Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Julia K. Goodrich(Broad Institute), Craig L. Hanis(The University of Texas Health Science Center at Houston), Carlos A. Aguilar‐Salinas(Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán), Humberto Garcia‐Ortíz(National Institute of Genomic Medicine), Ryan Koesterer(Broad Institute), Federico Centeno-Cruz(George Washington University), Jordan C. Wood(Broad Institute), John C. Chambers(Nanyang Technological University), Zachary Zappala(Broad Institute), Abigail Sveden(Broad Institute), Ravindranath Duggirala(Texas Biomedical Research Institute), Ching‐Yu Cheng(Singapore National Eye Center), Rachel G. Son, Eleina England(Broad Institute), Ma. Eugenia Garay‐Sevilla, Sohee Han(Korea National Institute of Health), Clicerio González‐Villalpando, Eric Boerwinkle(Training Programs in Epidemiology and Public Health Interventions Network), Christopher Haiman, Edmund Chan, Gil Atzmon(Oranim Academic College of Education), Nathalie Chami(Icahn School of Medicine at Mount Sinai), Josée Dupuis(Boston University), Moriel Singer‐Berk(MACOM (United States)), Nir Barzilai(Albert Einstein College of Medicine), Nick Watts, Donald W. Bowden(Wake Forest University), Haichen Zhang, Joanne B. Cole(Broad Institute), Ben Weisburd(MACOM (United States)), Lizz Caulkins(Broad Institute), Yoon Shin Cho(Hallym University), Niels Grarup(University of Copenhagen), Francisco Barajas‐Olmos(Jackson Memorial Hospital), Erwin P. Böttinger(Regeneron (United States)), Ralph A. DeFronzo(The University of Texas at San Antonio Health Science Center), Leif Groop(Broad Institute), Lori L. Bonnycastle(National Institutes of Health), Myron Gross(University of Minnesota), Christian Gieger(Helmholtz Zentrum München), Benjamin Gläser(Donauspital), Kristin A. Maloney, Cecilia Contreras-Cubas(Broad Institute), Peter Dornbos(Regeneron (United States)), Juliana C.N. Chan(Chinese University of Hong Kong), Adolfo Correa(Jackson Memorial Hospital), Andy Dahl, Emilio J. Córdova(National Institute of Genomic Medicine), Ma Elena Gonzalez, John Blangero(The University of Texas at San Antonio Health Science Center)
Carolina Digital Repository (University of North Carolina at Chapel Hill)
January 1, 2021
Cited by 0


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