We are conducting a study focused on several rare autism-associated genetic variants.

Copy number variants:

• 2p16.3 deletion (NRXN1)
• 3q29 deletion
• 7q11.23 duplication
• 15q13.3 deletion
• 16p11.2 duplication
• 22q11.2 deletion

Single gene variants:

• ANKRD12
• ASH1L
• CACNA1G
• GRIN2A
• KDM6B
• NR3C2
• SETD1A
• SRRM2
• STAG1
• TRIO
• ZMYM2

We collaborate not only with large research cohorts, but also with family and advocacy groups. If you represent an organization supporting individuals with one of these variants and would like to learn more about our work, please contact us.