Wendy K. Chung

Wendy K. Chung’s indexed work centers on the genetic architecture of complex congenital and pediatric conditions, often using whole-exome and copy-number variant analyses. As senior author on a landmark *Science* study, she demonstrated that de novo mutations are a major cause of congenital heart disease when accompanied by neurodevelopmental anomalies, a finding cited over 900 times. Her research also identified a novel channelopathy underlying pulmonary arterial hypertension (published in the *New England Journal of Medicine*) and subsequently linked the *Caveolin-1* gene to the same disease through whole-exome sequencing. In parallel, she has characterized the clinical impact of recurrent copy-number variants, including detailed cognitive and behavioral phenotypes for the 16p11.2 deletion and duplication in large patient cohorts. Beyond her lead-author contributions, Chung has been a key collaborator on foundational genomic studies, including the 2007 *Science* paper establishing a strong association of de novo copy number mutations with autism and the 2017 *JAMA* meta-analysis quantifying breast cancer risks for *BRCA1/2* mutation carriers. She contributed to the ACMG recommendations for reporting secondary findings in clinical sequencing and to the gnomAD consortium’s