani, F., 1871F*, 2930T 

Spiegelman, D., 1670T, 

2306F, 2338T, 2342F, 

2558F, 2591F 

Spier, I., 1005W 

Spindola, L. M. N., 2534F* 

Spinella, J., 394* 

Spinella, J.-F., 31, 3268F 

Spinella, J. F., 1207T, 

1215W 

Spinner, N., 3082F 

Spinner, N. B., 2316W, 

3040F 

Spiro, J. E., 299, 2439W 

Spitali, P., 574W* 

Spizzichino, L., 71 

Spraggs, C., 630T 

Spraggs, C. F., 651T 

Sprissler, R., 2788W 

Spritz, R. A., Session 80 

Sprott, K. M., 1171T 

Sprowl, J., 3007T, 3021T 

Spruill, I. J., 1662T 

Spurdle, A. B., Session 4, 

1067F 

Spurrell, C. H., 26*, 1089W, 

1226F 

Spyrou, C., 3017T 

Squire, K. M., 3666W* 

Srichomthong, C., 709F, 

1944W, 2006F 

Sriha, B., 2744T 

Srikanth, A., 2491T 

Srikanth, S. M., 3316F 

Srinivasan, A., 3007T, 

3021T* 

Srinivasan, M., 975W 

Srinivasan, R., 362 

Srinivasan, S., 2943F 

Srinivasan, S. R., 2274W 

Sriram, G., 2238W 

Sritharan, K., 2525F 

Srivastava, A., 931W, 

1587T, 1598T, 3465T 

Srivastava, A. K., 2826F*, 

2837T 

Srivastava, D., 195 

Srivastava, G., 380, 3450T 

Srivastava, G. P., 3417T* 

Srivastava, N., 1134W 

Srivastava, P., 1135T* 

Srivastava, R., 1287T, 

1294F, 1883F 

Srivastava, R. N., 1288F* 

Srivastava, V. M., 931W* 

Srour, M., 2790F* 

Staats, S., 3377W 

Stack, C. A., 632T 

Stacpoole, P. W., 164 

Stade, B., 3583F* 

Stadler, Z., 998F, 1159T, 

1841W 

Staggs, R., 1665T 

Stahl, E., 350, 2199W* 

Stahl, E. A., 625T, 1331W, 

2210F, 2258F 

Ståhle, M., 2276F 

Stainier, D., Session 26 

Stajich, J., 1919F, 2946F 

Stalker, H., 3126F 

Stalker, J., 216 

St-Amant, M., 1065W 

Stamato, T., 1142F 

Stamatoyannopoulos, J., 

3459T 

Stamatoyannopoulos, J. A., 

255*, 402 

Stambolian, D., 2183F 

Stambouli, D., 2728W 

Stan, A., 2954T 

Stanaway, I. B., 10 

Stanaway, I. B. S., 2443T 

Stančáková, A., 46 

Stanek, E. J., 1714T 

Staneva, R., 3477T, 3481T* 

Stanford, J., 28, 1001F 

Stanford, J. L., 1214F, 

2202W 

Stangier, K., 3701F* 

Stanhope, S., 1395T* 

Stanier, P., 303, 2752W*, 

3501T 

Stankiewicz, P., 229, 430W, 

432W, 485F, 952T, 2395T, 

2403W 

Stankiewicz, P. T., Session 22 

Stanley, K., 2003F 

Stanton, J., 3333T 

Staples, J., 223* 

Stapleton, E., 239 

Stark, A. L., 614T* 

Starker, L. F., 1241F 

Stassinopoulos, A., 3720W 

State, M., 13, 553F, 1433W, 

2478W, 2605T 

State, M. W., 2560T, 2577W, 

2602T 

Stathaki, E., 2937F 

Staufenbiel, I., 2058W 

Stavropoulos, D. J., 103, 

3100F, 3106F, 3183W 

Stavropoulos, J., 1872F, 

1873F 

Stavropoulou, A., 1228T* 

Stavropoulou, A. V., 1191W 

Steck, A. K., 1330F 

Steckley, J. L., 2779W 

Steel, K. P., 1, 105, 2302T 

Steele, L., 2905W* 

Steele, P. D., 1759W 

Steele, T., 3340F 

Steenpass, L., 392* 

Steensbjerre Moller, R., 

889W 

Stefan, M., 573F* 

Stefani, M. M. A., 2475W 

Stefanick, M. L., 2145W 

Stefanidis, C. J., 2850F 

Stefanova, I., 219 

Stefanovic, V., 3481T 

Stefanowicz, D., 1465F 

Stefansson, H., 106, 252 

Stefansson, K., 106, 583F, 

2165F, 2317T 

Steffann, J., 72* 

Steger, M., 782W 

Stegger, M., 1323T 

Stein, C. M., 1295W* 

Stein, J., 75 

Stein, J. L., 2054F 

Stein, L., 135 

Stein, L. D., 1093T 

Steinbeisser, H., 1612T 

Steinberg, J., 2476T* 

Steinberg, S. J., 3448T 

Steinfeld, I., 3588W 

Steinmann, K., 299 

Stejskal, D., 2865F 

Stemming, J., 1680T 

Stemple, D., 363

Stemple, D. L., 37, 214 

Stenroos, E. S., 2501F 

Stephan, D. A., 2301W 

Stephan, M., 2740W 

Stephans, J., 1198T 

Stephens, J., 383 

Stephens, J. C., 503F, 

1604T, 2804T 

Stephens, K., 1753W 

Stephens, M., 273, 1463W, 

1514W, 1580W 

Stephenson, M., 2977T 

Stephenson, R., 1328W 

Stergiakouli, E., 2081F 

Steri, M., 1516F*, 2198F 

Stern, M. C., 1075T 

Stern, M.-H., 1205F 

Sternberg, C. N., 651T 

Stevanin, G., 2820F* 

Stevanovic, S., 1233W 

Stevens, A. J., 3440T 

Stevens, C., 8, 290, 322, 

2319W 

Stevens, C. R., 2613W 

Stevens, E., 3374W* 

Stevens, J., 412W, 486W, 

532W, 851F, 1146W, 

2397W 

Stevens, K., 615T 

Stevens, V., 1012T 

Stevens, V. L., 1390F 

Stevenson, D., 3177W, 

3189W 

Stevenson, D. A., 3076F 

Stevenson, R., 3185W 

Stevison, L., 285 

Stevnsner, T., 2244W 

Steward, M., 3310F 

Stewart, A., 126 

Stewart, C. L., 2914W 

Stewart, D. R., 132*, 1261T 

Stewart, E. A., 1145F, 2056T 

Stewart, F., 512W, 3517T 

Stewart, F. J., 218, 3702W*, 

3715F 

Stewart, H., 2939T 

Stewart, R., 1269W 

Stewart, W., 1407T* 

St. George-Hyslop, P., 

2528F 

Stiasny-Kolster, K., 2568W 

Stiburkova, B., 2831T* 

Stiby, A. I., 1567F* 

Sticht, H., 2595W 

Stieler, K., 2760F 

Stienen, D., 1005W 

Stieren, J., 3671F 

Still, C., 2078F 

Stimpson, K. M., 69* 

Stitzel, M. L., 304 

Stitziel, N., 2199W 

St. Jean, P. L., 476W, 3406T 

St. Luke’s Dementia Study 

Group, 2466W, 2473T 

Stobdan, T., 3307F 

Stock, F., 2869W 

Stock, R., 1309F 

Stöcker, T., 1335T, 1430W* 

Stockler, S., 750T*, 756W 

Stockley, T., 3183W 


Stockley, T. L., 2905W 

Stockton, D., 885W, 3147W 

Stockton, D. W., 2678T 

Stoddard, G., 1904F 

Stoeger, R., 1580W 

Stoessl, A. J., 346 

Stoetzel, C., 2887W 

Stofanko, M., 3107W, 3110F 

Stojanov, P., 402 

Stok, M., 796W 

Stokes, P., 3700W 

Stokes, T., 3011T 

Stoler, J., 2151W 

Stoletzki, N., 402 

Stolk, L., 2141F 

Stoll, C., 3073W* 

Stoll, M., 3577F 

Stolle, C., 2904F 

Stolte- Dijkstra, I., 127 

Stone, A., 3306T 

Stone, A. C., 3251W 

Stone, B., 3527F 

Stone, D. U., 529F, 2188T 

Stone, E. M., 387, 2750T 

Stone, K. L., 2375F 

Stone, N., 1309F 

Stoppa-Lyonnet, D., 1205F 

Storey-Montalvo, G., 2272T 

Storm, K., 2757F 

Stormo, C., 576W* 

Storniolo, A. M., 1098W 

Stowe, Z. N., 2384F 

St. Pourcain, B., 1318F, 

1567F, 1583W, 2081F, 

2164T*, 2169W 

Strachan, E., 434W 

Strader, L. C., 1566T 

Straka, R., 1641T 

Stram, D., 1324F 

Stram, D. O., 1292W, 

2202W 

Strandgren, C., 2427W 

Stranecky, V., 752T 

Stranger, B., 3310F 

Stranger, B. E., 584W, 

1907F, 2250W 

Strassburger, D., 3002T 

Strasser, D. S., 684T 

Strauch, K., 190, 275, 

2226W 

Strauss, D., 1159T 

Strawbridge, R., 2147F 

Strawbridge, R. J., 1954T, 

2123F 

Stray, S. M., 1089W, 1226F 

Stray-Pedersen, A., 360, 

2908W 

Strazza Júnior, P. S., 3280F 

Strecker, M., 954T 

Strecker, V., 782W 

Street, C., 382 

Streeter, I., 3636W 

Strengman, E., 2553W, 

2661W 

Strick, R., 3153W 

Strickland, A., 2668W 

Strike, L., 2054F 

Stringham, H. M., 46 

Strissel, P., 3153W 

Strohecker, B., 3698W 


Strom, C. M., 2260T, 3522T 

Strom, S. S., 2202W 

Strom, T., 567F, 582W, 

2557T 

Strom, T. B., 2260T 

Strom, T. M., 699F, 2567F, 

2595W, 2693T, 2917W, 

2922F 

Strome, E. D., 384 

Strong, E., 3482T* 

Strong, K. A., 1837W* 

Strong, L., 1197W 

Strong, L. C., 1221W 

Strother, D., 1052F 

Stroud, D., 806F 

Stroud, T., 884T 

Strovel, E., 1729W 

Strug, L., 2953W 

Strug, L. J., 1322W, 1531F*, 

2580W 

Strunz, C. M. C., 636T 

Strutz-Seebohm, N., 86 

Stuart, A., 3672W 

Stuart, P. E., 154, 1952F 

Stuart, S., 1167W 

Stückler, F., 2226W 

Stuckless, S., 1066T* 

Studer, M., 808F 

Study AT1001-013 Principal 

Investigators, 732T 

Study of Osteoporotic 

Fractures and 

Osteoporotic Fractures 

in Men Study Groups, 

2375F 

Stuenkel, A. J., 1767W* 

Stuffrein-Roberts, S., 3440T 

Stuhrmann-Spangenberg, 

M., 1868F 

Sturm, M., 1200W, 1233W 

Sturtz, F., 2694F 

Sturzeneker, R., 2434T 

Stutz, M., 210 

Stutzman, F., 2887W 

Styrkarsdottir, U., 109 

Su, A. I., 3584W* 

Su, B., 3317W* 

Su, C., 2761W 

Su, C.-T., 129 

Su, D., 1322W, 2953W 

Su, H., 1010F, 1218W 

Su, J., 1183T, 2999T 

Su, M., 2000F*, 2116T 

Su, S., 3418T 

Su, W., 989F 

Su, Z., 136 

Suárez, E., 3315T 

Suchi, S., 1765W 

Suchiman, H. E. D., 2035T 

Suchy, S. F., 330 

Suchy-Dicey, A., 584W, 

1284T, 1503T 

Suda, L., 3044F 

Sudbrak, R., 567F, 582W 

Sudlow, C. L., 1313W 

Sudman, M., 2143T* 

Sudmant, P. H., 278, 375, 

3296W 

Sudo, A., 2822T 

Suematsu, M., 2911W 

Suemoto, C. K., 919W 

Suen, Y. K., 3491T 

Suenaga, T., 1631T 

Sugahar, K., 2861T 

Sugahara, K., 3230F 

Sugahara, Y., 548W, 558W, 

559F, 599F 

Sugalski, R., 433F 

Sugano, S., 2619W, 2923W 

Sugawara, H., 3513T 

Sugawara, Y., 3091W 

Sugier, P.-E., 2079W*, 2248T 

Sugimoto, K., 1987T 

Sugimura, H., 2507F 

Sugino, S., 1940F 

Sugiyama, M., 2130W, 

3682W 

Suh, J. Y., 846F 

Suhl, J., 540W* 

Suhre, K., 228, 2226W 

Sui, D., 1291F 

Sukhadia, S., 2316W 

Suktitipat, B., 1347T, 

1396F*, 1690T 

Sukumar, A. T., 3251W 

Sul, J., 1341T*, 3555F 

Sul, J. H., 3623F 

Sulcova, V., 3522T 

Sule, G., 2864T, 3209W* 

Sule, N., 2542T* 

Sulem, P., 2317T 

Sulis, M. L., 1031F 

Sullivan, A. K., 2362T* 

Sullivan, B. A., 69, 384* 

Sullivan, J., 147 

Sullivan, K., 953W, 2778F 

Sullivan, L. L., 69, 384 

Sullivan, L. S., 3234F 

Sullivan, P., 235, 280, 

1325W, 2487W 

Sullivan, P. F., 290, 1350T, 

2468F, 2522F, 2576F, 

2618F, 3442T, 3452T, 

3659F 

Sulonen, A.-M., 2888T* 

Sulovari, A., 1339F 

Sultan, K., 1133F 

Sultan, M., 567F, 582W 

Sultana, R., 2697F 

Sumanas, S., 2724F 

Sumi, S., 2440T 

Summar, M., 670T 

Summerer, M., 3319F 

Sumner, C., 512W, 3517T, 

3715F 

Sumner, C. J., 3702W 

Sun, C., 1625T, 2561F 

Sun, G., 1660T, 2159F, 

2206T, 3561F, 3619F 

Sun, H., 314, 1417F*, 1735W, 

1742W, 1757W, 1761W 

Sun, J., 3 

Sun, L., 798W, 1322W, 

1412W, 2109W, 2376W, 

2819T, 2953W 

Sun, M., 2458T 

Sun, N., 2433W* 

Sun, P., 1061F 

Sun, Q., 165, 537F, 2080T, 

2116T 



Sun, S., 1101W, 3585F*, 

3593F 

Sun, W., 1027T, 1560T*, 

2260T, 3522T 

Sun, X., 246, 2644T* 

Sun, Y., 78, 161*, 690T, 

736T, 2063F, 2701W 

Sun, Z., 2617T 

Sunaga, D. Y., 814F, 2414F 

Sundararajan, R., 803W 

Sundaresan, V., 2773W 

Sunde, L., 3148F 

Sunderam, U., 362 

Sundramoorthy, A., 880T* 

Sundsbak, J. L., 1909T 

Sung, H., 1396F, 1690T*, 

2584T 

Sung, J., 1384F, 1654T, 

1656T, 2118W, 2119T, 

3259F 

Sung, K., 1369F 

Sung, S., 900T 

Sung, Y., 1608T, 2063F, 

2117F 

Sung, Y. J., 2116T 

Sunkin, S., 2444F* 

Sunyaev, S., 402*, 2199W, 

2209T, 3310F 

Sunyaev, S. R., 1550W, 

3404T 

Sunyer, J., 2167T, 2168F 

Suomalainen, A., 327 

Superko, H. R., 1714T* 

Superti-Furga, A., 3190F 

Suphapeetiporn, K., 709F, 

1944W, 2006F*, 2749W 

Sur, A. L., 1805W 

Surakka, I., 119*, 190, 

1308T, 2076W, 2110T, 

2137T, 2175W 

Surdulescu, G., 503F 

Surti, U., 904T*, 971W, 

993W, 1744W 

