Importance Autism spectrum disorder (ASD), characterized by deficits in social
communication and the presence of restricted, repetitive behaviors or interests, is a …

The field of psychiatry is hampered by a lack of robust, reliable and valid biomarkers that can
aid in objectively diagnosing patients and providing individualized treatment …

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 …

Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …

Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …

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 …

Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

Psychiatric disorders are highly prevalent, often devastating diseases that negatively impact
the lives of millions of people worldwide. Although their etiological and diagnostic …

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

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 …