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

Publications

Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.

Authors: Authors: Sankaran VG, Menne TF, Xu J, Akie TE, Lettre G, Van Handel B, Mikkola HK, Hirschhorn JN, Cantor AB, Orkin SH.
Science 2008-12-19
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Ultraconserved elements: analyses of dosage sensitivity, motifs and boundaries.

Authors: Authors: Chiang CW, Derti A, Schwartz D, Chou MF, Hirschhorn JN, Wu CT.
Genetics 2008-12-01
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Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.

Authors: Authors: Gajdos ZK, Butler JL, Henderson KD, He C, Supelak PJ, Egyud M, Price A, Reich D, Clayton PE, Le Marchand L, Hunter DJ, Henderson BE, Palmert MR, Hirschhorn JN.
J Clin Endocrinol Metab 2008-11-01
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Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations.

Authors: Authors: Orho-Melander M, Melander O, Guiducci C, Perez-Martinez P, Corella D, Roos C, Tewhey R, Rieder MJ, Hall J, Abecasis G, Tai ES, Welch C, Arnett DK, Lyssenko V, Lindholm E, Saxena R, de Bakker PI, Burtt N, Voight BF, Hirschhorn JN, Tucker KL, Hedner T, Tuomi T, Isomaa B, Eriksson KF, Taskinen MR, Wahlstrand B, Hughes TE, Parnell LD, Lai CQ, Berglund G, Peltonen L, Vartiainen E, Jousilahti P, Havulinna AS, Salomaa V, Nilsson P, Groop L, Altshuler D, Ordovas JM, Kathiresan S.
Diabetes 2008-11-01
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Genome-wide association studies: potential next steps on a genetic journey.

Authors: Authors: McCarthy MI, Hirschhorn JN.
Hum Mol Genet 2008-10-15
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Genome-wide association studies: past, present and future.

Authors: Authors: McCarthy MI, Hirschhorn JN.
Hum Mol Genet 2008-10-15
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DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.

Authors: Authors: Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH.
Proc Natl Acad Sci U S A 2008-08-19
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Liver fat is reproducibly measured using computed tomography in the Framingham Heart Study.

Authors: Authors: Speliotes EK, Massaro JM, Hoffmann U, Foster MC, Sahani DV, Hirschhorn JN, O'Donnell CJ, Fox CS.
J Gastroenterol Hepatol 2008-06-01
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Common variants near MC4R are associated with fat mass, weight and risk of obesity.

Authors: Authors: Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI, Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GD, Day I, Dina C, De S, Dermitzakis ET, Doney AS, Elliott KS, Elliott P, Evans DM, Sadaf Farooqi I, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Herrera B, Hinney A, Hunt SE, Jarvelin MR, Johnson T, Jolley JD, Karpe F, Keniry A, Khaw KT, Luben RN, Mangino M, Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O'Rahilly S, Owen KR, Palmer CN, Papadakis K, Potter S, Pouta A, Qi L, Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA, Song K, Soranzo N, Speliotes EK, Syddall HE, Teichmann SA, Timpson NJ, Tobias JH, Uda M, Vogel CI, Wallace C, Waterworth DM, Weedon MN, Willer CJ, Yuan X, Zeggini E, Hirschhorn JN, Strachan DP, Ouwehand WH, Caulfield MJ, Samani NJ, Frayling TM, Vollenweider P, Waeber G, Mooser V, Deloukas P, McCarthy MI, Wareham NJ, Barroso I, Jacobs KB, Chanock SJ, Hayes RB, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Kraft P, Hankinson SE, Hunter DJ, Hu FB, Lyon HN, Voight BF, Ridderstrale M, Groop L, Scheet P, Sanna S, Abecasis GR, Albai G, Nagaraja R, Schlessinger D, Jackson AU, Tuomilehto J, Collins FS, Boehnke M, Mohlke KL.
Nat Genet 2008-06-01
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Bona fide genetic associations with bone mineral density.

Authors: Authors: Hirschhorn JN, Gennari L.
N Engl J Med 2008-05-29
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