Recent research on disparate psychiatric disorders has implicated rare variants in genes
involved in global gene regulation and chromatin modification, as well as many common …

More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins — although …

… Author links open overlay panel A Jeremy Willsey 1 2 , Matthew … Hus, JK Lowe, AJ Willsey,
D. Moreno-De-Luca, TW Yu, E. … AJ Verkerk, M. Pieretti, JS Sutcliffe, YH Fu, DP Kuhl, A. Pizzuti…

Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

Multiple studies have confirmed the contribution of rare de novo copy number variations to
the risk for autism spectrum disorders 1 , 2 , 3 . But whereas de novo single nucleotide …

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n
= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …

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 (…

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …

Autism spectrum disorder (ASD) is a complex developmental syndrome of unknown etiology.
Recent studies employing exome- and genome-wide sequencing have identified nine high-…

Background Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes
typified by impairments in reciprocal social interaction and communication, accompanied …