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

The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.

The largest autism sequencing study to date implicates 99 genes in the condition — but nearly half have a tighter link to intellectual disability or developmental delay.

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

Over the past year, HNRNPU, a gene well known for its link to epilepsy, has emerged as a new autism candidate.

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