Joel Naom Hirschhorn

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

Publications

In genetic control of disease, does 'race' matter?

Authors: Authors: Goldstein DB, Hirschhorn JN.
Nat Genet 2004-12-01
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Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort.

Authors: Authors: Freedman ML, Penney KL, Stram DO, Le Marchand L, Hirschhorn JN, Kolonel LN, Altshuler D, Henderson BE, Haiman CA.
Hum Mol Genet 2004-10-15
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Genetic signatures of strong recent positive selection at the lactase gene.

Authors: Authors: Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN.
Am J Hum Genet 2004-06-01
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Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region.

Authors: Authors: Florez JC, Burtt N, de Bakker PI, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D.
Diabetes 2004-05-01
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Maternal activating mutation of the calcium-sensing receptor: implications for calcium metabolism in the neonate.

Authors: Authors: Pagan YL, Hirschhorn J, Yang B, D'Souza-Li L, Majzoub JA, Hendy GN.
J Pediatr Endocrinol Metab 2004-04-01
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Assessing the impact of population stratification on genetic association studies.

Authors: Authors: Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, Henderson B, Hirschhorn JN, Altshuler D.
Nat Genet 2004-04-01
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A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort.

Authors: Authors: Haiman CA, Stram DO, Pike MC, Kolonel LN, Burtt NP, Altshuler D, Hirschhorn J, Henderson BE.
Hum Mol Genet 2003-10-15
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PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.

Authors: Authors: Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, Tamayo P, Spiegelman B, Lander ES, Hirschhorn JN, Altshuler D, Groop LC.
Nat Genet 2003-07-01
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Genetic epidemiology of type 1 diabetes.

Authors: Authors: Hirschhorn JN.
Pediatr Diabetes 2003-06-01
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Changing genes; losing lactase.

Authors: Authors: Grand RJ, Montgomery RK, Chitkara DK, Hirschhorn JN.
Gut 2003-05-01
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