Concepedia

Functional Assay Interpretation

Functional Assay Interpretation is the systematic evaluation of experimental data derived from functional assays to determine the biological impact of genetic variants, distinguished by its focus on translating quantitative or qualitative assay outcomes into evidence for variant pathogenicity within the framework of variant classification and interpretation.

111

Publications

6.6K

Citations

765

Authors

296

Institutions

Publications per year

2017–2026

25

Parents

Publications

111

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch et al. · Genome Medicine · 2019 · 621 citations · Full text

, , +13

Chronic lymphocytic leukemia requires BCL2 to sequester prodeath BIM, explaining sensitivity to BCL2 antagonist ABT-737

Victoria Del Gaizo Moore, Jennifer R. Brown, Michael Certo et al. · Journal of Clinical Investigation · 2007 · 596 citations · Full text

, , +13

Variant Interpretation: Functional Assays to the Rescue

Lea M. Starita, Nadav Ahituv, Maitreya J. Dunham et al. · The American Journal of Human Genetics · 2017 · 427 citations · Full text

, , +14

Rhodamine efflux patterns predict P-glycoprotein substrates in the National Cancer Institute drug screen.

J S Lee, K Paull, Curtis Hose et al. · Molecular Pharmacology · 1994 · 340 citations

, , +11

Calcein accumulation as a fluorometric functional assay of the multidrug transporter

Zsolt Holló, László Homolya, C. William Davis et al. · Biochimica et Biophysica Acta (BBA) - Biomembranes · 1994 · 318 citations

, , +11

1–5 of 111

Authors

765

  1. EJ
    Emmanuel J. Favaloro

    Westmead Hospital, Australia

    4 publications · 140 citations

    4

    h-index

  2. SV
    Sean V. Tavtigian

    University of Utah, United States

    3 publications · 774 citations

    3

    h-index

  3. MW
    Matt W. Wright

    Stanford University, United States

    3 publications · 787 citations

    3

    h-index

  4. FS
    François Sichel

    Université de Caen Normandie, France

    3 publications · 70 citations

    3

    h-index

  5. VP
    Vincent Paget

    Institut de Radioprotection et de Sûreté Nucléaire, France

    3 publications · 70 citations

    3

    h-index

1–5 of 765

Institutions

296

  1. University of North Carolina at Chapel Hill

    Chapel Hill, United States

    7 h-index

    17 publications

    4.4K citations

  2. University of Utah

    Salt Lake City, United States

    6 h-index

    25 publications

    1.6K citations

  3. Erasmus MC

    Rotterdam, The Netherlands

    5 h-index

    13 publications

    334 citations

  4. National Institutes of Health

    Bethesda, United States

    4 h-index

    16 publications

    1.3K citations

  5. Johns Hopkins University

    Baltimore, United States

    4 h-index

    19 publications

    2K citations

  6. Baylor College of Medicine

    Houston, United States

    4 h-index

    6 publications

    847 citations

  7. Inserm

    Paris, France

    4 h-index

    31 publications

    535 citations

  8. Université de Caen Normandie

    Caen, France

    3 h-index

    13 publications

    283 citations

1–8 of 296

Venues

  1. Human Mutation

    5 publications · 257 citations

    5

    h-index

  2. PubMed

    Repository · 4 publications · 75 citations

    4

    h-index

  3. Thrombosis Research

    4 publications · 189 citations

    4

    h-index

  4. Blood

    3 publications · 156 citations

    3

    h-index

  5. Journal of Immunological Methods

    3 publications · 35 citations

    3

    h-index

1–5