World's Best Scientists 2026 revealed!
Mark I. McCarthy

Mark I. McCarthy

Award Badge
Best Scientists
2025
Award Badge
Genetics
USA
2026

D-Index & Metrics

Best Scientists

D-Index
231
Citations
261402
World Ranking
90
National Ranking
10

Genetics

D-Index
224
Citations
251918
World Ranking
13
National Ranking
8

Medicine

D-Index
232
Citations
260230
World Ranking
58
National Ranking
45

Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader Award
  • 2026 - Research.com Medicine in United States Leader Award
  • 2025 - Research.com Best Scientists Award
  • 2025 - Research.com Genetics in United Kingdom Leader Award
  • 2025 - Research.com Medicine in United Kingdom Leader Award
  • 2024 - Research.com Genetics in United Kingdom Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in United Kingdom Leader Award
  • 2023 - Research.com Genetics in United Kingdom Leader Award
  • 2023 - Research.com Medicine in United Kingdom Leader Award
  • 2022 - Research.com Genetics and Molecular Biology in United Kingdom Leader Award
  • 2006 - Fellow of the Academy of Medical Science, United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Fellow of the Royal Society of Biology (FRSB), United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Fellow of the Royal Society of Biology (FRSB), United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Fellow of the Royal Society of Biology (FRSB), United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Fellow of the Royal Society of Biology (FRSB), United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Fellow of the Royal Society of Biology (FRSB), United Kingdom

Overview

Mark I. McCarthy is affiliated with the University of Oxford in the United Kingdom. Their research spans multiple fields with a primary focus on Biochemistry, Genetics and Molecular Biology, alongside Medicine. Within these areas, McCarthy's work emphasizes Genetics, Molecular Biology, Epidemiology, Endocrinology, Diabetes and Metabolism, as well as Surgery.

The scientist's notable recent papers include:

  • Plasma proteomic associations with genetics and health in the UK Biobank, 2023, Nature
  • Using human genetics to understand the disease impacts of testosterone in men and women, 2020, Nature Medicine
  • A brief history of human disease genetics, 2020, Nature
  • Improving reporting standards for polygenic scores in risk prediction studies, 2021, Nature
  • Genetics meets proteomics: perspectives for large population-based studies, 2020, Nature Reviews Genetics

McCarthy collaborates regularly with several researchers, including:

  • Anubha Mahajan (68 joint works)
  • Paul W. Franks (28 joint works)
  • Torben Hansen (25 joint works)
  • Ewan R. Pearson (23 joint works)
  • Michael Boehnke (22 joint works)

The following publication venues frequently feature McCarthy's research:

  • bioRxiv (Cold Spring Harbor Laboratory) with 32 publications
  • UNC Libraries with 17 publications
  • Nature Communications with 9 publications
  • Diabetes with 9 publications
  • Nature with 7 publications

Key topics represented in McCarthy's work include:

  • Genetic Associations and Epidemiology
  • Pancreatic function and diabetes
  • Liver Disease Diagnosis and Treatment
  • Bioinformatics and Genomic Networks
  • Epigenetics and DNA Methylation
  • Diabetes and associated disorders
  • Genomics and Rare Diseases

Recognized by professional societies, McCarthy has been awarded fellowships such as:

  • Fellow of the Academy of Medical Science, United Kingdom (2006)
  • Fellow of the Royal Society of Biology (FRSB), United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom

Best Publications

  • Analysis of protein-coding genetic variation in 60,706 humans

    Monkol Lek;Konrad J. Karczewski;Konrad J. Karczewski;Eric V. Minikel;Eric V. Minikel;Kaitlin E. Samocha

  • Finding the missing heritability of complex diseases

    Teri A. Manolio;Francis S. Collins;Nancy J. Cox;David B. Goldstein

  • The Genotype-Tissue Expression (GTEx) project

    John Lonsdale;Jeffrey Thomas;Mike Salvatore;Rebecca Phillips

  • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

    Paul R. Burton;David G. Clayton;Lon R. Cardon;Nick Craddock

  • A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

    Timothy M. Frayling;Nicholas J. Timpson;Michael N. Weedon;Eleftheria Zeggini;Eleftheria Zeggini;Eleftheria Zeggini

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

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

  • Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

    Siddhartha Jaiswal;Pierre Fontanillas;Jason Flannick;Jason Flannick;Alisa Manning

  • Biological, clinical and population relevance of 95 loci for blood lipids

    Tanya M. Teslovich;Kiran Musunuru;Albert V. Smith;Andrew C. Edmondson

  • 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

  • 10 Years of GWAS Discovery: Biology, Function, and Translation

    Peter M. Visscher;Naomi R. Wray;Qian Zhang;Pamela Sklar

  • A reference panel of 64,976 haplotypes for genotype imputation

    Shane McCarthy;Sayantan Das;Warren Kretzschmar;Olivier Delaneau

  • 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

  • Five years of GWAS discovery

    Peter M. Visscher;Peter M. Visscher;Matthew A. Brown;Mark I. McCarthy;Mark I. McCarthy;Jian Yang

  • Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes

    Eleftheria Zeggini;Michael N. Weedon;Cecilia M. Lindgren;Timothy M. Frayling

  • New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

    Josée Dupuis;Josée Dupuis;Claudia Langenberg;Inga Prokopenko;Richa Saxena;Richa Saxena

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

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

  • Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

    E Zeggini;L J Scott;R Saxena;B F Voight

  • New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (vol 42, pg 105, 2010)

    J Dupuis;C Langenberg;I Prokopenko;R Saxena

  • The Genotype-Tissue Expression (GTEx) project

    John Lonsdale;Jeffrey Thomas;Mike Salvatore;Rebecca Phillips

Frequent Co-Authors

Marjo-Riitta Järvelin
Marjo-Riitta Järvelin Imperial College London
Cecilia M. Lindgren
Cecilia M. Lindgren University of Oxford
Andrew T. Hattersley
Andrew T. Hattersley University of Exeter
Andrew P. Morris
Andrew P. Morris University of Liverpool
Timothy M. Frayling
Timothy M. Frayling University of Geneva
Leif Groop
Leif Groop Lund University
Inga Prokopenko
Inga Prokopenko University of Surrey
Philippe Froguel
Philippe Froguel Imperial College London
Tim D. Spector
Tim D. Spector King's College London
Nicholas J. Wareham
Nicholas J. Wareham University of Cambridge

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