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
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
Authors: Authors: Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A.
Am J Med Genet A
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Replication and fine mapping of asthma-associated loci in individuals of African ancestry.
Authors: Authors: Kantor DB, Palmer CD, Young TR, Meng Y, Gajdos ZK, Lyon H, Price AL, Pollack S, London SJ, Loehr LR, Smith LJ, Kumar R, Jacobs DR, Petrini MF, O'Connor GT, White WB, Papanicolaou G, Burkart KM, Heckbert SR, Barr RG, Hirschhorn JN.
Hum Genet
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Association between variants in or near PNPLA3, GCKR, and PPP1R3B with ultrasound-defined steatosis based on data from the third National Health and Nutrition Examination Survey.
Authors: Authors: Hernaez R, McLean J, Lazo M, Brancati FL, Hirschhorn JN, Borecki IB, Harris TB, Nguyen T, Kamel IR, Bonekamp S, Eberhardt MS, Clark JM, Kao WH, Speliotes EK.
Clin Gastroenterol Hepatol
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Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
Authors: Authors: Carmichael H, Shen Y, Nguyen TT, Hirschhorn JN, Dauber A.
Clin Genet
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Genome-wide association study of age at menarche in African-American women.
Authors: Authors: Demerath EW, Liu CT, Franceschini N, Chen G, Palmer JR, Smith EN, Chen CT, Ambrosone CB, Arnold AM, Bandera EV, Berenson GS, Bernstein L, Britton A, Cappola AR, Carlson CS, Chanock SJ, Chen W, Chen Z, Deming SL, Elks CE, Evans MK, Gajdos Z, Henderson BE, Hu JJ, Ingles S, John EM, Kerr KF, Kolonel LN, Le Marchand L, Lu X, Millikan RC, Musani SK, Nock NL, North K, Nyante S, Press MF, Rodriquez-Gil JL, Ruiz-Narvaez EA, Schork NJ, Srinivasan SR, Woods NF, Zheng W, Ziegler RG, Zonderman A, Heiss G, Gwen Windham B, Wellons M, Murray SS, Nalls M, Pastinen T, Rajkovic A, Hirschhorn J, Adrienne Cupples L, Kooperberg C, Murabito JM, Haiman CA.
Hum Mol Genet
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Meta-analysis of gene-level associations for rare variants based on single-variant statistics.
Authors: Authors: Hu YJ, Berndt SI, Gustafsson S, Ganna A, Hirschhorn J, North KE, Ingelsson E, Lin DY.
Am J Hum Genet
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Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
Authors: Authors: Bønnelykke K, Matheson MC, Pers TH, Granell R, Strachan DP, Alves AC, Linneberg A, Curtin JA, Warrington NM, Standl M, Kerkhof M, Jonsdottir I, Bukvic BK, Kaakinen M, Sleimann P, Thorleifsson G, Thorsteinsdottir U, Schramm K, Baltic S, Kreiner-Møller E, Simpson A, St Pourcain B, Coin L, Hui J, Walters EH, Tiesler CMT, Duffy DL, Jones G, Ring SM, McArdle WL, Price L, Robertson CF, Pekkanen J, Tang CS, Thiering E, Montgomery GW, Hartikainen AL, Dharmage SC, Husemoen LL, Herder C, Kemp JP, Elliot P, James A, Waldenberger M, Abramson MJ, Fairfax BP, Knight JC, Gupta R, Thompson PJ, Holt P, Sly P, Hirschhorn JN, Blekic M, Weidinger S, Hakonarsson H, Stefansson K, Heinrich J, Postma DS, Custovic A, Pennell CE, Jarvelin MR, Koppelman GH, Timpson N, Ferreira MA, Bisgaard H, Henderson AJ.
Nat Genet
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Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
Authors: Authors: Wang SR, Carmichael H, Andrew SF, Miller TC, Moon JE, Derr MA, Hwa V, Hirschhorn JN, Dauber A.
J Clin Endocrinol Metab
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Association of adiposity genetic variants with menarche timing in 92,105 women of European descent.
Authors: Authors: Fernández-Rhodes L, Demerath EW, Cousminer DL, Tao R, Dreyfus JG, Esko T, Smith AV, Gudnason V, Harris TB, Launer L, McArdle PF, Yerges-Armstrong LM, Elks CE, Strachan DP, Kutalik Z, Vollenweider P, Feenstra B, Boyd HA, Metspalu A, Mihailov E, Broer L, Zillikens MC, Oostra B, van Duijn CM, Lunetta KL, Perry JR, Murray A, Koller DL, Lai D, Corre T, Toniolo D, Albrecht E, Stöckl D, Grallert H, Gieger C, Hayward C, Polasek O, Rudan I, Wilson JF, He C, Kraft P, Hu FB, Hunter DJ, Hottenga JJ, Willemsen G, Boomsma DI, Byrne EM, Martin NG, Montgomery GW, Warrington NM, Pennell CE, Stolk L, Visser JA, Hofman A, Uitterlinden AG, Rivadeneira F, Lin P, Fisher SL, Bierut LJ, Crisponi L, Porcu E, Mangino M, Zhai G, Spector TD, Buring JE, Rose LM, Ridker PM, Poole C, Hirschhorn JN, Murabito JM, Chasman DI, Widen E, North KE, Ong KK, Franceschini N.
Am J Epidemiol
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Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.
Authors: Authors: Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstråle M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA.
Science
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