Two new studies point to the possibility of detecting autism mutations before birth — along with all the ethical and logistical problems that may bring.

Parents of children with rare autism-linked mutations are banding together for support and to join forces with scientists, accelerating the pace of research.

Certain repeated stretches of DNA that are linked to the expansion of the primate brain may also enhance autism traits.

A pair of maps that depict variation in the human genome may help reveal the genetic roots of autism.

Finding a mutation linked to autism traits can have life-changing consequences for autistic individuals and their families.

People with autism may show scant activity in a poorly understood molecular process thought to regulate gene expression.

An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 49 new genes.

Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.

A newly expanded database of information from people in the United Kingdom provides a detailed picture of genetic diversity.

The largest genetic analysis of postmortem brain tissue to date has yielded maps of when and where genes related to autism are turned on and off throughout life.