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Genetics
USA
2026
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Genetics and Molecular Biology
USA
2024

D-Index & Metrics

Genetics

D-Index
154
Citations
107978
World Ranking
120
National Ranking
61

Medicine

D-Index
155
Citations
109765
World Ranking
940
National Ranking
538

Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader 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
  • 2016 - William Allan Award, the American Society of Human Genetics
  • 2007 - Fellow of the American Association for the Advancement of Science (AAAS)
  • 1987 - Metlife Foundation Award for Medical Research in Alzheimer's Disease

Overview

James F. Gusella is a researcher affiliated with Harvard University in the United States. Their work primarily spans the fields of Biochemistry, Genetics and Molecular Biology, as well as Neuroscience, with significant contributions to Molecular Biology, Cellular and Molecular Neuroscience, Genetics, Neurology, and Plant Science.

The scientist's main research topics include Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Genomic Variations and Chromosomal Abnormalities, Neurological Disorders and Treatments, CRISPR and Genetic Engineering, Genetics and Neurodevelopmental Disorders, and RNA Research and Splicing.

Among recent papers featuring James F. Gusella's research contributions are:

  • "A cross-disorder dosage sensitivity map of the human genome" (2022, Cell)
  • "Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease" (2021, Neurology)
  • "Huntington's Disease Pathogenesis: Two Sequential Components" (2021, Journal of Huntington s Disease)
  • "Genetic modifiers of Huntington disease differentially influence motor and cognitive domains" (2022, The American Journal of Human Genetics)
  • "Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out" (2020, Human Molecular Genetics)

Frequent co-authors collaborating with James F. Gusella include Diane Lucente, Michael E. Talkowski, Marcy E. MacDonald, Jong-Min Lee, and Serkan Erdin.

Preferred publication venues for their work encompass bioRxiv (Cold Spring Harbor Laboratory), The American Journal of Human Genetics, Human Molecular Genetics, UNC Libraries, and the Journal of Huntington s Disease.

James F. Gusella has been recognized by several awards over the course of their career. These include the William Allan Award from the American Society of Human Genetics in 2016, being named a Fellow of the American Association for the Advancement of Science (AAAS) in 2007, and the Metlife Foundation Award for Medical Research in Alzheimer's Disease in 1987.

Best Publications

  • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

    Marcy E. MacDonald;Christine M. Ambrose;Mabel P. Duyao;Richard H. Myers

  • Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.

    A. M. Saunders;W. J. Strittmatter;D. Schmechel;P. H. St. George-Hyslop

  • A polymorphic DNA marker genetically linked to Huntington's disease

    James F. Gusella;Nancy S. Wexler;P. Michael Conneally;Susan L. Naylor

  • The GPR54 Gene as a Regulator of Puberty

    Stephanie B. Seminara;Sophie Messager;Emmanouella E. Chatzidaki;Rosemary R. Thresher

  • Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus

    R. E. Tanzi;J. F. Gusella;P. C. Watkins;G. A. P. Bruns

  • Association between Microdeletion and Microduplication at 16p11.2 and Autism

    Lauren A. Weiss;Yiping Shen;Joshua M. Korn;Joshua M. Korn;Dan E. Arking

  • Rapid induction of Alzheimer A beta amyloid formation by zinc.

    Ashley I. Bush;Warren H. Pettingell;Gerd Multhaup;Marc D. Paradis

  • A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

    James A. Trofatter;Mia M. MacCollin;Joni L. Rutter;Jill R. Murrell

  • The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

    R E Tanzi;K Petrukhin;I Chernov;J L Pellequer

  • The genetic defect causing familial Alzheimer's disease maps on chromosome 21

    Peter H. St George-Hyslop;Rudolph E. Tanzi;Ronald J. Polinsky;Jonathan L. Haines

  • Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease.

    Rudolph E. Tanzi;Andrea I. McClatchey;Edward D. Lamperti;Edward D. Lamperti;Edward D. Lamperti;Lydia Villa-Komaroff;Lydia Villa-Komaroff

  • Trinucleotide repeat length instability and age of onset in Huntington's disease

    M Duyao;C Ambrose;R Myers;A Novelletto

  • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

    Laurie J. Ozelius;Jeffrey W. Hewett;Curtis E. Page;Susan B. Bressman

  • Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor

    Steven M. Reppert;Catherine Godson;Cathy D. Mahle;David R. Weaver

  • Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

    Nancy S. Wexler;Judith Lorimer;Julie Porter;Fidela Gomez

  • Inactivation of the mouse Huntington's disease gene homolog Hdh.

    Mabel P. Duyao;Anna B. Auerbach;Angela Ryan;Francesca Persichetti

  • Association between microdeletion and microduplication at 16p11.2 and autism

    Lauren A. Weiss;Yiping Shen;Joshua M. Korn;Dan E. Arking

  • Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

    Russell G. Snell;John C. MacMillan;Jeremy Peter Cheadle;Iain Fenton

  • A COMPLETE GENOMIC SCREEN FOR MULTIPLE SCLEROSIS UNDERSCORES A ROLE FOR THE MAJOR HISTOCOMPATIBILITY COMPLEX

    Haines Jl;Ter-Minassian M;Bazyk A;Gusella Jf

  • Huntington's disease. Pathogenesis and management.

    J B Martin;J F Gusella

Frequent Co-Authors

Marcy E. MacDonald
Marcy E. MacDonald Harvard University
Michael E. Talkowski
Michael E. Talkowski Harvard University
Richard H. Myers
Richard H. Myers Boston University
Yiping Shen
Yiping Shen Boston Children's Hospital
Rudolph E. Tanzi
Rudolph E. Tanzi Harvard University
Cynthia C. Morton
Cynthia C. Morton Brigham and Women's Hospital
Vijaya Ramesh
Vijaya Ramesh Harvard University
Xandra O. Breakefield
Xandra O. Breakefield Harvard University
Laurie J. Ozelius
Laurie J. Ozelius Harvard University
Susan A. Slaugenhaupt
Susan A. Slaugenhaupt Harvard University

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