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more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.

Individuals with fragile X syndrome make slightly more eye contact in stressful social situations after taking oxytocin compared with placebo.

A variant of the FGF14 gene may decrease the volume of the amygdala, a brain structure needed to interpret emotions in facial expressions, according to results presented on Sunday at the World Congress of Psychiatric Genetics in Washington, D.C.

Loss of MeCP2, the Rett syndrome gene, in neurons that release the chemical messenger dopamine may lead to the motor deficits associated with the syndrome.

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.

The brains of boys with autism have a lower-than-normal rate of water diffusion across the inferior fronto-occipital fasciculus — a bundle of neurons that connects all four major lobes of the brain, according to a new study.

Contrary to popular assumption, people diagnosed with so-called mild forms of autism don’t fare any better in life than those with severe forms of the disorder. That’s the conclusion of a new study that suggests that even individuals with normal intelligence and language abilities struggle to fit into society because of their social and communication problems.

Two autism-associated genes that function at the synapse, the junction between neurons, are associated with severe intellectual disability, according to a study published 9 August in BMC Medical Genetics.