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Determinants of Penetrance and Variable Expressivity in Monogenic Metabolic Conditions Across 77,184 Exomes

Julia K. Goodrich,Moriel Singer-Berk,Rachel Son,Abigail Sveden,Jordan Wood,Eleina England,Joanne B. Cole,Ben Weisburd, Nick Watts,Lizz Caulkins,Peter Dornbos,Ryan Koesterer,Zachary Zappala,Haichen Zhang,Kristin A. Maloney,Andy Dahl,Carlos A. Aguilar-Salinas,Gil Atzmon,Francisco Barajas-Olmos,Nir Barzilai,John Blangero,Eric Boerwinkle,Lori L. Bonnycastle,Erwin Bottinger,Donald W. Bowden,Federico Centeno-Cruz,John C. Chambers,Nathalie Chami,Edmund Chan,Juliana Chan,Ching-Yu Cheng,Yoon Shin Cho,Cecilia Contreras-Cubas,Emilio Cordova,Adolfo Correa,Ralph A. DeFronzo,Ravindranath Duggirala,Josee Dupuis,Ma Eugenia Garay-Sevilla,Humberto Garcia-Ortiz,Christian Gieger,Benjamin Glaser,Clicerio Gonzalez-Villalpando,Ma Elena Gonzalez,Niels Grarup,Leif Groop,Myron Gross,Christopher Haiman,Sohee Han,Craig L. Hanis,Torben Hansen,Nancy L. Heard-Costa,Brian E. Henderson,Juan Manuel Malacara Hernandez,Mi Yeong Hwang,Sergio Islas-Andrade,Marit E. Jorgensen,Hyun Min Kang,Bong-Jo Kim,Young Jin Kim,Heikki A. Koistinen,Jaspal Singh Kooner,Johanna Kuusisto, Soo-Heon Kwak,Markku Laakso,Leslie Lange,Jong-Young Lee,Juyoung Lee,Donna M. Lehman,Allan Linneberg,Jianjun Liu,Ruth J. F. Loos,Valeriya Lyssenko,Ronald C. W. Ma,Angelica Martinez-Hernandez,James B. Meigs,Thomas Meitinger,Elvia Mendoza-Caamal,Karen L. Mohlke,Andrew D. Morris,Alanna C. Morrison,Maggie C. Y. Ng,Peter M. Nilsson,Christopher J. O'Donnell,Lorena Orozco,Colin N. A. Palmer,Kyong Soo Park,Wendy S. Post,Oluf Pedersen,Michael Preuss,Bruce M. Psaty,Alexander P. Reiner,Cristina Revilla-Monsalve,Stephen S. Rich,Jerome I. Rotter,Danish Saleheen, Claudia Schurmann,Xueling Sim,Rob Sladek,Kerrin S. Small,Wing Yee So,Timothy D. Spector,Konstantin Strauch,Tim M. Strom,E. Shyong Tai,Claudia H. T. Tam,Yik Ying Teo,Farook Thameem,Brian Tomlinson,Russell P. Tracy,Tiinamaija Tuomi,Jaakko Tuomilehto,Teresa Tusie-Luna,Rob M. van Dam,Ramachandran S. Vasan,James G. Wilson,Daniel R. Witte,Tien-Yin Wong,Noel P. Burtt,Noah Zaitlen,Mark I. McCarthy,Michael Boehnke,Toni I. Pollin,Jason Flannick,Josep M. Mercader,Anne O'Donnell-Luria,Samantha Baxter,Jose C. Florez,Daniel G. MacArthur,Miriam S. Udler

NATURE COMMUNICATIONS(2021)

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