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

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Title: Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Authors: Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Son R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sveden A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wood J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., England E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Cole JB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Watts N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Caulkins L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Dornbos P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Koesterer R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Zappala Z; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Zhang H; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA., Maloney KA; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA., Dahl A; Department of Neurology, UCLA, Los Angeles, CA, USA., Aguilar-Salinas CA; Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, Mexico., Atzmon G; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.; Faculty of Natural Science, University of Haifa, Haifa, Israel.; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA., Barajas-Olmos F; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Barzilai N; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA., Blangero J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX, USA., Boerwinkle E; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Bonnycastle LL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Bottinger E; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Bowden DW; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Centeno-Cruz F; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Chambers JC; Department of Epidemiology and Biostatistics, Imperial College London, London, UK.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore., Chami N; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Ichan School of Medicine at Mount Sinai, New York, NY, USA., Chan E; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore., Chan J; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China., Cheng CY; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Duke-NUS Medical School, Singapore, Singapore., Cho YS; Department of Biomedical Science, Hallym University, Chuncheon, South Korea., Contreras-Cubas C; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Córdova E; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Correa A; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA., DeFronzo RA; Department of Medicine, University of Texas Health San Antonio (aka University of Texas Health Science Center at San Antonio), San Antonio, TX, USA., Duggirala R; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX, USA., Dupuis J; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Garay-Sevilla ME; Department of Medical Science, División of Health Science, University of Guanjuato. Campus León. León, Guanjuato, Mexico., García-Ortiz H; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Gieger C; Research Unit Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Glaser B; Endocrinology and Metabolism Service, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., González-Villalpando C; Unidad de Investigacion en Diabetes y Riesgo Cardiovascular, Instituto Nacional de Salud Publica, Cuernavaca, Mexico., Gonzalez ME; Centro de Estudios en Diabetes, Mexico City, Mexico., Grarup N; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Groop L; Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.; Institute for Molecular Genetics Finland, University of Helsinki, Helsinki, Finland., Gross M; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA., Haiman C; Department of Preventive Medicine, Keck School of Medicine of USC, Los Angeles, CA, USA., Han S; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea., Hanis CL; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Hansen T; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Heard-Costa NL; Boston University and National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Department of Neurology, Boston University School of Medicine, Boston, MA, USA., Henderson BE; Department of Preventive Medicine, Keck School of Medicine of USC, Los Angeles, CA, USA., Hernandez JMM; Department of Medical Science, División of Health Science, University of Guanjuato. Campus León. León, Guanjuato, Mexico., Hwang MY; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea., Islas-Andrade S; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Jørgensen ME; Steno Diabetes Center Copenhagen, Gentofte, Denmark.; National Institute of Public Health, University of Southern Denmark, Copenhagen, Denmark.; Greenland Centre for Health Research, University of Greenland, Nuuk, Greenland., Kang HM; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., Kim BJ; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea., Kim YJ; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea., Koistinen HA; Department of Public Health Solutions, Finnish Institute for Health and Welfare, Helsinki, Finland.; University of Helsinki and Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland.; Minerva Foundation Institute for Medical Research, Helsinki, Finland., Kooner JS; Department of Cardiology, Ealing Hospital, London North West Healthcare NHS Trust, London, UK.; MRC-PHE Centre for Environment and Health, Imperial College London, London, UK.; Imperial College Healthcare NHS Trust, Imperial College London, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK., Kuusisto J; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland., Kwak SH; Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea., Laakso M; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland., Lange L; Department of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA., Lee JY; Oneomics Soonchunhyang Mirae Medical Center, Bucheon-si Gyeonggi-do, Republic of Korea., Lee J; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea., Lehman DM; Department of Medicine, University of Texas Health San Antonio (aka University of Texas Health Science Center at San Antonio), San Antonio, TX, USA., Linneberg A; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Center for Clinical Research and Prevention, Bispebjerg and Frederiksberg Hospital, Copenhagen, Denmark.; Department of Clinical Experimental Research, Rigshospitalet, Copenhagen, Denmark., Liu J; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Genome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Ichan School of Medicine at Mount Sinai, New York, NY, USA., Lyssenko V; Centro de Estudios en Diabetes, Mexico City, Mexico.; Department of Clinical Science, University of Bergen, Bergen, Norway., Ma