Suskin, B., 3022T* 

Susswein, L., 688T 

Sutcliffe, C., 1316W, 1377T, 

1602T, 1671T, 1928F, 

2037W 

Sutcliffe, J., 1520W 

Sutcliffe, J. S., 268, 2577W 

Sutera-Sardo, J., 2536T 

Suthanthiran, M., 2260T 

Suther, R., 3207W 

Sutherland, M., 853F 

Sutton, V. R., 33, 227 

Suvarnan, L., 2234F 

Suver, C., 2220W 

Suvisaari, J., 252 

Suzuk, Y., 2294F 

Suzuki, A., 531F, 1984T*, 

2004W 

Suzuki, A. M., 2654F* 

Suzuki, H., 663F, 1631T 

Suzuki, M., 475F, 2440T 

Suzuki, N., 2882T 

Suzuki, S., 2440T 

Suzuki, T., 1317T*, 2823F 

Suzuki, Y., 1631T, 2174F, 

2264F, 2619W, 2923W 

Svaneby, D., 1565W 


Svensson, P., 2369F 

Svensson, P.-J., 3245W 

Svetkey, L. P., 147 

Svidzinski, A. E., 3324T* 

Svirski, R., 2691F 

Swami, S., 585F 

Swaminathan, K., 3726W 

Swaminathan, S., 2531F 

Swamy, S., 596W 

Swan, G. E., 642T 

Swan, H., 1835W 

Swanson, D. M., 1397W* 

Swanson, W., 3306T 

Swaroop, A., 385, 822F, 

824F, 827F, 830F, 1774W, 

2135F, 2183F, 2680W 

Swedish Schizophrenia 

Consortium, 2487W, 

3442T, 3452T 

Swedish Schizophrenia 

Consortium, ARRA 

Autism Sequencing 


Sweeney, T., 397 

Sweetman, L., 1684T 

Swenson, J., 3182F 

Swerdlow, A., 2165F 

Swertz, M. A., 3610W 

Swierczek, S., 3297T 

Swift, C., 1684T 

Swindell, E. C., 1908W 

Swindle, K., 1983W 

Swinkels, D. S., 306 

Swinkels, M. E., 217 

Swoboda, K. J., 2581T, 

2951T 

Swofford, D. L., 1382W 

Syed, F., 3718W* 

Syed, S., 83 

Symer, D. E., Session 24 

Symoens, S., 129, 2225F 

Symons, R. C. A., 1989W 

Syngelaki, A., 3508T 

Synofzik, M., 2797W 

Syoji, K., 2619W 

Sysoeva, E., 773W 

Sysol, J. R., 2683W 

Syvänen, A.-C., 567F, 

569F, 582W, 617T, 619T, 

1624T, 3217W, 3427T 

Szabo, C., 1219T 

Szafranski, K., 580W, 

1236W 

Szafranski, P., 432W, 2395T* 

Szak, S., 2561F 

Szatkiewicz, J. P., 1350T* 

Szatmari, P., 175, 2620T*, 

3086F 

Szekely, A., 334 

Szelinger, S., 3215W* 

Szepetowski, P., 2581T 

Szeto, D., 1605T 

Szigeti, K., 2489F*, 2542T 

Szkotnicki, L., 3648W 

Szkotnicki, L. T., 1251W 

Sznajer, Y., 124 

Sznewajs, A., 3198F* 

Szperl, A., 1330F 

Szpiech, Z. A., 3285T* 

Szporn, A., 3145W 

Szulkin, R., 1189T* 

Szulwach, K., 382 

Szulwach, K. E., 3483T* 

Szuto, A., 2342F, 2591F 

Szu Tu, C., 346, 2537F 

Szymanska, K., 403 

Szymanski, M., 2461T, 

2486F 

Szymczak, S., 1363F*, 

1512T, 1669T, 3591F 

T 

T1DGC, 1299T 

T2D-GENES, 176 

T2D-GENES Consortium, 

169, 269 

Taal, H. R., 2081F, 2162F 

Tabara, Y., 2361W* 

Tabatabai, Z. L., 408 

Tabatabaiefar, M. A., 59 

Taber, T., 693F, 713F 

Tabet, A. C., 901W* 

Tabor, H. K., Session 25, 

74, 94, 148, 171, 301*, 

1842F 

Taboulet, F., 1811W 

Tabuteau, S., 716T 

Tachdjian, G., 894T 

Tachmazidou, I., 2044T, 

3396T, 3412T* 

Tackney, J., 3323W 

Tag, J., 1295W 

Taggart, R. T., 3523T* 

Taghikhani, A., 1143W, 

1739W 

Taghizadeh, M., 779W* 

Tagliaferri, R., 3631F 

Taguri, M., 1290T 

Tahar Yacoubi, M., 403 

Taher, L., 407, 545F 

Taherian, N., 1065W 

Tahir Turanli, E., 2429F, 

2450F, 2841F, 3475T 

Tahmasebifar, A. T., 1096T 

Tai, E. S., 2094W 

Taibah, K., 2734W 

Taira, M., 2409W* 

Taja, L., 2365T 

Takada, L., 2639F 

Takada, T., 663F 

Takada, Y., 663F 

Takagi, S., 2569T 

Takahashi, A., 627T, 1631T, 

2004W, 2174F, 2506T 

Takahashi, H., 396 

Takahashi, K., 1998W, 

1999T 

Takahashi, M., 799W* 

Takahashi, Y., 52, 233, 

2409W, 2569T* 

Takamura, T., 1888T 

Takanari, H., 217 

Takanohashi, A., 2452T 

Takao, K., 2550W, 2647T 

Takashima, H., 2418W*, 

2601W, 2607W, 2616W, 

2823F 

Takata, R. I., 2596T 

Takazoe, M., 2174F 

Takeda, S., 232 

Takenouchi, T., 3093W 

Takeshima, Y., 729F, 781W 

Takeuchi, G., 2747T 

Talajic, M., 1678T 

Talasar, A., 1167W 

Talbot, K., 2470T 

Talebizadeh, Z., 2379W* 

Talebzadeh, F., 860T 

Talim, B., 751F, 2945T 

Talkowski, M., 70, 98, 

2562W 

Talkowski, M. E., 68*, 103, 

554W, 862T, 2458T 

Tallila, J., 252 

Talmud, P. J., 122, 2175W 

Talseth-Palmer, B. A., 916T 

Tal-Singer, R., 2249F 

Talwar, D., 2788W 

Talwar, P., 2967T 

Tam, A., 3085W 

Tam, C., 2279F, 2280W* 

Tam, K., 142 

Tam, P. H., 3123W 

Tam, P. K. H., 408, 1930T, 

2066F, 2932W 

Tam, S., 2660F 

Tam, T., 675F 

Tamada, I., 3192F 

Tamakoshi, A., 1833W 

Tamari, M., 2294F 

Tamaru, S., 2873T 

Tambets, K., 3286F* 

Tamburrini, G., 2235W 

Tamhankar, P., 2803W 

Tamiya, G., 1317T, 1549F 

Tamm, R., 2144F* 

Tammaro, R., 808F, 2810T 

Tammela, T. L., 995F, 1000T, 

1302T 

Tammesoo, M. L., 1832F 

Tampakeras, M., 2608T 

Tamraz, B., 335 

Tamura, A., 3221W 

Tan, A., 1446T* 

Tan, A. G., 2094W 

Tan, C., 1737W, 3090F 

Tan, C. S., 2561F 

Tan, D. E. K., 1934F 

Tan, E. C., 2889F, 3034T* 

Tan, G., 3200F 

Tan, M. H., 527F 

Tan, P., 2889F 

Tan, Q., 1365T, 2244W, 

2295W 

Tan, W., 1242W 

Tan, X., 2251T, 3089W, 

3648W 

Tan, X. X., 1251W 

Tan, Y., 1618T, 3210F* 

Tanabe, O., 52 

Tanaka, H., 396, 2174F, 

2697F, 2822T 

Tanaka, K., 2133W 

Tanaka, M., 233 

Tanaka, T., 1391W, 1631T, 

1643T, 2080T, 2116T 

Tanaka, Y., 2130W 

Tanck, M. W., 1604T

Tandon, A., 350, 3433T 

Tandy, S. L., 1767W 

Taner, N., 380 

Tanese, K., 2911W 

Tang, C. S., 2161T*, 2323T 

Tang, C. S. M., 1930T, 2066F 

Tang, F., 491F 

Tang, G., 893W* 

Tang, H., 159, 421F, 581F, 

646T, 1157F, 1408F, 

1504F, 2223W, 2634W, 

3318T, 3342T, 3383W 

Tang, L., 589F 

Tang, L. F., 362 

Tang, L. Y., 2985T 

Tang, M., 2973T, 3023T* 

Tang, P., 2254T 

Tang, P. L. F., 1694T 

Tang, W., 510W*, 1091F, 

1092W, 1094F, 1097F, 

1155W 

Tang, X., 2237F 

Tang, Y., 1591T* 

Tang, Z., 170, 966T* 

Tang, Z.-Z., 1010F 

Tang, Z. Z., 1076F 

Taniguchi, A., 2004W, 

2032T*, 2287T, 3221W 

Taniguchi, H., 8 

Taniguchi, M., 232* 

Taniguchi, T., 137 

Taniguchi, Y., 2458T 

Tanioka, F., 2507F 

Tanizawa, Y., 2679F 

Tanna, U., 3378T 

Tan-Sindhunata, G. M. B., 

214 

Tantau, J., 77 

Tantisira, K., 623T, 638T 

Tantisira, K. G., 622T, 625T, 

811F, 2166W 

Tantravahi, U., 765W 

Tanzer, A., 506W 

Tanzi, R. E., Session 10, 

2520W 

Tao, J., 411 

Tao, K., 1783W 

Tao, R., 73 

Tapia-Guerrero, Y., 3124F* 

Tapscott, S., 2840T 

Tapscott, S. J., 55 

Tarabishy, Y., 1238F 

Tarantino, P., 2763F, 2766F, 

2774T, 2780T* 

Tarasova, L., 608T 

Tarassov, I., 329 

Tarazona, E., 3562W 

Tarazona-Santos, E., 

1119W, 3325F* 

Tardif, J., 665F* 

Tardif, J.-C., 3401W 

Tardón, A., 1091F 

Tare, A., 1988F 

Tarekegn, A., 3322F 

Tarini, B. A., 313 

Tario, J. D., 3523T 

Tariq, M., 1674T*, 2920W 

Tariq, N., 2959W 

Tariq, S., 160 

Tarlé, R. G., 1978T* 


Tarn, C., 853F*, 2300F 

Tarnopolsky, M., 2554T 

Taroni, F., 2764W, 2775F, 

2781F* 

Tarrier, B., 1568W, 2329T, 

2850F, 3664W 

Tartaglia, M., 215 

Tarway, M., 1097F 

Tasan, M., 2660F 

Taschner, P., 3586W* 

Taschner, P. E. M., 3610W, 

3611F 

Tascón-Peñaranda, E. P., 

3315T, 3363T 

Tashiro, K., 724T, 2129F 

Tashtosh, R., 1881W 

Tasic, V., 845F 

Taskiran, E., 219 

Tasseva, G., 2755W 

Tassone, F., 2491T, 2634W 

Tat, M., 1167W 

Tata, S., 3569F 

Tatar, A., 1326T 

Tatè, R., 2810T 

Tatonetti, N., 646T 

Tatum, Z., 3611F 

Taub, M., 2461T, 2566T 

Taub, M. A., 1512T 

Taub, P. J., 2151W 

Tauer, U., 2917W 

Tavano, C., 3677F 

Tavares, A., 691F 

Tavares, P., 1778W* 

Tavares, V. L. R., 813F* 

Tavendale, R., 1082F 

Tavernier, J., 2660F 

Taviaux, S., 857W, 936T, 

2386T 

Tavormina, J., 76 

Tavtigian, S. V., Session 

4, 195, 1067F, 1213T, 

1783W* 

Tawamie, H., 2557T 

Tawil, R., 55, 2840T 

Tawk, M., 54 

Tay, S. K. H., 771W 

Tay, W. T., 2094W 

Tayama, C., 3499T 

Tayel, S., 930T* 

Taylor, A., 1257W 

Taylor, H. A., 1677T 

Taylor, H. G., 1295W 

Taylor, J., 967W, 2939T, 

2989T*, 3547F 

Taylor, J. C., 133*, 211 

Taylor, J. F., 2847F 

Taylor, J. G., 1259F 

Taylor, J. S., 1272W* 

Taylor, K. C., 2145W* 

Taylor, K. D., 1445W, 1916F, 

2153F 

Taylor, K. M., 2796F 

Taylor, K. T., 2131T 

Taylor, L., 142 

Taylor, M., 1318F* 

Taylor, N., 1109F 

Taylor, P., 315, 2874F* 

Taylor, P. L., 1836F 

Taylor, P. R., 1010F, 1076F, 

1218W 


Taylor, S., 218 

Taylor, S. P., 1685T 

Tayo, B., 1959W*, 2063F 

Teckman, J., 735F 

Tedeschi, G., 2095T 

Tedeschi, H., 514W 

Teer, J. K., 1690T, 1696T 

Teerlink, C., 1001F*, 1149W 

Tegg, E., 932T* 

Teglas, S., 107 

TeGrootenhuis, L. T., 2301W 

Teh, M. S., 3267T 

Teichgraeber, J. F., 1908W 

Teilum, M. W., 1194W 

Teimori, H., 892T 

Teive, H. A., 2475W 

Teive, H. A. G., 2609F 

Teixeira, P., 1593T 

Tejasvi, T., 154, 1952F 

Tejeda, L., 507F 

Tejero, E., 526W 

Tekin, M., 57*, 297, 2719W, 

2772F, 3125W 

Tembe, W., 1240T 

te Meerman, G. J., 1284T, 

1503T 

Temel, S., 1708T* 

Temple, I. K., 3494T* 

Templeton, A. K., 566W 

Temtamy, S., 2937F 

Teng, W., 2721F 

Teng, Y., 655T* 

Tengström, M., 1114T 

Tengvall-Linder, M., 1939T 

ten Kate, S., 3159W 

Tenniswood, M., 1192T 

Teo, Y., 1418W 

Teo, Y. Y., 2094W, 3284W, 

3339T 

Tepperberg, J., 949W 

Terai, M., 1631T 

Teramo, K., 3030T 

Terao, C., 2004W, 2361W 

Terdiman, J., 1059W 

Terhal, P., 217 

Terhal, P. A., 2848W, 2886F 

Terhorst, L., 1884W 

Terk, M., 1309F 

Ter Kuile, M., 1788W 

Terrier, B., 177 

Terry, J. G., 1913F 

Terry, M. B., 1213T 

Terwilliger, J. D., 194, 

897W, 1563T, 2179T*, 

2208W 

Terwisscha van Scheltinga, 

A. F., 2526W* 

Terzi, Y. K., 594W, 1013F, 

3003T, 3243W, 3424T, 

3426T* 

Terzioglu, G., 2429F 

Tesar, V., 3437T 

Tesarova, M., 699F, 752T* 

Teslovich, T. M., 46, 169*, 

176, 269, 1513F, 1923W, 

2308T, 2339F 

Tesmer, T., 3689F 

Tessari, M., 2696T 

Testa, F., 2950W 

Tester, D. J., 2885T, 2906T* 

Tétreault, M., 2797W, 

2900T* 

Teumer, A., 275, 584W, 

1284T, 1503T, 2080T* 

Texas Alzheimer Research 

and Care Consortium, 

2489F 

Teyssier, J.-R., 2729T 

Tezcanli Kaymaz, B., 1025F 

Tezenas du Montcel, S., 

2545T* 

Thacker, M. M., 33 

Thackray, L., 3600W 

Thair, S. A., 1632T* 

Thakkar, P., 865W 

Thakur, M. L., 797W 

Thangaraj, K., 1950W, 

2967T, 2988T 

Thangavel, A., 3369T 

Thappa, B., 802W 

Thareja, G., 3369T 

Thauvin-Robinet, C., 403, 

2716W, 2729T, 2770W, 

2792T 

Theda, C., 3484T* 

Thedens, D. R., 404 

Theis, F. J., 2226W 

Theis, J. L., 1695T* 

Thekkoot, D. M., 2717T 

Thelma, B. K., 2382W, 

2941W* 

Thenral, S. G., 2941W 

Theodore, D., 630T 

Thera, M., 2255F 

Theusch, E., 601T, 615T* 

ThevaDas, K., 1625T 

Thevenon, J., 1293T*, 

