World's Best Scientists 2026 revealed!
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Best Female Scientists
2025

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Best Female Scientists

D-Index
120
Citations
63777
World Ranking
551
National Ranking
329

Medicine

D-Index
126
Citations
71195
World Ranking
2910
National Ranking
1615

Research.com Recognitions

  • 2025 - Research.com Best Female Scientists Award
  • 2020 - Member of the National Academy of Medicine (NAM)
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians

Overview

Wendy K. Chung is affiliated with Columbia University in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a focus on several specialized subfields including Genetics, Molecular Biology, Pulmonary and Respiratory Medicine, Surgery, and Epidemiology.

Their scholarly work addresses a wide array of topics such as Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Congenital Heart Defects research, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, Congenital Heart Disease Studies, and Genetic Associations and Epidemiology.

Among recent publications, notable papers include:

  • A genomic mutational constraint map using variation in 76,156 human genomes, 2023, Nature
  • Exome sequencing and characterization of 49,960 individuals in the UK Biobank, 2020, Nature
  • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses, 2020, Nature Genetics
  • ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG), 2021, Genetics in Medicine
  • Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials, 2020, The Lancet Diabetes & Endocrinology

Wendy K. Chung has collaborated frequently with other researchers, including Yufeng Shen, Julia Wynn, Chunhua Weng, Gail P. Jarvik, and Paul S. Appelbaum.

Their research output has been published extensively in several scientific venues. Frequent publication venues include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • The American Journal of Human Genetics
  • Nature Communications
  • Genetics in Medicine Open

Recognition for their contributions includes memberships in professional organizations such as the National Academy of Medicine (NAM) since 2020 and the Association of American Physicians.

Best Publications

  • Strong Association of De Novo Copy Number Mutations with Autism

    Jonathan Sebat;B. Lakshmi;Dheeraj Malhotra;Jennifer Troge

  • Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons.

    John T. Dimos;Kit T. Rodolfa;Kathy K. Niakan;Laurin M. Weisenthal

  • Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

    Karoline B. Kuchenbaecker;Karoline B. Kuchenbaecker;John L. Hopper;Daniel R. Barnes;Kelly-Anne Phillips

  • 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

  • Phenotypes of Mouse diabetes and Rat fatty Due to Mutations in the OB (Leptin) Receptor

    Streamson C. Chua;Wendy K. Chung;X. Sharon Wu-Peng;Yiying Zhang

  • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

    Elizabeth T. Cirulli;Brittany N Lasseigne;Slave Petrovski;Peter C Sapp

  • Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society

    Steven H. Abman;Georg Hansmann;Stephen L. Archer;D. Dunbar Ivy

  • De novo mutations in histone-modifying genes in congenital heart disease

    Samir Zaidi;Murim Choi;Hiroko Wakimoto;Lijiang Ma

  • Clinical application of whole-exome sequencing across clinical indications.

    Kyle Retterer;Jane Juusola;Megan T. Cho;Patrik Vitazka

  • Genetics and genomics of pulmonary arterial hypertension

    Florent Soubrier;Wendy K. Chung;Rajiv Machado;Ekkehard Grünig

  • De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

    Jason Homsy;Samir Zaidi;Yufeng Shen;James S. Ware;James S. Ware;James S. Ware

  • Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

    Sheng Chih Jin;Jason Homsy;Samir Zaidi;Qiongshi Lu

  • Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

    Siddharth Srivastava;Jamie A. Love-Nichols;Kira A. Dies;David H. Ledbetter

  • Gene expression patterns in blood leukocytes discriminate patients with acute infections

    Octavio Ramilo;Octavio Ramilo;Windy Allman;Wendy Chung;Wendy Chung;Asuncion Mejias;Asuncion Mejias

  • A novel channelopathy in pulmonary arterial hypertension.

    Lijiang Ma;Danilo Roman-Campos;Eric D. Austin;Mélanie Eyries

  • Observational study of spinal muscular atrophy type I and implications for clinical trials

    Richard S. Finkel;Michael P. McDermott;Petra Kaufmann;Basil T. Darras

  • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

    Timothy R. Rebbeck;Nandita Mitra;Fei Wan;Olga M. Sinilnikova

  • Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

    Mary Ella Pierpont;Martina Brueckner;Wendy K Chung;Vidu Garg

  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    Catherine M Phelan;Karoline B Kuchenbaecker;Karoline B Kuchenbaecker;Jonathan P Tyrer;Siddhartha P Kar

  • Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.

    Eric D. Austin;Lijiang Ma;Charles LeDuc;Erika Berman Rosenzweig

Frequent Co-Authors

Irene L. Andrulis
Irene L. Andrulis University of Toronto
Mary Beth Terry
Mary Beth Terry Columbia University
Christine E. Seidman
Christine E. Seidman Harvard University
Roger L. Milne
Roger L. Milne Cancer Council Victoria
Esther M. John
Esther M. John Stanford University
Yufeng Shen
Yufeng Shen Columbia University
Melissa C. Southey
Melissa C. Southey Monash University
Saundra S. Buys
Saundra S. Buys Huntsman Cancer Institute
Graham G. Giles
Graham G. Giles University of Melbourne
Mary B. Daly
Mary B. Daly Fox Chase Cancer Center

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