Large autism-linked mutations tend to be inherited in families with a history of the condition. By contrast, they often arise spontaneously in families with a single affected person.

Mutations in certain newly evolved stretches of the genome may play a role in autism, although some experts are skeptical of this theory.

A tie between first-trimester ultrasounds and autism severity is tenuous at best, misnamed genes litter the literature, and neuroscientists enjoy their version of summer camp.

A gene that raises the risk of autism in some people may also give humans an evolutionary boost.

Humans may be uniquely prone to rearrangements of chromosome 16 that lead to autism, according to preliminary results presented Saturday at the American Society of Human Genetics Annual Meeting in San Diego.

Too many or too few copies of a segment of chromosome 16 alters the three-dimensional organization of DNA, and affects hundreds of related genes.

Too few or too many copies of a genetic region linked to autism produce similar effects on intelligence and social skills but opposite effects on brain structure.

Most methods used to scan the genome are missing thousands of complex variants that alter DNA structure and may contribute to autism risk.

Collaboration and transparency will be key as scientists sort through thousands of whole genomes of people with autism for genetic clues.

In a feat of genetic engineering, researchers have found a way to recreate DNA duplications and deletions in human stem cells.