RCW; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China., Martínez-Hernández A; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Meigs JB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA., Meitinger T; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; German Centre for Cardiovascular Research (DZHK), Partner Site Munich Heart Alliance, Munich, Germany., Mendoza-Caamal E; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Mohlke KL; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA., Morris AD; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Department of Biostatistics, University of Liverpool, Liverpool, UK., Morrison AC; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Ng MCY; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Nilsson PM; Department of Clinical Sciences, Medicine, Lund University, Malmö, Sweden., O'Donnell CJ; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Section of Cardiology, Department of Medicine, VA Boston Healthcare, Boston, MA, USA.; Brigham and Women's Hospital, Boston, MA, USA.; Intramural Administration Management Branch, National Heart Lung and Blood Institute, NIH, Framingham, MA, USA., Orozco L; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Palmer CNA; Pat Macpherson Centre for Pharmacogenetics and Pharmacogenomics, University of Dundee, Dundee, UK., Park KS; Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea.; Department of Internal Medicine, Seoul National University College of Medicine, Seoul, South Korea.; Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, Seoul National University, Seoul, South Korea., Post WS; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., Pedersen O; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Preuss M; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Psaty BM; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, WA, USA.; Kaiser Permanente Washington Research Institute, Seattle, WA, USA., Reiner AP; Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Revilla-Monsalve C; Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Rich SS; Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center, Torrance, CA, USA., Saleheen D; Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, PA, USA.; Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA, USA.; Center for Non-Communicable Diseases, Karachi, Pakistan., Schurmann C; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Digital Health Center, Hasso Plattner Institute, University of Potsdam, Prof.-Dr.-Helmert-Str. 2-3, Potsdam, Germany.; Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA., Sim X; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore., Sladek R; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Division of Endocrinology and Metabolism, Department of Medicine, McGill University, Montreal, QC, Canada.; McGill University and Génome Québec Innovation Centre, Montreal, QC, Canada., Small KS; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., So WY; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Spector TD; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Strauch K; Institute of Genetic Epidemiology, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany.; Institute for Medical Informatics Biometry and Epidemiology, Ludwig-Maximilians University, Munich, Germany., Strom TM; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Tai ES; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Duke-NUS Medical School, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore., Tam CHT; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Teo YY; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Life Sciences Institute, National University of Singapore, Singapore, Singapore.; Department of Statistics and Applied Probability, National University of Singapore, Singapore, Singapore., Thameem F; Department of Biochemistry, Faculty of Medicine, Health Science Center, Kuwait University, Safat, Kuwait., Tomlinson B; Faculty of Medicine, Macau University of Science & Technology, Macau, China., Tracy RP; Department of Pathology and Laboratory Medicine, The Robert Larner M.D. College of Medicine, University of Vermont, Burlington, VT, USA.; Department of Biochemistry, The Robert Larner M.D. College of Medicine, University of Vermont, Burlington, VT, USA., Tuomi T; Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.; Institute for Molecular Genetics Finland, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Centre, Helsinki, Finland.; Department of Endocrinology, Abdominal Centre, Helsinki University Hospital, Helsinki, Finland.; Research Programs Unit, Clinical and Molecular Medicine, University of Helsinki, Helsinki, Finland., Tuomilehto J; Public Health Promotion Unit, Finnish Institute for Health and Welfare, Helsinki, Finland.; Department of Public Health, University of Helsinki, Helsinki, Finland.; Saudi Diabetes Research Group, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of International Health, National School of Public Health, Instituto de Salud Carlos III, Madrid, Spain., Tusié-Luna T; Unidad de Biología Molecular y Medicina Genómica, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Departamento de Medicina Genómica y Toxiología Ambiental, Instituto de Investigaciones Biomédicas, UNAM, Mexico City, Mexico., van Dam RM; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Department of Nutrition, Harvard School of Public Health, Boston, MA, USA., Vasan RS; Boston University and National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Preventive Medicine & Epidemiology, and Cardiovascular Medicine, Medicine, Boston University School of Medicine, and Epidemiology, Boston University School of Public health, Boston, MA, USA., Wilson JG; Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, USA., Witte DR; Department of Public Health, Aarhus University, Aarhus, Denmark.; Danish Diabetes Academy, Odense, Denmark., Wong TY; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Duke-NUS Medical School, Singapore, Singapore., Burtt NP; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Zaitlen N; Department of Neurology, UCLA, Los Angeles, CA, USA., McCarthy MI; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Genentech, South San Francisco, CA, USA., Boehnke M; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., Pollin TI; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA., Flannick J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Mercader JM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Baxter S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Florez JC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Udler MS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. mudler@mgh.harvard.edu.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. mudler@mgh.harvard.edu.; Department of Medicine, Harvard Medical School, Boston, MA, USA. mudler@mgh.harvard.edu.
