A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Front Genet 10, 611 (2019).
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).