Genetic Changes We Study

The genetic changes we are studying are listed below. You’ll also find more information and resources about the conditions.

Click on a gene name and you will be directed to a page with information about that gene. Some genes have more information than others.

We are working on updating information for newly added genetic changes on our list. More information about each gene or CNV, along with its associated symptoms, is available at or Genetics Home Reference.

Download a copy of this list here.

Why do we pick these genes?

The Simons Searchlight team is studying genetic changes that have been associated with autism and neurodevelopmental disorders. We are committed to learning as much as we can about the genetics of developmental delay and autism. We know that families have many questions as they learn about their child’s genetic diagnosis.

Reliable information about genetic changes found during testing isn’t always available for families. With your help, we will be able to provide more information in the future to families who receive a diagnosis of a change in the genes listed above.