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 …

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

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 …

The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

INTRODUCTION The DNA of protein-coding genes is transcribed into mRNA, which is
translated into proteins. The “coding genome” describes the DNA that contains the …

Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a
combination of rare de novo and inherited variants as well as common variants in at least …

Background CHD8 (chromodomain helicase DNA-binding protein 8), which codes for a
member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the …

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 …

Recent studies implicate chromatin modifiers in autism spectrum disorder (ASD) through the
identification of recurrent de novo loss of function mutations in affected individuals. ASD risk …

Recent progress in the identification of genes and genomic regions contributing to autism
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …