Dr. Joel N Hirschhorn, MD

• Pediatric Endocrinology

*Healthgrades does not verify qualifications for medical specialties. Please verify your provider's specialty and qualifications directly with your provider and applicable medical board.

• Children's Hospital Boston

  Fellowship Hospital

• Children's Hospital Boston

  Residency Hospital

• Harvard University / School Of Psychology

  Medical School, 1995

• Post-translational control of beige fat biogenesis by PRDM16 stabilization, 2022-08-17

• Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations, 2020-03-19

• Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population, 2014-07-31

• Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome, 2020-05-28

• A saturated map of common genetic variants associated with human height, 2022-10-12

• Rhinovirus and serum IgE are associated with acute asthma exacerbation severity in children, 2016-06-15

• Growth hormone stimulation testing patterns contribute to sex differences in pediatric growth hormone treatment, 2021-10-18

• Structural forms of the human amylase locus and their relationships to SNPs, haplotypes, and obesity, 2015-06-22

• Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease, 2022-12-22

• Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults, 2017-04-27

• Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium, 2017-04-21

• Testing the role of predicted gene knockouts in human anthropometric trait variation, 2016-02-21

• Identification of ten loci associated with height highlights new biological pathways in human growth, 2008-04-06

• Genetic Variants of TSLP and Asthma in an Admixed Urban Population, 2011-09-22

• Genetic Determinants of Pubertal Timing in the General Population, 2010-02-06

• Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry, 2018-09-14

• Hundreds of variants clustered in genomic loci and biological pathways affect human height, 2010-09-29

• The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits, 2012-08-02

• Whole exome sequencing to identify genetic causes of short stature, 2014-06-20

• Novel Approach Identifies SNPs inSLC2A10andKCNK9with Evidence for Parent-of-Origin Effect on Body Mass Index, 2014-07-31

• Inferring compound heterozygosity from large-scale exome sequencing data, 2023-08-21

• Whole exome sequencing reveals a novel mutation inCUL7in a patient with an undiagnosed growth disorder, 2012-09-10

• Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis, 2022-12-27

• Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture, 2013-04-07

• Common variants associated with plasma triglycerides and risk for coronary artery disease, 2013-10-06

• Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity, 2017-12-22

• Association of Common Variants inNPPAandNPPBwith Circulating Natriuretic Peptides and Blood Pressure, 2009-02-15

• Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation, 2010-11-07

• PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION, 2019-02-18

• Multiancestry association study identifies new asthma risk loci that colocalize with immune cell enhancer marks, 2017-12-22

• Enhanced Statistical Tests for GWAS in Admixed Populations: Assessment using African Americans from CARe and a Breast Cancer Consortium, 2011-04-21

• Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain, 2019-09-27

• Directional dominance on stature and cognition in diverse human populations, 2015-07-01

• Variants inADCY5and nearCCNL1are associated with fetal growth and birth weight, 2010-04-06

• Genetic evidence that carbohydrate-stimulated insulin secretion leads to obesity, 2018-04-28

• The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA, 2011-03-22

• Population genetic differentiation of height and body mass index across Europe, 2015-09-14

• Common variants nearMC4Rare associated with fat mass, weight and risk of obesity, 2008-05-04

• Assessing the phenotypic effects in the general population of rare variants in genes for a dominant mendelian form of diabetes, 2013-10-06

• Across-cohort QC analyses of GWAS summary statistics from complex traits, 2016-08-24

• Racial/Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency, 2021-04-23

• Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height, 2021-08-03

• Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals, 2011-12-29

• Redefining the Progeroid Form of Ehlers-Danlos Syndrome: Report of the Fourth Patient withB4GALT7Deficiency and Review of the Literature, 2013-08-16

• A positively selectedFBN1missense variant reduces height in Peruvians, 2020-05-13

• Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry, 2011-10-06

• Rare and low-frequency coding variants alter human adult height, 2017-02-01

• The power of genetic diversity in genome-wide association studies of lipids, 2021-12-09

• A novel common variant inDCST2is associated with length in early life and height in adulthood, 2014-10-03

• Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies, 2008-10-31

• Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome, 2021-11-19

• Biological interpretation of genome-wide association studies using predicted gene functions, 2015-01-19

• A genome-wide association meta-analysis identifies new childhood obesity loci, 2012-03-20

• Exome-wide association study of plasma lipids in >300,000 individuals, 2017-10-30

• The Power of Meta-Analysis in Genome Wide Association Studies, 2013-05-24

• Increased Burden of Cardiovascular Disease in Carriers ofAPOL1Genetic Variants, 2013-12-30

• The landscape of recombination in African Americans, 2011-07-20

• 52 Genetic Loci Influencing Myocardial Mass, 2016-09-27

• A CLK3-HMGA2 alternative splicing axis impacts human hematopoietic stem cell molecular identity throughout development, 2018-04-05

