Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
A variety of genetic risk factors for autism may disrupt some of the same processes in cells.
A newly expanded database of information from people in the United Kingdom provides a detailed picture of genetic diversity.
Carriers of fragile X premutations in Ricaurte, Colombia, have more medical problems than carriers living elsewhere — and discovering why might yield treatments for the syndrome.
The largest genetic analysis of postmortem brain tissue to date has yielded maps of when and where genes related to autism are turned on and off throughout life.
Whole-genome scans of nearly 8,000 people link autism to spontaneous mutations in the stretches of DNA that regulate genes.
Nearly one in four men who have a daughter with Rett syndrome carry mutations linked to the condition in some of their sperm.