The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

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.