World's Best Scientists 2026 revealed!

D-Index & Metrics

Molecular Biology

D-Index
116
Citations
45776
World Ranking
296
National Ranking
178

Medicine

D-Index
118
Citations
51631
World Ranking
4058
National Ranking
2223

Research.com Recognitions

  • 2001 - William Allan Award, the American Society of Human Genetics
  • 1985 - Fellow of the American Association for the Advancement of Science (AAAS)
  • 1973 - Fellow of John Simon Guggenheim Memorial Foundation

Overview

Charles J. Epstein was affiliated with the University of California, San Francisco in the United States. Their research primarily focused on the field of Biochemistry, Genetics, and Molecular Biology, with particular attention to Molecular Biology, Immunology, Hematology, Neurology, and Genetics as subfields of study.

Their scientific work covered multiple core topics, including:

  • Single-cell and spatial transcriptomics
  • Epigenetics and DNA Methylation
  • Genomics and Chromatin Dynamics
  • RNA Research and Splicing
  • RNA and protein synthesis mechanisms
  • CRISPR and Genetic Engineering
  • Multiple Myeloma Research and Treatments

Epstein's publication record included frequent contributions to several prominent venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Communications
  • Nature
  • Blood
  • Genome Biology

They co-authored work extensively with a group of frequent collaborators, including:

  • B Bernstein
  • Noam Shoresh
  • Anshul Kundaje
  • Nina Farrell
  • M Snyder

Among their recent publications were:

  • "Genome-wide enhancer maps link risk variants to disease genes," 2021, Nature
  • "Exposure of iPSC-derived human microglia to brain substrates enables the generation and manipulation of diverse transcriptional states in vitro," 2023, Nature Immunology
  • "The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models," 2023, Cell
  • "Detecting sample swaps in diverse NGS data types using linkage disequilibrium," 2020, Nature Communications
  • "CDK7 controls E2F- and MYC-driven proliferative and metabolic vulnerabilities in multiple myeloma," 2023, Blood

Their contributions to science were recognized by several awards, including:

  • William Allan Award from the American Society of Human Genetics in 2001
  • Fellow of the American Association for the Advancement of Science (AAAS) in 1985
  • Fellow of the John Simon Guggenheim Memorial Foundation in 1973

Best Publications

  • Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    David T. Miller;Margaret P. Adam;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker

  • Dilated Cardiomyopathy and Neonatal Lethality in Mutant Mice Lacking Manganese Superoxide Dismutase

    Yibing Li;Ting-Ting Huang;Elaine J. Carlson;Simon Melov

  • Replicative life-span of cultivated human cells. Effects of donor's age, tissue, and genotype.

    Martin Gm;Sprague Ca;Epstein Cj

  • Werner’s Syndrome: A Review of its Symptomatology, Natural History, Pathologic Features, Genetics and Relationship to the Natural Aging Process

    Charles J. Epstein;George M. Martin;Amelia L. Schultz;Arno G. Motulsky

  • Life-long reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate aging

    Holly Van Remmen;Holly Van Remmen;Yuji Ikeno;Yuji Ikeno;Michelle Hamilton;Mohammad Pahlavani

  • Attenuation of focal cerebral ischemic injury in transgenic mice overexpressing CuZn superoxide dismutase.

    Hiroyuki Kinouchi;Charles J. Epstein;Takuji Mizui;Elaine Carlson

  • CuZnSOD deficiency leads to persistent and widespread oxidative damage and hepatocarcinogenesis later in life

    Sailaja Elchuri;Terry D. Oberley;Wenbo Qi;Richard S. Eisenstein

  • Primary afferent tachykinins are required to experience moderate to intense pain

    Yu Qing Cao;Patrick W. Mantyh;Elaine J. Carlson;Anne Marie Gillespie

  • Mitochondrial disease in superoxide dismutase 2 mutant mice

    Simon Melov;Pinar Coskun;Manisha Patel;Robbyn Tuinstra

  • Defective secretion of saliva in transgenic mice lacking aquaporin-5 water channels.

    Tonghui Ma;Yualin Song;Annemarie Gillespie;Elaine J. Carlson

  • Human copper-zinc superoxide dismutase transgenic mice are highly resistant to reperfusion injury after focal cerebral ischemia.

    G Yang;P H Chan;J Chen;E Carlson

  • Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome.

    Alexander M. Kleschevnikov;Pavel V. Belichenko;Angela J. Villar;Charles J. Epstein

  • Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome.

    David M. Holtzman;Daniela Santucci;Joshua Kilbridge;Jane Chua-Couzens

  • Reduction of CuZn-Superoxide Dismutase Activity Exacerbates Neuronal Cell Injury and Edema Formation after Transient Focal Cerebral Ischemia

    Takeo Kondo;Andrew G. Reaume;Ting Ting Huang;Elaine Carlson

  • Severely Impaired Urinary Concentrating Ability in Transgenic Mice Lacking Aquaporin-1 Water Channels

    Tonghui Ma;Baoxue Yang;Annemarie Gillespie;Elaine J. Carlson

  • Generation and phenotype of a transgenic knockout mouse lacking the mercurial-insensitive water channel aquaporin-4.

    T Ma;B Yang;A Gillespie;E J Carlson

  • Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration.

    Ahmad Salehi;Jean Dominique Delcroix;Pavel V. Belichenko;Ke Zhan

  • Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome.

    Charles J. Epstein;Karen B. Avraham;Michael Lovett;Sandra Smith

  • Nephrogenic diabetes insipidus in mice lacking aquaporin-3 water channels

    Tonghui Ma;Yuanlin Song;Baoxue Yang;Annemarie Gillespie

  • Increased Oxidative Damage Is Correlated to Altered Mitochondrial Function in Heterozygous Manganese Superoxide Dismutase Knockout Mice

    Melissa D. Williams;Holly Van Remmen;Holly Van Remmen;Craig C. Conrad;Craig C. Conrad;Ting Ting Huang

Frequent Co-Authors

Ting-Ting Huang
Ting-Ting Huang Stanford University
Pak H. Chan
Pak H. Chan Stanford University
Arlan Richardson
Arlan Richardson University of Oklahoma Health Sciences Center
William C. Mobley
William C. Mobley University of California, San Diego
Jean Lud Cadet
Jean Lud Cadet National Institute on Drug Abuse
Holly Van Remmen
Holly Van Remmen Oklahoma Medical Research Foundation
Edward L. Schneider
Edward L. Schneider University of Southern California
Serge Przedborski
Serge Przedborski Columbia University
Guo-Yuan Yang
Guo-Yuan Yang Shanghai Jiao Tong University
Pavel V. Belichenko
Pavel V. Belichenko University of California, San Diego

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