Concepedia

Phenotype Knowledge Representation

Phenotype Knowledge Representation is a formal computational framework that structurally encodes phenotypic data and their semantic relationships within ontology-driven models to enable standardized interpretation, integration, and inference across biomedical domains.

139

Publications

12.6K

Citations

912

Authors

403

Institutions

Publications per year

2017–2026

45

Parents

Publications

139

The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu et al. · Nucleic Acids Research · 2020 · 1.2K citations · Full text

, , +15

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Peter N. Robinson, Sebastian Köhler, Sebastian Bauer et al. · The American Journal of Human Genetics · 2008 · 1.1K citations · Full text

, , +13

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 837 citations · Full text

, , +14

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 737 citations · Full text

, , +17

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

Chris Mungall, Julie A. McMurry, Sebastian Köhler et al. · Nucleic Acids Research · 2016 · 486 citations · Full text

, , +17

1–5 of 139

Authors

912

  1. CM
    Chris Mungall

    Lawrence Berkeley National Laboratory, United States

    27 publications · 6.1K citations

    22

    h-index

  2. PN
    Peter N. Robinson

    Charité - Universitätsmedizin Berlin, Germany

    23 publications · 5.9K citations

    21

    h-index

  3. MH
    Melissa Haendel

    Oregon Health & Science University, United States

    20 publications · 5.6K citations

    19

    h-index

  4. GV
    Georgios V. Gkoutos

    University of Birmingham, United Kingdom

    16 publications · 2.3K citations

    15

    h-index

  5. RH
    Robert Hoehndorf

    King Abdullah University of Science and Technology, Saudi Arabia

    16 publications · 877 citations

    15

    h-index

1–5 of 912

Institutions

403

  1. Jackson Laboratory

    Bar Harbor, United States

    25 h-index

    92 publications

    27.9K citations

  2. University of Cambridge

    Cambridge, United Kingdom

    22 h-index

    54 publications

    5.7K citations

  3. Lawrence Berkeley National Laboratory

    Berkeley, United States

    22 h-index

    74 publications

    18.6K citations

  4. Charité - Universitätsmedizin Berlin

    Berlin, Germany

    15 h-index

    43 publications

    13.3K citations

  5. European Bioinformatics Institute

    Cambridge, United Kingdom

    14 h-index

    47 publications

    7.1K citations

  6. Oregon Health & Science University

    Portland, United States

    13 h-index

    48 publications

    14.2K citations

  7. University of Oregon

    Eugene, United States

    10 h-index

    16 publications

    4K citations

  8. Oregon State University

    Corvallis, United States

    9 h-index

    24 publications

    9.6K citations

1–8 of 403

Venues

  1. Journal of Biomedical Semantics

    JBMS · 14 publications · 555 citations

    12

    h-index

  2. Bioinformatics

    9 publications · 454 citations

    9

    h-index

  3. Nucleic Acids Research

    9 publications · 4.3K citations

    9

    h-index

  4. BMC Bioinformatics

    8 publications · 468 citations

    8

    h-index

  5. Database

    6 publications · 156 citations

    6

    h-index

1–5