• Potential causal role of L-glutamine in sickle cell disease painful crises: a Mendelian randomization analysis, 2020-09-10

• Two unrelated undervirilized 46,XY males with inheritedNR5A1variants identified by whole exome sequencing, 2016-08-24

• The History of African Gene Flow into Southern Europeans, Levantines, and Jews, 2011-04-21

• New Susceptibility Loci Associated with Kidney Disease in Type 1 Diabetes, 2012-09-20

• Use of weighted reference panels based on empirical estimates of ancestry for capturing untyped variation, 2009-01-28

• Defining the role of common variation in the genomic and biological architecture of adult human height, 2014-10-05

• Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels, 2019-12-20

• Six new loci associated with body mass index highlight a neuronal influence on body weight regulation, 2008-12-14

• Replication and fine mapping of asthma-associated loci in individuals of African ancestry, 2013-05-12

• Genetic studies of body mass index yield new insights for obesity biology, 2015-02-12

• Evidence of widespread selection on standing variation in Europe at height-associated SNPs, 2012-08-19

• Association Between Variants in or NearPNPLA3, GCKR, andPPP1R3BWith Ultrasound-Defined Steatosis Based on Data From the Third National Health and Nutrition Examination Survey, 2013-02-13

• A 46,XX ovotesticular disorder of sex development likely caused by a SF-1 (NR5A1) variant, 2016-11-18

• The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect, 2021-03-04

• Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA, 2012-09-28

• Impact of an electronic template on documentation of obesity in a primary care clinic, 2015-12-15

• The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals, 2016-09-12

• Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness”, 2020-11-11

• FTOgenotype is associated with phenotypic variability of body mass index, 2012-09-16

• Genetic variation nearIRS1associates with reduced adiposity and an impaired metabolic profile, 2011-06-26

• Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease, 2022-06-28

• Absence of FunctionalLIN28BMutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty, 2012-09-06

• Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype, 2012-12-20

• Meta-analysis of genome-wide association studies identifies 10 loci influencing allergic sensitization, 2013-06-30

• Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature, 2015-03-16

• Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder, 2022-06-10

• Author Correction: The power of genetic diversity in genome-wide association studies of lipids, 2023-07-07

• The Association of a SNP Upstream ofINSIG2with Body Mass Index is Reproduced in Several but Not All Cohorts, 2007-04-27

• Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits, 2013-06-06

• Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects, 2016-11-21

• Meta-Analysis of theINSIG2Association with Obesity Including 74,345 Individuals: Does Heterogeneity of Estimates Relate to Study Design?, 2009-10-23

• Rapid Assessment of Genetic Ancestry in Populations of Unknown Origin by Genome-Wide Genotyping of Pooled Samples, 2010-03-05

• Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease, 2019-03-27

• Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution, 2010-10-10

• New genetic loci link adipose and insulin biology to body fat distribution, 2015-02-12

• A common variant ofHMGA2is associated with adult and childhood height in the general population, 2007-09-02

• CYP19A1genetic variation in relation to prostate cancer risk and circulating sex hormone concentrations in men from the Breast and Prostate Cancer Cohort Consortium, 2009-09-29

• A Meta-Analysis Identifies New Loci Associated with Body Mass index in Individuals of African Ancestry, 2013-04-14

• Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits, 2012-03-18

• Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution, 2009-06-26

• Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity, 2013-07-19

• PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data, 2019-01-14

• Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index, 2010-10-10

• New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism, 2012-12-02

• The Genomics Research and Innovation Network Creating an Interoperable, Federated, Genomics Learning System, 2019-09-04

• Genome-wide association study identifies 48 common genetic variants associated with handedness, 2020-09-28

• A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape, 2016-11-23

• Fatty Liver is Associated With Dyslipidemia and Dysglycemia Independent of Visceral Fat: The Framingham Heart Study, 2010-12-02

• Lin28atransgenic mice manifest size and puberty phenotypes identified in human genetic association studies, 2010-05-30

• A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness, 2020-07-11

• PNPLA3Variants Specifically Confer Increased Risk for Histologic Nonalcoholic Fatty Liver Disease But Not Metabolic Disease, 2011-02-22

• Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function, 2016-01-21

• Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits, 2017-04-26

• Interrogation of human hematopoiesis at single-cell and single-variant resolution, 2019-03-11

• The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study, 2015-10-01

• A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the Multiethnic Cohort, 2007-12-01

• Discerning the Ancestry of European Americans in Genetic Association Studies, 2008-01-18

• New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk, 2016-02-01

• Biological Insights From 108 Schizophrenia-Associated Genetic Loci, 2014-07-22

• Discovery and Refinement of Loci Associated with Lipid Levels, 2013-10-06

• Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses, 2006-05-22

• Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells, 2015-10-22