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
Genome-wide association studies for complex traits: consensus, uncertainty and challenges.
Authors: Authors: McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN.
Nat Rev Genet
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Identification of ten loci associated with height highlights new biological pathways in human growth.
Authors: Authors: Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S, Eyheramendy S, Voight BF, Butler JL, Guiducci C, Illig T, Hackett R, Heid IM, Jacobs KB, Lyssenko V, Uda M, Boehnke M, Chanock SJ, Groop LC, Hu FB, Isomaa B, Kraft P, Peltonen L, Salomaa V, Schlessinger D, Hunter DJ, Hayes RB, Abecasis GR, Wichmann HE, Mohlke KL, Hirschhorn JN.
Nat Genet
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On the replication of genetic associations: timing can be everything!
Authors: Authors: Lasky-Su J, Lyon HN, Emilsson V, Heid IM, Molony C, Raby BA, Lazarus R, Klanderman B, Soto-Quiros ME, Avila L, Silverman EK, Thorleifsson G, Thorsteinsdottir U, Kronenberg F, Vollmert C, Illig T, Fox CS, Levy D, Laird N, Ding X, McQueen MB, Butler J, Ardlie K, Papoutsakis C, Dedoussis G, O'Donnell CJ, Wichmann HE, Celedón JC, Schadt E, Hirschhorn J, Weiss ST, Stefansson K, Lange C.
Am J Hum Genet
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The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects.
Authors: Authors: McAteer JB, Prudente S, Bacci S, Lyon HN, Hirschhorn JN, Trischitta V, Florez JC.
Diabetes
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A survey of allelic imbalance in F1 mice.
Authors: Authors: Campbell CD, Kirby A, Nemesh J, Daly MJ, Hirschhorn JN.
Genome Res
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Polymorphisms associated with cholesterol and risk of cardiovascular events.
Authors: Authors: Kathiresan S, Melander O, Anevski D, Guiducci C, Burtt NP, Roos C, Hirschhorn JN, Berglund G, Hedblad B, Groop L, Altshuler DM, Newton-Cheh C, Orho-Melander M.
N Engl J Med
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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Authors: Authors: Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A.
Proc Natl Acad Sci U S A
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Comprehensive evaluation of ESR2 variation and ovarian cancer risk.
Authors: Authors: Leigh Pearce C, Near AM, Butler JL, Van Den Berg D, Bretsky P, Conti DV, Stram DO, Pike MC, Hirschhorn JN, Wu AH.
Cancer Epidemiol Biomarkers Prev
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Common variants in the GDF5-UQCC region are associated with variation in human height.
Authors: Authors: Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen WM, Bonnycastle LL, Shen H, Timpson N, Lettre G, Usala G, Chines PS, Stringham HM, Scott LJ, Dei M, Lai S, Albai G, Crisponi L, Naitza S, Doheny KF, Pugh EW, Ben-Shlomo Y, Ebrahim S, Lawlor DA, Bergman RN, Watanabe RM, Uda M, Tuomilehto J, Coresh J, Hirschhorn JN, Shuldiner AR, Schlessinger D, Collins FS, Davey Smith G, Boerwinkle E, Cao A, Boehnke M, Abecasis GR, Mohlke KL.
Nat Genet
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Haplotypes of the estrogen receptor beta gene and breast cancer risk.
Authors: Authors: Cox DG, Bretsky P, Kraft P, Pharoah P, Albanes D, Altshuler D, Amiano P, Berglund G, Boeing H, Buring J, Burtt N, Calle EE, Canzian F, Chanock S, Clavel-Chapelon F, Colditz GA, Feigelson HS, Haiman CA, Hankinson SE, Hirschhorn J, Henderson BE, Hoover R, Hunter DJ, Kaaks R, Kolonel L, LeMarchand L, Lund E, Palli D, Peeters PH, Pike MC, Riboli E, Stram DO, Thun M, Tjonneland A, Travis RC, Trichopoulos D, Yeager M.
Int J Cancer
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