Concepedia

Functional Characterization Of Variants

Functional Characterization of Variants is the systematic experimental and computational assessment of genetic variants associated with Hereditary Palmoplantar Keratoderma to determine their biological impact on protein function, cellular processes, and disease phenotype, thereby distinguishing pathogenic mutations from benign polymorphisms within the broader category of genetic variant analysis.

166

Publications

8.4K

Citations

1.6K

Authors

562

Institutions

Publications per year

2017–2026

57

Parents

Publications

166

Functional variants in the <i>LRRK2</i> gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease

Ken Hui, Heriberto Fernandez-Hernandez, Jianzhong Hu et al. · Science Translational Medicine · 2018 · 408 citations · Full text

, , +15

Common Promoter Variant in Cyclooxygenase-2 Represses Gene Expression

Anastasia Papafili, Michael Hill, David Brull et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2002 · 332 citations · Full text

, , +14

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

The inherent mutational tolerance and antigenic evolvability of influenza hemagglutinin

Bargavi Thyagarajan, Jesse D. Bloom · eLife · 2014 · 217 citations · Full text

, , +17

A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis

Ronald Allan M. Panganiban, Maoyun Sun, Amber Dahlin et al. · Journal of Allergy and Clinical Immunology · 2018 · 204 citations · Full text

, , +13

1–5 of 166

Authors

1.6K

  1. BM
    Béla Melegh

    University of Pecs, Hungary

    5 publications · 91 citations

    4

    h-index

  2. KC
    Kaare Christensen

    University of Southern Denmark, Denmark

    3 publications · 309 citations

    3

    h-index

  3. LM
    Lili Magyari

    University of Pecs, Hungary

    3 publications · 71 citations

    3

    h-index

  4. QW
    Qingyi Wei

    The University of Texas MD Anderson Cancer Center, United States

    3 publications · 92 citations

    3

    h-index

  5. AM
    Anita Maász

    University of Pecs, Hungary

    3 publications · 53 citations

    3

    h-index

1–5 of 1.6K

Institutions

562

  1. Harvard University

    Cambridge, United States

    8 h-index

    25 publications

    2.2K citations

  2. Johns Hopkins University

    Baltimore, United States

    7 h-index

    17 publications

    2.2K citations

  3. Duke Medical Center

    Durham, United States

    5 h-index

    31 publications

    1.2K citations

  4. Duke University

    Durham, United States

    5 h-index

    29 publications

    1.1K citations

  5. National Institutes of Health

    Bethesda, United States

    5 h-index

    15 publications

    809 citations

  6. Fred Hutch Cancer Center

    Seattle, United States

    5 h-index

    17 publications

    1.4K citations

  7. The University of Tokyo

    Tokyo, Japan

    5 h-index

    19 publications

    1.2K citations

  8. University of Washington

    Seattle, United States

    5 h-index

    14 publications

    940 citations

1–8 of 562

Venues

  1. Nature Communications

    5 publications · 312 citations

    5

    h-index

  2. Human Molecular Genetics

    5 publications · 314 citations

    5

    h-index

  3. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 4 publications · 240 citations

    4

    h-index

  4. The American Journal of Human Genetics

    AJHG · 4 publications · 315 citations

    4

    h-index

  5. PLoS ONE

    4 publications · 200 citations

    4

    h-index

1–5