Individuals who have multiple children with autism have more severe social and communication deficits than either controls or those who have only one child with autism.

Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.

The largest and most ambitious genome-sequencing project to date aims to identify rare variants and study their association to disease traits in 10,000 people.

Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.

The offspring of older male mice are 16 times more likely to harbor a spontaneous copy number variation — a deletion or duplication of genetic material — than are the offspring of young males, according to a new study.

Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.

Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.

A new analysis of children with autism and their unaffected parents provides the best evidence to date that mutations in multiple genes may work together to cause autism and related disorders.

A gene involved in epigenetics — regulation of gene expression by modifying DNA, but without altering the sequence — is associated with autism in families that have only one child with the disorder, according to a study published in November.

Areas of the brain that are active when people are daydreaming or sleeping, and quiet when they are engaged in a task, are imperfectly synchronized in people with autism and attention deficit hyperactivity disorder, researchers say.