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
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Authors: Authors: Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hämäläinen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A.
PLoS Genet
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Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
Authors: Authors: Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC.
J Clin Endocrinol Metab
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Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
Authors: Authors: Dauber A, Ercan A, Lee J, James P, Jacobs PP, Ashline DJ, Wang SR, Miller T, Hirschhorn JN, Nigrovic PA, Sackstein R.
Hum Mol Genet
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Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.
Authors: Authors: Wang SR, Agarwala V, Flannick J, Chiang CW, Altshuler D, Hirschhorn JN.
Am J Hum Genet
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Guidelines for investigating causality of sequence variants in human disease.
Authors: Authors: MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C.
Nature
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An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
Authors: Authors: Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S, Daly MJ, Neale BM, Salem RM, Hirschhorn JN.
Am J Hum Genet
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Increased burden of cardiovascular disease in carriers of APOL1 genetic variants.
Authors: Authors: Ito K, Bick AG, Flannick J, Friedman DJ, Genovese G, Parfenov MG, Depalma SR, Gupta N, Gabriel SB, Taylor HA, Fox ER, Newton-Cheh C, Kathiresan S, Hirschhorn JN, Altshuler DM, Pollak MR, Wilson JG, Seidman JG, Seidman C.
Circ Res
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A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.
Authors: Authors: Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, Dauber A.
J Clin Endocrinol Metab
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A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
Authors: Authors: Swartz JM, Akinci A, Andrew SF, Sigirci A, Hirschhorn JN, Rosenfeld RG, Dauber A, Hwa V.
Horm Res Paediatr
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Whole exome sequencing to identify genetic causes of short stature.
Authors: Authors: Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A.
Horm Res Paediatr
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