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

Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms.

Authors: Authors: Chiang CW, Liu CT, Lettre G, Lange LA, Jorgensen NW, Keating BJ, Vedantam S, Nock NL, Franceschini N, Reiner AP, Demerath EW, Boerwinkle E, Rotter JI, Wilson JG, North KE, Papanicolaou GJ, Cupples LA, Murabito JM, Hirschhorn JN.
Genetics 2012-09-01
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New susceptibility loci associated with kidney disease in type 1 diabetes.

Authors: Authors: Sandholm N, Salem RM, McKnight AJ, Brennan EP, Forsblom C, Isakova T, McKay GJ, Williams WW, Sadlier DM, Mäkinen VP, Swan EJ, Palmer C, Boright AP, Ahlqvist E, Deshmukh HA, Keller BJ, Huang H, Ahola AJ, Fagerholm E, Gordin D, Harjutsalo V, He B, Heikkilä O, Hietala K, Kytö J, Lahermo P, Lehto M, Lithovius R, Osterholm AM, Parkkonen M, Pitkäniemi J, Rosengård-Bärlund M, Saraheimo M, Sarti C, Söderlund J, Soro-Paavonen A, Syreeni A, Thorn LM, Tikkanen H, Tolonen N, Tryggvason K, Tuomilehto J, Wadén J, Gill GV, Prior S, Guiducci C, Mirel DB, Taylor A, Hosseini SM, Parving HH, Rossing P, Tarnow L, Ladenvall C, Alhenc-Gelas F, Lefebvre P, Rigalleau V, Roussel R, Tregouet DA, Maestroni A, Maestroni S, Falhammar H, Gu T, Möllsten A, Cimponeriu D, Ioana M, Mota M, Mota E, Serafinceanu C, Stavarachi M, Hanson RL, Nelson RG, Kretzler M, Colhoun HM, Panduru NM, Gu HF, Brismar K, Zerbini G, Hadjadj S, Marre M, Groop L, Lajer M, Bull SB, Waggott D, Paterson AD, Savage DA, Bain SC, Martin F, Hirschhorn JN, Godson C, Florez JC, Groop PH, Maxwell AP.
PLoS Genet 2012-09-01
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Evidence of widespread selection on standing variation in Europe at height-associated SNPs.

Authors: Authors: Turchin MC, Chiang CW, Palmer CD, Sankararaman S, Reich D, Hirschhorn JN.
Nat Genet 2012-09-01
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Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy.

Authors: Authors: Williams WW, Salem RM, McKnight AJ, Sandholm N, Forsblom C, Taylor A, Guiducci C, McAteer JB, McKay GJ, Isakova T, Brennan EP, Sadlier DM, Palmer C, Söderlund J, Fagerholm E, Harjutsalo V, Lithovius R, Gordin D, Hietala K, Kytö J, Parkkonen M, Rosengård-Bärlund M, Thorn L, Syreeni A, Tolonen N, Saraheimo M, Wadén J, Pitkäniemi J, Sarti C, Tuomilehto J, Tryggvason K, Österholm AM, He B, Bain S, Martin F, Godson C, Hirschhorn JN, Maxwell AP, Groop PH, Florez JC.
Diabetes 2012-08-01
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A genome-wide association meta-analysis identifies new childhood obesity loci.

Authors: Authors: Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, Salem RM, Schumacher FR, Cousminer DL, Sleiman PM, Zhao J, Berkowitz RI, Vimaleswaran KS, Jarick I, Pennell CE, Evans DM, St Pourcain B, Berry DJ, Mook-Kanamori DO, Hofman A, Rivadeneira F, Uitterlinden AG, van Duijn CM, van der Valk RJ, de Jongste JC, Postma DS, Boomsma DI, Gauderman WJ, Hassanein MT, Lindgren CM, Mägi R, Boreham CA, Neville CE, Moreno LA, Elliott P, Pouta A, Hartikainen AL, Li M, Raitakari O, Lehtimäki T, Eriksson JG, Palotie A, Dallongeville J, Das S, Deloukas P, McMahon G, Ring SM, Kemp JP, Buxton JL, Blakemore AI, Bustamante M, Guxens M, Hirschhorn JN, Gillman MW, Kreiner-Møller E, Bisgaard H, Gilliland FD, Heinrich J, Wheeler E, Barroso I, O'Rahilly S, Meirhaeghe A, Sørensen TI, Power C, Palmer LJ, Hinney A, Widen E, Farooqi IS, McCarthy MI, Froguel P, Meyre D, Hebebrand J, Jarvelin MR, Jaddoe VW, Smith GD, Hakonarson H, Grant SF.
Nat Genet 2012-05-01
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17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

Authors: Authors: Vergult S, Dauber A, Delle Chiaie B, Van Oudenhove E, Simon M, Rihani A, Loeys B, Hirschhorn J, Pfotenhauer J, Phillips JA, Mohammed S, Ogilvie C, Crolla J, Mortier G, Menten B.
Eur J Hum Genet 2012-05-01
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Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits.

Authors: Authors: Yang J, Ferreira T, Morris AP, Medland SE, Madden PA, Heath AC, Martin NG, Montgomery GW, Weedon MN, Loos RJ, Frayling TM, McCarthy MI, Hirschhorn JN, Goddard ME, Visscher PM.
Nat Genet 2012-03-18
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Gencrypt: one-way cryptographic hashes to detect overlapping individuals across samples.

Authors: Authors: Turchin MC, Hirschhorn JN.
Bioinformatics 2012-03-15
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Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.

Authors: Authors: Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN.
J Clin Endocrinol Metab 2012-02-01
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Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty.

Authors: Authors: Silveira-Neto AP, Leal LF, Emerman AB, Henderson KD, Piskounova E, Henderson BE, Gregory RI, Silveira LF, Hirschhorn JN, Nguyen TT, Beneduzzi D, Tusset C, Reis AC, Brito VN, Mendonca BB, Palmert MR, Antonini SR, Latronico AC.
Horm Res Paediatr 2012-01-01
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