Article
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Neuron - 23 Sept 2015
Sanders Stephan J, He Xin, Willsey A Jeremy, Ercan-Sencicek A Gulhan, Samocha Kaitlin E, Cicek A Ercument, Murtha Michael T, Bal Vanessa H, Bishop Somer L, Dong Shan, Goldberg Arthur P, Jinlu Cai, Keaney John F, Klei Lambertus, Mandell Jeffrey D, Moreno-De-Luca Daniel, Poultney Christopher S, Robinson Elise B, Smith Louw, Solli-Nowlan Tor, Su Mack Y, Teran Nicole A, Walker Michael F, Werling Donna M, Beaudet Arthur L, Cantor Rita M, Fombonne Eric, Geschwind Daniel H, Grice Dorothy E, Lord Catherine, Lowe Jennifer K, Mane Shrikant M, Martin Donna M, Morrow Eric M, Talkowski Michael E, Sutcliffe James S, Walsh Christopher A, Yu Timothy W, Ledbetter David H, Martin Christa Lese, Cook Edwin H, Buxbaum Joseph D, Daly Mark J, Devlin Bernie, Roeder Kathryn, State Matthew W
Abstract excerpt
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing...
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