Concepedia

Genotype Phenotype Relationship

Genotype Phenotype Relationship is a theoretical construct in genetics that specifies the causal and probabilistic correspondence between genetic constitution (genotype) and observable traits (phenotype), distinguishing it from broader genetic or environmental models by explicitly representing how genotypic variation underlies phenotypic expression.

691

Publications

47.3K

Citations

5.5K

Authors

1.7K

Institutions

Publications per year

2017–2026

221

Variants

Genotype-phenotype Map

Parents

Publications

691

The Drosophila melanogaster Genetic Reference Panel

Trudy F. C. Mackay, Stephen Richards, Eric A. Stone et al. · Nature · 2012 · 1.9K citations · Full text

, , +17

Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene

I. Sadaf Farooqi, Julia M. Keogh, Giles S.H. Yeo et al. · New England Journal of Medicine · 2003 · 1.8K citations · Full text

, , +16

The Epigenotype

C. H. Waddington · International Journal of Epidemiology · 2011 · 1K citations · Full text

, , +16

Mapping information-rich genotype-phenotype landscapes with genome-scale Perturb-seq

Joseph M. Replogle, Reuben A. Saunders, Angela N. Pogson et al. · Cell · 2022 · 663 citations · Full text

, , +15

Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer, Robert McFarland, Emma L. Blakely et al. · Annals of Neurology · 2007 · 582 citations

, , +8

1–5 of 691

Authors

5.5K

  1. DC
    D.N. Cooper

    Cardiff University, United Kingdom

    5 publications · 479 citations

    5

    h-index

  2. DC
    Dana C. Crawford

    Vanderbilt University, United States

    4 publications · 81 citations

    4

    h-index

  3. SE
    Sebastian E. Ahnert

    University of Cambridge, United Kingdom

    4 publications · 165 citations

    4

    h-index

  4. JS
    Jonathan S. Weissman

    Howard Hughes Medical Institute, United States

    2 publications · 742 citations

    3

    h-index

  5. OL
    Olivier Lichtarge

    Baylor College of Medicine, United States

    3 publications · 69 citations

    3

    h-index

1–5 of 5.5K

Institutions

1.7K

  1. Inserm

    Paris, France

    27 h-index

    130 publications

    14.3K citations

  2. University College London

    London, United Kingdom

    21 h-index

    79 publications

    5.8K citations

  3. University of California, San Francisco

    San Francisco, United States

    17 h-index

    44 publications

    8.1K citations

  4. Harvard University

    Cambridge, United States

    17 h-index

    52 publications

    6.2K citations

  5. Centre National de la Recherche Scientifique

    Paris, France

    16 h-index

    67 publications

    4.4K citations

  6. Université Paris Cité

    Paris, France

    15 h-index

    55 publications

    3.8K citations

  7. Assistance Publique – Hôpitaux de Paris

    Paris, France

    15 h-index

    72 publications

    7.7K citations

  8. Boston Children's Hospital

    Boston, United States

    14 h-index

    34 publications

    4.9K citations

1–8 of 1.7K

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 20 publications · 2.5K citations

    20

    h-index

  2. Human Mutation

    22 publications · 1.9K citations

    20

    h-index

  3. PubMed

    Repository · 22 publications · 834 citations

    17

    h-index

  4. PLoS ONE

    20 publications · 958 citations

    17

    h-index

  5. American Journal of Medical Genetics Part A

    12 publications · 556 citations

    11

    h-index

1–5