Concepedia

Ocular Albinism

Ocular Albinism is a genetic disorder characterized by reduced pigmentation primarily in the retina and iris, distinguishing it from other forms of albinism by its predominantly ocular manifestation and X-linked inheritance pattern.

814

Publications

35.5K

Citations

3.2K

Authors

1K

Institutions

Publications per year

2017–2026

122

Parents

Children

Publications

814

Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism

Meredith Protas, Candace Hersey, Dawn Kochanek et al. · Nature Genetics · 2005 · 540 citations

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A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

Eugene M. Rinchik, Scott J. Bultman, Bernhard Horsthemke et al. · Nature · 1993 · 415 citations

, , +14

A syndrome associating partial albinism and immunodeficiency

C Griscelli, Anne Durandy, Delphine Guy‐Grand et al. · The American Journal of Medicine · 1978 · 385 citations

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Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4

J.M. Newton, Orit Cohen‐Barak, Nobuko Hagiwara et al. · The American Journal of Human Genetics · 2001 · 358 citations · Full text

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Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

W. A. Gahl, Mark Brantly, Muriel I. Kaiser‐Kupfer et al. · New England Journal of Medicine · 1998 · 309 citations · Full text

, , +15

1–5 of 814

Authors

3.2K

  1. RA
    Richard A. King

    University of Minnesota, United States

    43 publications · 3.1K citations

    31

    h-index

  2. RA
    Richard A. Spritz

    University of Wisconsin–Madison, United States

    29 publications · 2.2K citations

    25

    h-index

  3. CG
    C. Gail Summers

    University of Minnesota, United States

    29 publications · 1.6K citations

    22

    h-index

  4. SJ
    Seth J. Orlow

    New York University, United States

    18 publications · 785 citations

    17

    h-index

  5. YT
    Yasushi Tomita

    Nagoya University, Japan

    17 publications · 916 citations

    16

    h-index

1–5 of 3.2K

Institutions

1K

  1. University of Minnesota

    Minneapolis, United States

    33 h-index

    186 publications

    10.8K citations

  2. University of Wisconsin–Madison

    Madison, United States

    25 h-index

    88 publications

    8K citations

  3. University College London

    London, United Kingdom

    22 h-index

    109 publications

    3.6K citations

  4. National Institutes of Health

    Bethesda, United States

    20 h-index

    141 publications

    10.1K citations

  5. New York University

    New York, United States

    19 h-index

    50 publications

    3.4K citations

  6. National Eye Institute

    Bethesda, United States

    18 h-index

    61 publications

    2.6K citations

  7. Telethon Institute Of Genetics And Medicine

    Naples, Italy

    14 h-index

    64 publications

    5.1K citations

  8. Chinese Academy of Sciences

    Beijing, China

    14 h-index

    45 publications

    2.2K citations

1–8 of 1K

Venues

  1. PubMed

    Repository · 79 publications · 3.4K citations

    33

    h-index

  2. Investigative Ophthalmology & Visual Science

    IOVS · 26 publications · 1.2K citations

    20

    h-index

  3. Journal of Investigative Dermatology

    JID · 18 publications · 1K citations

    18

    h-index

  4. Human Mutation

    21 publications · 1.1K citations

    18

    h-index

  5. Archives of Ophthalmology

    21 publications · 905 citations

    18

    h-index

1–5