Corporate Authors: AMP-T2D-GENES Consortia
Source: Nature communications [Nat Commun] 2021 Jun 09; Vol. 12 (1), pp. 3505. Date of Electronic Publication: 2021 Jun 09.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
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  Data: <searchLink fieldCode="AU" term="%22Goodrich+JK%22">Goodrich JK</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Singer-Berk+M%22">Singer-Berk M</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Son+R%22">Son R</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sveden+A%22">Sveden A</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Wood+J%22">Wood J</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22England+E%22">England E</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Cole+JB%22">Cole JB</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Weisburd+B%22">Weisburd B</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Watts+N%22">Watts N</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Caulkins+L%22">Caulkins L</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Dornbos+P%22">Dornbos P</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Koesterer+R%22">Koesterer R</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zappala+Z%22">Zappala Z</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+H%22">Zhang H</searchLink>; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Maloney+KA%22">Maloney KA</searchLink>; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Dahl+A%22">Dahl A</searchLink>; Department of Neurology, UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Aguilar-Salinas+CA%22">Aguilar-Salinas CA</searchLink>; Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Atzmon+G%22">Atzmon G</searchLink>; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.; Faculty of Natural Science, University of Haifa, Haifa, Israel.; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Barajas-Olmos+F%22">Barajas-Olmos F</searchLink>; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Barzilai+N%22">Barzilai N</searchLink>; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Blangero+J%22">Blangero J</searchLink>; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX, USA.<br /><searchLink fieldCode="AU" term="%22Boerwinkle+E%22">Boerwinkle E</searchLink>; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Bonnycastle+LL%22">Bonnycastle LL</searchLink>; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Bottinger+E%22">Bottinger E</searchLink>; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Bowden+DW%22">Bowden DW</searchLink>; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA.<br /><searchLink fieldCode="AU" term="%22Centeno-Cruz+F%22">Centeno-Cruz F</searchLink>; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Chambers+JC%22">Chambers JC</searchLink>; Department of Epidemiology and Biostatistics, Imperial College London, London, UK.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Chami+N%22">Chami N</searchLink>; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Ichan School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Chan+E%22">Chan E</searchLink>; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Chan+J%22">Chan J</searchLink>; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Cheng+CY%22">Cheng CY</searchLink>; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Duke-NUS Medical School, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Cho+YS%22">Cho YS</searchLink>; Department of Biomedical Science, Hallym University, Chuncheon, South Korea.<br /><searchLink fieldCode="AU" term="%22Contreras-Cubas+C%22">Contreras-Cubas C</searchLink>; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Córdova+E%22">Córdova E</searchLink>; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Correa+A%22">Correa A</searchLink>; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.<br /><searchLink fieldCode="AU" term="%22DeFronzo+RA%22">DeFronzo RA</searchLink>; Department of Medicine, University of Texas Health San Antonio (aka University of Texas Health Science Center at San Antonio), San Antonio, TX, USA.<br /><searchLink fieldCode="AU" term="%22Duggirala+R%22">Duggirala R</searchLink>; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX, USA.<br /><searchLink fieldCode="AU" term="%22Dupuis+J%22">Dupuis J</searchLink>; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Garay-Sevilla+ME%22">Garay-Sevilla ME</searchLink>; Department of Medical Science, División of Health Science, University of Guanjuato. Campus León. León, Guanjuato, Mexico.<br /><searchLink fieldCode="AU" term="%22García-Ortiz+H%22">García-Ortiz H</searchLink>; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Gieger+C%22">Gieger C</searchLink>; Research Unit Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.<br /><searchLink fieldCode="AU" term="%22Glaser+B%22">Glaser B</searchLink>; Endocrinology and Metabolism Service, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22González-Villalpando+C%22">González-Villalpando C</searchLink>; Unidad de Investigacion en Diabetes y Riesgo Cardiovascular, Instituto Nacional de Salud Publica, Cuernavaca, Mexico.