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

A new technique transforms the previous broad-brush picture of a brain region into a pointillist masterpiece of neuronal subpopulations associated with specific activities.

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

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 scientists to monitor the activity of key molecules involved in the growth and remodeling of connections in the brain.

Researchers can enjoy a complete collection of organoid-related publications, transgenerational effects on the brain are tied to a powerful estrogen, and an app that translates infant cries might aid autism research.

A new analysis of the genomes of more than 11,000 people reveals regions that have few mutations, indicating they have important functions.

We must diversify databases of reference DNA to improve our ability to interpret the consequences of genetic variation.

Neuroscientists are sounding the alarm about ‘pseudoreplication,’ a widespread practice that studs the literature with false results.

Nine U.S. clinics are pooling their data to create a registry of people who have an extra copy of a region on chromosome 15 called 15q11-13, a genetic abnormality often found in people with autism.