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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich, Julia K; Singer-Berk, Moriel; Son, Rachel; Sveden, Abigail; Wood, Jordan; England, Eleina; Cole, Joanne B; Weisburd, Ben; Watts, Nick; Caulkins, Lizz; Dornbos, Peter; Koesterer, Ryan; Zappala, Zachary; Zhang, Haichen; Maloney, Kristin A; Dahl, Andy; Aguilar-Salinas, Carlos A; Atzmon, Gil; Barajas-Olmos, Francisco; Barzilai, Nir; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L; Bottinger, Erwin; Bowden, Donald W; Centeno-Cruz, Federico; Chambers, John C; Chami, Nathalie; Chan, Edmund; Chan, Juliana; Cheng, Ching-Yu; Cho, Yoon Shin; Contreras-Cubas, Cecilia; Córdova, Emilio; Correa, Adolfo; DeFronzo, Ralph A; Duggirala, Ravindranath; Dupuis, Josée; Garay-Sevilla, Ma Eugenia; García-Ortiz, Humberto; Gieger, Christian; Glaser, Benjamin; González-Villalpando, Clicerio; Gonzalez, Ma Elena; Grarup, Niels; Groop, Leif; Gross, Myron; Haiman, Christopher; Han, Sohee; Hanis, Craig L.
Afiliação
  • 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.
  • Barajas-Olmos F; Faculty of Natural Science, University of Haifa, Haifa, Israel.
  • Barzilai N; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA.
  • Blangero J; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
  • Boerwinkle E; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.
  • Bonnycastle LL; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA.
  • Bottinger E; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX, USA.
  • Bowden DW; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
  • Centeno-Cruz F; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Chambers JC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Chami N; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Chan E; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Chan J; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Cheng CY; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Cho YS; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
  • Contreras-Cubas C; Department of Epidemiology and Biostatistics, Imperial College London, London, UK.
  • Córdova E; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
  • Correa A; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • DeFronzo RA; The Mindich Child Health and Development Institute, Ichan School of Medicine at Mount Sinai, New York, NY, USA.
  • Duggirala R; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.
  • Dupuis J; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
  • Garay-Sevilla ME; 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.
  • García-Ortiz H; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.
  • Gieger C; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.
  • Glaser B; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
  • González-Villalpando C; Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.
  • Gonzalez ME; Duke-NUS Medical School, Singapore, Singapore.
  • Grarup N; Department of Biomedical Science, Hallym University, Chuncheon, South Korea.
  • Groop L; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
  • Gross M; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
  • Haiman C; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
  • Han S; Department of Medicine, University of Texas Health San Antonio (aka University of Texas Health Science Center at San Antonio), San Antonio, TX, USA.
  • Hanis CL; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX, USA.
Nat Commun ; 12(1): 3505, 2021 06 09.
Article em En | MEDLINE | ID: mdl-34108472
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Diabetes Mellitus Tipo 2 / Dislipidemias Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Diabetes Mellitus Tipo 2 / Dislipidemias Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos