Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.

Gene therapies and the factors influencing autism traits top Spectrum’s list of the 10 most notable research findings we covered in 2020.

People with autism who carry DNA variants in the same protein-coding region of a gene have more similar cognitive abilities and behaviors than those who carry mutations in different regions of the same gene.

Many people with mutations in the NCKAP1 gene have autism or autism traits, according to a new study spanning seven countries.

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.

Get the inside scoop from the 2020 American Society of Human Genetics annual meeting.

About 6.5 percent of autistic people in the United States also have dyslipidemia, a condition characterized by abnormal lipids levels in the blood.

Two new analyses help to explain why mutations to the chromosomal region 16p11.2 can lead to autism, intellectual disability or language difficulties.

A trove of DNA sequences from 141,456 people — and counting — offers an unparalleled look at genetic variation.

Individuals with mutations in an autism gene called TRIO may have a range of conditions, including intellectual disability and anomalous head size.