2716W, 2770W, 2792T 

Thézé, N., 841F 

Thibert, R., 3119W 

Thibodeau, S., 28, 1001F, 

1267T 

Thibodeau, S. N., 986F, 

1067F, 1080W, 1206W, 

1214F*, 3564W 

Thiebaud, P., 841F 

Thiede, A., 849F 

Thiel, C. T., 2356T* 

Thiele, H., 105, 2759T, 2861T, 

2869W, 2930T, 2944W 

Thiering, E., 2162F 

Thiesen, M., 3579F 

Thiffault, I., 2771T* 

Thilbeault, K. S., 434W 

Thiruvahindrapuram, B., 175 

Thiselton, D. L., 2500T 

Thistlethwaite, P. A., 1051T 

Thobois, S., 2638T 

’t Hoen, P. A. C., 228, 542W, 

567F, 574W 

Thoenes, M., 236 

Thoeng, A. D., 2816T 

Thomale, J., 3524T 

Thomas, A., 2181W, 3508T 

Thomas, A. C., 303, 3501T* 

Thomas, A. W., 658T 

Thomas, B., 295, 1248W 

Thomas, C. E., 2241W 

Thomas, D., 1232F, 1569T*, 

3717F 



Thomas, E., 1618T 

Thomas, E. R. A., 2005T 

Thomas, J., 368 

Thomas, K., 2492F 

Thomas, K. A., 2121W 

Thomas, K. B., 1251W, 

3648W 

Thomas, L., 29 

Thomas, L. I., 727F 

Thomas, M. A., 3141W, 

3511T 

Thomas, M. G., 3322F 

Thomas, M. K., 50 

Thomas, P., 2262W 

Thomas, R. G., 2405F 

Thomas, R. H., 262, 

2821W 

Thomas, S., 403*, 456W, 

3240F 

Thomasse, Y. E. M., 2909T 

Thomassen, G., 3614W 

Thompson, A., 45, 1082F, 

1088F, 2620T 

Thompson, B., 300 

Thompson, B. A., 1067F*, 

1274F* 

Thompson, C., 346, 2537F 

Thompson, C. L., Session 

76, 1086W 

Thompson, E. A., Session 75 

Thompson, E. R., 1224W* 

Thompson, J., 3529F, 

3637F, 3656W, 3703F* 

Thompson, J. R., 115 

Thompson, M. D., 298 

Thompson, M. K., 3314W 

Thompson, N. E., 1821W* 

Thompson, P. M., 2054F 

Thompson, S., 2143T, 

3303T, 3338W 

Thompson, Z., 1061F 

Thomson, N., 3528W, 

3662W* 

Thorburn, D. R., 326 

Thorgeirsson, S., 1199F 

Thorisson, G. A., 3610W 

Thorland, E. C., 66 

Thorleifsson, G., 109, 119, 

1308T, 2076W, 2137T 

Thorn, C. F., 633T, 635T 

Thornton, A. M., 26, 1089W, 

1226F, 2600F 

Thornton, C., 2824W 

Thornton, T., 1424W* 

Thornton-Thompson, S., 

3449T 

Thornton-Wells, T., 1925F, 

2532W 

Thornton-Wells, T. A., 

2401T, 3275W 

Thorsteinsdottir, U., 115, 

2165F, 2317T 

Thrush, D. L., 103 

Thun, M., 1012T, 1091F, 

1154F 

Thurman, R. E., 255, 402 

Thusberg, J., 496W 

Thyagarajan, B., 1921T 

Tian, A., 3695F 

Tian, C., 2915T 


Tian, L., 2722W*, 2856F, 

2872W, 3561F, 3710W 

Tian, Q., 2053T 

Tian, S., 1269W 

Tian, Y., 553F, 2479T* 

Tibben, A., 1788W* 

Tibbetts, C., 1165T 

Tibbo, P., 2474F 

Tibboel, D., 834F 

Ticca, A., 2039F 

Tice, R., 3490T 

TIC Genetics Team, 2602T 

Ticozzi, N., 2775F 

TIDE BC, Treatable 

Intellectual Disability 

Endeavor in British 

Columbia, 750T 

Tidhar, R., 2869W 

Tidyman, W. E., 3242F 

Tiemeier, H., 431F, 2105F, 

2164T 

Tien, L., 2785W, 2892F 

Tienari, P., 2350T 

Tien Yin, W., 2041T 

Tieva, A., 1026W* 

Tiffin, N., 1808F 

Tifft, C., 359, 2870T 

Tifft, C. J., 2938W, 3543F 

Tikhomirov, A., 2333F* 

Tikkanen, E., 1709T* 

Tiller, G., 1866F 

Tilley, M. K., 3616W 

Tilling, K., 1583W 

Tillis, C., 3036F 

Tillman, V., 2703F 

Tillmann, H., 531F 

Tillmans, L. S., 986F 

Tiloca, C., 2775F 

Tim, R. C., 3014T 

Timman, R., 1788W 

Timmerman, V., 201, 2948T 

Timmermans, J., 80 

Timmers, H. J. L. M., 1220F 

Timms, L., 1093T, 1256F* 

Timpano, K. R., 261 

Timpson, N., 1567F, 2097W, 

2164T 

Timpson, N. J., 1318F, 

1528F, 1583W, 1626T, 

2081F*, 2162F, 2169W 

Timur, Z., 2669T 

Tin, A., 1932W* 

Tinat, J., 32, 1222T* 

Tincheva, R. S., 923W 

Tindall, E. A., 1085F* 

Ting, W., 1894T 

Tingaud, A., 841F 

Tinker, L., 2020T 

Tinker, S. W., 253 

Tinschert, S., 2403W 

Tintle, N., 1371T* 

Tiomkin, M., 788W 

Tipney, H., 649T 

Tipton, l., 249 

Tiraboschi, E., 1976F 

Tirado, C. A., 873W, 970T* 

Tiranti, V., 2810T 

Tirapo, C., 1205F 

Tiret, L., 2681T 

Tirri, D., 2377T 

Tischfield, J., 2582F 

Tischfield, J. A., 261, 

2433W, 2602T 

Tischkowitz, M., 1257W* 

Tischler, T., 2904F 

Tishkoff, S., 283, 518W, 

3306T 

Tishkoff, S. A., 3303T, 

3338W 

Title, A., 3506T 

Titus, T., 2916F 

Tivey, A., 101, 291, 364 

Tiwari, A., 628T 

Tiwari, H., 1410T, 3443T 

Tiwari, H. K., 434W 

Tiziano, F. D., 54 

Tjernagel, J., 299 

To, K., 2254T 

To, M. N., 2384F 

Tobias, E., 126 

Tobias, J. H., 1528F, 2169W 

Tobin, K., 2523W 

Tobler, K. J., 2998T* 

Toburen, D., 3677F 

Tochigi, M., 2370W 

Toda, T., 232, 2550W, 

2619W, 2963T, 3513T 

Todd, E., 3232F, 3244F* 

Todd, J., 453F 

Todorovic, S., 201 

Toes, R., 461F 

Tofanelli, S., 3377W 

Toffey, D., 2218T 

Toga, A. W., 3587F 

Tohonen, V., 807F 

Toi, A., 3075W 

Toji, L., 966T 

Tokarz, S., 2830W, 3287W 

Tokita, Y., 1574W, 2747T 

Tokuda, Y., 2129F 

Tokunaga, K., 1994F, 

2130W, 2349W, 2496W, 

2656T, 3301F 

Tokunaga, S., 2418W, 

2607W, 2616W, 2823F* 

Tokuzawa, Y., 2873T 

Toland, A., 1740W* 

Toland, A. E., 1274F 

Toledo, R. C., 3324T 

Toledo, R. C. P., 3375T* 

Tolentino, C., 2136W 

Toliat, M. R., 2861T 

Tolmie, J., 127 

Tolstrup, N., 1194W 

Toma, A. M., 1528F 

Toma, C., 2578T* 

Toma, J., 3682W 

Tomaselli, G. F., 305 

Tomasini, L., 334 

Tomatsu, S., 786W* 

Tomblin, J. B., 1973F, 3735F 

Tomczuk, M., 2675T 

Tomelleri, G., 1776W 

Tomer, Y., 573F 

Tominaga, M., 2891T, 

3094F 

Tomiuk, M., 954T 

Tomiyama, H., 1730W*, 

2559W, 2619W, 3134F, 

3221W 

Tomizawa, K., 2822T 

Tomlinson, I., 133, 1072T, 

1531F, 2580W 

Tomlinson, J. W., 3211W 

Tomlinson, M. W., 3020T 

Tommerup, N., 805F 

Tommiska, J., 2707W* 

Toncheva, D., 3477T, 3481T 

Toncheva, D. I., 923W 

Tonduti, D., 2786T 

Tonekaboni, S. H., 3197W 

Toneva, I., 3636W 

Tong, C., 2721F 

Tong, C. H., 1603T 

Tong, L., 2025W 

Tong, S., 238 

Tong, X., 1540F 

Tong, X.-Z., 166 

Tonge, P., 3463T 

Tongkobpetch, S., 709F, 

1944W, 2006F 

Toniolo, D., 2165F, 2366F 

Tönjes, A., 2080T 

Toome, K., 1140W 

Topacio, D., 1237T 

Topaloglu, H., 54, 201, 751F, 

2945T, 2948T 

Topcuoglu, N., 1025F 

Topete -Gonzalez, L. R., 

3187W 

TOPIC Study, 243 

Topol, E. J., 146, 1239W, 

1839W 

Topp, S., 348 

Topper, S., 1737W* 

Topuz, F., 1746W 

Torabi Dalivandan, S., 

3083W* 

Toralles, M. B. P., 2642F 

Torchia, B., 902T* 

Torelli, S., 2812W 

Torgerson, D. G., 158 

Toriello, H., 3037W 

Torii, C., 2882T, 3093W, 

3105W 

Tornador, C., 2303F, 2593T 

Tornes, L., 2049W 

Torniainen, M., 252 

Toro, C., 359, 2610W, 

2870T, 3543F 

Toro, J. R., 766W, 1012T* 

Toro-Ramos, A. J., 2433W 

Torres, F. R., 514W, 2876T* 

Torres, J. M., 2192F* 

Torres, L., 875W, 956T, 

1049F 

Torres, M., 2153F 

Torres, M. M., 2456F 

Torres, N., 526W 

Torres, T. T., 813F 

Torres, V. E., 1909T 

Torres-López, J., 1168T 

Torres Maldonado, L. C., 

1048T* 

Torri, F., 2459F, 2469W, 

2564F, 3587F* 

Torrico, B., 2578T 

Torstenson, E., 1489F, 

3275W, 3603F* 

Tortorella, G., 2766F

Torun, D., 590W, 1136F*, 

3195W 

Tosca, L., 894T 

Toscanini, U., 3364F, 3402T 

Tosi, L. L., 33 

Tosi, M., 1222T 

Tosolini, L., 1607T 

Toth, C. L., 162 

Totoki, Y., 396 

Tou, B., 894T 

Touho, H., 1290T 

Touitou, I., 3121W, 3166F 

Toung, J., 544W 

Toung, J. M., 370 

Touraine, R., 84, 127 

Tournaire, M., 936T, 3121W, 

3166F 

Tournev, I., 201, 2948T 

Tournier, I., 32*, 1222T 

Toussaint, W., 2225F 

Toutain, A., 403 

Toutain, J., 473F 

Touvana, E., 3017T 

Tovar, A. R., 526W 

Towne, B., 2146T* 

Towne, C., 1729W, 3680W 

Townsend, A., 1840F, 

1846W 

Toy, T., 315 

Toyama, Y., 2287T 

Toyoada, A., 2835F 

Toyoda, C., 2559W 

Toyoda, H., 2496W 

Tozer, E., 3698W 

Trabetti, E., 2548T, 2659T 

Trabzuni, D., 374, 564W 

Trachtenberg, E., 1589T 

Tracy, K. L., 1856F 

Tracy, R. P., 170, 1408F 

Traeger-Synodinos, J., 

2995T 

Tragante, V., 1606T 

Tragante do O., V., 1659T* 

Trager, E., 2135F 

Trainer, A. H., 1224W 

Tran, A. N., 1126T 

Tran, B., 135 

Tran, C. K., 1691T 

Tran, K., 532W 

Tran, N., 2262W, 2320T, 

2343W, 2661W 

Tran, N. H., 1998W, 1999T 

Tran, P., 3694W 

Tran, T., 688T 

Tranah, G. J., 2375F 

Tran Mau-Them, F., 3166F 

Tran-Viet, K., 2328W, 3521T 

Traupe, H., 2160W, 2869W 

Trautmann, U., 2356T 

Travaglini, L., 943W, 2777T 

Traylor, M., 1313W* 

Traynor, B. J., 2611T, 2648F 

Treacy, R., 1257W 

Treadwell, M., 145, 1810F 

Trebušak Podkrajšek, K., 

2688F, 2710W* 

Trecroci, F., 2597F* 

Trede, N., 365 

Treff, N., 2968T 

Treff, N. R., 2999T* 


Tregidgo, C., 3694W 

Treherne, A., 766W* 

Treloar, S. A., 2056T, 2133W 

Trembath, R. C., 154, 

1927T, 2804T, 2896W, 

2925F 

Trembath, R. T., 780W 

Trenkwalder, C., 2568W 

Trent, J. M., 1186T, 1240T 

Treskes, M., 2205W 

Tretli, S., 991T 

Trevisan, C. P., 1776W 

Triche, E., 76 

Trifiro, M., 398 

Triggs-Raine, B., 2772F 

Trimble, V., 2283W 

Trindade-Filho, A., 3261T 

Trinh, C., 532W 

Trinh, J., 346, 2537F* 

Trinh, Q., 1093T 

Trinh, X. M., 1998W 

Trinidad, S. B., 1828F 

Trip, M. D., 1604T 

Tripodis, Y., 2488T 

Tristán, A., 2578T 

Trivellin, G., 2708T 

Troakes, C., 3471T, 3476T 

Troge, J., 2587T 

Trojanowski, J., 2538W 

Tromp, G., 1447F 

Trompet, S., 109 

Troncoso, J. C., 2648F 

Trost, J., 1021T 

Trost, M., 1545T*, 3664W 

Trost, M. K., 276 

Troup, C., 3690W 

Troyanskaya, O. G., 1501F 

Troyer, D., 2717T 

Trubetskoy, V. V., 1495F* 

Trucco, G., 993W 

Truitt, B., 1295W, 2020T 

Trujillano, D., 2303F, 2593T* 

Trujillo, A. M., 3499T 

Trujillo, C., 222 

Trujillo, I., 3504T* 

Trump, D. L., 3428T 

Tryka, K. A., 1566T 

Trynka, G., 155, 461F, 

1330F, 1907F, 2088W 

TSA Consortium for 

Genetics, The 

International OCD 

Foundation Genetics 

Collaborative, 3540W 

Tsafantakis, E., 2044T, 3396T 

Tsai, A., 905W* 

Tsai, A. C.-H., 432W, 898T 

Tsai, E. A.-L., 2316W* 

Tsai, H., 2571W, 3026T* 

Tsai, M., 2606F, 3376F* 

Tsai, P., 511F 

Tsai, P.-T., 1955F 

Tsai, Y., 989F 

Tsai, Y. Y., 1156T 

TSAICG, 1480F 

TSAICG, IOCFGC, TS GWAS 


Tsakok, T., 2138F 

Tsalamlal, A., 29 

Tsalenko, A., 3588W* 


Tsaliki, E., 3017T 

Tsan, M., 3697F 

Tsang, K. M., 2421W* 

Tsang, M., 3238F* 

Tsang, P., 975W 

Tsang, S. H., Session 78, 

393 

Tsao, B. P., 1979F, 2046W 

Tsao, D., 3522T 

Tsao, J. W., 2702T 

Tsao, M.-S., 1108T 

Tsaprouni, L., 583F, 3453T 

TSB LifeTech Consortium, 

133 

Tsernikova, N., 1308T, 

2076W 

Tsetskhladze, Z., 309* 

Tsilidis, K. K., 109, 1390F 

Tsimiklis, H., 1213T 

Tsironi, E. E., 385, 1305T 

Tsitlaidou, M., 1228T 

’t Slot, R., 400 

Tso, S.-C., 2742F 

Tsoi, L. C., 154*, 1952F 

