World's Best Scientists 2026 revealed!
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Best Scientists
2025
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2025

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Best Female Scientists

D-Index
185
Citations
352991
World Ranking
34
National Ranking
25

Best Scientists

D-Index
185
Citations
352991
World Ranking
494
National Ranking
324

Genetics

D-Index
190
Citations
368598
World Ranking
33
National Ranking
21

Medicine

D-Index
189
Citations
360351
World Ranking
258
National Ranking
173

Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader Award
  • 2025 - Research.com Best Female Scientists Award
  • 2025 - Research.com Best Scientists Award
  • 2025 - Research.com Genetics 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
  • 2019 - Member of the National Academy of Medicine (NAM)

Overview

Elaine R. Mardis is affiliated with The Ohio State University in the United States and has contributed extensively to the fields of medicine and biochemistry, genetics, and molecular biology. Their published works reflect a focus on molecular biology, genetics, cancer research, oncology, and immunology.

Their research topics include:

  • Cancer Genomics and Diagnostics
  • Glioma Diagnosis and Treatment
  • Neuroblastoma Research and Treatments
  • Genomics and Rare Diseases
  • Immunotherapy and Immune Responses
  • CAR-T cell therapy research
  • RNA modifications and cancer

Recent papers authored or co-authored by Elaine R. Mardis include:

  • DGIdb 5.0: rebuilding the drug-gene interaction database for precision medicine and drug discovery platforms, 2023, Nucleic Acids Research
  • pVACtools: A Computational Toolkit to Identify and Visualize Cancer Neoantigens, 2020, Cancer Immunology Research
  • Supervised Risk Predictor of Breast Cancer Based on Intrinsic Subtypes, 2023, Journal of Clinical Oncology
  • Long non-coding RNA RAMS11 promotes metastatic colorectal cancer progression, 2020, Nature Communications
  • MYCN amplification and ATRX mutations are incompatible in neuroblastoma, 2020, Nature Communications

Among frequent co-authors are Katherine E. Miller, Catherine E. Cottrell, Kathleen M. Schieffer, Richard K. Wilson, and Vincent Magrini.

Elaine R. Mardis has published in a variety of notable venues including:

  • Neuro-Oncology
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Cancer Research
  • UNC Libraries
  • Cancer Genetics

They have contributed to book publications as well, including titles such as "New horizons for cancer reseaech and precision medicine: extended abstracts for the 50th Commemorative International Symposium of the Princess Takamatsu Cancer Research Fund: November 12-14, 2019 Tokyo, Japan" published by Princess Takamatsu Cancer Research Fund eBooks in 2020.

Elaine R. Mardis was recognized as a Member of the National Academy of Medicine (NAM) in 2019.

Best Publications

  • Initial sequencing and analysis of the human genome.

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

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • An integrated map of genetic variation from 1,092 human genomes

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

  • An obesity-associated gut microbiome with increased capacity for energy harvest

    Peter J. Turnbaugh;Ruth E. Ley;Michael A. Mahowald;Vincent Magrini

  • Comprehensive molecular portraits of human breast tumours

    Daniel C. Koboldt;Robert S. Fulton;Michael D. McLellan;Heather Schmidt

  • Structure, function and diversity of the healthy human microbiome

    Curtis Huttenhower;Curtis Huttenhower;Dirk Gevers;Rob Knight;Rob Knight;Sahar Abubucker

  • 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

  • The cancer genome atlas pan-cancer analysis project

    John N Weinstein;John N Weinstein;Eric A. Collisson;Gordon B Mills;Kenna R Mills Shaw;Kenna R Mills Shaw

  • Initial sequencing and comparative analysis of the mouse genome.

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

  • Comprehensive molecular characterization of human colon and rectal cancer

    Donna M. Muzny;Matthew N. Bainbridge;Kyle Chang;Huyen H. Dinh

  • Integrated genomic analyses of ovarian carcinoma

    D. Bell;A. Berchuck;M. Birrer;J. Chien

  • Comprehensive genomic characterization defines human glioblastoma genes and core pathways

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

  • Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia

    Timothy J. Ley;Christopher Miller;Li Ding;Benjamin J. Raphael

  • 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

  • Supervised Risk Predictor of Breast Cancer Based on Intrinsic Subtypes

    Joel S. Parker;Michael Mullins;Maggie C.U. Cheang;Samuel Leung

  • EGF receptor gene mutations are common in lung cancers from “never smokers” and are associated with sensitivity of tumors to gefitinib and erlotinib

    William Pao;Vincent Miller;Maureen Zakowski;Jennifer Doherty

  • VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

    Daniel C. Koboldt;Qunyuan Zhang;David E. Larson;Dong Shen

  • The Cancer Genome Atlas Pan-Cancer analysis project

    Kyle Chang;Chad J Creighton;Caleb Davis;Lawrence Donehower

  • Integrated genomic analyses of ovarian carcinoma

    D. Bell;A. Berchuck;M. Birrer;J. Chien

Frequent Co-Authors

Richard K. Wilson
Richard K. Wilson Nationwide Children's Hospital
Robert S. Fulton
Robert S. Fulton Washington University in St. Louis
Li Ding
Li Ding Washington University in St. Louis
Vincent Magrini
Vincent Magrini The Ohio State University
Timothy J. Ley
Timothy J. Ley Washington University in St. Louis
Lucinda Fulton
Lucinda Fulton Washington University in St. Louis
Michael D. McLellan
Michael D. McLellan Washington University in St. Louis
Malachi Griffith
Malachi Griffith Washington University in St. Louis
Daniel C. Koboldt
Daniel C. Koboldt The Ohio State University
Obi L. Griffith
Obi L. Griffith Washington University in St. Louis

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