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.
Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing.
Authors: Authors: Sedlmeyer IL, Pearce CL, Trueman JA, Butler JL, Bersaglieri T, Read AP, Clayton PE, Kolonel LN, Henderson BE, Hirschhorn JN, Palmert MR.
J Clin Endocrinol Metab
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Genetic and genomic approaches to studying stature and pubertal timing.
Authors: Authors: Hirschhorn JN.
Pediatr Endocrinol Rev
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Genome-wide association studies for common diseases and complex traits.
Authors: Authors: Hirschhorn JN, Daly MJ.
Nat Rev Genet
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Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
Authors: Authors: Pearce CL, Hirschhorn JN, Wu AH, Burtt NP, Stram DO, Young S, Kolonel LN, Henderson BE, Altshuler D, Pike MC.
J Natl Cancer Inst
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Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study.
Authors: Authors: Freedman ML, Pearce CL, Penney KL, Hirschhorn JN, Kolonel LN, Henderson BE, Altshuler D.
Am J Hum Genet
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In genetic control of disease, does 'race' matter?
Authors: Authors: Goldstein DB, Hirschhorn JN.
Nat Genet
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Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes.
Authors: Authors: Florez JC, Sjögren M, Burtt N, Orho-Melander M, Schayer S, Sun M, Almgren P, Lindblad U, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, Groop L.
Diabetes
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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
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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
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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
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