Common and rare variants in or near autism-associated genes can have opposite effects on cognition.

Spontaneous genetic mutations contribute to autism in 30 to 39 percent of all people with the condition, and 52 to 67 percent of autistic children whose siblings do not also have the condition.

An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.

Spontaneous mutations in parts of the genome that regulate gene EBF3 appear to contribute to autism risk.

As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.

A large, whole-genome sequencing study of families yields insights into ultra-rare genetic variants that contribute to autism.

The more scientists dig into DNA, the more intricate its contribution to autism seems to be. Here, we unravel the complex genetics of autism.

Researchers have created the most complete macaque reference genome to date and used it to catalog genetic variation among hundreds of monkeys.

Mutations that disrupt binding sites in RNA molecules may play a role in autism and a variety of psychiatric conditions, according to a new study.

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.