Since the completion of the human genome project in 2003, extraordinary progress has
been made in genome sequencing technologies, which has led to a decreased cost per …

Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …

Genes involved in synaptic function are enriched among those with autism spectrum
disorder (ASD)-associated rare genetic variants. Dysregulated cortical neurogenesis has …

Autism spectrum disorder (ASD) is a neurodevelopmental impairment characterized by
deficits in social interaction skills, impaired communication, and repetitive and restricted …

Human development requires intricate cell specification and communication pathways that
allow an embryo to generate and appropriately connect more than 200 different cell types …

We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …

The study of naturalistic social behavior requires quantification of animals' interactions. This
is generally done through manual annotation—a highly time-consuming and tedious …

Identifying pathogenic variants and underlying functional alterations is challenging. To this
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …

The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart …