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
Functional genomics of human skeletal development and the patterning of height heritability.
Authors: Authors: Richard D, Muthuirulan P, Young M, Yengo L, Vedantam S, Marouli E, Bartell E, Hirschhorn J, Capellini TD.
Cell
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A Novel Role for FERM Domain-Containing Protein 3 (FRMD3) in CKD.
Authors: Authors: Kennedy C, Doyle R, Gough O, Mcevoy C, Anallen SM, Hughes M, Sheng X, Crifo B, Andrews D, Gaffney A, Rodriguez J, Kennedy S, Dillon E, Crean D, Zhang W, Yi Z, Nair V, Susztak K, Hirschhorn J, Florez J, Groop PH, Sandholm N, Kretzler M, Mckay GJ, Mcknight AJ, Maxwell AP, Matallanas D, Dorman A, Martin F, Conlon PJ, Sadlier DM, Brennan E, Godson C.
Kidney360
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Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production.
Authors: Authors: Borges KS, Little DW, de Almeida Magalhães T, Ribeiro C, Dumontet T, Lapensee C, Basham KJ, Seth A, Azova S, Guagliardo NA, Barrett PQ, Berber M, O'Connell AE, Turcu AF, Lerario AM, Mohan DR, Rainey W, Carlone DL, Hirschhorn JN, Salic A, Breault DT, Hammer GD.
bioRxiv
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An integrative framework to prioritize genes in more than 500 loci associated with body mass index.
Authors: Authors: Hemerich D, Svenstrup V, Obrero VD, Preuss M, Moscati A, Hirschhorn JN, Loos RJF.
Am J Hum Genet
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Associations Between Phenotypes of Childhood and Adolescent Obesity and Incident Hypertension in Young Adulthood.
Authors: Authors: Fleur RS, Tanofsky-Kraff M, Yanovski J, Horton N, Reich L, Chavarro J, Hirschhorn J, Ziobrowski H, Field A.
Res Sq
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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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