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Genetics
USA
2026
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Genetics and Molecular Biology
USA
2024

D-Index & Metrics

Genetics

D-Index
159
Citations
150889
World Ranking
98
National Ranking
48

Medicine

D-Index
159
Citations
151420
World Ranking
796
National Ranking
449

Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader Award
  • 2025 - Research.com Genetics in United States Leader Award
  • 2024 - Research.com Genetics in United States Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in United States Leader Award
  • 2023 - Research.com Genetics in United States Leader Award
  • 2020 - Member of the National Academy of Medicine (NAM)
  • 2011 - E. Mead Johnson Award, Society for Pediatric Research

Overview

Joel N. Hirschhorn is affiliated with Boston Children's Hospital in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, with significant contributions also in Medicine.

The scientist's work encompasses several subfields including Genetics, Molecular Biology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, and Public Health, Environmental and Occupational Health.

Joel N. Hirschhorn has contributed to multiple research topics, notably:

  • Genetic Associations and Epidemiology
  • Growth Hormone and Insulin-like Growth Factors
  • Epigenetics and DNA Methylation
  • RNA modifications and cancer
  • Genetic Syndromes and Imprinting
  • Birth, Development, and Health
  • Genomics and Rare Diseases

Their recent influential papers include:

  • Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data, 2022, Nature Genetics
  • Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases, 2023, Nature Genetics
  • Hepatic NADH reductive stress underlies common variation in metabolic traits, 2020, Nature
  • Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations, 2020, Nature Communications
  • Genome-wide association study identifies 48 common genetic variants associated with handedness, 2020, Nature Human Behaviour

Frequent collaborators in their research include Sailaja Vedantam, José C. Florez, Rany M. Salem, Joanne B. Cole, and Ruth J. F. Loos.

Publication venues where Joel N. Hirschhorn's work appears repeatedly are:

  • UNC Libraries
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Journal of the Endocrine Society
  • The Journal of Clinical Endocrinology & Metabolism
  • Nature

Awards received by the scientist include the E. Mead Johnson Award from the Society for Pediatric Research in 2011 and membership in the National Academy of Medicine (NAM) in 2020.

Best Publications

  • PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

    Vamsi K Mootha;Cecilia M Lindgren;Cecilia M Lindgren;Karl-Fredrik Eriksson;Aravind Subramanian

  • Biological insights from 108 schizophrenia-associated genetic loci

    Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Aiden Corvin;James T. R. Walters

  • The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

    Kristin G. Ardlie;David S. Deluca;Ayellet V. Segrè

  • Genome-wide association studies for common diseases and complex traits

    Joel N. Hirschhorn;Joel N. Hirschhorn;Joel N. Hirschhorn;Mark J. Daly;Mark J. Daly

  • Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

    Elizabeth K. Speliotes;Elizabeth K. Speliotes;Cristen J. Willer;Sonja I. Berndt;Keri L. Monda

  • Genome-wide association studies for complex traits: consensus, uncertainty and challenges

    Mark I. McCarthy;Mark I. McCarthy;Gonçalo R. Abecasis;Lon R. Cardon;Lon R. Cardon;David B. Goldstein

  • Discovery and refinement of loci associated with lipid levels

    Cristen J. Willer;Ellen M. Schmidt;Sebanti Sengupta;Gina M. Peloso;Gina M. Peloso;Gina M. Peloso

  • Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels

    Richa Saxena;Benjamin F. Voight;Valeriya Lyssenko;Noël P. Burtt

  • Hundreds of variants clustered in genomic loci and biological pathways affect human height

    Hana Lango Allen;Karol Estrada;Guillaume Lettre;Sonja I. Berndt

  • The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.

    David Altshuler;Joel N. Hirschhorn;Joel N. Hirschhorn;Joel N. Hirschhorn;Mia Klannemark;Cecilia M. Lindgren;Cecilia M. Lindgren

  • Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease.

    Kirk E. Lohmueller;Celeste L. Pearce;Malcolm Pike;Eric S. Lander

  • Defining the role of common variation in the genomic and biological architecture of adult human height

    Andrew R. Wood;Tonu Esko;Jian Yang;Sailaja Vedantam

  • A comprehensive review of genetic association studies.

    Joel N Hirschhorn;Kirk Lohmueller;Edward Byrne;Kurt Hirschhorn

  • Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

    Cristen J. Willer;Elizabeth K. Speliotes;Elizabeth K. Speliotes;Ruth J. F. Loos;Shengxu Li

  • Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

    Loic Yengo;Julia Sidorenko;Julia Sidorenko;Kathryn E Kemper;Zhili Zheng

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

    Jian Yang;Teresa Ferreira;Andrew P Morris;Sarah E Medland

  • Genetic studies of body mass index yield new insights for obesity biology

    Adam E. Locke;Bratati Kahali;Sonja I. Berndt;Anne E. Justice

  • Replicating genotype–phenotype associations

    Stephen J. Chanock;Teri Manolio;Michael Boehnke;Eric Boerwinkle

  • Guidelines for investigating causality of sequence variants in human disease

    D G MacArthur;T A Manolio;D P Dimmock;H L Rehm

  • Hundreds of variants clustered in genomic loci and biological pathways affect human height

    H. Lango Allen;K. Estrada;G. Lettre;S. I. Berndt

Frequent Co-Authors

Tonu Esko
Tonu Esko University of Tartu
Leif Groop
Leif Groop Lund University
Cecilia M. Lindgren
Cecilia M. Lindgren University of Oxford
Ruth J. F. Loos
Ruth J. F. Loos University of Copenhagen
Olli T. Raitakari
Olli T. Raitakari Turku University Hospital
Sekar Kathiresan
Sekar Kathiresan Harvard University
David Altshuler
David Altshuler Harvard University
Marjo-Riitta Järvelin
Marjo-Riitta Järvelin Imperial College London
Kari Stefansson
Kari Stefansson deCODE Genetics (Iceland)

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