Wendy K. Chung

Research Statement

AI generated · 1d ago

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 genomic mutational constraint map. Her work also extends to rare disease consortia, such as the exome sequencing study that identified risk genes in amyotrophic lateral sclerosis. Across these efforts, Chung’s research consistently bridges large-scale genomic discovery with direct clinical translation in rare and common diseases.

Most Cited Works

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf, Kent D McKelvey, Kelly E Ormond, C Sue Richards, Christopher N Vlangos, Michael Watson, Christa L Martin, David T Miller

Genetics in Medicine2016

1,728Citations

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Research Areas

Genomics and Rare DiseasesBRCA gene mutations in cancerCongenital heart defects researchGenetics and Neurodevelopmental DisorderGenomic variations and chromosomal abnor

Affiliations & Education

Education

1993–2025
Rockefeller University(US)
PhD
Joan and Sanford I Weill Medical College of Cornell University(US)
MD

Employment

2024–present· now
Boston Children's Hospital(US)
Chief · Department of Pediatrics

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