Tsongalis, G., 3465T 

Tsoutsman, T., 1664T 

Tsuda, K., 548W, 558W 

Tsui, E., 1034F 

Tsuji, S., 52, 233, 2349W, 

2409W, 2569T 

Tsukahara, M., 2758W 

Tsukahara, S., 1980W 

Tsukikawa, M., 534W, 

2943F 

Tsuneda, S. S., 2876T 

Tsunemi, T., 565F*, 2456F 

Tsung, E., 3670W 

Tsunoda, T., 396, 1552F, 

1631T, 1643T, 2004W, 

2051F, 2071T, 2174F, 

3565F 

Tsuruda, L., 763W, 784W 

Tsurusaki, Y., 2822T, 2878W 

Tsz-Wai Pang, R., 2796F 

Tu, W., 1969T 

Tucker, M., 1012T, 1160F, 

1517W 

Tucker, M. A., 30, 1010F, 

1218W 

Tufano, J. T., 1828F 

Tuff, J. F., 490W* 

Tufik, S., 2592W 

Tuggle, C. K., 2717T 

Tukiainen, T., 656T, 2173T* 

Tully, R., 3582W, 3625F 

Tully, R. E., 3732W 

Tumini, S., 2777T 

Tumino, R., 1712T 

Tunca, Y., 590W 

Tuncer, F. N., 2396F*, 

2412W 

Tung, J., 1514W 

Tung, J. Y., 106, 114, 626T, 

1017W, 1782W, 1838F*, 

2089T, 2100W, 2111F, 

2115W, 2127W, 2149T 

Tuomilehto, J., 1608T 

Tupler, R., 1776W 

Turbon, D., 3364F 

Turbón, D., 3402T 

Turecek, F., 727F 

Turecki, G., 2338T, 2482T, 

3470T 

Turk, W., 3276T 

Turnbull, C., 213 

Turner, A., 1645T*, 1774W 

Turner, B., 3528W 

Turner, C., 2935W 

Turner, C. L. S., 217 

Turner, E., 10, 2740W 

Turner, E. H., 170 

Turner, I., 3279T 

Turner, I. H. C., 472W* 

Turner, K., 935W 

Turner, S., 3228F 

Turner, T., 13* 

Turnherr, S., 415F 

Turnpenny, P., 2935W 

Tursi, R. M., 2572T 

Turunen, U., 2023T 

Tuschl, K., 167* 

Tusie-Luna, T., 2256W 

Tuulio-Henriksson, A., 252 

Tüysüz, B., 3132F* 

Tuzov, N., 1562W* 

Tuzovic, L., 3046F* 

Tweddale, B., 2785W, 

2892F, 2904F 

Twigg, S. R., 219 

Twigg, S. R. F., 218*, 2746W 

Tybjærg-Hansen, A., 

Session 21 

Tylavsky, F. A., 3480T 

Tyler, R. C., 2903T 

Tyler, S., 490W 

Tyler-Smith, C., 41, 3322F, 

3377W 

Tymrakiewicz, M., 205, 

1011W 

Tynan, J., 2973T, 3023T 

Tyndale, R. F., 642T 

Tynninen, O., 1253F 

Tyrer, J., 210 

Tyrrell, J., 2148W 

Tyynismaa, H., 327 

Tzadok, M., 660T 

Tzeng, J., 1538W* 

Tzeng, J. Y., 1350T 

Tzetis, M., 2995T 

Tziotzios, C., 33 

Tzoulis, C., 2451W 

U 

U., L., 3395W, 3397W 

Uda, M., 110, 113, 847F, 

2001W 

Udagawa, Y., 475F 

Udar, N., 1176W, 1963T, 

3686W* 

Udd, B., 2945T 

Uddin, M., 435F, 448W, 

454W* 

Udelsman, R., 1241F 

Udpa, N., 1471F*, 3307F 

Uebe, S., 2160W, 2557T 

Uebelhoer, M., 1611T* 

Ueffing, M., 86 

Uehara, D. T., 891W, 914T 



Uehara, N., 2873T 

Ueki, M., 1549F 

Ueno, M., 2129F 

Ueno, Y., 1549F 

Ugolini, D., 1153T 

Ugur Iseri, S. A., 2396F, 

2412W 

Uher, R., 2509T 

Uhl, G., 2541W* 

Uhlhaas, S., 1005W 

Uhlmann, W. R., 317 

Uhrich, S., 668T 

Uicab-Pool, G., 2272T 

Uitterlinden, A., 2366F, 

3608W 

Uitterlinden, A. G., 87, 109, 

431F, 584W, 1284T, 

1334W, 1503T, 1659T, 

2053T, 2081F, 2105F, 

2141F, 2165F, 2169W 

UK10K, 809F 

UK10K, UKIBDGC, 354 

UK10K Cohorts Goup, 

1411F 

UK10K Consortium, 45, 

216, 1518T, 2812W 

UK10K Consortium Cohorts 

Group, 1522F, 3645F 

UK10K Statistics Group, 

2304W 

UK Brain Expression 


UK Genetics Prostate Cancer 

Study Collaborators, 

PRACTICAL Consortium, 

1011W 

Ukkola-Vuoti, L., 2181W 

UK PBC Consortium and 


Control Consortium 3, 

153 

Ukraintseva, S., 2027F*, 

2194T 

Ulivi, S., 1484W, 2128T 

Ullmann, R., 2732T 

Ullmer, B., 3270T 

Ulloa, R., 57 

Ullrich, N., 3177W 

Ulmer, M., 386*, 2135F 

Ulz, P., 1115F 

Um, S., 1591T 

Umana, L. A., 1646T* 

Umar, M., 1137W* 

Umbach, D. M., 1416T 

Umbarger, M., 1729W, 

3680W 

Umbarger, M. A., 3640W, 

3693F* 

Umekage, T., 2370W 

Umeno, J., 2174F 

Umesh, A., 1190F 

Umicevic Mirkov, M., 621T* 

Underhill, H. R., 2530T* 

Underhill, P., 3321T 

Underhill, P. A., 186, 3368W 

Undlien, D. E., 3510T, 

3614W 

Unger, S., 129, 3075W 

Unique Rare Chromosome 

Support, 66 


United Kingdom and 

Ireland Renal Transplant 

Consortium, the 

Wellcome Trust 

Case-Control 

Consortium 3, 2082W 

Uno, S., 2133W 

Unutmaz, D., 713F 

Upadhyay, R., 1137W 

Uppal, S. S., 2267F 

Upsall, E., 3695F 

Upton, S., 3176F 

Urano, F., 2472W 

Urano, W., 2032T 

Urban, A., 551F, 579F, 2372F 

Urban, A. E., 334*, 369, 

425F, 3658W 

Urban, Z., 129, 820F*, 

2761W 

Urbanek, M., 2327F 

Urdal, P., 643T 

Urnov, F. D., 255, 803W 

Uro-Coste, E., 2945T 

Urquhart, J., 2852T 

Urraca, N., 3119W* 

Urru, M., 113, 177 

Urru, M. F., 1451W, 1516F 

Ursini, M. V., 505F, 2629T 

Urtatiz, O., 3225W* 

Usala, G., 2001W 

Useche, F., 3459T 

Usher-Ridge, B., 1785W 

Utami, K. H., 3047W* 

Utiramerur, S., 1232F, 

3670W 

Utsumi, Y., 663F 

Utz, J., 1855F* 

Uwineza, A., 3104F* 

Uyama, E., 2409W 

Uyar Bozkurt, S., 2429F 

Uyenoyama, M., 3392T* 

Uyguner, O., 1 

Uysal, H., 2924T 

Uzumcu, A., 1 

Uzun, A., 76*, 3024T 

V 

Vaags, A., 2525F 

Vaags, A. K., 2575T, 3086F 

Vaccargiu, S., 2128T 

Vaccarino, F., 334 

Vaché, C., 2947W 

Vachin, P., 72 

Vachon, C., 1150T 

Vacic, V., 3346F 

Vadapalli, A., 971W* 

Vadasz, E., 2414F, 2654F 

Vadlamudi, S., 1627T, 

2012F 

Værum, M., 3641F, 3662W 

Vago, P., 894T 

Vaidla, K., 1140W 

Vaidya, D., 1652T, 1710T* 

Vaidya, S., 1234T* 

Vaidyanathan, R., 585F*, 

3718W 

Vainzof, M., 1727W 

Vairo, F., 696T* 

Vairo, F. P., 1217F 

Vaitsiakhovich, T., 1332T 

Vakil, H., 130 

Valabregue, R., 2539T 

Valdes, A., 2292W 

Valdes, A. M., 2171F, 

2341T* 

Valdés-Mas, R., 2578T 

Valente, A. L., 1002W* 

Valente, E. M., 943W, 2777T 

Valentini, M., 157, 1516F 

Valenzano, K. J., 732T 

Valenzuela, I., 2930T, 3208F 

Väliaho, J., 496W 

Valladares, O., 342, 2316W 

Vallance, H., 750T 

Vallant, E., 3116F 

Vallat, J. M., 328 

Valle, A. C., 2655W 

Valle, D., Session 28, 

Session 74, 227, 520W, 

2387F, 2461T, 2486F, 

2566T, 2573F, 3131W 

Vallender, E., 595F 

Valles-Ayoub, Y., 682T 

Vallier, L., 3507T 

Valsesia, A., 84 

Valverde, K., 1781W 

van Aalst, J., 2756T 

Vanakker, O., 128, 129, 423F 

Vanakker, O. M., 833F, 

1790W, 3137W* 

van Amstel, J. K. P., 2886F* 

van Asperen, C. J., 27 

Vanasse, M., 2900T 

van Attikum, H., 27 

Van Baaren, J. M., 588W 

van Beek, R., 955W, 979W 

van Beelen, E., 58 

van Bers, M., 58 

van Beusekom, E., 214 

van Bever, Y., 980T 

Van Binsbergen, E., 423F 

van Bokhoven, H., 100, 102, 

125, 160, 214, 2863W 

van Bon, B. W. M., 97, 100, 

103, 124, 125 

Van Booven, D., 9, 3706W 

Van Broeckhoven, C., 2815W 

van Buggenhout, G., 925W 

Van Camp, G., 59, 2104T 

Van Cauwenbergh, C., 539F 

Vance, D. D., 2185T* 

Vance, J., 492W, 2603F*, 

2668W, 2755W 

Vance, J. M., 270, 347, 

588W, 1871F, 2185T, 

2330F, 2470T 

van Dam, R., 2358W 

Van Dam, R., 2165F 

Van Damme, P., 201, 2948T 

Van Damme, T., 129 

van de Bunt, M., 2324F 

Van de Heyning, P. H., 

2104T 

van de Kamp, J., 98 

van de Laar, M. A. F., 621T 

van den Akker, E. B., 

1436W* 

van den Akker, W. M., 160 

Van den Berg, L. H., 431F 

Vandenberg, M., 2805F 

van den Berg, M. P., 1619T 

van den Bergen, J. C., 

574W 

van den Boogaard, M. J., 

2886F 

van den Boom, D., 2973T, 

3014T, 3016T, 3023T 

van den Bosch, B., 708T 

van den Bree, M. B., 2405F 

van den Broek, S., 1117T 

Van Den Eeden, S., 96 

van den Eijnde, R., 574W 

van den Elzen, C., 214 

van den Ende, J., 3193W* 

van den Heuvel, L., 2909T 

van den Linden, H., 2642F 

van den Oord, E. J. C. G., 

3442T, 3452T 

Van den Veyver, I. B., 2802F, 

3495T 

Van den Wijngaard, A., 

1711T, 3650W 

Van der Aa, N., 127, 423F, 

2527T, 2757F, 3193W 

van der Brug, M., 1539T 

van der Burgt, I., 215 

van der Harst, P., 110, 383, 

609T, 1659T, 2175W 

van der Heyden, M. A. G., 

217 

Vander Horn, P., 3698W 

van de Rijn, M., 1054T 

van der Klauw, M. M., 

2282F 

van der Laan, M., 1415W 

van der Maarel, S., 2840T* 

van der Maarel, S. M., 55, 

542W 

Van der Merwe, L., 3385F 

van der Merwe, L., 2007W, 

2217W 

van der Most, P. J., 2282F 

van der Schouw, Y. T., 

1659T 

van der Smagt, J. J., 217 

van der Stoep, N., 3650W* 

van der Valk, R. J. P., 2168F* 

van der Veken, L. T., 3164F* 

van der Velde-Visser, S., 

160 

Vanderver, A., 2452T, 

2786T*, 2797W 

van der Vleuten, C. J., 83 

van der Vliet, P. J., 55 

van der Voorn, 3200F 

van der Zee, J., 2815W* 

van der Zwaag, B., 2848W, 

3650W 

van der Zwan, Y., 1122W 

van de Vondervoort, I., 

100, 160 

van de Warrenburg, B. P., 160 

van de Warrenburg, B. P. C., 

1734W 

Vandeweyer, G., 1617T 

van de Zwan, Y., 1273T 

van Diemen, C. C., 1330F 

Van Dijck, P., 2948T

van Dijk, F., 459F 

Van Driest, S. L., 247*, 631T 

Vandrovcova, J., 1618T* 

van Duijn, C., Session 27, 

1592T, 2080T, 2107T 

van Duijn, C. M., 2175W, 

2193W, 2366F 

van Eerde, A. M., 2848W 

Van Eijk, K. R., 431F, 

2553W*, 3474T 

van Engelen, B., 2840T 

VanErp, T., 2564F 

van Erp, T. G. M., 2469W* 

Van Essen, T., 127 

Van Eyk, J., 80 

Vangapandu, V., 2979T 

van Gassen, K. L. I., 1220F 

van Gessel, S., 979W 

van Gessel, S. L. J., 955W 

Van Ghelue, M., 2965W* 

van Gilst, W. H., 609T, 

2175W 

Vangipuram, M., 803W 

Van Goor, F., 1731W 

van Haaften, G., 217*, 

2886F 

van Haelst, M. M., 217, 

2886F 

van Haren, N. E. M., 2526W 

van Harssel, J. J. T., 217 

van Hasselt, P., 672T 

van Heel, D., 155 

van Heel, D. A., 1330F 

van Helden, P., 2003F 

van Helden, P. D., 2007W 

van Heumen, C., 3159W 

Van Hirtum-Das, M., 1721W 

van Hooft, P., 3316F 

Van Hout, C. V., 3269W* 

Vanhoutte, L., 2225F 

Vanhove, C., 2225F 

Van Hove, J. L., 2884W 

Van Hul, E., 2757F 

van Iperen, E. P. A., 1604T*, 

1606T 

Vanita, V., 1342F, 1890W, 

1891T, 2726T, 2730F, 

2735T, 2737W 

Van Itallie, C. M., 2663T 

van Karnebeek, C., 750T, 

756W* 

van Klinken, J., 2107T 

van Kogelenberg, M., 101, 

291, 364* 

van Koningsbruggen, S., 

681F* 

Van Laarhoven, P., 819F* 

Van Laer, L., 79, 80, 1617T* 

Van Laere, K., 2527T 

Van Langenhove, T., 2815W 

van Lieshout, S., 217, 400, 

2886F 

VanLoy, C., 1237T 

Van Luchene, R., 3007T 

Van Maldergem, L., 129, 

3165W*, 3199W 

van Marrewijk, C. J., 243 

van Meurs, J. B. J., 584W, 

1284T, 1334W, 1503T 

Vannier, A., 2877F, 2937F 


Van Oers, N., 2949F 

van Ommen, G., 582W 

van Ommen, G. J., 567F 

van Rahden, V., 2810T 

Van Ravenswaaij, C., 

65, 124 

van Reeuwijk, J., 214 

van Riel, P. C. L., 621T 

van Rooij, F. J. A., 111, 

2073W 

van Rooij, J., 3608W 

van Slegtenhorst, M., 

3650W 

van Spaendonck-Zwarts, K. 

