Concepedia

Gene-disease Validity

Gene-Disease Validity is a scholarly assessment framework that establishes the strength of evidence supporting a causal relationship between a gene and a specific disease, distinguished from related concepts by its focus on systematically evaluating genetic, experimental, and clinical data to determine whether mutations in the gene are pathogenic for the disease.

12

Publications

1.1K

Citations

135

Authors

98

Institutions

Publications per year

2017–2026

10

Variants

Gene-disease Clinical Validity

Parents

Publications

12

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan et al. · The American Journal of Human Genetics · 2017 · 564 citations · Full text

, , +17

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

Roddy Walsh, Arnon Adler, Ahmad S. Amin et al. · European Heart Journal · 2021 · 143 citations · Full text

, , +17

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Kate Thomson, Elizabeth Ormondroyd, Andrew R. Harper et al. · Genetics in Medicine · 2018 · 63 citations · Full text

, , +17

Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

Courtney Thaxton, Molly Good, Marina T. DiStefano et al. · Human Mutation · 2021 · 62 citations · Full text

, , +17

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2017 · 56 citations · Full text

, , +17

1–5 of 12

Authors

135

  1. JS
    Jonathan S. Berg

    University of North Carolina at Chapel Hill, United States

    4 publications · 709 citations

    4

    h-index

  2. JS
    James S. Ware

    Imperial College London, United Kingdom

    3 publications · 239 citations

    3

    h-index

  3. ER
    Erin Rooney Riggs

    Autism & Developmental Medicine Institute, United States

    3 publications · 682 citations

    3

    h-index

  4. MT
    Marina T. DiStefano

    Broad Institute, United States

    3 publications · 682 citations

    3

    h-index

  5. HL
    Heidi L. Rehm

    Harvard University, United States

    3 publications · 682 citations

    3

    h-index

1–5 of 135

Institutions

98

  1. University of North Carolina at Chapel Hill

    Chapel Hill, United States

    7 h-index

    26 publications

    4.2K citations

  2. Baylor College of Medicine

    Houston, United States

    4 h-index

    7 publications

    1.4K citations

  3. Johns Hopkins Medicine

    Baltimore, United States

    3 h-index

    3 publications

    653 citations

  4. Mass General Brigham

    Boston, United States

    3 h-index

    6 publications

    1.3K citations

  5. Broad Institute

    Cambridge, United States

    3 h-index

    5 publications

    1.3K citations

  6. Harvard University

    Cambridge, United States

    3 h-index

    5 publications

    1.3K citations

  7. Brigham and Women's Hospital

    Boston, United States

    3 h-index

    5 publications

    1.3K citations

  8. Johns Hopkins University

    Baltimore, United States

    3 h-index

    4 publications

    686 citations

1–8 of 98

Venues

  1. Human Mutation

    3 publications · 101 citations

    3

    h-index

  2. Genetics in Medicine

    GIM · 3 publications · 111 citations

    3

    h-index

  3. Genome Medicine

    1 publications · 33 citations

    1

    h-index

  4. Circulation Genomic and Precision Medicine

    1 publications · 54 citations

    1

    h-index

  5. European Heart Journal

    1 publications · 143 citations

    1

    h-index

1–5