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.

Many countries in Europe are reckoning with the growing demand for genetic tests for autistic people — and the accompanying ethical and scientific considerations.

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

This year’s list of top papers highlights new dimensions in our understanding of autism genetics and hints at novel treatments.

Whole-genome scans of nearly 8,000 people link autism to spontaneous mutations in the stretches of DNA that regulate genes.

The best way to deliver surprises from genetic findings is to provide adequate information and counseling alongside the results.

In autism research, as in other fields, small sample sizes can lead to false findings. The size of the sample needed for statistical significance depends on the type of study.

New biomedical techniques, like next-generation genome sequencing, are creating vast amounts of data and transforming the scientific landscape.