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.
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
View full abstract on Pubmed
J Natl Cancer Inst
View full abstract on Pubmed
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
View full abstract on Pubmed
Am J Hum Genet
View full abstract on Pubmed
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
View full abstract on Pubmed
Diabetes
View full abstract on Pubmed
In genetic control of disease, does 'race' matter?
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
View full abstract on Pubmed
Hum Mol Genet
View full abstract on Pubmed
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
View full abstract on Pubmed
Am J Hum Genet
View full abstract on Pubmed
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
View full abstract on Pubmed
Diabetes
View full abstract on Pubmed
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
View full abstract on Pubmed
J Pediatr Endocrinol Metab
View full abstract on Pubmed
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
View full abstract on Pubmed
Nat Genet
View full abstract on Pubmed
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
View full abstract on Pubmed
Hum Mol Genet
View full abstract on Pubmed