Y., 1619T, 2909T 

van ’t Hof, F. N. G., 87* 

Van Til, N., 796W 

van Tintelen, J. P., 1619T, 

2909T 

van Trotsenburg, A. S. P., 

2701W 

van Tuil, M., 2886F 

van Vliet-Ostaptchouk, J., 

2282F* 

Vanwijck, R., 2002T 

van Wyk, C., 1794W 

van Zutven, L. J. C. M., 980T 

van Zuydam, N. R., 609T 

van Zwet, E. W., 1436W 

van Zyl, S., 1085F 

Varadan, V., 3316F 

Vardarajan, B., 343, 1476T* 

Vardarajan, B. N., 2563T 

Varga, R. E., 2930T 

Vargas, E., 3290W 

Vargas, F. R., 2642F 

Vargas, G., 1119W 

Varilo, T., 252, 897W 

Varley, K. E., 1245W, 3527F, 

3687F 

Varma, R., 2153F 

Varner, M., 1904F 

Varret, M., 1607T* 

Varvil, T., 2397W 

Vasan, R. S., 1677T, 2080T 

Vaschalde, Y., 345 

Vasco, D. A., 3326W* 

Vasconcellos, J. F., 2655W 

Vasconcellos, J. P. C., 

2286W, 2291F 

Vasenkova, I. A., 1245W, 

3687F* 

Vasey, S., 630T 

Vasishta, R., 802W 

Vasli, N., 2681T 

Vasquez, L., 2974T 

Vasseur, C., 1768W* 

Vassilev, L., 242 

Vasta, V., 688T 

Vasudevan, R., 1083W 

Vatanavicharn, N., 712T 

Vats, S., 1703T* 

Vatta, M., 314, 1735W, 

1742W, 1761W 

Vattathil, S., 1041W, 1258T* 

Vaughan, B., 3636W 

Vaughan, T. L., 2190W 

Vaughn, C. B., 1086W* 

Vaula, G., 550W 

Vaur, D., 32 


Vawter, M. P., 2459F, 

2469W, 2564F, 3587F 

Vaysse, A., 1158W, 2079W, 

2248T 

Vaz, F., 672T 

Vazquez, A. I., 2201F 

Vear, S., 247 

Veatch, O. J., 15* 

Veble, A., 3001T 

Vecchio-Pagán, B., 1450F 

Vece, T. J., 2883F 

Vedantam, S., 108, 2090F, 

2241W 

Vedes, J., 1977W 

Vedrenne, V., 329* 

Veenma, D., 834F 

Veeramah, K. R., 2788W*, 

3354T 

Vega, J. N., 2401T* 

Veillet, J., 54 

Vekemans, M., 77, 403, 

915W, 3172F, 3240F 

Velagaleti, G., 868T* 

Velasco, H., 703F*, 3069W, 

3190F 

Velazquez-Hernandez, N., 

1121F 

Velázquez-Pérez, L., 3124F 

Velders, F., 2164T 

Veldink, J. H., 431F 

Veleri, S., 824F*, 827F 

Velez Edwards, D. R., 

2131T, 3299W 

Velez-Ruiz, G., 2470T 

Velissariou, V., 3017T 

Velsher, L., 320, 1872F, 

1873F 

Veltman, I., 216 

Veltman, J., Session 73 

Veltman, J. A., 58, 97, 100, 

102, 160, 214, 672T, 

1749W 

Venâncio, M., 3019T 

Venceslá, A., 987W 

Venditti, C. P., 664T, 669F, 

674T, 721F, 738T, 2683W 

Venegas, A., 951W, 3074F 

Venegas, V., 1251W, 3648W 

Venema, A., 542W 

Venkat, A., 285 

Venkatesan, S., 1456F 

Venkateswara Rao, A., 224 

Venn, O., 285, 3279T* 

Vennemann, M., 86 

Venselaar, H., 215, 217 

Venter, P. A., 1085F 

Ventura, A., Session 76 

Ventura, M., 74, 94 

Venturini, C., 335, 2068T 

Vepsäläinen, S., 2348F 

Vera, M., 697F*, 734T 

Verbeek, A. L. M., 243 

VerBerkmoes, N., 2826F 

Verbitsky, M., 845F 

Vercelli, L., 1776W 

Verchere, C., 3006T 

Verdin, H., 2832F, 2927T* 

Verdu, P., 3351T 

Vergara, C., 1900T 

Vergara, C. I., 2043W* 

Vergin, C., 2719W 

Vergult, S., 98, 423F* 

Verheijen, F. W., 405 

Verhoeven, A., 2107T 

Verioes, A., 2887W 

Verkarre, V., 1212W 

Verloes, A., 124*, 127, 218, 

901W 

Verma, A., 1316W 

Verma, I. C., 1720W, 1877F, 

2754F, 3236F 

Verma, J., 1720W 

Verma, S., 440W 

Vermaas, E., 3694W 

Vermaat, M., 3586W, 3611F 

Vermeer, S., 160, 1734W 

Vermeesch, J., 894T 

Vermeire, S., 2319W 

Vermeulen, S. H., 87, 106, 

243, 621T 

Vernalis, M. N., 1649T 

Vernet, G., 2255F 

Vernon, H., 2915T 

Vernon-Smith, A., 109 

Vernot, B., 283 

Verrow, S., 3654W 

Verschuuren, J. J. G. M., 

574W 

Verstuyft, C., 609T 

Verwaijen, P., 681F 

Verweij, N., 110 

Verwer, L., 98 

Vesa, J., 3144F 

Vestbo, J., 2249F 

Vester, A., 2470T 

Vetrini, F., 735F 

Vezain, M., 32 

Vézina, H., 1478W 

Vial, C., 1658T, 2065T* 

Vialard, F., 890T* 

Viale, A., 998F, 1159T 

Viali, S., 2159F 

Viana, J., 3476T 

Viana, M. M., 3107W, 

3110F* 

Vianna, G. S., 2434T 

Vianna-Morgante, A. M., 

874T, 882T, 2863W, 

3250F 

Viatte, S., 2231F 

Vicari, S., 84, 3087W 

Vicente, A. M., 1968W, 

2017T, 2261F, 2417F, 

2502W 

Vidal, H., 2278T 

Vidal, M., 2660F 

Vidal, R., 394, 1207T, 

1215W* 

Vidal, V., 1204T 

Vieira, A. R., 1315F, 1936T 

Vieira, F., 3312T 

Vieira, F. G., 3289F* 

Vieira, M. L., 2288F 

Vieira, T., 1851F*, 1865F* 

Vieira, T. P., 959W 

Vieland, V. J., 2181W, 

2467T, 2523W* 

Vierkant, R. A., 3451T 

Vigeland, M., 1547W* 

Vigneron, J., 2770W 



Vigouroux, A., 2957T 

Vigueras, R. M., 2365T 

Vihinen, M., 496W*, 992F, 

3610W 

Vihola, A., 2945T 

Viikari, J., 2097W, 2120F 

Viikari-Juntura, E., 2120F 

Vijai, J., 208, 1841W 

Vijayalakshmy, J., 911W 

Vijayarangakannan, P., 291, 

455F* 

Vijzelaar, R., 652T 

Vikkula, M., 83, 1015T, 

1611T, 2002T, 3156F 

Vikman, P., 47 

Vikram, N., 555F 

Vila, L. M., 1979F 

Vilain, E., 315, 361, 950T 

Vilar, M., 3373F 

Vilar, M. G., 3329W, 3377W 

Vilarino-Guell, C., 346*, 

2537F 

Vilboux, T., 3080F* 

Vilhelmsen, K., 363 

Vilhjalmsson, B., 350, 

1331W*, 1360F, 2199W, 

2210F 

Villa, E. C., 2495F 

Villamarin, R., 3625F 

Villamarin-Salomon, R., 

3582W 

Villani, A. C., 528W 

Villanueva, C., 2845W 

Villanueva Dávalos, V., 

2033F 

Villar, J., 2296T 

Villar, V., 245 

Villard, L., 2457W, 2536T, 

3165W 

Villarreal-Quiroga, P., 1030T 

Villarroel, C., 875W, 976T 

Ville, D., 2536T 

Ville, Y., 72, 77, 403 

Villela, D., 919W* 

Villems, R., 3286F 

Vilo, J., 1163F 

Vilske, S., 1006T 

Vimaleswaran, K. S., 271* 

Viñas, M., 2940F 

Vinasco, T., 3069W* 

Vincent, J., 2525F 

Vincent, J. B., 2398T, 

2570F*, 2575T 

Vincent, M., 1267T, 3121W* 

Vincent, Q., 1361W 

Vincenzi, O. C., 1037F, 

1038W* 

Vinci, M., 3114F 

Vinckenbosch, N., 3311W 

Vineis, P., 1712T 

Vinette, K. M., 2855T 

Vink, C., 3159W 

Vinkler, C., 3048F*, 3162F, 

3174F 

Vinod, B., 2113T 

Vinson, A., 2218T* 

Vinther-Jensen, T., 2765T 

Viñuela, A., 546W 

Viola, M., 2811F 

Viqaruddin, M., 3149W 


Virani, S., 1688T 

Virdis, F., 1516F 

Virmond, M. L. C., 2289W 

Virmouni, S., 761W 

Virtamo, J., 1012T, 1091F 

Visakorpi, T., 1000T 

Viscardi, R. M., 3027T 

Viscidi, R. P., 2561F 

Visel, A., 4, 254, 407 

Vishwabandya, A., 931W 

Visitacion, M., 3669F 

Visitacion, M. R., 3709F* 

Viskochil, D., 3177W 

Visscher, P., 1360F, 2090F, 

2200T 

Visscher, P. M., 108, 351, 

1331W, 2366F 

Visser, G., 681F 

Visser, J., 2165F 

Vissers, L. E. L. M., 97, 100, 

102, 160, 214, 215, 672T, 

1749W, 2925F 

Vista, E. S., 529F, 2188T 

Viswanathan, A. C., 2068T 

Viswanathan, K., 1901F 

Vitale, C., 1985F 

Vitale, E., 1985F*, 3492T 

Vitart, V., 1383T, 1481W 

Vite, C. H., 785W 

Vitello, A., 100 

Vitiello, G., 943W 

Vittori, A., 2641T* 

Vivekandandan, S., 3316F 

Vives, L., 10, 278 

Vlasschaert, M., 460W 

Vlassov, A. V., 3723F 

Vlummens, P., 129 

Vnencak-Jones, C. L., 136 

Vo, D., 585F, 893W 

Vockler, J. S., 3558W 

Vockley, J., 657F*, 662T, 

733F 

Voegele, C., 1213T 

Voelkerding, K. V., 2720T, 

2951T, 3638W, 3643F 

Voest, E., 400 

Vogel, I., 3148F 

Vogel, J., 506W 

Vogel, K. J., 1225T 

Vogel, M., 3650W 

Vogel, S. N., 3027T 

Vogel, T. W., 404 

Vogel, W., 1080W 

Voglino, F., 1153T, 1712T 

Vogt, G., 3599F 

Vogt, J., 939W, 2791W* 

Vogt, S., 1005W, 3109W 

Voight, B. F., Session 21 

Voinea, S., 1439W, 3678W 

Voineagu, I., 553F 

Voit, T., 2812W 

Volar, M., 1093T 

Volders, P. G. A., 1711T 

Völker, U., 275 

Völker-Albert, M. C., 27 

Vollenweider, P., 1281T, 

2165F 

Vollrath, D., 2154W, 2240F, 

2263T 

Volpi, E., 509F 

Volpini, V., 2627F* 

Volta, M., 3471T 

Völzke, H., 584W, 1954T, 

2123F, 2147F 

Von Allmen, G., 2395T 

von Dadelszen, P., 3429T, 

3445T 

Vondracek, P., 2812W 

VonHoldt, B., 2219F 

von Kleist-Retzow, J. C., 

2944W 

Von Kuster, G., 3545F 

Vonsattel, J. P., 2547W 

Vooder, T., 1163F 

Voorhees, J. J., 154, 1952F 

Voorhoeve, E., 98* 

Voorman, A., 174 

Vorgia, E., 218 

Vorstman, J. A. S., 431F 

Vos, Y. J., 1619T* 

Võsa, U., 1163F 

Vosatka, A., 2220W 

Voshol, P., 2701W 

Voss, K., 383 

Vrabec, K., 3381T 

Vranas, M., 2699T 

Vreeswijk, M. P. G., 27 

Vrettou, C., 2995T 

Vrielynck, P., 3218F 

Vriend, G., 217 

Vrieze, S., 1568W 

Vrijenhoek, T., 1870F* 

Vrints, C., 1617T 

Vu, A., 1147T 

Vu, B. J., 803W 

Vu, T., 14, 1716W 

Vuillaume, M. L., 473F 

Vuillemenot, B., 784W* 

Vuillot, A., 126 

Vulto-van Silfhout, A. T., 97, 

100, 125*, 160 

Vyhlidal, C., 811F 

Vyse, T. J., 306, 2005T, 

2046W, 3382F 

W 

Wachihi, C., 3276T 

Wacholder, S., 1413T 

Wacklin, P., 2023T 

Wada, T., 2836W* 

Waddell, L. B., 295 

Wade, K. H., 1626T* 

Wadelius, C., 617T, 619T 

Wadelius, M., 617T, 619T 

Waeber, G., 1281T 

Waetjen, L. E., 2360F 

Wafa, A., 1922F 

Waffern, F., 3076F 

Wagemaker, G., 796W 

Wagenknecht, L. E., 1661T, 

2275T 

Waggoner, D. J., 3398T 

Wagman, C., 2007W 

Wagner, E., 1098W*, 1969T 

Wagner, J., 1850W* 

Wagner, J. K., 2223W 

Wagner, K., 3116F 

Wagner, K. R., 2962W 

Wagner, M., 2143T 

Wagner, P., 638T 

Wahl, C., 2965W 

Wahlberg, P., 3427T* 

Wahlfors, T., 995F, 1000T, 

1302T 

Wahlgren, C. F., 1939T 

Wahren-Herlenius, M., 2084F 

Waide, E. H., 2717T 

Wain, K. E., 1058F 

Wainstein, T., 1794W* 

Waisfisz, Q., 3200F, 3650W 

Waite, L., 434W, 1608T, 

3443T 

Wakabayashi, Y., 586W* 

Wakahiro, M., 196, 2389T 

Wakamatsu, N., 2748F 

Wakefield, D. B., 3449T 

Wakefield, J., 294 

Wakefield, S., 658T 

Wakelam, M. J. O., 33 

Wakeland, B., 1901F, 2949F 

Wakeland, E., 2284T*, 

2949F 

Wakeland, E. K., 1901F 

Walcott, F., 1064F 

Walczak, A., 597F 

Waldan, I., 1498F 

Waldek, S., 772W 

Waldispuehl-Geigl, J., 

1115F 

Waldman, I. D., 2515T* 

Wali, N., 37 

Walia, A., 3370F 

Walia, A. T., 3329W 

Walia, G. K., 3455T 

Walker, C., 940T*, 3479T 

Walker, D., 2516F 

Walker, D. L., 605T 

Walker, H., 953W 

Walker, J. A., 3270T 

Walker, M., 1624T, 2116T, 

3455T 

Walker, N., 453F 

Walker, R., 374, 564W 

Walker, S., 175*, 2575T, 

2617T, 2620T 

Wall, J., 285 

Wall, J. D., 3354T 

Wall, S. A., 218, 2151W 

Wallace, A., 2054F 

Wallace, D., Session 56 

Wallace, D. C., 3653F 

Wallace, J., 1667T, 3542W 

Wallace, J. R., 3624W 

Wallace, M., 1261T 

Wallace, P. K., 3523T 

Wallace, R., 2020T 

Wallaschofski, H., 275, 

2080T 

Wallenhorst, E., 953W 

Wallentin, L., 617T, 619T 

Waller, K., 1736W 

Walley, K. R., 1632T 

Wallum, H., 2509T 

Walrafen, P., 3522T 

Walsh, C. A., 8, 266, 452W, 

2613W 

Walsh, D., 2500T, 2504F, 

2594F, 2599T

Walsh, J., 1216T 

Walsh, M., 889W 

Walsh, T., 26, 263, 287, 

1089W, 1226F*, 1228T, 

2600F, 2756T, 2929W 

Walston, J., 1920W 

Walter, K., 61, 1518T 

Walter, L., 96, 112, 118, 

230, 620T, 2513F 

Walter, M., 236, 575F, 

1200W 

Walter, M. A., 1951T 

Walter, M. C., 2961F 

Walter, P. J., 1398T* 

Walters, K. A., 2523W 

Walters, L., 456W* 

Walters, N., 506W 

Walters, R., 1067F 

Walther, D., 2541W 

Walther, S., 140 

Walton, K., 32 

Walz, K., 794W, 2672T, 

2837T* 

Wambebe, C., 3303T, 

3338W 

Wan, E., 2057F, 2249F 

Wan, J., 2511W 

Wan, W., 3495T 

Wanamaker, S. A., 2660F 

Wand, G. S., 2391W 

Wanderley, H. Y., 2642F 

Wang, A., 3213W 

Wang, B., 462W, 519F, 

616T, 2203T, 3620W 

Wang, B.-J., 3029T 

Wang, C., 398, 864T, 

1010F, 1112F, 1170W, 

1218W 

Wang, C. C., 3379F 

Wang, D., 1591T, 2221T, 

2251T, 3428T, 3485T* 

Wang, D. Y., 1887W 

Wang, E., Session 24 

Wang, E., 2978T 

Wang, F., 457F, 1779W*, 

1974W, 1997F, 2252F, 

2623T, 2721F, 2910F, 

3684W 

Wang, G., 19, 93, 1369F, 

1554T*, 2028W, 2318F, 

2337W, 3026T 

Wang, G. L., 1974W 

Wang, G.-L., 457F 

Wang, G. T., 2336F 

Wang, H., 255, 458W*, 

511F, 1472W, 1779W, 

1905W, 2910F, 2921T 

Wang, H. M., 2245T* 

Wang, I., 544W* 

Wang, I. X., 370 

Wang, J., 159, 462W, 

480W, 503F, 683F*, 

962T*, 1235F, 1369F, 

1578T*, 1650T, 1685T*, 

1750W, 2184W, 2311T, 

2317T, 2347T, 2390F, 

2452T, 2582F, 2617T, 

3168F, 3237W*, 3300T, 

3311W, 3334F, 3428T, 

3561F 


Wang, J. C., 3416T 

Wang, J.-H., 457F*, 

2623T 

Wang, J. H., 1974W 

Wang, J. J., 2094W 

Wang, J. M., 462W 

Wang, K., 1889F, 2872W, 

3415T, 3532W, 3561F, 

3660W 

Wang, L., 116, 123, 347, 

492W*, 603T, 1010F, 

1218W, 1247F, 1291F, 

1635T, 1638T, 1974W, 

2185T, 2259W, 2583W, 

2603F 

Wang, L. L., 1034F 

Wang, L.-S., 342*, 343, 

2316W 

Wang, L. S., 1571W 

Wang, M., 314, 1292W, 

1735W, 1742W, 1757W, 

1761W, 2331W, 2617T, 

2880F, 2934F, 3308W* 

Wang, M. H., 1466W* 

Wang, M. Q., 1910F 

Wang, M.-S., 457F 

Wang, P., 1499W* 

Wang, P. H., 3730W 

Wang, Q., 206, 308, 2114F, 

2170T, 2494T, 3000T*, 

3582W, 3620W 

Wang, R., 1359T, 2461T, 

2486F, 2573F, 2895F 

Wang, S., 549F*, 566W, 

1417F, 1666T, 2388W, 

2390F, 2574W*, 3358F 

Wang, S.-N., 3029T 

Wang, S. R., 1960T* 

