Joel Naom Hirschhorn

Joel Naom Hirschhorn, Ph.D., M.D.

Concordia Professor of Pediatrics

617-919-2129

Publications

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 2024-05-09
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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 2024-03-21
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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 2024-03-13
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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 2024-02-01
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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 2024-01-18
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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 2024-01-01
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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) 2023-12-01
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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 2023-11-17
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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 2023-09-01
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Inferring compound heterozygosity from large-scale exome sequencing data.