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Genetics
Iceland
2026

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Best Scientists

D-Index
260
Citations
274167
World Ranking
37
National Ranking
1

Genetics

D-Index
258
Citations
284608
World Ranking
3
National Ranking
1

Research.com Recognitions

  • 2026 - Research.com Genetics in Iceland Leader Award
  • 2025 - Research.com Best Scientists Award
  • 2025 - Research.com Genetics in Iceland Leader Award
  • 2024 - Research.com Genetics in Iceland Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in Iceland Leader Award
  • 2023 - Research.com Genetics in Iceland Leader Award
  • 2023 - Research.com Genetics and Molecular Biology in Iceland Leader Award
  • 2023 - Research.com Medicine in Iceland Leader Award
  • 2022 - Research.com Genetics and Molecular Biology in Iceland Leader Award
  • 2022 - Research.com Medicine in Iceland Leader Award
  • 2019 - Member of the National Academy of Sciences
  • 2017 - William Allan Award, the American Society of Human Genetics

Overview

Kari Stefansson is affiliated with deCODE Genetics in Iceland, focusing primarily on research within the fields of Biochemistry, Genetics, and Molecular Biology as well as Medicine. Their work spans a variety of subfields including Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Psychiatry and Mental Health, and Immunology. The research topics covered include Genetic Associations and Epidemiology, Genomics and Rare Diseases, Epigenetics and DNA Methylation, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Birth, Development, and Health.

Stefansson has contributed frequently to several publication venues, with the highest number of publications in bioRxiv (Cold Spring Harbor Laboratory), Nature Genetics, Nature Communications, Communications Biology, and UNC Libraries. Their research output encompasses numerous studies related to genetics and molecular biology, often intersecting with epidemiological aspects of disease.

Some of their recent papers include:

  • Spread of SARS-CoV-2 in the Icelandic Population (2020), published in New England Journal of Medicine
  • Large-scale integration of the plasma proteome with genetics and disease (2021), published in Nature Genetics
  • Humoral Immune Response to SARS-CoV-2 in Iceland (2020), published in New England Journal of Medicine
  • Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains (2023), published in Nature Genetics
  • Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants (2022), published in Nature Genetics

Stefansson frequently collaborates with several researchers, including Daníel F. Guðbjartsson, Unnur Þorsteinsdóttir, Hreinn Stefánsson, Patrick Sulem, and Guðmar Þorleifsson. These collaborations reflect ongoing efforts in genetics and population studies.

Among awards received, Stefansson was named a Member of the National Academy of Sciences in 2019 and received the William Allan Award from the American Society of Human Genetics in 2017.

Best Publications

  • Biological insights from 108 schizophrenia-associated genetic loci

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

  • 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

  • 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 analyses identify 44 risk variants and refine the genetic architecture of major depression

    Naomi R. Wray;Stephan Ripke;Stephan Ripke;Stephan Ripke;Manuel Mattheisen;MacIej Trzaskowski

  • Variant of TREM2 associated with the risk of Alzheimer's disease

    Thorlakur Jonsson;Hreinn Stefansson;Stacy Steinberg;Ingileif Jonsdottir

  • Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes.

    Struan F. A. Grant;Gudmar Thorleifsson;Inga Reynisdottir;Rafil Benediktsson

  • Genome-wide association study identifies five new schizophrenia loci

    Stephan Ripke;Alan R. Sanders;Kenneth S. Kendler;Douglas F. Levinson

  • 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

  • Plasma HDL cholesterol and risk of myocardial infarction: A mendelian randomisation study

    Benjamin F. Voight;Benjamin F. Voight;Benjamin F. Voight;Gina M. Peloso;Gina M. Peloso;Marju Orho-Melander;Ruth Frikke-Schmidt

  • Rate of de novo mutations and the importance of father’s age to disease risk

    Augustine Kong;Michael L. Frigge;Gisli Masson;Soren Besenbacher;Soren Besenbacher

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

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

  • Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

    Paul Hollingworth;Denise Harold;Rebecca Sims;Amy Gerrish

  • 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

  • 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

  • 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

  • Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

    Benjamin F. Voight;Benjamin F. Voight;Laura J. Scott;Valgerdur Steinthorsdottir;Andrew P. Morris

  • Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

    Heribert Schunkert;Inke R. König;Sekar Kathiresan;Muredach P. Reilly

  • Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

    Andrew P Morris;Benjamin F Voight;Benjamin F Voight;Tanya M Teslovich;Teresa Ferreira

  • Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116))

    Josée Dupuis;Claudia Langenberg;Inga Prokopenko;Richa Saxena

Frequent Co-Authors

Unnur Thorsteinsdottir
Unnur Thorsteinsdottir deCODE Genetics (Iceland)
Augustine Kong
Augustine Kong University of Oxford
Patrick Sulem
Patrick Sulem deCODE Genetics (Iceland)
Gudmar Thorleifsson
Gudmar Thorleifsson deCODE Genetics (Iceland)
Hreinn Stefansson
Hreinn Stefansson deCODE Genetics (Iceland)
André G. Uitterlinden
André G. Uitterlinden Erasmus University Rotterdam
Tonu Esko
Tonu Esko University of Tartu
Tim D. Spector
Tim D. Spector King's College London
Daniel F. Gudbjartsson
Daniel F. Gudbjartsson deCODE Genetics (Iceland)
Albert Hofman
Albert Hofman Harvard University

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