The loss of 21 genes on chromosome 3 may substantially raise the risk of autism.

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

A new computational method sifts true mutations from spurious ones in a single cell’s genome.

One of the leading theories of autism posits that girls and women are biologically protected from the condition.

In autism research, as in other fields, small sample sizes can lead to false findings. The size of the sample needed for statistical significance depends on the type of study.

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.