Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

Atypical patterns of neuronal activity and gene expression in the striatum may characterize autism in girls, according to a new study.

The field of neuroimaging will need to combine two strategies before it can find patterns of brain activity or structure unique to autism, the researchers say.

Researchers have rated more than 17,000 genes, including many linked to autism and other neuropsychiatric conditions, according to their sensitivity to deletions and duplications.

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.

Jacob Vorstman wants to help people who have rare mutations tied to autism, schizophrenia and other neurodevelopmental conditions set expectations about outcomes.

Mutations seen in only some of the body’s cells often affect gene activity in the brains of people with autism, and can involve large segments of DNA, according to two new studies.

A new study pinpoints the genes and cell types that may underlie the atypical brain structure seen in people with genetic conditions linked to autism.

People who have large mutations associated with autism and schizophrenia share atypical patterns of brain connectivity, according to a new study, especially between areas that process sensory information.

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.