Spontaneous mutations that occur between genes may be as important in autism as those within genes.

A website called GeneMatcher has helped researchers identify a new gene for intellectual disability, developmental delay and autism.

Researchers are studying how a combination of genetic ‘hits’ may contribute to autism’s diversity.

No genetic test can say whether a person has autism, but it may point to a cause for the condition or for any related complications.

A pair of maps that depict variation in the human genome may help reveal the genetic roots of autism.

Watch the complete replay of Ivan Iossifov discussing the genetic basis of autism’s features.

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 […]

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.