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 …

Autism spectrum disorder (ASD) consists of a genetically heterogenous group of
neurobehavioral disorders characterized by impairment in three behavioral domains …

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and
intellectual disability (ID), are pervasive, often lifelong disorders, lacking evidence‐based …

Genome-wide analyses of common and rare genetic variations have documented the
heritability of major psychiatric disorders, established their highly polygenic genetic …

Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder
(DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we …

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

Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …

Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a"
female protective effect"(FPE) envisions males and females have" differing thresholds" …

The genetics of neurodevelopmental disorders (NDD) has made tremendous progress
during the last few decades with the identification of more than 1,500 genes associated with …

Extreme phenotype sequencing has led to the identification of high-impact rare genetic
variants for many complex disorders but has not been applied to studies of severe …