Wang, T., 889W, 1333F, 

1494T, 1608T, 2566T, 

2661W, 2806W*, 3016T, 

3097W, 3474T 

Wang, W., 319, 1555F, 

2229W, 3561F, 3589F*, 

3691F 

Wang, X., 207, 257*, 909W, 

1219T, 1367W*, 1418W*, 

1460W, 1464T, 1474F, 

1672T, 1673T, 1774W*, 

2034W, 2099F, 2125T, 

2142W, 2156F*, 2158T, 

2178W, 2189F, 2521T, 

2802F, 2834T, 2880F, 

2921T, 3026T, 3078F, 

3418T, 3486T*, 3619F*, 

3652W 

Wang, X. B., 1647T* 

Wang, X. T., 3416T 

Wang, X.-W., 457F, 2623T 

Wang, Y., 133, 507F, 

511F*, 657F, 864T*, 

1004F, 1146W, 1291F, 

1986W, 2279F, 2280W, 

2357F*, 2511W, 2617T, 

2721F, 3029T, 3081W*, 

3311W, 3317W, 3355F, 

3493T 

Wang, Y.-H., 2824W 

Wang, Y. P., 2053T 

Wang, Y. S., 972T*, 1586T 


Wang, Z., 213, 245, 519F*, 

616T, 1010F, 1088F, 

1160F*, 1259F*, 1420F*, 

2587T, 2819T, 3657F* 

Wang, Z.-G., 457F 

Wang, Z. G., 2985T* 

Wang-Sattler, R., 2226W, 

2548T 

Waqar, F., 1673T 

Warburton, D., 957W, 

1600T* 

Warby, S., 2543F* 

Ward, E., 3113W 

Ward, L., 1216T 

Ward, L. D., 3291T* 

Ward, M., 3625F 

Ward, M. H., 3582W 

Ward, P., 1742W 

Ward, P. A., 1735W, 1761W 

Ward-Caviness, C. K., 

1636T* 

Ware, R. E., 648T, 2331W 

Ware, S., 1674T, 2698W 

Wareham, N. J., 43, 1553W, 

1626T, 1686T, 2282F, 

2359T 

Warman Chardon, J., 198* 

Warner, A., 249 

Warner, J., 549F 

Warner, N., 1320T 

Warnich, L., 644T 

Warnke, A., 1976F 

Warraich, S., 2816T 

Warram, J. H., 2313W 

Warren, L., 1686T 

Warren, P., 2904F 

Warren, R., 2217W 

Warren, R. L., 375 

Warren, S., 540W, 2464T 

Warren, S. T., 2576F 

Warren, W., 2262W, 2320T*, 

2343W 

Warrington, N., 2164T 

Warrington, N. M., 2162F 

Wary, C., 2539T 

Washington, A. V., 3315T 

Wassel, C. L., 170, 1661T 

Wasserscheid, J., 2262W 

Wasserstein, M. P., 958T 

Wassif, C. A., 162* 

Wassink, T., 2493W 

Wassink, T. H., 422W* 

Wasson, K., 1822F* 

Waszak, S., 415F, 551F 

Wat, J. J., 834F 

Wat, M., 839F 

Wat, M. J., 834F 

Watanabe, A., 1697T*, 

2400W 

Watanabe, H., 3221W 

Watanabe, R., 1362T 

Watanabe, R. M., 46 

Watanabe, Y., 724T*, 842F*, 

2727F 

Watanabe-Makino, K., 396 

Waterham, H. R., 681F 

Waters, A., 199 

Waters, C., 442W 

Waters, J. P., 2312F 

Waters, W., 978T 

Waterworth, D., 1686T* 

Waterworth, D. M., 649T 

Watkins, D., 673F, 705F, 

706T, 719F 

Watkins, H., 115 

Watkins, J. C., 3389W 

Watkins, L., 3644W* 

Watkins, W. S., 195, 600F, 

3378T 

Watman, N., 773W 

Watrin, E., 2958F 

Watrin, F., 2457W 

Watson, C. T., 375 

Watson, H., 2043W 

Watson, M., 3530W 

Watson, R., 83 

Watson, S. J., 2163W 

Watt, G., 1626T 

Watt, J., 967W 

Watt, S., 135 

Wattanasirichaigoon, D., 

2755W, 2918T 

Watts, A. C., 287, 2600F* 

Watts, G. J., 3213W 

Watts, G. S., 3712W* 

Waubant, E., 1924T 

Waxman, S. G., 2448W 

Wayne, R. K., 2219F 

Weale, M. E., 374*, 564W, 

1470T, 1927T, 2082W, 

2804T, 3348T 

Weaver, D. T., 1171T 

Webb, A. A., 2517W 

Webb, A. E., 66 

Webb, B. D., 2928F* 

Webb, B. T., 2277W, 2500T, 

2504F, 2594F* 

Webb, S., 315 

Webber, C., 445F, 2476T 

Weber, C., 456W, 912T 

Weber, T. K., 1130F 

Webster, A. R., 2072F 

Webster, J., 2301W 

Webster, T., 493F, 1582F 

Weckselblatt, B., 938T* 

Wedel, R., 203 

Weedon, M., 2709F, 

2935W 

Weedon, M. N., 108, 1624T, 

2148W 

Weeks, D. E., 22, 1464T, 

1474F, 1963T, 2142W, 

2156F, 2159F, 2178W 

Weersma, R., 461F 

Wegmann, D., 476W, 3406T 

Wehby, G. L., 1564F*, 

1937F 

Wehrens, X., 667F 

Wei, C., 1995W 

Wei, J., 1259F, 1736W, 

3065W 

Wei, J. J., 2698W, 2895F* 

Wei, L., 31, 2237F, 2605T, 

3604W 

Wei, P., 1157F* 

Wei, Q., 1291F 

Wei, X. C., 3141W 

Wei, Z., 319*, 2121W, 

2229W, 3561F 

Weichenthal, M., 154 



Weidinger, S., 1939T, 1942T, 

2102F, 2226W 

Weihbrecht, K., 323, 

2690T* 

Weinberg, C. R., 1416T 

Weinberg, S., 1937F 

Weinberg, S. M., 1315F 

Weinberger, D., 2444F 

Weiner, A., 2673F 

Weinreb, R. N., 2154W, 

2240F, 2263T 

Weinshilboum, R., 1247F 

Weinstein, D. A., 2712F 

Weinstein, G., 123 

Weinstein, P., 611T 

Weinstein, S., 1012T 

Weinstock, G., 2325W, 

2343W 

Weinstock, G. M., 2262W, 

2320T 

Weir, B., 294 

Weir, J., 3663F 

Weir, J. C., 366 

Weir, J. M., 2308T 

Weis, J., 2681T 

Weis, M., 222, 2853F 

Weis, M. A., 2854W 

Weisburd, J., 1338T 

Weisenberger, D., 3415T 

Weisfeld-Adams, J. D., 

168*, 958T 

Weiss, J., 2833W, 3020T 

Weiss, K. M., 194*, 1563T, 

2179T, 2208W 

Weiss, L., 99 

Weiss, L. A., 1274F, 2421W, 

2555F, 3242F 

Weiss, L. W., 2510F 

Weiss, M., 53, 98 

Weiss, M. M., 3200F*, 

3650W 

Weiss, R., 538W* 

Weiss, S., 536W 

Weiss, S. M., 1225T 

Weiss, S. T., 622T, 623T, 

638T, 811F, 2166W 

Weissglas, D., 2256W* 

Weissman, M. M., 369, 

2372F 

Weissman, S., 334, 425F, 

551F, 579F 

Weissman, S. M., 1225T 

Weitzel, J., 321 

Weitzel, J. N., 1071W, 

1219T 

Weksberg, R., 1872F, 1873F, 

3420T*, 3447T, 3456T, 

3482T, 3489T 

Welch, R. P., 34* 

Welch, S., 135, 1824F 

Welford, R., 684T 

Wellcome Trust Case Control 



Control Consortium 

(WTCCC2), 1313W 

Wells, D. W., 1242W 

Wells, J. M., 2189F 

Wells, R. S., 3329W, 3349F 

Wells, S., 3377W* 


Welsh-Bohmer, K., 2465F 

Welter, D., 2108F 

Wen, F., 549F, 566W* 

Wen, J., 2977T* 

Wen, R., 2668W 

Wen, S., 3495T* 

Wen, X., 273, 1429F, 

1463W* 

Wen, Y., 399 

Wencel, M., 3144F 

Wendland, J., 260, 2622W 

Wendland, J. R., 261 

Wendschlag, A., 515F 

Wendt, D., 763W 

Wendt, J., 3688W 

Wendt, K. S., 2958F 

Weng, Y., 1689T, 3467T 

Weng, Z., 397 

Wenger, D. A., 2805F 

Wenger, N., 611T 

Wennerström, A., 3258T* 

Wentworth, B., 767W, 

1698T 

Wentzel, S., 309 

Wenz, M., 3708W 

Werling, D. M., 2551T, 

2658W* 

Werneck, R., 1899W 

Werneck, R. I., 1978T 

Wernig, M., Session 78 

Wernovsky, G. W., 2443T 

Wert, K. J., 393* 

Wertelecki, W., 302* 

Wesfeld-Adams, J. D., 

3145W 

Weslow-Schmidt, J., 912T 

Wessman, M., 2348F 

West, A. B., 1235F 

West, C., 1965W 

West, J. D., 2511W, 2531F 

West, R., 397 

West, R. B., 1054T 

Westbroek, W., 199 

Westbrook, J., 1771W* 

Westbrook, M. J., 631T 

Westendorp, R., 2080T 

Westerfield, M., 2725W 

Westerman, M. P., 434W 

Westgate, K., 2359T 

Westhof, E., 522W 

Westlake, C., 1088F 

Weston, N., 2098T 

Westra, H., 584W, 1284T*, 

1503T 

Westra, H.-J., 523F, 1621T, 

2088W 

Weterman, M. A. J., 2909T* 

Wettrell, G., 2699T 

Wever, O. R., 3363T 

Wevers, R. A., 160, 167, 

672T 

Wey, G., 730T 

Weyant, R., 2034W, 3406T 

Weyant, R. J., 1464T, 1474F, 

2142W, 2156F, 2178W 

Whalen, M. B., 1516F 

Wheaton, D. K., 3234F 

Wheelan, S., 1229F 

Wheeler, B., 1306F 

Wheeler, D., 2880F 

Wheeler, D. A., 1221W, 

1231T 

Wheeler, E., 43* 

Wheeler, M., 1601T, 2292W, 

3232F 

Wheeler, W., 1010F 

Wheeler, W. A., 1372F 

Whelan, F., 639T 

Whigham, B., 386 

Whincup, P. H., 1626T 

Whirl-Carrillo, M., 633T, 

635T 

Whitacre, J., 3697F 

White, C., 2184W 

White, C. C., 1599T 

White, H., 454W 

White, J., 2701W 

White, J. G., 2838F 

White, J. K., 105 

White, K. P., 614T 

White, M., 245* 

White, P., 2904F, 3530W 

White, P. S., 3590W* 

White, R., 37 

White, R. S., 1989W 

White, S., 506W, 1911W, 

2801T 

White, S. J., 1122W, 1273T* 

White, S. M., 131, 2925F 

White, W., 1715T 

Whitehead, P., 2330F*, 

2508W, 2637W 

Whitehead, P. L., 9, 270, 

2028W, 2049W, 2318F, 

2445W, 2572T, 2583W, 

2586W, 2614T 

Whitehead, P. W., 341 

Whitehouse, A., 2164T 

Whitehouse, P. J., 317 

Whiteman, D., 2190W 

Whitfield, J. B., 2212T 

Whiting, R., 784W 

Whitley, C., 714T, 715F 

Whitley, C. B., 801W* 

Whitley, W., 1855F 

Whitmer, R., 96 

Whitsel, E., 2337W 

Whittaker, J., 1257W, 1387F 

Whittemore, A., 1001F 

Whittemore, A. S., 1214F 

Whittington, D., 1854F 

Whyte, J., 1133F 

Whyte, M. P., 2864T 

Wibrand, F., 702T 

Wichmann, H.-E., 1942T, 

2103W, 2160W, 2226W 

Wickstrom, E., 797W 

Widagdo, J., 2796F 

Widen, E., 2059T, 2134T 

Widén, E., 2097W 

Wide Pissetti, C., 1593T 

Wie, J., 2437T 

Wieacker, P., 2595W 

Wieben, E., 1247F 

Wieczorek, D., 2356T, 

2595W 

Wiedau-Pazos, M., 2661W 

Wiederkehr, M., 415F 

Wiegand, M., 2567F 

Wiegant, W. W., 27 

Wieland, T., 567F, 582W, 

2567F, 2595W*, 2917W, 

2922F 

Wiemels, J., 2268W 

Wienker, T. F., 3550W 

Wieselquist, L., 1820F 

Wieskamp, N., 1749W 

Wiesner, G., 3097W 

Wiest, J. S., 1454W 

Wigg, K., 3509T 

Wiggs, J., 2135F 

Wiggs, J. L., 1887W, 

2154W, 2240F, 2263T 

Wigler, M., 1600T, 2587T 

Wigner, C., 935W 

Wiitala, K., 3331F 

Wijburg, F. A., 681F 

Wijdicks, M., 3688W* 

Wijmenga, C., 155, 461F, 

523F, 1284T, 1330F, 

1503T, 2088W 

Wijmenga, S. S., 2696T 

Wijsman, E., 1541W 

Wijsman, E. M., 1605T, 

2406W, 2549F 

Wiklund, F., 28, 205, 991T, 

1001F, 1148F, 1189T, 

1214F, 1990T 

Wilcox, A., 1564F 

Wilcox, A. J., 1472W 

Wilcox, E. R., 2724F 

Wilcox, W., 753T 

Wilcox, W. R., 712T 

Wild, P. S., 275, 1669T 

Wild, S., 1481W 

Wild, S. H., 1383T 

Wilde, J., 2958F, 3725F 

Wilde, S., 1669T 

Wildenauer, D. B., 2407T* 

Wildenauer, M. D. B., 2407T 

Wilder, J. A., 988T, 3314W* 

Wildman, D., 435F 

Wildsoet, C. F., 3521T 

Wiley, G., 1901F 

Wiley, G. B., 549F 

Wiley, L., 312*, 2321F 

Wiley, V., 166 

Wilfong, A. A., 2395T 

Wilhelmsen, K., 2489F, 2542T 

Wilhelmsen, K. C., 231 

Wiliams, N. M., 2405F 

Wilichowski, E., 758W 

Wilk, A., 44, 3441T 

Wilke, M., 696T 

Wilke, R. A., 647T 

Wilkens, A., 2904F, 3038F, 

3082F 

Wilkens, L., 2042F 

Wilker, E., 3469T 

Wilkie, A. O. M., 218, 219, 

2151W, 2746W, 3070F 

Wilkins-Haug, L. E., 70 

Wilkinson, R., 3332W 

Wilkinson, S., 3720W 

Willaert, A., 833F 

Willard, H. F., 147 

Willard, M., 1369F 

Willard, M. D., 1235F* 

Willatt, L., 3109W 

Willems, M., 3166F*

Willems, S. M., 1308T, 

2076W, 2116T, 2137T 

Willemsen, M. A., 100, 160, 

214 

Willemsen, M. A. A. P., 125, 

1734W 

Willemsen, M. H., 97, 100, 

102* 

Willemsen, R., 513F 

Willems van Dijk, K., 228, 

2107T 

Willenborg, C., 115, 119, 

1308T, 2076W 

Willer, C., 117* 

Willer, C. J., 170, 2090F 

Willer, J., 2458T 

Willer, J. R., 3 

Willer, T., 2812W 

Williams, A., 178, 3360T 

Williams, A. H., 1979F 

Williams, A. L., 48* 

Williams, B., 1765W 

Williams, C., 3126F* 

Williams, D. C., 2517W 

Williams, F. M. K., 503F 

Williams, G., 132 

Williams, H., 1325W 

Williams, I. M., 162 

Williams, J., III, 3020T 

Williams, K. L., 2816T* 

Williams, M. S., 3581F 

Williams, P. M., 1068W 

Williams, R. B., 1594T, 

2481W 

Williams, R. C., 1348F* 

Williams, S., 1668T, 3388F 

Williams, S. M., 245, 606T, 

1634T, 2572T, 3275W* 

Williams, S. R., 123* 

Williams, T. C., 3713F 

Williams, T. N., 2157W 

Williams-Blangero, S., 

1280W 

Williamson, A. L., 1073F 

Williamson, D., 530W 

Williamson, K., 3072F 

Williford, B., 949W 

Willing, M. C., 220 

Willis, A., 314, 1735W, 

1742W, 1761W 

Willis-Owen, S. A. G., 

3466T, 3469T, 3486T 

Willsey, A. J., 375, 2605T 

Willuweit, S., 3364F, 3402T 

Wilnai, Y., 3053W* 

Wilson, A. F., 1347T, 1396F, 

1690T, 1983W, 2151W, 

3070F 

Wilson, B. J., 149*, 150, 

1827W, 1852F 

Wilson, J., 350, 1481W 

Wilson, J. F., 1383T, 2366F* 

Wilson, J. G., 170, 178, 284, 

1408F, 1677T, 2210F, 

2337W 

Wilson, K., 3388F 

Wilson, L., 126 

Wilson, L. C., 217, 218 

Wilson, M., 334 

Wilson, M. J., 3290W 


Wilson, N. R., 2670F* 

Wilson, R., 465F, 809F, 

1203W, 1210T, 2325W, 

2343W 

Wilson, R. K., 375, 2320T, 

2587T, 3296W 

Wilson, R. R., 3158F 

Wilson, S., 247, 1316W, 

1928F* 

Wilson, S. G., 1216T* 

Wilson, T. E., 339 

Wilson, W., 3053W 

Wilson Sayres, M., 281* 

Wiltshire, S., 119, 1308T, 

2076W, 2137T 

Wimmer, K., 2791W 

Win, A. K., 141*, 1079F 

Winarni, T. I., 770W 

Winata, C. L., 3047W 

Winberg, J., 3245W* 

Winchester, L., 509F 

Winckler, W., 368 

Windham, G., 7, 463F 

Windpassinger, C., 2570F, 

2575T, 3456T 

Wineburg, M., 966T 

Wineinger, N. E., 434W, 

1319W* 

Winge, M. C. G., 1939T* 

Wingo, T., 2477F 

Winham, S., 605T 

Winham, S. J., 2516F* 

Wininger, F., 784W 

Wininger, F. A., 2817F 

Winkelmann, J., 2086T, 

2567F, 2568W 

Winkler, C. A., 2073W, 3315T 

Winkler, R., 732T, 772W 

Winkler, R. E., 745F 

Winkler, S., 200 

Winkler, T., 1308T, 2076W 

Winkler, T. W., 108, 119, 

1954T, 2090F, 2123F, 

2147F* 

Winn, J., 1440T 

Winn, V. D., 3232F 

Winney, B., 181 

Winquist, E., 135, 1824F 

Winqvist, R., 1099T* 

Winsvold, B. S., 2348F 

Winterhoff, B. J., 3451T 

Winters, A. H., 3027T* 

Wirth, B., 236* 

Wirth, R., 2944W 

Wise, C., 221, 2143T 

Wise, C. A., 1359T, 3108F 

Wiseman, R., 1671T 

Wiseman, R. W., 595F 

Wisjman, E., 1918T 

Wisnieski, F., 1132T, 3421T, 