<br /><searchLink fieldCode="AU" term="%22Gonzalez+ME%22">Gonzalez ME</searchLink>; Centro de Estudios en Diabetes, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Grarup+N%22">Grarup N</searchLink>; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Groop+L%22">Groop L</searchLink>; Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.; Institute for Molecular Genetics Finland, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Gross+M%22">Gross M</searchLink>; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Haiman+C%22">Haiman C</searchLink>; Department of Preventive Medicine, Keck School of Medicine of USC, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Han+S%22">Han S</searchLink>; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea.<br /><searchLink fieldCode="AU" term="%22Hanis+CL%22">Hanis CL</searchLink>; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Hansen+T%22">Hansen T</searchLink>; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Heard-Costa+NL%22">Heard-Costa NL</searchLink>; Boston University and National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Department of Neurology, Boston University School of Medicine, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Henderson+BE%22">Henderson BE</searchLink>; Department of Preventive Medicine, Keck School of Medicine of USC, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Hernandez+JMM%22">Hernandez JMM</searchLink>; Department of Medical Science, División of Health Science, University of Guanjuato. Campus León. León, Guanjuato, Mexico.<br /><searchLink fieldCode="AU" term="%22Hwang+MY%22">Hwang MY</searchLink>; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea.<br /><searchLink fieldCode="AU" term="%22Islas-Andrade+S%22">Islas-Andrade S</searchLink>; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Jørgensen+ME%22">Jørgensen ME</searchLink>; Steno Diabetes Center Copenhagen, Gentofte, Denmark.; National Institute of Public Health, University of Southern Denmark, Copenhagen, Denmark.; Greenland Centre for Health Research, University of Greenland, Nuuk, Greenland.<br /><searchLink fieldCode="AU" term="%22Kang+HM%22">Kang HM</searchLink>; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Kim+BJ%22">Kim BJ</searchLink>; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea.<br /><searchLink fieldCode="AU" term="%22Kim+YJ%22">Kim YJ</searchLink>; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea.<br /><searchLink fieldCode="AU" term="%22Koistinen+HA%22">Koistinen HA</searchLink>; Department of Public Health Solutions, Finnish Institute for Health and Welfare, Helsinki, Finland.; University of Helsinki and Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland.; Minerva Foundation Institute for Medical Research, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Kooner+JS%22">Kooner JS</searchLink>; Department of Cardiology, Ealing Hospital, London North West Healthcare NHS Trust, London, UK.; MRC-PHE Centre for Environment and Health, Imperial College London, London, UK.; Imperial College Healthcare NHS Trust, Imperial College London, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Kuusisto+J%22">Kuusisto J</searchLink>; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.<br /><searchLink fieldCode="AU" term="%22Kwak+SH%22">Kwak SH</searchLink>; Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Laakso+M%22">Laakso M</searchLink>; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.<br /><searchLink fieldCode="AU" term="%22Lange+L%22">Lange L</searchLink>; Department of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Lee+JY%22">Lee JY</searchLink>; Oneomics Soonchunhyang Mirae Medical Center, Bucheon-si Gyeonggi-do, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, South Korea.<br /><searchLink fieldCode="AU" term="%22Lehman+DM%22">Lehman DM</searchLink>; Department of Medicine, University of Texas Health San Antonio (aka University of Texas Health Science Center at San Antonio), San Antonio, TX, USA.<br /><searchLink fieldCode="AU" term="%22Linneberg+A%22">Linneberg A</searchLink>; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Center for Clinical Research and Prevention, Bispebjerg and Frederiksberg Hospital, Copenhagen, Denmark.; Department of Clinical Experimental Research, Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Liu+J%22">Liu J</searchLink>; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Genome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Loos+RJF%22">Loos RJF</searchLink>; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Ichan School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Lyssenko+V%22">Lyssenko V</searchLink>; Centro de Estudios en Diabetes, Mexico City, Mexico.; Department of Clinical Science, University of Bergen, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Ma+RCW%22">Ma RCW</searchLink>; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Martínez-Hernández+A%22">Martínez-Hernández