My recommendations aim to foster a collaborative relationship between researchers and the Autistic community, resulting in an increase in the availability of genetic data.

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

Roche’s gene therapy drug Rugonersen boosts expression of the protein missing in the syndrome in mice and monkeys, but whether it works in people remains to be seen.

Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.

What these genes do and how they affect autism depends on when in development they’re studied, despite what classic ‘gene ontology’ analyses say.

Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.

The new tool may help researchers reconstruct the sequence of biological events that underlie development.

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.

The mutations occur spontaneously in noncoding stretches of DNA that control gene expression.

Women who carry genetic variants tied to autism have an elevated chance of experiencing pregnancy-related events linked to the condition in their children.