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Bryn D Webb, MD
ADJUNCT ASSISTANT PROFESSOR | Genetics and Genomic Sciences
ADJUNCT ASSISTANT PROFESSOR | Genetics and Genomic Sciences
email
email
Biography
Biography
Research Topics
Gene Discovery, Genetics, Human Genetics and Genetic Disorders
Gene Discovery, Genetics, Human Genetics and Genetic Disorders
Publications
Publications
48
Publications
Selected Publications
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D. Hoang, Wu Lin Charng, Tanvitha Kotla, Weimin Yuan, Keito Ishibashi, Sonia Sebaoui, Kathryn Luedtke, Bryce Winrow, Rebecca D. Ganetzky, Anna Ruiz, Carmen Manso-Basúz, Nino Spataro, Peter Kannu, Taryn Athey, Christina Peroutka, Caitlin Barnes, Richard Sidlow, George Anadiotis, Kari Magnussen, Irene Valenzuela, Alejandro Moles-Fernandez, Seth Berger, Christina L. Grant, Eric Vilain, Gudny A. Arnadottir, Patrick Sulem, Telma S. Sulem, Kari Stefansson, Shavonne Massey, Natalie Ginn, Annapurna Poduri, Alissa M. D'Gama, Rozalia Valentine, Sara K. Trowbridge, Chaya N. Murali, Rachel Franciskovich, Yen Tran, Bryn D. Webb, Kim M. Keppler-Noreuil, April L. Hall, Bobbi McGivern, Kristin G. Monaghan, Maria J. Guillen Sacoto, Dustin Baldridge, Gary A. Silverman, Sonika Dahiya, Tychele N. Turner, Tim Schedl, Joshua G. Corbin, Stephen C. Pak, Irene E. Zohn, Christina A. Gurnett.
American Journal of Human Genetics
Generation of induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25.
Sophia E. Salemi, Erdene Baljinnyam, Norman N. Liu, Ruiqi Hu, Samuele G. Marro, Bryn D. Webb.
Stem Cell Research
An algorithm to identify patients aged 0–3 with rare genetic disorders.
Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt, Li Li.
Orphanet Journal of Rare Diseases
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