Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW. (2013). Support for the N -Methyl-D-Aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. JAMA Psychiatry Jun 1;70(6):582-90.
Blog Archives
Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation
Watson CT, Steinberg KM, Huddleston J, Warren RL, Malig M, Schein J, Willsey AJ, Joy JB, Scott JK, Graves TA, Wilson RK, Holt RA, Eichler EE, Breden F. (2013). Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation. Am J Hum Genet Apr 4;92(4):530-46.
Global increases in both common and rare copy number load associated with autism
Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB. (2013). Global increases in both common and rare copy number load associated with autism. Hum Mol Genet Jul 15;22(14):2870-80.
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
Girirajan S, Dennis MY, Baker C, Malig M, Coe BP, Campbell CD, Mark K, Vu TH, Alkan C, Cheng Z, Biesecker LG, Bernier R, Eichler EE. (2013). Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet Feb 7;92(2):221-37.
Kohlschutter-Tonz syndrome: Mutations in ROGDI and evidence of genetic heterogeneity
Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisan-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H. (2013). Kohlschutter-Tonz syndrome: Mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat Feb;34(2):296-300. Epub 2012 Nov 27.
Accelerated exon evolution within primate segmental duplications
Lorente-Galdos B, Bleyhl J, Santpere G, Vives L, Ramirez O, Hernandez J, Anglada R, Cooper GM, Navarro A, Eichler EE, Marques-Bonet T. (2013). Accelerated exon evolution within primate segmental duplications. Genome Biol Jan 29;14(1):R9.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, Reyes ED, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. (2013). Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet Feb 7;92(2):210-20.
Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus
Mueller M, Barros P, Witherden AS, Roberts AL, Zhang Z, Schaschl H, Yu CY, Hurles ME, Schaffner C, Floto RA, Game L, Steinberg KM, Wilson RK, Graves TA, Eichler EE, Cook HT, Vyse TJ, Aitman TJ. (2013). Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus. Am J Hum Genet Jan 10;92(1):28-40. Epub 2012 Dec 20.
Estimates of penetrance for recurrent pathogenic copy-number variations
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. (2013). Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med Jun;15(6):478-81. Epub 2012 Dec 20.
Evolutionary dynamism of the primate LRRC37 gene family
Giannuzzi G, Siswara P, Malig M, Marques-Bonet T, NISC Comparative Sequencing Program, Mullikin JC, Ventura M, Eichler EE. (2013). Evolutionary dynamism of the primate LRRC37 gene family. Genome Res Jan;23(1):46-59. doi: 10.1101/gr.138842.112. Epub 2012 Oct 11.