D-Index & Metrics Best Publications
Research.com 2022 Best Scientist Award Badge

D-Index & Metrics

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics and Molecular Biology D-index 167 Citations 164,362 406 World Ranking 30 National Ranking 20
Best Scientists D-index 207 Citations 198,861 456 World Ranking 141 National Ranking 99

Research.com Recognitions

Awards & Achievements

2022 - Research.com Best Scientist Award

2020 - Member of the National Academy of Medicine (NAM)

2011 - E. Mead Johnson Award, Society for Pediatric Research

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Genetics
  • Internal medicine

Joel N. Hirschhorn spends much of his time researching Genetics, Genome-wide association study, Genetic association, Single-nucleotide polymorphism and Allele. The study incorporates disciplines such as Body mass index and Disease in addition to Genetics. His study in Genome-wide association study is interdisciplinary in nature, drawing from both Case-control study, Locus, Heritability, Computational biology and Candidate gene.

His Genetic association research integrates issues from Population stratification, Demography, FTO gene, Expression quantitative trait loci and SNP array. His biological study spans a wide range of topics, including Endocrinology, Genotyping and Allele frequency. He focuses mostly in the field of Allele, narrowing it down to topics relating to Genetic marker and, in certain cases, Copy-number variation.

His most cited work include:

  • PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes (5604 citations)
  • PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes (5604 citations)
  • PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes (5604 citations)

What are the main themes of his work throughout his whole career to date?

Joel N. Hirschhorn mainly investigates Genetics, Genome-wide association study, Internal medicine, Single-nucleotide polymorphism and Genetic association. His study in Genetic variation, Locus, Gene, Allele and Linkage disequilibrium falls under the purview of Genetics. His work focuses on many connections between Genome-wide association study and other disciplines, such as Body mass index, that overlap with his field of interest in Demography and Meta-analysis.

Joel N. Hirschhorn combines subjects such as Endocrinology and Type 2 diabetes with his study of Internal medicine. His Single-nucleotide polymorphism study incorporates themes from Allele frequency, Breast cancer and Haplotype. His work carried out in the field of Genetic association brings together such families of science as Genotyping, Medical genetics, Population genetics and Candidate gene.

He most often published in these fields:

  • Genetics (113.85%)
  • Genome-wide association study (84.87%)
  • Internal medicine (56.41%)

What were the highlights of his more recent work (between 2017-2021)?

  • Genome-wide association study (84.87%)
  • Internal medicine (56.41%)
  • Computational biology (17.05%)

In recent papers he was focusing on the following fields of study:

His primary areas of study are Genome-wide association study, Internal medicine, Computational biology, Genetic association and Mendelian randomization. Single-nucleotide polymorphism, Genetics and Gene are closely tied to his Genome-wide association study research. Joel N. Hirschhorn interconnects Quantitative trait locus and IGFBP3 in the investigation of issues within Single-nucleotide polymorphism.

Many of his research projects under Genetics are closely connected to Bipolar disorder with Bipolar disorder, tying the diverse disciplines of science together. His Internal medicine study combines topics in areas such as Endocrinology and Type 2 diabetes. His research integrates issues of Metabolite, Phenotype and Genetic variation in his study of Computational biology.

Between 2017 and 2021, his most popular works were:

  • Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry (539 citations)
  • Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes (328 citations)
  • Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks (203 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Internal medicine
  • Mutation

Genome-wide association study, Biobank, Genomics, Genetic association and Computational biology are his primary areas of study. His Genome-wide association study research is multidisciplinary, incorporating elements of Body mass index, Obesity, Diabetes mellitus and Bioinformatics. His studies in Biobank integrate themes in fields like Type 2 diabetes, Data science and Heritability.

His study on Genetic association is covered under Genetics. His Genetics study frequently involves adjacent topics like Glucose homeostasis. His Computational biology research is multidisciplinary, relying on both Exome sequencing, Phenotype, Genome and Gene.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

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.
Nature Genetics (2003)

6255 Citations

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

Kristin G. Ardlie;David S. Deluca;Ayellet V. Segrè.
Science (2015)

4252 Citations

Biological insights from 108 schizophrenia-associated genetic loci

Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Aiden Corvin;James T. R. Walters.
Nature (2014)

4139 Citations

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.
Nature Reviews Genetics (2008)

3119 Citations

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.
Nature Reviews Genetics (2005)

3095 Citations

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.
Nature Genetics (2010)

2864 Citations

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

Richa Saxena;Benjamin F. Voight;Valeriya Lyssenko;Noël P. Burtt.
Science (2007)

2744 Citations

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

Adam E. Locke;Bratati Kahali;Sonja I. Berndt;Anne E. Justice.
Nature (2015)

2711 Citations

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.
Nature Genetics (2000)

2222 Citations

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.
Nature Genetics (2003)

2173 Citations

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