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2025
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Genetics
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2026

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Best Scientists

D-Index
228
Citations
357378
World Ranking
102
National Ranking
72

Genetics

D-Index
226
Citations
354368
World Ranking
10
National Ranking
6

Medicine

D-Index
227
Citations
344948
World Ranking
68
National Ranking
52

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 States Leader Award
  • 2025 - Research.com Medicine 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
  • 2018 - Warren Alpert Foundation Prize For pioneering contributions to the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and to the subsequent research that led to the development of transformational precision medicines to treat the underlying cause of cystic fibrosis.
  • 2010 - Albany Medical Center Prize in Medicine and Biomedical Research
  • 2008 - US President's National Medal of Science "For his visionary contributions to the fields of genetics and genomics through the work of his own laboratory and his leadership of multiple international genomics initiatives, including the Human Genome Project.", Presented by President Barack H. Obama in the East Room of the White House on October 7, 2009.
  • 2007 - Presidential Medal of Freedom, United States
  • 2005 - William Allan Award, the American Society of Human Genetics
  • 2001 - AMA Scientific Achievement Award, American Medical Association
  • 1998 - Fellow of the American Academy of Arts and Sciences
  • 1993 - Member of the National Academy of Sciences
  • 1992 - E. Mead Johnson Award, Society for Pediatric Research
  • 1991 - Member of the National Academy of Medicine (NAM)
  • 1990 - Canada Gairdner International Award

Overview

Francis S. Collins is affiliated with the National Institutes of Health in the United States. Their research spans multiple fields including biochemistry, genetics, molecular biology, and medicine, with a significant focus on molecular biology and genetics. Their work covers several subfields such as molecular biology, genetics, surgery, cancer research, and public health, environmental and occupational health.

The main topics of their research include pancreatic function and diabetes, genetic associations and epidemiology, nuclear structure and function, epigenetics and DNA methylation, diabetes and associated disorders, RNA research and splicing, and RNA modifications and cancer.

Frequent publication venues for their work include:

  • UNC Libraries
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Diabetes
  • JAMA
  • Science

Recent significant papers authored by or associated with Francis S. Collins include:

  • A strategic approach to COVID-19 vaccine R&D, 2020, Science
  • In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice, 2021, Nature
  • Precision medicine in 2030-seven ways to transform healthcare, 2021, Cell
  • Rapid Scaling Up of Covid-19 Diagnostic Testing in the United States - The NIH RADx Initiative, 2020, New England Journal of Medicine
  • Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention, 2022, Nature Genetics

Frequent co-authors collaborating with Francis S. Collins include:

  • Michael R. Erdos
  • Narisu Narisu
  • Lori L. Bonnycastle
  • Michael Boehnke
  • Karen L. Mohlke

Awards received by Francis S. Collins highlight various recognitions over several decades, such as:

  • Warren Alpert Foundation Prize, 2018, for contributions to the discovery of the CFTR gene and related precision medicines for cystic fibrosis
  • Albany Medical Center Prize in Medicine and Biomedical Research, 2010
  • US President's National Medal of Science, 2008, for visionary contributions in genetics and genomics including the Human Genome Project
  • Presidential Medal of Freedom, United States, 2007
  • William Allan Award from the American Society of Human Genetics, 2005
  • AMA Scientific Achievement Award from the American Medical Association, 2001
  • Fellow of the American Academy of Arts and Sciences, 1998
  • Member of the National Academy of Sciences, 1993
  • E. Mead Johnson Award from the Society for Pediatric Research, 1992
  • Member of the National Academy of Medicine (NAM), 1991
  • Canada Gairdner International Award, 1990

Best Publications

  • Initial sequencing and analysis of the human genome.

    Eric S. Lander;Lauren M. Linton;Bruce Birren;Chad Nusbaum

  • Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

    Arturo López Castel;John D Cleary;Christopher E Pearson

  • Finding the missing heritability of complex diseases

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

  • Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

    John R. Riordan;Johanna M. Rommens;Bat Sheva Kerem;N. O.A. Alon

  • Initial sequencing and comparative analysis of the mouse genome.

    Robert H. Waterston;Kerstin Lindblad-Toh;Ewan Birney;Jane Rogers

  • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

    Marcy E. MacDonald;Christine M. Ambrose;Mabel P. Duyao;Richard H. Myers

  • Comprehensive genomic characterization defines human glioblastoma genes and core pathways

    Roger McLendon;Allan Friedman;Darrell Bigner;Erwin G. Van Meir

  • Finishing the euchromatic sequence of the human genome

    Christopher Ponting;Daniel Barker

  • The International HapMap Project

    John W. Belmont;Paul Hardenbol;Thomas D. Willis;Fuli Yu

  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

    Ewan Birney;John A. Stamatoyannopoulos;Anindya Dutta;Roderic Guigó

  • A haplotype map of the human genome

    John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol

  • A second generation human haplotype map of over 3.1 million SNPs

    Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds

  • A New Initiative on Precision Medicine

    Francis S. Collins;Harold Varmus

  • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

    M Shah;N Datson;L Srinidhi;VP Stanton

  • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

    Lucia A. Hindorff;Praveen Sethupathy;Heather A. Junkins;Erin M. Ramos

  • Identification of the cystic fibrosis gene: Chromosome walking and jumping

    Johanna M. Rommens;Michael C. Iannuzzi;Bat Sheva Kerem;Mitchell L. Drumm

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

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

  • A SINGLE ATAXIA TELANGIECTASIA GENE WITH A PRODUCT SIMILAR TO PI-3 KINASE

    Kinneret Savitsky;Anat Bar-Shira;Shlomit Gilad;Galit Rotman

  • 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

  • A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.

    Laura J. Scott;Karen L. Mohlke;Lori L. Bonnycastle;Cristen J. Willer

Frequent Co-Authors

Michael Boehnke
Michael Boehnke University of Michigan–Ann Arbor
Jaakko Tuomilehto
Jaakko Tuomilehto University of Helsinki
Anne U. Jackson
Anne U. Jackson University of Michigan–Ann Arbor
Karen L. Mohlke
Karen L. Mohlke University of North Carolina at Chapel Hill
Johanna Kuusisto
Johanna Kuusisto University of Eastern Finland
Erik Ingelsson
Erik Ingelsson Stanford University
Cecilia M. Lindgren
Cecilia M. Lindgren University of Oxford
Ruth J. F. Loos
Ruth J. F. Loos University of Copenhagen
Nicholas J. Wareham
Nicholas J. Wareham University of Cambridge

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