A new study highlights the challenge of distinguishing genetic variants linked to autism from those associated with cognitive development.

Individuals with mutations in an autism gene called TRIO may have a range of conditions, including intellectual disability and anomalous head size.

Researchers have cataloged more than 100 mutations in DDX3X, a candidate gene for autism.

People with mutations in a gene called TBR1 have unusual features in several brain regions, along with autism traits and developmental delay.

Rare mutations in a gene called BAZ2B are associated with various conditions of brain development, including autism.

A new technique detects rare mutations that occur in only a subset of the body’s cells.

Older men and women are more likely than young ones to have a child with autism, but this connection is not straightforward.

Some men who have an autistic child carry mutations linked to the condition only in their sperm.

Autism may stem from a different — and larger — set of genetic mutations in women than it does in men.

Mutations in a gene called ZNF292 lead to a variety of developmental conditions, including autism and intellectual disability.