Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LF, de Jong PJ, Wilson RK, Eichler EE. (2012). Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell May 11;149(4):912-22.
Blog Archives
Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects
Priest JR, Girirajan S, Vu TH, Olson A, Eichler EE, Portman MA. (2012). Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. Am J Med Genet A Jun;158A(6):1279-84.
The genetic variability and commonality of neurodevelopmental disease
Coe BP, Girirajan S, Eichler EE. (2012). The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet C Semin Med Genet May 15;160C(2):118-29.
Resolving the breakpoints of the 17q21
Itsara A, Vissers LELM, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE. (2012). Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet Apr 6;90(4):599-613.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature Apr 4;485(7397):246-250.
The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
Ventura M, Catacchio C, Sajjadian S, Vives L, Sudmant P, Marques-Bonet T, Graves TA, Wilson RK, Eichler EE. (2012). The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2. Genome Res Jun;22(6):1036-49.
Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21
Bekpen C, Tastekin I, Siswara P, Akdis CA, Eichler EE. (2012). Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region. Genome Res Jun;22(6):1050-8.
Insights into hominid evolution from the gorilla genome sequence
Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, Herrero J, Hobolth A, Lappalainen T, Mailund T, Marques-Bonet T, McCarthy S, Montgomery SH, Schwalie PC, Tang YA, Ward MC, Xue Y, Yngvadottir B, Alkan C, Andersen LN, Ayub Q, Ball EV, Beal K, Bradley BJ, Chen Y, Clee CM, Fitzgerald S, Graves TA, Gu Y, Heath P, Heger A, Karakoc E, Kolb-Kokocinski A, Laird GK, Lunter G, Meader S, Mort M, Mullikin JC, Munch K, O’Connor TD, Phillips AD, Prado-Martinez J, Rogers AS, Sajjadian S, Schmidt D, Shaw K, Simpson JT, Stenson PD, Turner DJ, Vigilant L, Vilella AJ, Whitener W, Zhu B, Cooper DN, de Jong P, Dermitzakis ET, Eichler EE, Flicek P, Goldman N, Mundy NI, Ning Z, Odom DT, Ponting CP, Quail MA, Ryder OA, Searle SM, Warren WC, Wilson RK, Schierup MH, Rogers J, Tyler-Smith C, Durbin R. (2012). Insights into hominid evolution from the gorilla genome sequence. Nature Mar 7;483(7388):169-75.
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
Veeramah KR, O’Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. (2012). De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet Mar 9;90(3):502-510.
Copy number variation of individual cattle genomes using next-generation sequencing
Bickhart DM, Hou Y, Schroeder SG, Alkan C, Cardone MF, Matukumalli LK, Song J, Schnabel RD, Ventura M, Taylor JF, Garcia JF, Van Tassell CP, Sonstegard TS, Eichler EE, Liu GE.
(2012). Copy number variation of individual cattle genomes using next-generation sequencing. Genome Res Apr;22(4):778-90.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader P, Rosenbaum K, Vallee S, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Caignec CL, Glew GM, Opheim KE, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG. (2012). Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat Apr;33(4):728-40.
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE. (2012). Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet Feb;49(2):110-8. Epub 2011 Dec 17.
