Current Curriculum Vitae (PDF) - Eichler Lab

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Evan Eichler, Ph.D.
*Eichler EE. (2006). Widening the spectrum of human genetic variation. Nat Genet Jan;38(1):9–11.
*Sharp AJ, Eichler EE. (2006). Segmental duplications. In: Stankiewicz P, Lupski JR, editors. Genomic
disorders: The genomic basis of disease. Totowa (NJ): Humana Press. p 73–88.
*Sharp AJ, Cheng Z, Eichler EE. (2006). Structural variation of the human genome. Annu Rev Genomics Hum
Genet 7:407–442.
*Bailey JA, Eichler EE. (2006). Primate segmental duplications: Crucibles of evolution, diversity and disease.
Nat Rev Genet Jul;7(7):552–564.Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, Carter NP, Hurles
ME, Feuk L. (2007). Challenges and standards in integrating surveys of structural variation. Nat Genet Jul;39(7
Suppl):S7–S15 (27 June 2007).
*Cooper GM, Nickerson DA, Eichler EE. (2007). Mutational and selective effects on copy-number variants in
the human genome. Nat Genet Jul;39(7 Suppl):S22–S29 (27 June 2007).
*Eichler EE, Zimmerman AW. (2008). A hot spot of genetic instability in autism. N Engl J Med Feb
14;358(7):737–739 (Jan 9 2008).
Varki A, Geschwind DH, Eichler EE. (2008). Explaining human uniqueness: genome interactions with
environment, behaviour and culture. Nat Rev Genet Oct;9(10):749–763.
*Mefford HC, Eichler EE. (2009). Duplication hotspots, rare genomic disorders, and common disease. Curr Opin
Genet Dev Jun;19(3):196–204.
*Marques-Bonet T, Ryder OA, Eichler EE. (2009). Sequencing primate genomes: What have we learned? Annu
Rev Genomics Hum Genet 10:355–386.
*Marques-Bonet T, Eichler EE. (2009). The evolution of human segmental duplications and the core duplicon
Hypothesis. Cold Spring Harb Symp Quant Biol 74:355–362.
*Marques-Bonet T, Girirajan S, Eichler EE. (2009). The origins and impact of primate segmental duplications.
Trends Genet Oct;25(10):443–454.
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR,
Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D,
Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher
PM. (2009). Finding the missing heritability of complex diseases. Nature Oct 8;461(7265):747–753.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church, DM, Crolla JA, Eichler EE,
Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A,, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn
RM, Lee C, Ostell JM, Rosenberg C,, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC,
Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. (2010). Consensus statement: chromosomal
microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital
anomalies. Am J Hum Genet. May 14;86(5):749–764
*Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH. (2010). Missing heritability and
strategies for finding the underlying causes of complex disease. Nat Rev Genet Jun;11(6):446–450.
*Girirajan S, Eichler EE. (2010). Phenotypic variability and genetic susceptibility to genomic disorders. Hum
Mol Genet Oct 15;19(R2):R176–187.
*Bekpen C, Xavier RJ, Eichler EE. (2010). Human IRGM gene "to be or not to be". Semin Immunopathol
Dec;32(4):437–444.
*Alkan C, Coe BP, Eichler EE. (2011). Genome structural variation discovery and genotyping. Nat Rev Genet
May;12(5):363–376.
*Girirajan S, Campbell CD, Eichler EE. (2011). Human copy number variation and complex genetic disease.
Annu Rev Genet 45:203–226.
*Girirajan S, Eichler EE. (2011). De novo CNVs in bipolar disorder: recurrent themes or new directions?
Neuron Dec 22;72(6):885–887.