Joel Hirschhorn headshot

Joel Naom Hirschhorn, M.D., Ph.D.

Chief of the Division of Endocrinology, Boston Children's Hospital
Concordia Professor of Pediatrics and Professor of Genetics, Harvard Medical School.
617-919-2129
Hirschhorn Lab Website
Replicating genotype-phenotype associations.
Authors: Authors: Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni JF, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hoh J, Hoover R, Kong CA, Merikangas KR, Morton CC, Palmer LJ, Phimister EG, Rice JP, Roberts J, Rotimi C, Tucker MA, Vogan KJ, Wacholder S, Wijsman EM, Winn DM, Collins FS.
Nature
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Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
Authors: Authors: Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, Florez JC, Meyer J, Ardlie K, Bengtsson Boström K, Isomaa B, Lettre G, Lindblad U, Lyon HN, Melander O, Newton-Cheh C, Nilsson P, Orho-Melander M, Råstam L, Speliotes EK, Taskinen MR, Tuomi T, Guiducci C, Berglund A, Carlson J, Gianniny L, Hackett R, Hall L, Holmkvist J, Laurila E, Sjögren M, Sterner M, Surti A, Svensson M, Svensson M, Tewhey R, Blumenstiel B, Parkin M, Defelice M, Barry R, Brodeur W, Camarata J, Chia N, Fava M, Gibbons J, Handsaker B, Healy C, Nguyen K, Gates C, Sougnez C, Gage D, Nizzari M, Gabriel SB, Chirn GW, Ma Q, Parikh H, Richardson D, Ricke D, Purcell S.
Science
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Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes.
Authors: Authors: Florez JC, Sjögren M, Agapakis CM, Burtt NP, Almgren P, Lindblad U, Berglund G, Tuomi T, Gaudet D, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, Groop L.
Diabetologia
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Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study.
Authors: Authors: Mitchell GF, Guo CY, Kathiresan S, Vasan RS, Larson MG, Vita JA, Keyes MJ, Vyas M, Newton-Cheh C, Musone SL, Camargo AL, Drake JA, Levy D, O'Donnell CJ, Hirschhorn JN, Benjamin EJ.
Hypertension
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Association studies of BMI and type 2 diabetes in the neuropeptide Y pathway: a possible role for NPY2R as a candidate gene for type 2 diabetes in men.
Authors: Authors: Campbell CD, Lyon HN, Nemesh J, Drake JA, Tuomi T, Gaudet D, Zhu X, Cooper RS, Ardlie KG, Groop LC, Hirschhorn JN.
Diabetes
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Genetic model testing and statistical power in population-based association studies of quantitative traits.
Authors: Authors: Lettre G, Lange C, Hirschhorn JN.
Genet Epidemiol
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The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts.
Authors: Authors: Lyon HN, Emilsson V, Hinney A, Heid IM, Lasky-Su J, Zhu X, Thorleifsson G, Gunnarsdottir S, Walters GB, Thorsteinsdottir U, Kong A, Gulcher J, Nguyen TT, Scherag A, Pfeufer A, Meitinger T, Brönner G, Rief W, Soto-Quiros ME, Avila L, Klanderman B, Raby BA, Silverman EK, Weiss ST, Laird N, Ding X, Groop L, Tuomi T, Isomaa B, Bengtsson K, Butler JL, Cooper RS, Fox CS, O'Donnell CJ, Vollmert C, Celedón JC, Wichmann HE, Hebebrand J, Stefansson K, Lange C, Hirschhorn JN.
PLoS Genet
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Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample.
Authors: Authors: Newton-Cheh C, Guo CY, Gona P, Larson MG, Benjamin EJ, Wang TJ, Kathiresan S, O'Donnell CJ, Musone SL, Camargo AL, Drake JA, Levy D, Hirschhorn JN, Vasan RS.
Hypertension
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Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations.
Authors: Authors: Gallagher CJ, Keene KL, Mychaleckyj JC, Langefeld CD, Hirschhorn JN, Henderson BE, Gordon CJ, Freedman BI, Rich SS, Bowden DW, Sale MM.
Diabetes
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Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.
Authors: Authors: Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Boström KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, Daly MJ, Frayling TM, Groop L, Altshuler D.
Diabetes
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