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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM, NHLBI Exome Sequencing Project, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ
Neuron. 2013 77 (2): 235-42

PMID: 23352160 · PMCID: PMC3613849 · DOI:10.1016/j.neuron.2012.12.029

MeSH Terms (14)

Case-Control Studies Child, Preschool Child Development Disorders, Pervasive Chromosomes, Human, X Demography Female Gene Deletion Genetic Variation Homozygote Humans Linkage Disequilibrium Loss of Heterozygosity Male Risk Factors

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