The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how
combinations of genetic factors determine risk is unclear. In a large family sample, we show …

Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the
general population, but the effects of this risk are unclear in people not ascertained for …

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

Autism spectrum disorders (ASDs) are characterized by phenotypic and genetic
heterogeneity. Our analysis of functional networks perturbed in ASD suggests that both …

The substantial phenotypic heterogeneity in autism limits our understanding of its genetic
etiology. To address this gap, here we investigated genetic differences between autistic …

Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo
variation. We aimed to clarify the influence of polygenic risk for ASD and to identify …

To assess the relative impact of inherited and de novo variants on autism risk, we generated
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …

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

A key component of genetic architecture is the allelic spectrum influencing trait variability.
For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is …

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 …