3503T* 

Wisotzkey, R., 1190F* 

Wissinger, B., 3126F 

Wissink-Lindhout, W. M., 

102 

Wiszniewska, J., 61, 314, 

898T, 1742W, 1757W 

Wiszniewski, W., 360, 

777W, 2798T, 2883F*, 

2908W 


Wit, J., 2701W 

Wit, J. M., 131 

Wither, J. E., 3382F 

Withers, M., 61 

Witherspoon, D. J., 600F*, 

3378T 

Withoff, S., 523F 

Witkowski, A. M., 33 

Witmer, P. D., 520W 

Witonsky, D., 248 

Witte, D. R., 2317T, 2347T 

Witte, J., 75, 1469W, 1548T 

Witte, J. S., 1250F, 1352W, 

1501F, 1885T, 2202W, 

2258F 

Witte, T., 2084F 

Wittemore, A., 28 

Wittig, I., 699F, 782W 

Wittwer, C., 673F 

Wittwer, C. T., 495F 

Witwicki, R. M., 62, 415F 

Wo, M., 3204F 

Wodak, S., 320, 1872F, 

1873F 

Wohler, E., 2918T 

Wohlleber, E., 2595W, 

3109W 

Wojcik, G. L., 3393W* 

Wojczynski, M. K., 1913F 

Wokke, B., 574W 

Wold, H., 921W 

Wolf, D., 2788W 

Wolf, E., 2922F 

Wolf, I., 1063T 

Wolf, J., 1152W 

Wolf, L., 3185W 

Wolf, P. A., 123, 2528F 

Wolf, W. A., 1799W 

Wolfbauer, G., 1605T 

Wolfe, L. A., 2938W 

Wolfe, R., 2996T 

Wolffenbuttel, B. H. R., 2282F 

Wolfgeher, D., 1614T, 1683T 

Wolfner, M. F., 2214W 

Wolk, F., 59 

Wöllner, K., 1005W 

Wollnik, B., 1*, 2944W, 

3070F, 3214F 

Wollstein, G., 2154W, 

2240F, 2263T 

Woloszynska-Read, A., 

3428T* 

Wolyniec, P., 2461T, 2486F, 

2573F, 2576F 

Won, H.-H., 1007F, 1103F 

Won, M., 3695F 

Won, M. S., 3710W* 

Wong, A., 2282F 

Wong, A. C. Y., 2662W 

Wong, B., 493F 

Wong, C., 1338T 

Wong, C. C. Y., 3487T* 

Wong, D., 3161W, 3518T, 

3591F* 

Wong, D. A., 315, 680T 

Wong, E., 2494T* 

Wong, E. H. M., 1930T, 

2066F, 2932W 

Wong, H. M., 3123W 

Wong, K., 256, 2786T 

Wong, K. C. C., 3466T, 

3469T, 3486T 

Wong, K. K. Y., 1930T 

Wong, L., 245, 677F, 3209W 

Wong, L.-C., 683F 

Wong, L. J., 666T 

Wong, L.-J., 1750W 

Wong, L. P., 3339T 

Wong, M., 3612W 

Wong, P., 2573F 

Wong, R. C. C., 3100F 

Wong, S., 64 

Wong, S. H., 143 

Wong, S.-S., 1235F 

Wong, S. S., 614T 

Wong, T. Y., 429F, 2094W 

Wong, Z., 28 

Wong-Ley, L. E., 650T* 

Woo, C., 412W, 486W, 

3520T* 

Woo, M., 877W 

Woo, S., 3673F* 

Woo, Y., 3444T 

Wood, A., 1513F 

Wood, A. R., 108, 176, 

1923W, 2148W*, 2241W, 

2308T, 2339F 

Wood, B. M., 1781W 

Wood, G. C., 2078F 

Wood, N., 2581T 

Wood, S., 262 

Wooderchak-Donahue, 

W., 225 

Woodruff, T., 250 

Woods, J., 133 

Woods, R., 832F, 2262W 

Wood-Siverio, C., 2538W 

Woodward, S., 3321T, 3340F 

Woodward, S. R., 3365W 

Woollard, W. J., 2896W, 

2925F 

Woolstenhulme, N., 1021T 

Workalemahu, T., 51, 108, 

1954T, 2123F, 2147F 

Worley, M., Jr., 1272W 

Wormley, B., 2500T, 2594F 

Worrall, B. B., 123 

Wortmann, S., 672T 

Woulfe, J., 2794W 

Wouters, E., 2249F 

Wouters, M. M., 2088W 

Woyciechowski, S., 65 

Wragg, C., 2935W 

Wraith, J. E., 684T 

Wratten, N., 2467T 

Wrazien, S., 3530W 

Wren, J. D., 549F 

Wren, Y., 2164T 

Wright, A., 413F, 1481W 

Wright, A. F., 1383T, 2072F, 

2366F 

Wright, C., 101, 291, 364, 

2637W 

Wright, C. B., 1635T, 2583W 

Wright, F., 368, 2953W 

Wright, F. A., 171, 1322W, 

1532W 

Wright, G., 644T 

Wright, G. E. B., 1808F* 

Wright, M., 1803W, 3651F 



Wright, M. F., 631T 

Wright, M. J., 2054F 

Wright, W., 1776W 

Writzl, K., 61, 3001T* 

WTCCC2, 2068T 

WTCCC2, Genetic Analysis 

of Psoriasis Consortium, 

I-chip for Psoriasis 


Wu, B., 2696T 

Wu, C., 1027T, 2042F, 3584W 

Wu, C. C., 1298W*, 2936T 

Wu, C.-T., 444W 

Wu, D., 2027F 

Wu, G., 1502W* 

Wu, H., 382, 864T, 1338T 

Wu, J., 816F, 1314T*, 

1723W, 1954T, 2123F, 

2147F, 3604W 

Wu, J. Y., 2858T 

Wu, J.-Y., 2092T 

Wu, K., 623T 

Wu, K. H. C., 3167W* 

Wu, L., 581F*, 1161W*, 

1162T, 2000F 

Wu, M., 1262F* 

Wu, M. C., 1532W 

Wu, Q., 2073W 

Wu, S., 1838F, 2149T*, 2874F 

Wu, S. W., 2438F 

Wu, S. Y., 1003T, 2053T 

Wu, T., 1472W*, 2721F, 

3317W 

Wu, W., 1904F*, 3378T 

Wu, W. T., 2985T 

Wu, X., 213, 1684T, 3168F, 

3237W 

Wu, X.-F., 3281W 

Wu, Y., 1546F, 1608T*, 

1894T, 2617T, 3168F, 

3237W 

Wu, Y. L., 458W 

Wu, Z., 668T, 2492F 

Wu-Chou, Y. H., 1472W, 

1512T 

Wulur, I. H., 1235F 

Wunderink, M., 955W, 979W 

Wurfel, M. M., 1408F 

Würtz, P., 1623T* 

Wuyts, W., 2757F* 

Wyatt, A., 3161W 

Wyatt, C. R., 2717T 

Wynn, J., 3046F 

Wyrobek, A. J., 984W* 

X 

Xavier, A. C., 959W 

Xavier, J., 2150F* 

Xavier, J. M., 1977W, 

2085W 

Xavier, R. J., 2319W 

Xe, Q., 457F 

Xerri, O., 390 

Xi, L., 2804T 

Xi, Q. J., 82 

Xia, B., 1099T 

Xia, F., 314*, 1742W 

Xia, H., 1930T 


Xia, J., 136, 3620W* 

Xia, K., 2251T, 2617T 

Xia, M., 242, 3490T 

Xia, Q., 2121W 

Xia, R., 1041W 

Xia, Y., 2227T 

Xian, M., 2251T 

Xiang, A. H., 1916F 

Xiang, K., 3317W 

Xiang, Q., 244, 457F 

Xiao, C., 3592W* 

Xiao, F., 1399F* 

Xiao, J., 2438F, 2782W* 

Xiao, M., 3025T*, 3649F 

Xiao, P., 3081W 

Xiao, T., 810F 

Xiao, W., 1112F, 1199F, 

3485T 

Xie, C., 3604W* 

Xie, F., 1945T 

Xie, H., 1974W, 3168F 

Xie, L. Y., 3442T, 3452T 

Xie, P., 2621F* 

Xie, Q., 2623T 

Xie, W., 1546F, 1624T, 

1693T, 2935W, 3509T 

Xie, Y. Y., 1110W 

Xifara, D., 16* 

Xing, C., 1368T* 

Xing, E., 1388W, 3605F* 

Xing, E. P., 2152T, 3391W 

Xing, J., 195, 600F, 1904F, 

3297T, 3378T* 

Xing, Q., 2419T* 

Xing, Y., 2636F 

Xiong, L., 1670T, 2402F*, 

2558F 

Xiong, M., 20*, 92, 192, 

1401T, 1499W, 1508W, 

1527T, 2460W 

Xiong, X., 1010F 

Xu, C., 651T, 1972T, 2495F* 

Xu, G. L., 3483T 

Xu, H., 1511W, 1864F*, 

1907F, 3334F, 3418T* 

Xu, J., 28, 986F, 1001F, 

1080W, 1214F, 1369F, 

1491T, 1648T, 1661T, 

2274W, 2332T, 2879T, 

3285T, 3425T 

Xu, J. B., 3416T 

Xu, K., 2785W, 2892F 

Xu, L., 2237F 

Xu, N., 1255T 

Xu, Q., 2617T 

Xu, S., 443F, 520W*, 909W*, 

3334F, 3358F, 3394T* 

Xu, T., 532W, 3723F 

Xu, W., 909W, 1108T, 2819T 

Xu, X., 1100F*, 1255T, 

2617T, 2935W 

Xu, Y., 161, 1298W 

Xu, Y.-H., 690T 

Xu, Y. H., 2667F 

Xu, Y.-Q., 2970T* 

Xu, Y. Q., 836F 

Xu, Z., 2477F*, 3231W* 

Xue, C., 170 

Xue, F., 1365T 

Xue, X., 2080T 

Xue, Y., 41, 130, 3377W 

Xue, Z., 641T, 651T* 

Xumerle, L., 2548T 

Y 

Yadak, R., 796W 

Yadavalli, A. D., 3630W* 

Yaghootkar, H., 1284T, 

1503T, 2148W 

Yagi, M., 729F*, 781W 

Yagmurdur, M. C., 3426T 

Yagnik, G., 2151W* 

Yahya, Z., 3034T 

Yahyavi, M., 810F*, 2926W 

Yakhini, Z., 3588W 

Yakir, B., 3675F 

Yakubovskaya, M., 1180T, 

1181F 

Yamada, K., 2748F 

Yamada, R., 1984T, 2004W 

Yamada, T., 2174F 

Yamada, Y., 2748F* 

Yamagata, S., 2550W 

Yamagata, T., 2588F, 3118F 

Yamagata, Z., 1819W*, 

1833W, 1980W 

Yamagata University 

Genomic Cohort 


Yamaguchi, S., 1574W, 

2747T 

Yamakage, M., 1940F 

Yamamoto, E. H., 2876T 

Yamamoto, G. L., 2232W, 

3152F, 3184F, 3250F* 

Yamamoto, K., 1574W, 

1984T, 2004W, 3436T 

Yamamoto, M., 2619W 

Yamamoto, N., 1815W 

Yamamoto, R., 234 

Yamamoto, T., 233, 1290T, 

3102F 

Yamanaka, H., 2004W, 

2032T, 2287T 

Yamanaka, I., 2697F 

Yamano, A., 2748F 

Yamanouchi, Y., 1795W*, 

2891T 

Yamaoka, M., 2130W 

Yamasaki, M., 2496W* 

Yamashita, C., 1730W, 

2559W 

Yamashita, H., 1549F 

Yamauchi, A., 3337F 

Yamauchi, N., 52 

Yamazaki, K., 2174F* 

Yamazaki, T., 2873T 

Yammine, T., 2692W 

Yamrom, B., 2587T 

Yan, A., 3730W 

Yan, C.-Y., 1216T 

Yan, J., 1465F 

Yan, K., 1475W 

Yan, L., 2489F, 3293W, 

3425T, 3428T 

Yan, Q., 2445W 

Yan, S., 1524T*, 3265F, 

3379F* 

Yan, W., 1986W 

Yanagi, K., 2758W 

Yanagi, T., 724T 

Yanagihara, I., 475F 

Yandell, M., 195, 3561F, 

3633F 

Yanek, L. R., 1652T*, 1710T 

Yang, B. Z., 2497T 

Yang, C., 2204F, 2207F* 

Yang, F., 438W 

Yang, H., 531F, 1249T, 

1391W, 1905W*, 2617T 

Yang, H. C., 3430T 

Yang, I., 3466T 

Yang, J., 108, 1331W, 

1360F, 2016W*, 2090F, 

2200T*, 2388W*, 2574W, 

3370F, 3470T 

Yang, J. P., 2482T 

Yang, K., 1071W 

Yang, L., 3667F 

Yang, M., 1540F 

Yang, M. Y., 80 

Yang, P., 989F, 1454W 

Yang, Q., 123 

Yang, R., 1517W* 

Yang, S., 2273F, 3330T 

Yang, S. P., 658T 

Yang, T., 411, 583F 

Yang, T.-P., 44, 3453T 

Yang, W., 180*, 586W, 

1468F*, 1929W, 2016W, 

2064W*, 3657F 

Yang, X., 116, 159, 864T, 

2220W*, 2660F 

Yang, X.-H., 2969T, 2970T 

Yang, Y., 314, 821F, 864T, 

985T, 1735W*, 1742W, 

1757W, 1761W, 1972T, 

2921T, 3488T* 

Yang, Z., 2390F*, 2574W, 

3317W 

Yanicostas, C., 843F 

Yanikkaya Demirel, G., 2429F 

Yannoukakos, D., 1191W, 

1228T 

Yano, K., 2287T 

Yano, S., 237* 

Yanovitch, T., 2328W 

Yanovski, J. A., 2702T 

Yao, W., 1249T 

Yao, Y., 2584T, 2917W 

Yap, Z., 216 

Yarnall, J. M., 1329T 

Yarnykh, V. L., 2530T 

Yaron, O., 2919F 

Yaron, Y., 704T 

Yasari Mazandarani, A., 

1961F, 1962W* 

Yashin, A., 1991F, 2027F, 

2194T 

Yaspan, B., 15, 1887W, 

2135F 

Yaspan, B. L., 2154W, 

2240F*, 2263T 

Yasuda, C. L., 2394W 

Yasufumi, O., 3519T* 

Yasui, D. H., 64, 2783T*, 

3498T 

Yasukawa, K., 1631T

Yasunami, M., 1998W, 

1999T* 

Yates, J. C., 2249F 

Yates, J. R. W., 2072F 

Yato, S., 3221W 

Yatsenko, S., 904T 

Yatsenko, S. A., 971W, 

1744W* 

Yatsuka-Kanesaki, Y., 

2923W 

YAtsuki, H., 3432T 

Yatsuki, H., 3519T 

Yau, M., 2812W 

Yazarlou, F., 1169F 

Yazdani, R., 448W 

Yazici, H., 3475T 

Ye, C., 322, 528W, 1341T 

Ye, K., 459F*, 2587T, 3309T* 

Ye, L., 859W, 1699T 

Ye, X., 1472W, 2151W, 2928F 

Ye, Z., 1626T, 2297F, 3326W 

Yeager, M., 30, 213, 1012T, 

1154F, 1160F, 1218W, 

1242W, 1372F, 1517W, 

3683F 

Yeakley, J., 1176W 

Yee, J. K., 695F 

Yee, M. C., 293, 371, 3361F, 

3362W, 3368W, 3411W 

Yeetong, P., 2749W* 

Yeh, E., 2687T 

Yeh, T., 666T 

Yeheskel, A., 2919F 

Yehuda, D., 1159T 

Yemelyanov, A., 1181F 

Yen, T., 3596W 

Yendle, S. C., 2897T 

Yeo, A., 641T 

Yeo, G. S. H., 3034T 

Yeoh, K. H., 2491T 

Yeow, V., 1472W 

Yerges-Armstrong, L. M., 

602T, 2275T 

Yerko, V., 2482T 

Yesilyurt, A., 2881W 

Yeung, W. S. B., 3000T 

Yevtushok, L., 302 

Yi, K., 2251T 

Yi, L., 2686W* 

Yi, N., 1292W, 1410T, 3613F 

Yi, X., 3300T 

Yigit, E., 512W, 3517T, 

3702W, 3715F 

Yilmaz, E., 2058W 

Yilmaz, N., 594W* 

Yilmaz, S., 594W, 1164W, 

1166F, 3132F 

Yilmaz Celik, Z., 1013F*, 

3424T, 3426T 

Yilmaz Susluer, S., 1178F 

Yilmaz Süslüer, S., 1172F 

Yim, P., 412W 

Yim, P. W., 486W* 

Yim, S., 3103W 

Yim, S. H., 3607F 

Yin, A. H., 1723W 

Yin, B., 1757W 

Yin, H. W. H., 1034F* 

Yin, J., 477F, 2152T*, 3605F 

Yin, X., 660T, 1585T 


Yip, B. H. K., 2066F 

Yip, W., 1431T* 

Yiu, E., 2742F 

Yiu, M., 963W* 

Ylaya, K., 1092W 

Ylstra, B., 494W 

Yntema, H., 215* 

Yntema, H. G., 97, 102, 

125, 1749W 

Yntema, J. B., 216 

Yokota, T., 232, 729F 

Yokoyama, E., 875W, 976T, 

2365T 

Yokoyama, J. S., 2517W*, 

2639F 

Yolken, R., 1406W 

Yonath, H., 783W* 

Yoneda, M., 245 

Yonezawa, A., 2917W 

Yoo, H., 2518T* 

Yoo, H. W., 698T, 787W* 

Yoo, H.-W., 964T, 3227W 

Yoo, N., 1230W 

Yoo, S., 1248W 

Yoo, Y., 1384F 

Yoon, E. J., 1338T 

Yoon, G., 2554T* 

Yoon, J., 1243T, 3462T 

Yoon, O. K., 571F* 

Yoon, S., 866T, 867W, 

3112F 

York, T., 3512T* 

York, T. P., 1717W 

Yoshida, A., 2697F 

Yoshida, L. M., 1998W, 

1999T 

Yoshida, M., 52, 2349W, 

2380T* 

Yoshida, S., 2287T* 

Yoshida, Y., 1333F 

Yoshihashi, H., 3105W*, 

3192F 

Yoshikawa, A., 2370W*, 

2652W 

Yoshikawa, T., 1631T 

Yoshimatsu, H., 2917W 

Yoshimura, A., 2418W, 

2601W, 2607W, 2616W, 

2823F 

Yoshimura, J., 2409W, 

2569T 

Yoshino, H., 52, 2559W, 

3134F, 3221W 

Yoshino, M., 724T 

Yoshinori, T., 3136F 

Yoshizawa, G., 1815W 

Yoshizawa, J., 1317T 

Yosunkaya, E., 2912T* 

You, G., 3473T 

You, M., 1454W 

Young, A., 1515T, 2042F 

Young, B. M., 1162T 

Young, C., 1869F 

Young, D., 2480F 

Young, J., 794W*, 1072T, 

2672T 

Young, J. E., 2628W 

Young, J. I., 347, 2837T 

Young, J. P., 141, 1067F 

Young, K. L., 1467T* 


Young, L. J., 2383T 

Young, S. P., 168 

Young, T., 521F*, 2328W, 

2543F 

Young, T. L., 454W, 2068T, 

3521T 

Young, W. L., 589F 

Youngblom, J., 145, 1810F 

Younkin, S., 3609F 

Yourdkhani, H., 3083W 

Yourshaw, M., 296*, 315 

Yousaf, R., 2663T, 2724F* 

Yousefi, P., 3458T 

Yousif, F., 1256F 

Yrigollen, C. M., 2634W* 

Yu, C., 601T*, 2550W 

Yu, C. C., 232, 3513T* 

Yu, C. E., 2646W 

Yu, C. S., 3730W 

Yu, C. Y., Session 22, 458W 

Yu, D., 1027T, 1480F, 

2519F* 

Yu, F., 174, 331*, 3576W 

Yu, H., 1731W, 2884W*, 

3479T 

Yu, I., 346 

Yu, J., 148*, 174, 963W, 

1004F, 1842F, 1930T, 

2251T, 2617T 

Yu, J. H., 301 

Yu, K., 1010F 

Yu, L., 1359T 

Yu, L.-H., 234 

Yu, M., 516W, 1666T 

Yu, S., 978T 

Yu, T., 2003F* 

Yu, T. W., 8*, 452W, 2613W 

Yu, X., 3585F, 3593F* 

Yu, Z., 389, 834F, 839F, 

1493W*, 1969T, 2678T 

Yuan, A., 3533F 

Yuan, D., 2251T 

Yuan, G., 3659F 

Yuan, H., 2868F* 

