Concepedia

Human Genetic Validation

Human Genetic Validation is a scholarly contribution that establishes the biological relevance of a computational or theoretical finding by confirming its consistency with empirical human genetic data, thereby distinguishing it from purely in silico or model-driven assertions within the domain of reverse translation research.

16

Publications

2.8K

Citations

188

Authors

99

Institutions

Publications per year

2017–2026

7

Parents

Publications

16

The support of human genetic evidence for approved drug indications

Matthew R. Nelson, Hannah Tipney, Jeffery L. Painter et al. · Nature Genetics · 2015 · 1.8K citations

, , +10

Quantifying prion disease penetrance using large population control cohorts

Eric Vallabh Minikel, Sonia M. Vallabh, Monkol Lek et al. · Science Translational Medicine · 2016 · 469 citations · Full text

, , +14

Evaluating human genetic support for hypothesized metabolic disease genes

Peter Dornbos, Preeti Singh, Dongkeun Jang et al. · Cell Metabolism · 2022 · 101 citations · Full text

, , +12

Clinical, Molecular and Genetic Validation of a Murine Orthotopic Xenograft Model of Pancreatic Adenocarcinoma Using Fresh Human Specimens

Dustin M. Walters, Jayme B. Stokes, Sara J. Adair et al. · PLoS ONE · 2013 · 76 citations · Full text

, , +17

Mendelian randomization as a tool to inform drug development using human genetics

Iyas Daghlas, Dipender Gill · Cambridge Prisms Precision Medicine · 2023 · 62 citations · Full text

, , +9

1–5 of 16

Authors

188

  1. PS
    Pamela Sklar

    Massachusetts General Hospital, United States

    2 publications · 501 citations

    2

    h-index

  2. LH
    Lars H. Lund

    Karolinska Institutet, Sweden

    1 publications · 61 citations

    1

    h-index

  3. HB
    Hendrik Bösing

    Universitätsklinikum Würzburg, Germany

    1 publications · 28 citations

    1

    h-index

  4. PP
    Piero Parchi

    University of Bologna, Italy

    1 publications · 469 citations

    1

    h-index

  5. AL
    Anna Ladogana

    Istituto Superiore di Sanità, Italy

    1 publications · 469 citations

    1

    h-index

1–5 of 188

Institutions

99

  1. Karolinska Institutet

    Stockholm, Sweden

    3 h-index

    5 publications

    1.5K citations

  2. Harvard University

    Cambridge, United States

    3 h-index

    7 publications

    1.7K citations

  3. Broad Institute

    Cambridge, United States

    3 h-index

    19 publications

    6.1K citations

  4. Icahn School of Medicine at Mount Sinai

    New York, United States

    2 h-index

    5 publications

    1K citations

  5. Massachusetts General Hospital

    Boston, United States

    2 h-index

    15 publications

    4.4K citations

  6. Boston Children's Hospital

    Boston, United States

    2 h-index

    4 publications

    772 citations

  7. University of Toronto

    Toronto, Canada

    2 h-index

    5 publications

    89 citations

  8. University of California, San Francisco

    San Francisco, United States

    1 h-index

    1 publications

    62 citations

1–8 of 99

Venues

  1. Journal of Biology

    1 publications · 33 citations

    1

    h-index

  2. 1

    h-index

  3. Archives of Toxicology

    1 publications · 48 citations

    1

    h-index

  4. ACS Medicinal Chemistry Letters

    1 publications · 12 citations

    1

    h-index

  5. British Journal of Haematology

    BJH · 1 publications · 28 citations

    1

    h-index

1–5