Rachel Oh

Area of Study / Keywords

Clinical Genetics; Tumor Predisposition Syndromes; Translational Genomics

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About

Dr. Youjin (Rachel) Oh, MD, FRCPC, FACMG, is a medical geneticist whose clinical practice spans prenatal, pediatric, adult, and hereditary cancer genetics. 

She earned her MD from Queen’s University and completed her Medical Genetics and Genomics residency at the University of Toronto. Prior to joining the University of Alberta, she was Assistant Professor at the Icahn School of Medicine at Mount Sinai in New York.

Her research focuses on tumor predisposition syndromes and neurodevelopmental disorders. She uses genomic technologies, clinical cohorts, and cross-disciplinary collaborations to resolve undiagnosed cases, investigate disease mechanisms, and establish trial-ready populations for precision therapies. She is also committed to integrating genomics into medical education and mentoring the next generation of medical geneticists.

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Research

Dr. Oh’s research focuses on tumor predisposition syndromes and monogenic neurodevelopmental disorders. In collaboration with bioinformaticians and basic scientists, she uses advanced genomic approaches to resolve rare, undiagnosed conditions and identify opportunities for precision medicine. Her work also aims to establish longitudinal, trial-ready cohorts to define natural disease histories, improve tumor surveillance, and advance targeted clinical trials and patient outcomes.

David Cheerie, Marlen C. Lauffer, Logan Newton, Kimberly Amburgey, Danique Beijer, Bushra Haque, Brian T. Kalish, Margaret M. Meserve, Rachel Y. Oh, Amy Y. Pan, Miriam S. Reuter, Michael J. Szego, Anna Szuto, Ana Lisa Taylor Tavares, Annemieke Aartsma-Rus, Aubrie Soucy Verran, Charu Kaiwar, Danique Beijer, David Cheerie, Emma Sherrill, Gregory Costain, Logan Newton, Margaret M. Meserve, Marlen C. Lauffer, Matthis Synofzik, Nicole Nolen, Stefanie Leonard, Stephan J. Sanders, Timothy W. Yu, Annemieke Aartsma-Rus, Michelle M. Axford, Ashish R. Deshwar, James J. Dowling, Christian R. Marshall, Zhenya Ivakine, Matthis Synofzik, Timothy W. Yu, Gregory Costain

Genetics in Medicine. 2026 January; 10.1016/j.gim.2025.101597

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Neta Pipko, Rachel Youjin Oh, Aiyana Kaplan, Andrea Shugar, Anna Szuto, Miriam Weinstein, Grace Yoon, Roberto Mendoza-Londono, Elena Pope, Ted Young, Christian R Marshall, Gregory Costain, Irene Lara-Corrales, Yiming Wang

British Journal of Dermatology. 2025 April; 10.1093/bjd/ljae462

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Rachel Youjin Oh, Michael Maier, Susan Blaser, Jessie Cameron, Cynthia Hawkins, Bruno Reversade, Grace Yoon

Journal of Medical Genetics. 2025 March; 10.1136/jmg-2024-110419

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Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain

Human Genetics and Genomics Advances. 2024 July; 10.1016/j.xhgg.2024.100299

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Rachel Youjin Oh, Kathy Chun, Paul E. Kowalski, David Chitayat

American Journal of Medical Genetics Part A. 2023 June; 10.1002/ajmg.a.63175

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Rachel Youjin Oh, Ashish R. Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Huayun Hou, Kyoko E. Yuki, Michael D. Wilson, Patrick Rump, Roelineke Lunsing, Noha Elserafy, Clara W.T. Chung, Stacy Hewson, Tanja Klein-Rodewald, Julia Calzada-Wack, Adrián Sanz-Moreno, Markus Kraiger, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis, James Dowling, Andreas Schulze

Genetics in Medicine. 2022 November; 10.1016/j.gim.2022.07.024

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Heikoop D, Brick L, Chitayat D, Colaiacovo S, Dupuis L, Faghfoury H, Goobie S, Mendoza R, Napier M, Nowaczyk M, Oh R, Silver J, Prasad C, Saleh M

American journal of medical genetics. Part A. 2021 August; 10.1002/ajmg.a.62452

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