Annual Report 2001 - The Hospital for Sick Children

the risk for neural tube defects in infants.
The American Journal of Psychiatry: 2002:
159: 136-137.
Lazier K, Chow EW, Abdel-Malik P, Scutt L,
Weksberg R, Bassett AS: Low platelet count
in 22q11 deletion syndrome subtype of
schizophrenia. Schizophrenia Research:
2001: 50: 177-180.
Li M, Shuman C, Fei Y-L, Cutiongco E,
Bender HA, Stevens C, Wilkins-Haug L,
Day-Salvatore D, Yong SL, Geraghty MT,
Squire J, Weksberg R: GPC3 mutation
analysis in a spectrum of patients with
overgrowth expands the phenotype of
Simpson-Golabi-Behmel syndrome.
American Journal of Medical Genetics:
2001: 102: 161-168.
Nakabayashi K, Fernandez BA, Teshima I,
Shuman C, Proud V, Curry CJR, Chitayat D,
Grebe T, Ming J, Oshimura M, Meguro M,
Mitsuya K, Deb-Rinker P, Herbrick JA,
Weksberg R, Scherer SW: Molecular genetic
studies of human chromosome 7 in Russell-
Silver syndrome. Genomics: 2002: 79:
186-196.
Nezarati MM, Loeffler J, Yoon G, MacLaren L,
Fung E, Snyder F, Ultermann G, Graham
GE: A novel mutation in the D7-sterol
reductase gene associated with a variable
phenotype in three Lebanese siblings with
Smith-Lemli-Opitz syndrome. American
Journal of Medical Genetics: 2002: 110:
103-108.
Osborne LR, Li M, Pober B, Chitayat D,
Bodurtha J, Mandel A, Costa T, Grebe T,
Cox S, Tsui L, Scherer S: 1.5 million-base
pair inversion polymorphism in families
with Williams-Beuren syndrome. Nature
Genetics: 2001: 29: 321-325.
Pace JM, Chitayat D, Atkinson M, Wilcox
WR, Schwarze U, Byers PH: A single amino
acid substitution (D1441Y) in the carboxylterminal
propetide of the proalpha 1 (I)
chain of type I collagen results in a lethal
variant of osteogenesis imprefecta with
features of dense bone diseases. Journal of
Medical Genetics: 2002: 39: 23-29.
Quercia N, Teebi AS: Craniosynostosis,
ectopia lentis, and congenital heart defects:
Farther delineation of an autosomal
dominant syndrome with incomplete
penetrance. American Journal of Medical
Genetics: 2002: 107: 38-42.
Scutt LE, Chow EWC, Weksberg R, Honer
WG, Bassett AS: Patterns of dysmorphic
features in schizophrenia. American Journal
of Medical Genetics: 2001: 105: 713-723.
Sgro MD, Barozzino T, Mirghani HM, Sermer
M, Moscato L, Akoury H, Koren G,
Chitayat D: Pregnancy outcome post renal
transplantation. Teratology: 2002: 65: 5-9.
Shah V, Friedman S, Moore AM, Platt BA,
Feigenbaum AS: Selective screening for
12
neonatal galactosemia: an alternative
approach. Acta Paediatrica: 2001: 90:
948-949.
Siegel-Bartlet J, Levin A, Kennedy SJ, Teebi
AS: Craniofacial anomalies, cataracts,
congenital heart disease, sacral neural tube
defects, growth and developmental
retardation in two sisters: A new MCA/MR
syndrome. Journal of Medical Genetics:
2002: 39: 145-8.
Smith AC, Squire JA, Thorner P, Zielenska M,
Shuman C, Grant R, Chitayat D, Nishikawa
JL, Weksberg R: Association of alveolar
rhabdomyosarcoma with the Beckwith-
Wiedemann syndrome. Pediatric and
Development Pathology: 2001: 4: 550-558.
Sobacchi C, Frattini A, Orchard P, Porras O,
Tezcan I, Andolina M, Babul-Hirji R, Baric I,
Canham N, Chitayat D, Dupuis-Girod S,
Ellis I, Etzioni A, Fasth A, Fisher A,
Gerritsen B, Gulino V, Horwitz E, Klamroth
V, Lanino E, Mirolo M, Musio A, Matthijs
G, Nonomaya S, Notarangelo LD, Ochs HD,
Superti-Furga A, Valiaho J, van Hove JL,
Vihinen M, Vujic D, Vezzoni P, Villa A: The
mutational spectrum of human malignant
autosomal recessive osteopetrosis. Human
Molecular Genetics: 2001: 10: 1767-1773.
