Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental
outcomes in children with a commonality in deficits in social communication and language …

Mental health challenges impede the well-being of autistic people. This Review outlines
contributing neurodevelopmental and physical health conditions, rates and developmental …

Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …

Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

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

DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …

Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …

The mechanisms underlying phenotypic heterogeneity in autism spectrum disorder (ASD)
are not well understood. Using a large neuroimaging dataset, we identified three latent …

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …

Measures of selective constraint on genes have been used for many applications, including
clinical interpretation of rare coding variants, disease gene discovery and studies of genome …