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Genetics

D-Index
48
Citations
7298
World Ranking
4068
National Ranking
1752

Overview

Karen Usdin is affiliated with the National Institutes of Health in the United States. Their research spans several fields within biochemistry, genetics, molecular biology, and neuroscience, focusing on molecular mechanisms underlying genetic and neurodevelopmental disorders.

The main fields of study for Karen Usdin include:

  • Biochemistry, Genetics and Molecular Biology
  • Neuroscience

Their subfields of study encompass:

  • Molecular Biology
  • Genetics
  • Cellular and Molecular Neuroscience
  • Cognitive Neuroscience
  • Pathology and Forensic Medicine

Research topics addressed in Karen Usdin's work include:

  • Genetics and Neurodevelopmental Disorders
  • Genetic Neurodegenerative Diseases
  • DNA Repair Mechanisms
  • Autism Spectrum Disorder Research
  • Mitochondrial Function and Pathology
  • RNA modifications and cancer
  • Genomic variations and chromosomal abnormalities

They have published numerous articles in various scientific journals, with a frequency concentrated in venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Scientific Reports
  • International Journal of Molecular Sciences
  • Nucleic Acids Research
  • Genes

Some of the recent publications authored or co-authored by Karen Usdin include:

  • Repeat expansions confer WRN dependence in microsatellite-unstable cancers, 2020, Nature
  • S1-END-seq reveals DNA secondary structures in human cells, 2022, Molecular Cell
  • All three mammalian MutL complexes are required for repeat expansion in a mouse cell model of the Fragile X-related disorders, 2020, PLoS Genetics
  • A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders, 2020, Nucleic Acids Research
  • Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease, 2021, Journal of Huntington's Disease

Frequent co-authors collaborating with Karen Usdin include:

  • Bruce E. Hayward
  • Daman Kumari
  • Xiao-Nan Zhao
  • Gabriel Matos-Rodrigues
  • Марек Напиерала

Best Publications

  • The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases

    Karen Usdin

  • CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro

    K. Usdin;K. J. Woodford

  • The GAA•TTC triplet repeat expanded in Friedreich’s ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner

    Ed Grabczyk;Karen Usdin

  • Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia

    Eriko Greene;Lata Mahishi;Ali Entezam;Daman Kumari

  • Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model

    Ali Entezam;Rea Biacsi;Bonnie Orrison;Tapas Saha

  • Repeat instability during DNA repair: Insights from model systems.

    Karen Usdin;Nealia C M House;Catherine H Freudenreich

  • The fragile X syndrome repeats form RNA hairpins that do not activate the interferon‐inducible protein kinase, PKR, but are cut by Dicer

    Vaishali Handa;Tapas Saha;Karen Usdin

  • The Development and Use of a DNA Polymerase Arrest Assay for the Evaluation of Parameters Affecting Intrastrand Tetraplex Formation

    M. Neale Weitzmann;Kerry J. Woodford;Karen Usdin

  • DNA repeat expansions and human disease

    K. Usdin;E. Grabczyk

  • Repeat expansions confer WRN dependence in microsatellite-unstable cancers.

    Niek van Wietmarschen;Sriram Sridharan;William J. Nathan;Anthony Tubbs

  • A novel K(+)-dependent DNA synthesis arrest site in a commonly occurring sequence motif in eukaryotes.

    K J Woodford;R M Howell;K Usdin

  • Interaction of the Transcription Factors USF1, USF2, and α-Pal/Nrf-1 with the FMR1 Promoter IMPLICATIONS FOR FRAGILE X MENTAL RETARDATION SYNDROME

    Daman Kumari;Karen Usdin

  • Linear plasmid vector for cloning of repetitive or unstable sequences in Escherichia coli

    Ronald Godiska;David Mead;Vinay Dhodda;Chengcang Wu

  • NGG-triplet repeats form similar intrastrand structures: implications for the triplet expansion diseases

    K. Usdin

  • Repeat Expansion Affects Both Transcription Initiation and Elongation in Friedreich Ataxia Cells

    Daman Kumari;Rea Erika Biacsi;Karen Usdin

  • A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis

    Mei Qin;Ali Entezam;Karen Usdin;Tianjian Huang

  • SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome.

    Rea Biacsi;Daman Kumari;Karen Usdin

  • The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in Fragile X syndrome

    Daman Kumari;Karen Usdin

  • The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.

    Rachel Adihe Lokanga;Rachel Adihe Lokanga;Xiao-Nan Zhao;Karen Usdin

  • DNA Secondary Structures and the Evolution of Hypervariable Tandem Arrays

    Kerry J. Woodford;Karen Usdin;M. Neale Weitzmann

Frequent Co-Authors

Gloria E. Hoffman
Gloria E. Hoffman Morgan State University
Rob Willemsen
Rob Willemsen Erasmus University Rotterdam
William M. Bonner
William M. Bonner National Institutes of Health
Cecilia R Giulivi
Cecilia R Giulivi University of California, Davis
Michael A. Sutton
Michael A. Sutton University of Michigan–Ann Arbor
Flora Tassone
Flora Tassone University of California, Davis
Stephanie L. Sherman
Stephanie L. Sherman Emory University
Robert L. Nussbaum
Robert L. Nussbaum University of California, San Francisco
David L. Nelson
David L. Nelson Baylor College of Medicine
Paul S. Meltzer
Paul S. Meltzer National Institutes of Health

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