To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …

We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected
by simplex autism. For the majority of these families, no copy-number variant (CNV) or …

Genetic studies of autism spectrum disorder (ASD) have established that de novo
duplications and deletions contribute to risk. However, ascertainment of structural variants …

Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic
heterogeneity has proven challenging for gene discovery. Studies of primarily simplex …

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …

Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of
susceptibility loci. Previous microarray and exome-sequencing studies have examined …

Autism arises in high and low-risk families. De novo mutation contributes to autism incidence
in low-risk families as there is a higher incidence in the affected of the simplex families than …

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 …

De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably,
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We …