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
Contributions of common genetic variants to constitutional delay of puberty and idiopathic hypogonadotropic hypogonadism.
Authors: Authors: Lippincott MF, Schafer EC, Hindman AA, He W, Brauner R, Delaney A, Grinspon R, Hall JE, Hirschhorn JN, McElreavey K, Palmert MR, Rey R, Seminara SB, Salem RM, Chan YM.
J Clin Endocrinol Metab
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Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.
Authors: Authors: Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Arias J, Belbin G, Below JE, Berndt SI, Chung WK, Cimino JJ, Clayton EW, Connolly JJ, Crosslin DR, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth RR, Ge T, Glessner JT, Gordon AS, Patterson C, Hakonarson H, Harden M, Harr M, Hirschhorn JN, Hoggart C, Hsu L, Irvin MR, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos RJF, Luo Y, Malolepsza E, Manolio TA, Martin LJ, McCarthy L, McNally EM, Meigs JB, Mersha TB, Mosley JD, Musick A, Namjou B, Pai N, Pesce LL, Peters U, Peterson JF, Prows CA, Puckelwartz MJ, Rehm HL, Roden DM, Rosenthal EA, Rowley R, Sawicki KT, Schaid DJ, Smit RAJ, Smith JL, Smoller JW, Thomas M, Tiwari H, Toledo DM, Vaitinadin NS, Veenstra D, Walunas TL, Wang Z, Wei WQ, Weng C, Wiesner GL, Yin X, Kenny EE.
Nat Med
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Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome.
Authors: Authors: Zhu J, Eliasen AU, Aris IM, Stinson SE, Holm JC, Hansen T, Hivert MF, Bønnelykke K, Salem RM, Hirschhorn JN, Chan YM.
J Clin Endocrinol Metab
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Inferring compound heterozygosity from large-scale exome sequencing data.
Authors: Authors: Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S, Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE.
Nat Genet
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Phenotyping children and adolescents with obesity using behavioral, psychological, and familial data.
Authors: Authors: St Fleur RG, Tanofsky-Kraff M, Yanovski JA, Horton NJ, Hirschhorn JN, Field AE.
Obesity (Silver Spring)
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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Authors: Authors: Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S.
J Clin Endocrinol Metab
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Identification and analysis of individuals who deviate from their genetically-predicted phenotype.
Authors: Authors: Hawkes G, Yengo L, Vedantam S, Marouli E, Beaumont RN, Tyrrell J, Weedon MN, Hirschhorn J, Frayling TM, Wood AR.
PLoS Genet
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Inferring compound heterozygosity from large-scale exome sequencing data.
Authors: Authors: Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S, Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE.
bioRxiv
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Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases.
Authors: Authors: Weeks EM, Ulirsch JC, Cheng NY, Trippe BL, Fine RS, Miao J, Patwardhan TA, Kanai M, Nasser J, Fulco CP, Tashman KC, Aguet F, Li T, Ordovas-Montanes J, Smillie CS, Biton M, Shalek AK, Ananthakrishnan AN, Xavier RJ, Regev A, Gupta RM, Lage K, Ardlie KG, Hirschhorn JN, Lander ES, Engreitz JM, Finucane HK.
Nat Genet
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Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.
Authors: Authors: Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn N, Arias J, Belbin G, Below JE, Berndt S, Chung W, Cimino JJ, Clayton EW, Connolly JJ, Crosslin D, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth R, Ge T, Glessner JT, Gordon A, Guiducci C, Hakonarson H, Harden M, Harr M, Hirschhorn J, Hoggart C, Hsu L, Irvin R, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos R, Luo Y, Malolepsza E, Manolio T, Martin LJ, McCarthy L, Meigs JB, Mersha TB, Mosley J, Namjou B, Pai N, Pesce LL, Peters U, Peterson J, Prows CA, Puckelwartz MJ, Rehm H, Roden D, Rosenthal EA, Rowley R, Sawicki KT, Schaid D, Schmidlen T, Smit R, Smith J, Smoller JW, Thomas M, Tiwari H, Toledo D, Vaitinadin NS, Veenstra D, Walunas T, Wang Z, Wei WQ, Weng C, Wiesner G, Xianyong Y, Kenny E.
medRxiv
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