Yuan, J., 2601W* 

Yuan, Q., 2234F 

Yuan, Y., 1269W 

Yudkoff, M., 534W 

Yue, Y., 1235F 

Yuen, R., 175 

Yuen, R. K., 460W*, 2617T 

Yuen, R. K. C., 3445T 

Yuksel, A., 2908W 

Yum, S., 3673F 

Yum, S. W., 330 

Yun, J., 3103W 

Yund, B., 714T 

Yurovsky, A., 561F 

Yusuf, S., 617T, 619T 

Yuvarani, S., 931W 

Yuzyuk, T., 686T* 

Z 

Zabetian, C., 2538W 

Zaccarioto, T. R., 2751F 

Zachariadis, V., 1035W* 

Zack, D. J., 2154W, 2240F, 

2263T 

Zackai, E., 65, 1494T, 

2904F, 3082F, 3151W 

Zackai, E. H., 819F, 2884W, 

3038F 

Zackai, E. Z., 2443T 

Zada, G., 3415T 

Zaenglein, A., 2761W 

Zaghlool, A., 3728W* 

Zaghloul, N., 310 

Zagury, J.-F., 90 

Zahavich, L., 1704T* 

Zahid, S., 1579F 

Zahnleiter, D., 2356T 

Zahra, R., 508W 

Zahrate, M., 324 

Zahrieh, D., 768W, 769W 

Zai, C., 628T*, 2376W 

Zai, G., 612T* 

Zaidi, S., 2542T 

Zaitlen, N., 89, 350*, 

1331W, 1360F, 1577W 

Zakariyah, A., 831F 

Zakharia, F., 3352F, 3360T, 

3380W*, 3390T, 3563F 

Zaki, M. J., 3570W 

Zaki, M. S., 167, 2937F 

Zakov, S., 1043F* 

Zaldivar, F., 3144F 

Zalloua, P., 1640T, 3349F, 

3377W 

Zalloua, P. A., 3387T 

Zamani, A. R., 860T 

Zamanyan, A., 3587F 

Zamarron-Licona, E., 

2019W* 

Zambruno, G., 2760F 

Zamir, I. M., 731F* 

Zampella, J., 1260W* 

Zampetaki, A., 3723F* 

Zampieri, S., 2809W 

Zamudio, R., 1119W, 3325F 

Zamudio, R. M., 926T 

Zamzuraida, A. S., 3267T 

Zanardo, E., 896T, 899W 

Zand, D., 2915T 

Zandi, P. P., 2180F, 2305T, 

2391W 

Zandi, S., 1093T 

Zandoná, A., 896T 

Zandoná-Teixeira, A., 899W 

Zanetti, G., 157 

Zaneveld, J., 1779W, 

2910F* 

Zang, W., 573F 

Zang, Z. J., 2889F 

Zaniew, M., 845F 

Zanke, B., 377, 3478T 

Zanke, B. W., 1093T, 3489T 

Zanlonghi, X., 390 

Zanni, G., 943W, 2777T 

Zannis-Hadjopoulos, M., 

2824W 

Zapata, G., 1646T 

Zapata, G. E., 2189F 

Zappia, M., 2763F 

Zara, I., 157*, 186 

Zaragkoulias, A., 218 

Zaragoza, M. V., 1691T* 

Zarante, A., 3041W, 3049W* 

Zarante, I., 1876F*, 3035W 



Zarate, Y., 3171W* 

Zarbakhsh, B., 1726W 

Zarina, L., 608T 

Zariwala, M. A., 2851W* 

Zariwala, M. B., 406 

Zaslav, A., 1036T* 

Zattara, H., 1212W 

Zatyka, M., 2767W 

Zatz, M., 1727W, 1776W 

Zavala, J., 2495F 

Zavala-Castro, J., 2272T 

Zavaleta, M. J., 960T 

Zaveri, H., 840F*, 2678T 

Zawistowski, M., 476W, 

1371T, 3406T 

Zayed, H., 2643W 

Zaykin, D., 1364W*, 1570F 

Zazo Seco, C., 58, 59 

Zbar, B., 1242W 

Zechi-Ceide, R., 2673F 

Zechi-Ceide, R. M., 813F, 

2746W 

Zechner, U., 849F, 3266W* 

Zeegers, D., 3034T 

Zeesman, S., 300 

Zeevi, D. A., 2991T, 3002T* 

Zeggini, E., 2044T*, 2097W, 

2292W, 2522F, 3396T, 

3408T 

Zehnder, J. L., 1017W 

Zeidler, C., 1868F 

Zeien, G., 422W 

Zeinali, S., 1726W, 3197W 

Zeissig, S., 2315F, 2368T 

Zeissig, Y., 2315F 

Zelante, L., 775W 

Zeldin, D. C., 606T 

Zeledòn, M., 2486F 

Zeledón, M., 2461T* 

Zelenetz, A., 1159T 

Zelenika, D., 2072F 

Zelhof, A. C., 2966T 

Zeligson, S., 2447F, 2991T 

Zelinski, T., 2772F 

Zeller, T., 275, 1669T* 

Zellers, A. D., 1806F* 

Zeman, J., 752T 

Zembutsu, H., 2133W 

Zemel, B. S., 812F* 

Zen, P., 2434T 

Zender, G., 1680T 

Zender, G. A., 1646T 

Zeng, C., 245, 2251T 

Zeng, L., 3415T 

Zeng, Q., 1292W 

Zeng, R., 2805F, 2817F* 

Zeng, W., 2698W*, 2895F, 

2907F, 3065W 

Zeng, Z., 1464T, 1474F, 

2034W, 2156F 

Zerdoumi, Y., 1090T 

Zeringer, E., 3684W 

Zerres, K., 3111W 

Zethelius, B., 2358W 

Zettermann, K., 3729F 

Zeuner, K. E., 200 

Zevallos, J., 1120T 

Zeviani, M., 164, 699F, 

782W, 2810T 


Zha, Z., 1256F 

Zhai, J., 1232F 

Zhan, S. H., 2772F 

Zhan, X., 641T, 1510F, 

1525F*, 1568W, 2183F 

Zhan, Y., 1582F* 

Zhang, B., 503F*, 2403W, 

2804T 

Zhang, C., 1369F, 2080T, 

2644T 

Zhang, C. K., 189 

Zhang, D., 221, 3438T 

Zhang, F., 63, 138, 1004F, 

2112W, 2668W 

Zhang, G., 487F*, 1027T*, 

1239W, 1660T 

Zhang, H., 893W, 1434T, 

2121W, 2184W, 2314T, 

3317W, 3582W 

Zhang, H. S., 803W 

Zhang, H. X., 2985T 

Zhang, J., 31, 821F, 888T, 

1003T, 2251T, 2921T, 

3595F* 

Zhang, J. G., 1473T*, 

2053T, 3534W 

Zhang, K., 283, 519F, 

1292W, 1410T, 1764W, 

1779W, 2154W, 2240F, 

2260T, 2263T, 2910F, 

3474T, 3493T, 3594W*, 

3646W 

Zhang, L., 255, 999W, 

1159T, 1275W*, 2053T*, 

2172W, 2981T, 3097W* 

Zhang, M., 1972T 

Zhang, N., 3675F 

Zhang, P., 1534F* 

Zhang, Q., 18*, 33, 404, 

1004F, 1203W, 1369F, 

1457W*, 2040W 

Zhang, R., 577F* 

Zhang, R. Z., 1930T 

Zhang, S., 1409W, 2206T 

Zhang, S. Y., 3599F 

Zhang, T., 135, 457F, 

1974W, 2623T 

Zhang, T. X., 1472W 

Zhang, V., 1750W, 3209W 

Zhang, V.-W., 683F 

Zhang, W., 49, 110, 161, 

1320T, 2292W, 3472T, 

3719F 

Zhang, X., 159, 462W, 

836F, 2016W, 2064W, 

2254T, 2868F, 3317W, 

3472T 

Zhang, Y., 334, 579F*, 600F, 

836F*, 1723W*, 1995W, 

2016W, 2064W, 2215T*, 

2721F, 3474T, 3545F 

Zhang, Z., 377, 421F, 457F, 

534W*, 2063F*, 3058F, 

3438T, 3670W 

Zhao, G., 1777W, 3600W 

Zhao, H., 189, 1201T, 

1283W, 1635T, 2204F, 

2207F, 2478W, 2497T, 

2503T, 2621F, 3237W 

Zhao, H. Z., 1974W 

Zhao, J., 192*, 1527T 

Zhao, J. H., 1365T*, 1553W, 

2359T 

Zhao, J.-H., 2282F 

Zhao, K., 3254W 

Zhao, M., 1101W*, 2237F, 

3606W* 

Zhao, T., 2999T 

Zhao, W., 171 

Zhao, X., 1367W 

Zhao, X.-L., 1986W 

Zhao, Y., 134, 544W, 557F, 

2721F, 3631F 

Zhao, Z., 136*, 1101W, 

2418W, 3554W, 3620W 

Zheng, H., 480W, 1369F, 

3265F*, 3355F, 3645F* 

Zheng, H. F., 109 

Zheng, H.-F., 2187W 

Zheng, P., 1463W 

Zheng, S., 28, 888T 

Zheng, S. L., 1080W 

Zheng, W., 2202W, 2644T 

Zheng, X., 294*, 2098T 

Zheng, Y., 1003T*, 1972T 

Zheng, Z., 2178W 

Zheng, Z. H., 836F 

Zheng Bradley, H., 3636W 

Zhernakova, A., 461F*, 523F 

Zhernakova, D. V., 523F 

Zhi, D., 1410T, 1460W, 

1502W, 3594W, 3646W* 

Zhong, H., 3317W, 3574W 

Zhong, J., 242*, 2337W 

Zhong, N., 1613T, 1864F, 

1877F, 1986W*, 2355W, 

2969T, 2970T, 3025T, 

3029T 

Zhong, W., 1930T 

Zhou, B., 458W, 1591T, 

2617T 

Zhou, D., 3307F, 3438T* 

Zhou, E., 1251W 

Zhou, F., 3553F 

Zhou, H., 38*, 214, 1369F, 

1866F, 3621F 

Zhou, J., 54, 241, 1515T, 

1526W*, 1886F, 2254T 

Zhou, J. H., 1986W 

Zhou, L., 1540F 

Zhou, Q., 3553F 

Zhou, S., 1670T*, 2402F 

Zhou, S. L., 836F 

Zhou, T., 798W 

Zhou, X., 462W*, 1514W*, 

2254T, 2868F 

Zhou, Y., 864T, 1019F 

Zhou, Z., 2297F 

Zhou, Z.-N., 3281W 

Zhu, C., 349*, 2419T 

Zhu, D., 2419T 

Zhu, G., 174, 2212T 

Zhu, H., 557F 

Zhu, J., 368, 586W, 1107W, 

1540F, 1777W, 2220W, 

2910F, 3123W 

Zhu, J.-Z., 1613T, 2355W* 

Zhu, L., 864T 

Zhu, Q., 3251W, 3310F* 

Zhu, W.-Z., 3281W 

Zhu, X., 350, 369, 579F, 

1376W, 1460W, 1466W, 

1659T, 1959W, 2063F, 

2210F, 2372F, 3658W* 

Zhu, X. Z., 2053T 

Zhu, Y., 4, 20, 92, 192, 254, 

382, 1004F*, 1527T* 

Zhu, Z., 2251T 

Zhu, Z.-H., 1540F 

Zhu, Z.-Q., 457F 

Zhu, Z.-X., 1540F* 

Zhukov, O., 2260T 

Zhurov, A., 1528F 

Ziccardi, W., 591F* 

Zickus, M., 1667T 

Zidan, J., 3336T 

Zieba, J., 838F* 

Ziebell, S., 422W 

Ziegler, A., 200, 275, 

1443T*, 1669T 

Ziegler, J., 1979F 

Ziegler, J. T., 1888T 

Ziegler, R. G., 2202W 

Ziehe, M., 3524T 

Zielenski, J., 1731W 

Ziemek, D., 503F 

Ziff, J. L., 2302T* 

Zigman, W., 859W 

Zilka, M., 123, 3704W*, 

3716W, 3731F, 3733F 

Zill, O., 311* 

Zillges, H., 3373F 

Zillikens, M. C., 1334W, 

1954T, 2123F, 2147F, 

2169W 

Zimdahl-Gelling, H., 617T 

Zimmerman, E., 948T 

Zimmerman, J., 1292W 

Zimmerman, S. L., 3194F* 

Zimmerman-Bier, B., 2381F 

Zimmermann, A. F., 1405F 

Zimmermann, K., 236 

Zimon, M., 201, 2948T* 

Zimprich, A., 2568W 

Zimran, A., 746T, 773W, 

788W* 

Zink, A., 186 

Zink, A. M., 1005W, 2595W, 

3109W 

Ziolkowska-Suchanek, I., 

1184F 

Zissel, G., 2103W 

Ziv, E., 1075T, 1078T, 

1152W, 1576F, 2080T, 

2195F* 

Zivony-Elboum, Y., 199 

Zlatopolsky, Z., 251 

Zode, G. S., 387* 

Zody, M. C., 437F 

Zoellner, S., 1542T 

Zoghbi, H., 2807T 

Zoghbi, H. Y., 2769F 

Zoledziewska, M., 113, 

157, 177, 1451W, 1516F, 

3664W 

Zöllner, S., 476W, 1521T, 

1534F, 3285T, 3406T

Zondervan, K. T., 44, 

583F, 2056T, 2077T, 

2133W 

Zongaro, S., 513F* 

Zook, J. M., 3647F* 

Zou, H., 1359T 

Zou, J. Z., 1974W 

Zou, R., 198 

Zu, T., 2645F* 

Zuccherato, L. W., 3325F 


Zuchelli, M., 807F 

Zuchner, S., 57, 347, 

1681T, 1871F, 2470T, 

2583W, 2586W, 2603F, 

2615F, 2668W, 2820F, 

2930T 

Züchner, S., 201, 2637W, 

2948T 

Zuckerman, B., 3026T 

Zufferey, F., 62, 299 


Zumbo, P., 376, 1818F, 

2610W 

Zúñiga, G. M., 1111T 

Zupan, A., 3381T* 

Zusevics, K. L., 1837W 

Zusi, C., 2548T, 2659T* 

Zuvich, R. L., 631T 

Zvi, T., 704T 

Zvulunov, A., 2810T 

Zwaigenbaum, L., 175 

Zweemer, R., 400 

Zweier, C., 2595W, 2666T* 

Zweig, A., 3557F, 3612W 

Zweynert, S., 3364F, 

3402T 

Zwick, M. E., 1349W, 2069F, 

2312F 

Zwiefelhofer, T., 3014T 

Zwinderman, A. H., 1604T 

Zymak-Zakutnia, N., 302 


ASHG 2012 MOBILE APP 

Download the ASHG 2012 Mobile App to your smartphone (iOS, Android, and 

Blackberry platforms). 

The mobile App brings the meeting to your fingertips wherever you go. Once the App 

has been downloaded, you do not need an Internet connection to view information. 

See ad on page 422. 

RECORDED PRESENTATIONS AVAILABLE AFTER THE MEETING 

Invited Sessions, Award Presentations, and the Plenary Sessions will be 

recorded and posted on the Web site after the meeting. 

These recordings are free to meeting registrants. 

Visit the ASHG Web site in early December to view these presentations. 

During the meeting, attendees are encouraged to post thoughts on exciting scientific 

or clinical advances heard at a session or workshop and on challenges that 

the field will face by using hashtag #ASHG2012 or by posting on the ASHG 

Facebook page. The posts will be monitored and may be discussed at the Closing 

Symposium on Saturday. 

Twitter: @Genetics Society, use #ASHG2012 

Facebook: https://www.facebook.com/GeneticsSociety 

Follow ASHG on Twitter before and during the week of the 2012 Meeting to get the latest 

updates, tips, news, and announcements.









Central

YOUR GUIDE TO THE ASHG 

2012 MOBILE APP 

info search exhibitors Contacts notes 

continuing 

education 

twitter schedule MAPS notifications

during the ASHG Meeting in San Francisco. 

• Apply for ACMG membership during the ASHG meeting and SAVE $125 

on ACMG membership and event registration. 

• Enter drawings for a Kindle Fire and a 2013 ACMG Annual Meeting 

Registration! 

• Check out the Live Online Learning Center and much more! 

Plan Now 

to Attend! 

Don’t Miss Out! 

Stop by the 

American College of Medical Genetics 

and Genomics (ACMG) Booth 318 

Mark Your Calendar 

• Detailed program, registration, and hotel information 

available October 2012 at www.ACMGmeeting.net 

• Abstract submission opens: October 2012 

• Abstract submission deadline: Friday, 

December 7, 2012 

2013 ACMG Genetics Review Course 

• June 2013 • 

Info Coming Soon at www.ACMG.net

ESHG 2013 

Paris, France, June 8 – 11, 2013 

European Human Genetics Conference 

www.eshg.org/eshg2013 

This international conference (now in its 46 th year) is a forum for all workers 

in human and medical genetics to review advances and develop research 

collaborations. The conference has become one of the premier events in 

the fi eld of human genetics with over 2.500 delegates, more than 100 

oral presentations, 16 workshops, and 8 educational sessions. The 

ESHG conference is where the latest developments in human 

genetics are discussed, and where professionals from all parts 

of human genetics meet. 

Abstract submission deadline: 

February 15, 2013

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Contact Mollie Larson at mlarson@natera.com to learn more or to 

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Visit us at bOOTh 504 

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Let’s talk about NGS and data overload.

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Get fast, affordable benchtop sequencing at 

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For research use only. Not intended for any animal or human therapeutic or diagnostic use. The content provided herein may relate to 

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reserved. The trademarks mentioned herein are the property of Life Technologies Corporation or their respective owners. CO03380 0712

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MAF >5%

ASHG 2012 Program Guide - American Society of Human Genetics

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