Concepedia

Ocular Phenotype Correlation

Ocular Phenotype Correlation is a systematic framework that establishes associations between genetic variants and observable ocular traits by integrating genomic data with detailed phenotypic characterizations of eye-related morphological, functional, or pathological features.

440

Publications

18.9K

Citations

3.2K

Authors

953

Institutions

Publications per year

2017–2026

124

Parents

Publications

440

The<i>Rd8</i>Mutation of the<i>Crb1</i>Gene Is Present in Vendor Lines of C57BL/6N Mice and Embryonic Stem Cells, and Confounds Ocular Induced Mutant Phenotypes

Mary J. Mattapallil, Eric F. Wawrousek, Chi‐Chao Chan et al. · Investigative Ophthalmology & Visual Science · 2012 · 698 citations · Full text

, , +13

Genotype–Phenotype Correlation in X-Linked Alport Syndrome

Mir Reza Bekheirnia, Berenice Reed, Martin C. Gregory et al. · Journal of the American Society of Nephrology · 2010 · 285 citations

, , +13

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Human Molecular Genetics · 2001 · 280 citations · Full text

, , +16

Mutations in the CRB1 Gene Cause Leber Congenital Amaurosis

Andrew Lotery · Archives of Ophthalmology · 2001 · 240 citations

, , +12

The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes

John M. Gardner, Yoshimichi Nakatsu, Yoichi Gondo et al. · Science · 1992 · 232 citations

, , +15

1–5 of 440

Authors

3.2K

  1. DA
    David A. Mackey

    Centre for Eye Research Australia, Australia

    11 publications · 604 citations

    11

    h-index

  2. XX
    Xueshan Xiao

    Sun Yat-sen University, China

    11 publications · 295 citations

    11

    h-index

  3. SL
    Shiqiang Li

    Sun Yat-sen University, China

    10 publications · 273 citations

    10

    h-index

  4. CC
    Caroline C. W. Klaver

    Erasmus MC, Netherlands

    10 publications · 431 citations

    10

    h-index

  5. JL
    Janey L. Wiggs

    Harvard University, United States

    10 publications · 507 citations

    10

    h-index

1–5 of 3.2K

Institutions

953

  1. University College London

    London, United Kingdom

    26 h-index

    174 publications

    6.9K citations

  2. Moorfields Eye Hospital NHS Foundation Trust

    London, United Kingdom

    18 h-index

    71 publications

    3K citations

  3. Sun Yat-sen University

    Guangzhou, China

    18 h-index

    147 publications

    4.1K citations

  4. Harvard University

    Cambridge, United States

    18 h-index

    76 publications

    3.3K citations

  5. Moorfields Eye Hospital

    London, United Kingdom

    16 h-index

    65 publications

    3.2K citations

  6. Massachusetts Eye and Ear Infirmary

    Boston, United States

    15 h-index

    57 publications

    2.7K citations

  7. Centre for Eye Research Australia

    East Melbourne, Australia

    15 h-index

    34 publications

    1.7K citations

  8. University of Oxford

    Oxford, United Kingdom

    14 h-index

    39 publications

    1.5K citations

1–8 of 953

Venues

  1. Investigative Ophthalmology & Visual Science

    IOVS · 60 publications · 3.4K citations

    36

    h-index

  2. PubMed

    Repository · 64 publications · 2.6K citations

    31

    h-index

  3. Ophthalmic Genetics

    24 publications · 632 citations

    17

    h-index

  4. PLoS ONE

    19 publications · 666 citations

    16

    h-index

  5. British Journal of Ophthalmology

    BJO · 20 publications · 631 citations

    15

    h-index

1–5