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
Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women.
Authors: Authors: Haiman CA, Dossus L, Setiawan VW, Stram DO, Dunning AM, Thomas G, Thun MJ, Albanes D, Altshuler D, Ardanaz E, Boeing H, Buring J, Burtt N, Calle EE, Chanock S, Clavel-Chapelon F, Colditz GA, Cox DG, Feigelson HS, Hankinson SE, Hayes RB, Henderson BE, Hirschhorn JN, Hoover R, Hunter DJ, Kaaks R, Kolonel LN, Le Marchand L, Lenner P, Lund E, Panico S, Peeters PH, Pike MC, Riboli E, Tjonneland A, Travis R, Trichopoulos D, Wacholder S, Ziegler RG.
Cancer Res
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A systematic assessment of common genetic variation in CYP11A and risk of breast cancer.
Authors: Authors: Setiawan VW, Cheng I, Stram DO, Giorgi E, Pike MC, Van Den Berg D, Pooler L, Burtt NP, Le Marchand L, Altshuler D, Hirschhorn J, Henderson BE, Haiman CA.
Cancer Res
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The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people.
Authors: Authors: Florez JC, Saxena R, Winckler W, Burtt NP, Almgren P, Bengtsson Boström K, Tuomi T, Gaudet D, Ardlie KG, Daly MJ, Altshuler D, Hirschhorn JN, Groop L.
Diabetes
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Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.
Authors: Authors: Lyon HN, Florez JC, Bersaglieri T, Saxena R, Winckler W, Almgren P, Lindblad U, Tuomi T, Gaudet D, Zhu X, Cooper R, Ardlie KG, Daly MJ, Altshuler D, Groop L, Hirschhorn JN.
Diabetes
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Transferability of tag SNPs in genetic association studies in multiple populations.
Authors: Authors: de Bakker PI, Burtt NP, Graham RR, Guiducci C, Yelensky R, Drake JA, Bersaglieri T, Penney KL, Butler J, Young S, Onofrio RC, Lyon HN, Stram DO, Haiman CA, Freedman ML, Zhu X, Cooper R, Groop L, Kolonel LN, Henderson BE, Daly MJ, Hirschhorn JN, Altshuler D.
Nat Genet
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Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals.
Authors: Authors: Saxena R, Gianniny L, Burtt NP, Lyssenko V, Giuducci C, Sjögren M, Florez JC, Almgren P, Isomaa B, Orho-Melander M, Lindblad U, Daly MJ, Tuomi T, Hirschhorn JN, Ardlie KG, Groop LC, Altshuler D.
Diabetes
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Haplotype-based association studies of IGFBP1 and IGFBP3 with prostate and breast cancer risk: the multiethnic cohort.
Authors: Authors: Cheng I, Penney KL, Stram DO, Le Marchand L, Giorgi E, Haiman CA, Kolonel LN, Pike M, Hirschhorn J, Henderson BE, Freedman ML.
Cancer Epidemiol Biomarkers Prev
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Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.
Authors: Authors: Saxena R, de Bakker PI, Singer K, Mootha V, Burtt N, Hirschhorn JN, Gaudet D, Isomaa B, Daly MJ, Groop L, Ardlie KG, Altshuler D.
Am J Hum Genet
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Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms.
Authors: Authors: Banerjee I, Trueman JA, Hall CM, Price DA, Patel L, Whatmore AJ, Hirschhorn JN, Read AP, Palmert MR, Clayton PE.
Eur J Endocrinol
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Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.
Authors: Authors: Morita H, Larson MG, Barr SC, Vasan RS, O'Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ.
Circulation
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