An analysis of four mouse models negates certain assumptions underlying the signaling imbalance theory of autism.

An analysis of DNA from more than 20,000 people with autism identifies 12 regions in the genome that harbor inherited risk factors for the condition.

Two independent sets of mice missing a copy of SETD5, a top autism gene, link the gene to the condition’s traits.

People with autism may show scant activity in a poorly understood molecular process thought to regulate gene expression.

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

An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 49 new genes.

A count of genetic variants may help predict a person’s risk of various conditions — but its clinical use prompts ethical questions.

Una remota ciudad colombiana es el hogar del grupo más grande de personas con síndrome de X frágil. Los científicos están aprendiendo de ellos y tratando de ayudar.

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 article is also available in anglais. Il y a quelques années la mère d’un jeune autiste m’a téléphoné. Elle venait d’apprendre que son fils, qui était dans la vingtaine, avait une délétion de SHANK3, l’un des gènes qui, d’après les découvertes de mon équipe, subit une mutation chez certaines personnes autistes. Cette nouvelle m’a […]