J
Jose C. Florez
Researcher at Harvard University
Publications - 414
Citations - 58686
Jose C. Florez is an academic researcher from Harvard University. The author has contributed to research in topics: Type 2 diabetes & Diabetes mellitus. The author has an hindex of 87, co-authored 357 publications receiving 50750 citations. Previous affiliations of Jose C. Florez include George Washington University & University of California, Davis.
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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 M. England,Joanne B. Cole,Ben Weisburd,Nicholas A. Watts,Zachary Zappala,Haichen Zhang,Kristin A. Maloney,Andrew Dahl,Carlos A. Aguilar-Salinas,Gil Atzmon,Gil Atzmon,Francisco Barajas-Olmos,Nir Barzilai,John Blangero,Eric Boerwinkle,Eric Boerwinkle,Lori L. Bonnycastle,Erwin P. Bottinger,Donald W. Bowden,Federico Centeno-Cruz,John C. Chambers,John C. Chambers,Nathalie Chami,Nathalie Chami,Edmund Chan,Juliana C.N. Chan,Ching-Yu Cheng,Yoon Shin Cho,Cecilia Contreras-Cubas,Emilio J. Cordova,Adolfo Correa,Ralph A. DeFronzo,Ravindranath Duggirala,Josée Dupuis,Ma. Eugenia Garay-Sevilla,Humberto García-Ortiz,Christian Gieger,Benjamin Glaser,Clicerio González-Villalpando,Ma Elena Gonzalez,Niels Grarup,Leif Groop,Leif Groop,Myron D. Gross,Christopher A. 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. Jørgensen,Marit E. Jørgensen,Marit E. Jørgensen,Hyun Min Kang,Bong-Jo Kim,Young-Jin Kim,Heikki A. Koistinen,Heikki A. Koistinen,Heikki A. Koistinen,Jaspal S. Kooner,Johanna Kuusisto,Soo Heon Kwak,Markku Laakso,Leslie A. Lange,Jong-Young Lee,Juyoung Lee,Donna M. Lehman,Allan Linneberg,Allan Linneberg,Jianjun Liu,Jianjun Liu,Ruth J. F. Loos,Ruth J. F. Loos,Valeriya Lyssenko,Valeriya Lyssenko,Ronald C.W. Ma,Angélica Martínez-Hernández,James B. Meigs,James B. Meigs,Thomas Meitinger,Elvia Mendoza-Caamal,Karen L. Mohlke,Andrew D. Morris,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,Kyong Soo Park,Kyong Soo Park,Wendy S. Post,Oluf Pedersen,Michael Preuss,Bruce M. Psaty,Bruce M. Psaty,Alexander P. Reiner,Cristina Revilla-Monsalve,Stephen S. Rich,Jerome I. Rotter,Danish Saleheen,Claudia Schurmann,Claudia Schurmann,Xueling Sim,Robert Sladek,Kerrin S. Small,Wing-Yee So,Xavier Soberón,Tim 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 Tusié-Luna,Rob M. van Dam,Rob M. van Dam,Ramachandran S. Vasan,James G. Wilson,Daniel R. Witte,Tien Yin Wong,Lizz Caulkins,Noël P. Burtt,Noah Zaitlen,Mark I. McCarthy,Mark I. McCarthy,Michael Boehnke,Toni I. Pollin,Jason Flannick,Jason Flannick,Jason Flannick,Josep M. Mercader,Josep M. Mercader,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Samantha Baxter,Jose C. Florez,Jose C. Florez,Daniel G. MacArthur,Daniel G. MacArthur,Miriam S. Udler-Aubrey,Miriam S. Udler-Aubrey,for Amp-T D-Genes Consortia +158 more
TL;DR: Additional epidemiologic and genetic factors contributing to risk prediction are assessed, demonstrating that inclusion of common polygenic variation significantly improved biomarker estimation for two monogenic dyslipidemias.
Journal ArticleDOI
Genetic variants associated with fasting glucose and insulin concentrations in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) study
Megan D. Fesinmeyer,James B. Meigs,Kari E. North,Fredrick R. Schumacher,Petra Bůžková,Nora Franceschini,Jeff Haessler,Robert Goodloe,Kylee L. Spencer,Venkata Saroja Voruganti,Barbara V. Howard,Rebecca D. Jackson,Laurence N. Kolonel,Simin Liu,JoAnn E. Manson,Kristine R. Monroe,Kenneth J. Mukamal,Holli H. Dilks,Sarah A. Pendergrass,Andrew Nato,Peggy Wan,Lynne R. Wilkens,Loic Le Marchand,José Luis Ambite,Steven Buyske,Jose C. Florez,Dana C. Crawford,Lucia A. Hindorff,Christopher A. Haiman,Ulrike Peters,James S. Pankow +30 more
TL;DR: Generalization of results across multiple racial/ethnic groups helps confirm the relevance of some of these loci for glucose and insulin metabolism, and Lack of association in non-EA groups may be due to insufficient power, or to unique patterns of linkage disequilibrium.
Journal ArticleDOI
Common variation at PPARGC1A/B and change in body composition and metabolic traits following preventive interventions: the Diabetes Prevention Program.
Paul W. Franks,Costas A. Christophi,Kathleen A. Jablonski,Liana K. Billings,Linda M. Delahanty,Edward S. Horton,William C. Knowler,Jose C. Florez,Jose C. Florez +8 more
TL;DR: These findings provide several novel and other confirmatory insights into the role of PPARGC1A variation with respect to diabetes-related metabolic traits.
Journal ArticleDOI
Hip geometry variation is associated with bone mineralization pathway gene variants: The Framingham Study.
Ching-Lung Cheung,Gregory Livshits,Yanhua Zhou,James B. Meigs,Jarred B. McAteer,Jarred B. McAteer,Jose C. Florez,Jose C. Florez,L. Adrienne Cupples,Serkalem Demissie,Douglas P. Kiel,David Karasik +11 more
TL;DR: Evidence is found for association of bone geometry variation with an SNP in ENPP1, a gene in the mineralization pathway, and the alteration of a binding site of the deregulator of extracellular matrix HOXA7 warrants further investigation.
Journal ArticleDOI
An ancient founder mutation in PROKR2 impairs human reproduction
Magdalena Avbelj Stefanija,Magdalena Avbelj Stefanija,Marc Jeanpierre,Gerasimos P. Sykiotis,Jacques Young,Richard Quinton,Ana Paula Abreu,Lacey Plummer,Margaret G. Au,Ravikumar Balasubramanian,Andrew A. Dwyer,Jose C. Florez,Tim Cheetham,Simon H. S. Pearce,Radhika Purushothaman,Albert Schinzel,Michel Pugeat,Elka Jacobson-Dickman,Svetlana Ten,Ana Claudia Latronico,James F. Gusella,James F. Gusella,Catherine Dodé,William F. Crowley,Nelly Pitteloud +24 more
TL;DR: The paradoxical identification of an ancient founder mutation that impairs reproduction has intriguing implications for the inheritance mechanisms of PROKR2 L173R-associated GnRH deficiency and for the relevant processes of evolutionary selection, including potential selective advantages of mutation carriers in genes affecting reproduction.