A</searchLink>; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Meigs+JB%22">Meigs JB</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Meitinger+T%22">Meitinger T</searchLink>; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; German Centre for Cardiovascular Research (DZHK), Partner Site Munich Heart Alliance, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Mendoza-Caamal+E%22">Mendoza-Caamal E</searchLink>; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Mohlke+KL%22">Mohlke KL</searchLink>; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Morris+AD%22">Morris AD</searchLink>; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Department of Biostatistics, University of Liverpool, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Morrison+AC%22">Morrison AC</searchLink>; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Ng+MCY%22">Ng MCY</searchLink>; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA.<br /><searchLink fieldCode="AU" term="%22Nilsson+PM%22">Nilsson PM</searchLink>; Department of Clinical Sciences, Medicine, Lund University, Malmö, Sweden.<br /><searchLink fieldCode="AU" term="%22O'Donnell+CJ%22">O'Donnell CJ</searchLink>; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Section of Cardiology, Department of Medicine, VA Boston Healthcare, Boston, MA, USA.; Brigham and Women's Hospital, Boston, MA, USA.; Intramural Administration Management Branch, National Heart Lung and Blood Institute, NIH, Framingham, MA, USA.<br /><searchLink fieldCode="AU" term="%22Orozco+L%22">Orozco L</searchLink>; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Palmer+CNA%22">Palmer CNA</searchLink>; Pat Macpherson Centre for Pharmacogenetics and Pharmacogenomics, University of Dundee, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Park+KS%22">Park KS</searchLink>; Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea.; Department of Internal Medicine, Seoul National University College of Medicine, Seoul, South Korea.; Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, Seoul National University, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Post+WS%22">Post WS</searchLink>; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Pedersen+O%22">Pedersen O</searchLink>; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Preuss+M%22">Preuss M</searchLink>; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Psaty+BM%22">Psaty BM</searchLink>; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, WA, USA.; Kaiser Permanente Washington Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Reiner+AP%22">Reiner AP</searchLink>; Fred Hutchinson Cancer Research Center, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Revilla-Monsalve+C%22">Revilla-Monsalve C</searchLink>; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Rich+SS%22">Rich SS</searchLink>; Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Rotter+JI%22">Rotter JI</searchLink>; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center, Torrance, CA, USA.<br /><searchLink fieldCode="AU" term="%22Saleheen+D%22">Saleheen D</searchLink>; Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, PA, USA.; Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA, USA.; Center for Non-Communicable Diseases, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Schurmann+C%22">Schurmann C</searchLink>; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Digital Health Center, Hasso Plattner Institute, University of Potsdam, Prof.-Dr.-Helmert-Str. 2-3, Potsdam, Germany.; Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Sim+X%22">Sim X</searchLink>; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Sladek+R%22">Sladek R</searchLink>; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Division of Endocrinology and Metabolism, Department of Medicine, McGill University, Montreal, QC, Canada.; McGill University and Génome Québec Innovation Centre, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Small+KS%22">Small KS</searchLink>; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22So+WY%22">So WY</searchLink>; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Spector+TD%22">Spector TD</searchLink>; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Strauch+K%22">Strauch K</searchLink>; Institute of Genetic Epidemiology, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany.; Institute for Medical Informatics Biometry and Epidemiology, Ludwig-Maximilians University, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Strom+TM%22">Strom TM</searchLink>; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.<br /><searchLink fieldCode="AU" term="%22Tai+ES%22">Tai ES</searchLink>; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Duke-NUS Medical School, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Tam+CHT%22">Tam CHT</searchLink>; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Teo+YY%22">Teo YY</searchLink>; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Life Sciences Institute, National University of Singapore, Singapore, Singapore.; Department of Statistics and Applied Probability, National University of Singapore, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Thameem+F%22">Thameem F</searchLink>; Department of Biochemistry, Faculty of Medicine, Health Science Center, Kuwait University, Safat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Tomlinson+B%22">Tomlinson B</searchLink>; Faculty of Medicine, Macau University of Science & Technology, Macau, China.<br /><searchLink fieldCode="AU" term="%22Tracy+RP%22">Tracy RP</searchLink>; Department of Pathology and Laboratory Medicine, The Robert Larner M.D. College of Medicine, University of Vermont, Burlington, VT, USA.; Department of Biochemistry, The Robert Larner M.D. College of Medicine, University of Vermont, Burlington, VT, USA.<br /><searchLink fieldCode="AU" term="%22Tuomi+T%22">Tuomi T</searchLink>; Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.; Institute for Molecular Genetics Finland, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Centre, Helsinki, Finland.; Department of Endocrinology, Abdominal Centre, Helsinki University Hospital, Helsinki, Finland.; Research Programs Unit, Clinical and Molecular Medicine, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Tuomilehto+J%22">Tuomilehto J</searchLink>; Public Health Promotion Unit, Finnish Institute for Health and Welfare, Helsinki, Finland.; Department of Public Health, University of Helsinki, Helsinki, Finland.; Saudi Diabetes Research Group, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of International Health, National School of Public Health, Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Tusié-Luna+T%22">Tusié-Luna T</searchLink>; Unidad de Biología Molecular y Medicina Genómica, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Departamento de Medicina Genómica y Toxiología Ambiental, Instituto de Investigaciones Biomédicas, UNAM, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22van+Dam+RM%22">van Dam RM</searchLink>; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Department of Nutrition, Harvard School of Public Health, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Vasan+RS%22">Vasan RS</searchLink>; Boston University and National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Preventive Medicine & Epidemiology, and Cardiovascular Medicine, Medicine, Boston University School of Medicine, and Epidemiology, Boston University School of Public health, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Wilson+JG%22">Wilson JG</searchLink>; Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, USA.<br /><searchLink fieldCode="AU" term="%22Witte+DR%22">Witte DR</searchLink>; Department of Public Health, Aarhus University, Aarhus, Denmark.; Danish Diabetes Academy, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Wong+TY%22">Wong TY</searchLink>; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Duke-NUS Medical School, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Burtt+NP%22">Burtt NP</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zaitlen+N%22">Zaitlen N</searchLink>; Department of Neurology, UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22McCarthy+MI%22">McCarthy MI</searchLink>; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Genentech, South San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Boehnke+M%22">Boehnke M</searchLink>; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Pollin+TI%22">Pollin TI</searchLink>; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Flannick+J%22">Flannick J</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Mercader+JM%22">Mercader JM</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Baxter+S%22">Baxter S</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Florez+JC%22">Florez JC</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22MacArthur+DG%22">MacArthur DG</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Udler+MS%22">Udler MS</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. mudler@mgh.harvard.edu.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. mudler@mgh.harvard.edu.; Department of Medicine, Harvard Medical School, Boston, MA, USA. mudler@mgh.harvard.edu.
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  Data: <searchLink fieldCode="JN" term="%22101528555%22">Nature communications</searchLink> [Nat Commun] 2021 Jun 09; Vol. 12 (1), pp. 3505. <i>Date of Electronic Publication: </i>2021 Jun 09.
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      – TitleFull: Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
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    IsPartOfRelationships:
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          Dates:
            – D: 09
              M: 06
              Text: 2021 Jun 09
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 2041-1723
          Numbering:
            – Type: volume
              Value: 12
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Nature communications
              Type: main
ResultId 1