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

A new technique may reveal how mutations on the X chromosome alter various types of cells in the brain.

A newly expanded database of information from people in the United Kingdom provides a detailed picture of genetic diversity.

A new resource details the protein-coding portions of the genomes of 36 popular mouse strains.

Autism is more heritable than anorexia, alcohol dependence, depression and obsessive-compulsive disorder, according to an analysis of data from nearly 4.5 million people.

Genetic variants across the genome contribute to about 8 percent of the risk for certain developmental conditions — much more than previously thought.

Variants that control gene expression are often involved in whether a mutation ends up being harmful, and how harmful it is.

Software to identify genetic variants, along with a new synthetic human genome, could help scientists discover mutations associated with conditions such as autism.

A new method enables researchers to assess the biological impact of thousands of subtle mutations.