Concepedia

Phenotype Interpretation

Phenotype Interpretation is the academic concept of a systematic method by which discovered phenotypic patterns in unlabeled biomedical data are semantically characterized and clinically contextualized to enable biological or medical understanding.

266

Publications

14.7K

Citations

2K

Authors

806

Institutions

Publications per year

2017–2026

90

Parents

Publications

266

Digital Phenotyping

Thomas R. Insel · JAMA · 2017 · 827 citations

, , +17

Clinical phenotypes of IgG4-related disease: an analysis of two international cross-sectional cohorts

Zachary S. Wallace, Yuqing Zhang, Cory A. Perugino et al. · Annals of the Rheumatic Diseases · 2019 · 413 citations · Full text

, , +14

Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

J. Peter van Tintelen, Mark M. Entius, Zahurul A. Bhuiyan et al. · Circulation · 2006 · 354 citations

, , +14

Plant phenomics and the need for physiological phenotyping across scales to narrow the genotype-to-phenotype knowledge gap

Dominik K. Großkinsky, Jesper Svensgaard, Svend Christensen et al. · Journal of Experimental Botany · 2015 · 270 citations · Full text

, , +14

High Titer of Autoantibodies to GAD Identifies a Specific Phenotype of Adult-Onset Autoimmune Diabetes

Raffaella Buzzetti, Sergio Di Pietro, Andrea Giaccari et al. · Diabetes Care · 2007 · 241 citations · Full text

, , +13

1–5 of 266

Authors

2K

  1. PN
    Peter N. Robinson

    Charité - Universitätsmedizin Berlin, Germany

    5 publications · 364 citations

    5

    h-index

  2. JM
    John M. Opitz

    University of Wisconsin–Madison, United States

    5 publications · 334 citations

    5

    h-index

  3. JC
    John C. Carey

    University of Utah, United States

    4 publications · 417 citations

    4

    h-index

  4. CM
    Chris Mungall

    Lawrence Berkeley National Laboratory, United States

    4 publications · 321 citations

    4

    h-index

  5. LG
    Leslie G. Biesecker

    National Human Genome Research Institute, United States

    4 publications · 412 citations

    4

    h-index

1–5 of 2K

Institutions

806

  1. Inserm

    Paris, France

    10 h-index

    40 publications

    2.6K citations

  2. Istituti di Ricovero e Cura a Carattere Scientifico

    Rome, Italy

    9 h-index

    23 publications

    516 citations

  3. University College London

    London, United Kingdom

    8 h-index

    19 publications

    1.7K citations

  4. Harvard University

    Cambridge, United States

    7 h-index

    19 publications

    2.8K citations

  5. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    7 h-index

    22 publications

    6.2K citations

  6. Baylor College of Medicine

    Houston, United States

    7 h-index

    16 publications

    605 citations

  7. Duke University

    Durham, United States

    7 h-index

    10 publications

    667 citations

  8. Assistance Publique – Hôpitaux de Paris

    Paris, France

    7 h-index

    31 publications

    1.6K citations

1–8 of 806

Venues

  1. American Journal of Medical Genetics Part A

    13 publications · 1.2K citations

    13

    h-index

  2. PubMed

    Repository · 8 publications · 289 citations

    8

    h-index

  3. American Journal of Medical Genetics

    7 publications · 205 citations

    7

    h-index

  4. Journal of Medical Genetics

    JMG · 5 publications · 236 citations

    6

    h-index

  5. Neurology

    6 publications · 597 citations

    6

    h-index

1–5