Teebi AS, Kennedy S, Chun K, Ray PN: Severe
and mild phenotypes in Pfeiffer Syndrome
with splice acceptor: Report of two novel
mutations in exon IIIc of FGFR2. American
Journal of Medical Genetics: 2002: 107:
43 -47.
Teebi AS, Porter C, Cuticchia J: Arab Genetic
Diseases Data Base (AGDDB): A population
specific clinical and mutation database.
Human Mutation: 2002: 19: 615-621.
Unger S, Hecht Jacqueline T:
Pseudoachondroplasia and multiple
epiphyseal dysplasia: New etiological
developments. American Journal of
Medical Genetics: 2001: 106: 244-250.
Unger S, Korkko J, Krakow D, Lachman RS,
Rimoin DL, Cohn DH: Double
heterozygosity for pseudoachondroplasia
and spondyloepiphyseal dysplasia
congenita. American Journal of Medical
Genetics: 2001: 102: 140-146.
Unger S, Le Merrer M, Meinecke P, Chitayat
D, Rossi A, Superti-Furga A: New dysplasia
or achondrogenesis type 1B? The
importance of histology and molecular
biology in delineating skeletal dysplasias.
Pediatric Radiology: 2001: 31: 893-894.
van Bokhoven H, Hamel BC, Bamshad M,
Sangiorgi E, Gurrieri F, Duiijf PH,
Vanmolkot KR, van Beusekokm E, van
Beersum SE, Celli J, Merkx GF, Tenconi R,
Fryns JP, Verloes A, Newbury-Ecob RA,
Raas-Rotschild A, Majewski F, Beemer FA,
Janecke A, Chitayat D, Crisponi G, Kayserili
H, Yates JR, Neri G, Brunner HS: p63 Gene
mutations in eec syndrome, limb-mammary
syndrome, and isolated split hand-split foot
malformation suggest a genotypephenotype
correlation. American Journal of
Human Genetics: 2001: 69: 481-492.
Weksberg R, Nishikawa J, Caluseriu O, Fei YL,
Shuman C, Wei C, Steele L, Cameron J,
Smith A, Ambus I, Li M, Ray PN, Sadowski
P, Squire J: Tumor development in the
Beckwith-Wiedemann syndrome is
associated with a variety of constitutional
molecular 11p15 alterations including
imprinting defects of KCNQ1OT1. Human
Molecular Genetics: 2001:10: 2989-3000.
Weksberg R, Shuman C, Caluseriu O, Smith
AC, Fei YL, Nishikawa J, Stockley TL, Best
L, Chitayat D, Olney A, Ives E, Schneider A,
Bestor TH, Li M, Sadowski P, Squire J:
Discordant KCNQ1OT1 imprinting in sets
of monozygotic twins discordant for
Beckwith-Wiedemann syndrome. Human
Molecular Genetics: 2002:11: 1-9.
Winsor S, Concacher S, Myles-Reid D,
Chitayat D, Johnson J: Long-term outcome
of fetuses with increased nuchal
translucency and normal karyotype.
American Journal of Obstetrics and
Gynecology Supplement: 2001: 185: S249.
Yoon G, Graham G, Weksberg R, Gaul HP,
DeBaun MR, Coppes MJ: Neuroblastoma in
a patient with the Beckwith-Wiedemann
syndrome. Medical and Pediatric Oncology:
2002: 38: 193-199.
books and book chapters
Chitayat D, Hodgkinson K: Prenatal
diagnosis in clinical practice. In: Maternal-
Fetal Toxicology (Koren G, ed). Marcel
Dekker Inc, New York: 2001: 653-672.
Cohen MM Jr, Neri G, Weksberg R:
Overgrowth Syndromes (Cohen MM Jr,
Neri G, Weksberg R, eds). Oxford
University Press, New York: 2002.
Nulman I, Bar-Oz B, Laslo D, Fried S,
Chitayat D, Koren G: Fetal malformations
associated with drugs and chemicals.
Maternal-Fetal Toxicology (Koren G, ed).
Marcel Dekker, Inc., New York: 2001:
673-696.
Rimoin DL, Lachman RS, Unger S:
Chondrodysplasias. In: Emery & Rimoin's
Principles and Practice of Medical Genetics
- 4th Edition (Rimoin DL, Connor JM,
Pyeritz RE, Korf B, eds). Churchill
Livingstone. An Imprint of Harcourt
Publishers Limited, London: 2002: 4071-
4116.