Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Author:

Lim Elaine T.,Raychaudhuri Soumya,Sanders Stephan J.,Stevens Christine,Sabo Aniko,MacArthur Daniel G.,Neale Benjamin M.,Kirby Andrew,Ruderfer Douglas M.,Fromer Menachem,Lek Monkol,Liu Li,Flannick Jason,Ripke Stephan,Nagaswamy Uma,Muzny Donna,Reid Jeffrey G.,Hawes Alicia,Newsham Irene,Wu Yuanqing,Lewis Lora,Dinh Huyen,Gross Shannon,Wang Li-San,Lin Chiao-Feng,Valladares Otto,Gabriel Stacey B.,dePristo Mark,Altshuler David M.,Purcell Shaun M.,State Matthew W.,Boerwinkle Eric,Buxbaum Joseph D.,Cook Edwin H.,Gibbs Richard A.,Schellenberg Gerard D.,Sutcliffe James S.,Devlin Bernie,Roeder Kathryn,Daly Mark J.

Publisher

Elsevier BV

Subject

General Neuroscience

Reference43 articles.

1. Prevalence of autism spectrum disorders–Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008;MMWR Surveill Summ.,2012

2. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder;Casey;Hum. Genet.,2012

3. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE;Celestino-Soper;Hum. Mol. Genet.,2011

4. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism;Celestino-Soper;Proc. Natl. Acad. Sci. USA,2012

5. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism;Chahrour;PLoS Genet.,2012

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