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
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
Authors: Authors: Cabrera-Salcedo C, Hawkes CP, Tyzinski L, Andrew M, Labilloy G, Campos D, Feld A, Deodati A, Hwa V, Hirschhorn JN, Grimberg A, Dauber A.
Horm Res Paediatr
View full abstract on Pubmed
PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data.
Authors: Authors: Hsu YH, Churchhouse C, Pers TH, Mercader JM, Metspalu A, Fischer K, Fortney K, Morgen EK, Gonzalez C, Gonzalez ME, Esko T, Hirschhorn JN.
PLoS Comput Biol
View full abstract on Pubmed
Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain.
Authors: Authors: Geidenstam N, Hsu YH, Astley CM, Mercader JM, Ridderstråle M, Gonzalez ME, Gonzalez C, Hirschhorn JN, Salem RM.
PLoS One
View full abstract on Pubmed
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
Authors: Authors: Pulit SL, Stoneman C, Morris AP, Wood AR, Glastonbury CA, Tyrrell J, Yengo L, Ferreira T, Marouli E, Ji Y, Yang J, Jones S, Beaumont R, Croteau-Chonka DC, Winkler TW, Consortium G, Hattersley AT, Loos RJF, Hirschhorn JN, Visscher PM, Frayling TM, Yaghootkar H, Lindgren CM.
Hum Mol Genet
View full abstract on Pubmed
Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease.
Authors: Authors: Marouli E, Del Greco MF, Astley CM, Yang J, Ahmad S, Berndt SI, Caulfield MJ, Evangelou E, McKnight B, Medina-Gomez C, van Vliet-Ostaptchouk JV, Warren HR, Zhu Z, Hirschhorn JN, Loos RJF, Kutalik Z, Deloukas P.
Commun Biol
View full abstract on Pubmed
Measuring coverage and accuracy of whole-exome sequencing in clinical context.
Authors: Authors: Kong SW, Lee IH, Liu X, Hirschhorn JN, Mandl KD.
Genet Med
View full abstract on Pubmed
Disruption of the Igf2 gene alters hepatic lipid homeostasis and gene expression in the newborn mouse.
Authors: Authors: Lopez MF, Zheng L, Miao J, Gali R, Gorski G, Hirschhorn JN.
Am J Physiol Endocrinol Metab
View full abstract on Pubmed
Meta-analysis of genome-wide association studies for height and body mass index in ~700000 individuals of European ancestry.
Authors: Authors: Yengo L, Sidorenko J, Kemper KE, Zheng Z, Wood AR, Weedon MN, Frayling TM, Hirschhorn J, Yang J, Visscher PM.
Hum Mol Genet
View full abstract on Pubmed
Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data.
Authors: Authors: Guo MH, Plummer L, Chan YM, Hirschhorn JN, Lippincott MF.
Am J Hum Genet
View full abstract on Pubmed
Insights and Implications of Genome-Wide Association Studies of Height.
Authors: Authors: Guo MH, Hirschhorn JN, Dauber A.
J Clin Endocrinol Metab
View full abstract on Pubmed