World's Best Scientists 2026 revealed!
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Genetics
USA
2026

D-Index & Metrics

Genetics

D-Index
143
Citations
86939
World Ranking
170
National Ranking
89

Medicine

D-Index
150
Citations
95090
World Ranking
1148
National Ranking
662

Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader Award
  • 2025 - Research.com Genetics in United States Leader Award

Overview

Stephen S. Rich is affiliated with the University of Virginia in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Within these broad fields, their work focuses on Genetics, Molecular Biology, Endocrinology, Diabetes and Metabolism, Surgery, and Pulmonary and Respiratory Medicine.

Their main topics of study include Genetic Associations and Epidemiology, Diabetes and associated disorders, Pancreatic function and diabetes, Epigenetics and DNA Methylation, Diabetes Management and Research, Bioinformatics and Genomic Networks, and Genomics and Rare Diseases.

Recent publications by Stephen S. Rich illustrate a focus on genetics and disease mechanisms across diverse populations and biological systems. Significant papers include:

  • The Polygenic and Monogenic Basis of Blood Traits and Diseases, 2020, Cell
  • Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations, 2020, Cell
  • Stroke genetics informs drug discovery and risk prediction across ancestries, 2022, Nature
  • Pangenomics enables genotyping of known structural variants in 5202 diverse genomes, 2021, Science
  • Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy, 2021, Nature

Stephen S. Rich has collaborated frequently with several researchers, with co-author counts highlighting ongoing partnerships. Frequent co-authors include:

  • Jerome I. Rotter (312 publications)
  • Kent D. Taylor (169 publications)
  • Xiuqing Guo (157 publications)
  • Laura M. Raffield (155 publications)
  • Bruce M. Psaty (149 publications)

The scientist's works have appeared in numerous publication venues, with the highest numbers in:

  • bioRxiv (Cold Spring Harbor Laboratory) - 102 publications
  • UNC Libraries - 67 publications
  • Circulation - 27 publications
  • Nature Communications - 25 publications
  • Diabetes - 16 publications

Best Publications

  • 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

  • Robust relationship inference in genome-wide association studies

    Ani Manichaikul;Josyf C. Mychaleckyj;Stephen S. Rich;Kathy Daly

  • Personality similarity in twins reared apart and together.

    Auke Tellegen;David T. Lykken;Thomas J. Bouchard;Kimerly J. Wilcox

  • Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.

    Daniel Taliun;Daniel N. Harris;Michael D. Kessler;Jedidiah Carlson;Jedidiah Carlson

  • Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

    Jeffrey C Barrett;David G Clayton;Patrick Concannon;Beena Akolkar

  • Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy

    Elizabeth R. Seaquist;Frederick C. Goetz;Stephen Rich;José Barbosa

  • Gut microbiomes of Malawian twin pairs discordant for kwashiorkor

    Michelle I. Smith;Tanya Yatsunenko;Mark J. Manary;Mark J. Manary;Mark J. Manary;Indi Trehan;Indi Trehan

  • Functional aspects of meningeal lymphatics in ageing and Alzheimer’s disease

    Sandro Da Mesquita;Antoine Louveau;Andrea Vaccari;Igor Smirnov

  • Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

    Aysu Okbay;Bart M L Baselmans;Jan-Emmanuel De Neve;Patrick Turley

  • A structural variation reference for medical and population genetics

    Ryan L Collins;Ryan L Collins;Harrison Brand;Harrison Brand;Konrad J Karczewski;Konrad J Karczewski;Xuefang Zhao;Xuefang Zhao

  • Common variants associated with plasma triglycerides and risk for coronary artery disease

    Ron Do;Cristen J. Willer;Ellen M. Schmidt;Sebanti Sengupta

  • A genome-wide search for asthma susceptibility loci in ethnically diverse populations

    David G. Marsh;Nancy E. Maestri;Linda R. Freidhoff;Kathleen C. Barnes

  • Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

    Gosia Trynka;Karen A Hunt;Nicholas A Bockett;Jihane Romanos

  • Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

    Qing Zhou;Dan Yang;Amanda K Ombrello;Andrey V Zavialov

  • Loss-of-function mutations in APOC3, triglycerides, and coronary disease

    Jacy Crosby;Gina M. Peloso;Gina M. Peloso;Paul L. Auer;David R. Crosslin

  • High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

    Steve Eyre;John Bowes;John Bowes;Dorothée Diogo;Dorothée Diogo;Annette Lee

  • Mendelian randomization of blood lipids for coronary heart disease

    Michael V. Holmes;Folkert W. Asselbergs;Tom M. Palmer;Fotios Drenos

  • Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

    Ron Do;Ron Do;Nathan O. Stitziel;Hong Hee Won;Hong Hee Won;Anders Berg Jørgensen

  • Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

    Daniel Taliun;Daniel N. Harris;Michael D. Kessler;Jedidiah Carlson;Jedidiah Carlson

  • Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

    Aysu Okbay;Bart M. L. Baselmans;Jan-Emmanuel De Neve;Patrick Turley

Frequent Co-Authors

Jerome I. Rotter
Jerome I. Rotter UCLA Medical Center
Bruce M. Psaty
Bruce M. Psaty University of Washington
Ani Manichaikul
Ani Manichaikul University of Virginia
Donald W. Bowden
Donald W. Bowden Wake Forest University
Eric Boerwinkle
Eric Boerwinkle The University of Texas Health Science Center at Houston
Kent D. Taylor
Kent D. Taylor David Geffen School of Medicine at UCLA
Carl D. Langefeld
Carl D. Langefeld Wake Forest University
Myriam Fornage
Myriam Fornage The University of Texas Health Science Center at Houston
Alexander P. Reiner
Alexander P. Reiner University of Washington
Susan Redline
Susan Redline Brigham and Women's Hospital

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