Concepedia

Functional Validation Of Variants

Functional Validation of Variants is a methodological framework in rare disease genetics that determines the biological impact of genetic variants by experimentally assessing their effects on gene function, protein activity, or cellular phenotypes to establish pathogenicity.

74

Publications

3.4K

Citations

894

Authors

413

Institutions

Publications per year

2017–2026

37

Parents

Publications

74

Functional Variants of the Central Bile Acid Sensor FXR Identified in Intrahepatic Cholestasis of Pregnancy

Saskia W. C. van Mil, Alexandra Milona, Peter Dixon et al. · Gastroenterology · 2007 · 258 citations

, , +13

Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic Disease

Curtis R. Warren, John O’Sullivan, Max Friesen et al. · Cell stem cell · 2017 · 196 citations · Full text

, , +12

Genome-wide functional screen of 3′UTR variants uncovers causal variants for human disease and evolution

Dustin Griesemer, James R. Xue, Steven K. Reilly et al. · Cell · 2021 · 184 citations · Full text

, , +9

Identification of Genetic Variants in Endothelial Lipase in Persons With Elevated High-Density Lipoprotein Cholesterol

Andrew S. deLemos, Megan L. Wolfe, Christopher Long et al. · Circulation · 2002 · 139 citations · Full text

, , +11

Kainate receptor subunits expressed in single cultured hippocampal neurons: Molecular and functional variants by RNA editing

Diego Ruano, Bertrand Lambolez, Jean Rossier et al. · Neuron · 1995 · 139 citations · Full text

, , +16

1–5 of 74

Authors

894

  1. SK
    Sekar Kathiresan

    Massachusetts General Hospital, United States

    2 publications · 309 citations

    2

    h-index

  2. LM
    Lili Milani

    University of Tartu, Estonia

    2 publications · 138 citations

    2

    h-index

  3. JC
    Jacob C. Ulirsch

    Broad Institute, United States

    2 publications · 209 citations

    2

    h-index

  4. AF
    André Franke

    Christian-Albrechts-Universität zu Kiel, Germany

    2 publications · 227 citations

    2

    h-index

  5. KN
    Kazuhiro Nakayama

    Jichi Medical University, Japan

    2 publications · 65 citations

    2

    h-index

1–5 of 894

Institutions

413

  1. Inserm

    Paris, France

    8 h-index

    18 publications

    520 citations

  2. Harvard University

    Cambridge, United States

    6 h-index

    64 publications

    8.3K citations

  3. Broad Institute

    Cambridge, United States

    5 h-index

    112 publications

    12.4K citations

  4. Johns Hopkins University

    Baltimore, United States

    5 h-index

    20 publications

    1.3K citations

  5. Massachusetts General Hospital

    Boston, United States

    5 h-index

    70 publications

    8K citations

  6. Johns Hopkins Medicine

    Baltimore, United States

    5 h-index

    19 publications

    1.2K citations

  7. Brigham and Women's Hospital

    Boston, United States

    4 h-index

    8 publications

    882 citations

  8. Sorbonne Université

    Paris, France

    4 h-index

    12 publications

    670 citations

1–8 of 413

Venues

  1. Human Mutation

    6 publications · 318 citations

    6

    h-index

  2. Human Genetics

    3 publications · 77 citations

    3

    h-index

  3. Human Immunology

    3 publications · 84 citations

    3

    h-index

  4. Molecular Genetics & Genomic Medicine

    3 publications · 67 citations

    3

    h-index

  5. PLoS Genetics

    2 publications · 26 citations

    2

    h-index

1–5