Concepedia

Hereditary Cataract

Hereditary Cataract is a genetic lens disorder characterized by the development of opacities in the ocular lens, distinguished from other cataract types by its transmission through inherited mutations in specific genes associated with lens transparency.

735

Publications

31.8K

Citations

2.9K

Authors

876

Institutions

Publications per year

2017–2026

76

Variants

Inherited Cataract

Parents

Publications

735

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

M. Litt · Human Molecular Genetics · 1998 · 447 citations

, , +15

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

Elena V. Semina, Robert E. Ferrell, Helen A. Mintz-Hittner et al. · Nature Genetics · 1998 · 393 citations

, , +12

A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q

Alan Shiels, Donna S. Mackay, Alexander Ionides et al. · The American Journal of Human Genetics · 1998 · 383 citations · Full text

, , +11

HEREDITARY DEGENERATION OF THE RAT RETINA

Margherita Cotonio Bourne, Donald Campbell, Katharine Tansley · British Journal of Ophthalmology · 1938 · 311 citations · Full text

, , +15

Connexin46 Mutations in Autosomal Dominant Congenital Cataract

Donna S. Mackay, Alexander Ionides, Zoha Kibar et al. · The American Journal of Human Genetics · 1999 · 300 citations · Full text

, , +12

1–5 of 735

Authors

2.9K

  1. JG
    Jochen Graw

    Helmholtz Zentrum München, Germany

    29 publications · 1.1K citations

    21

    h-index

  2. JF
    Jack Favor

    Institute of Groundwater Ecology, Germany

    24 publications · 992 citations

    19

    h-index

  3. KY
    Ke Yao

    Second Affiliated Hospital of Zhejiang University, China

    22 publications · 553 citations

    17

    h-index

  4. AS
    Alan Shiels

    Washington University in St. Louis, United States

    22 publications · 2.2K citations

    17

    h-index

  5. XM
    Xu Ma

    Chinese Academy of Medical Sciences & Peking Union Medical College, China

    20 publications · 520 citations

    16

    h-index

1–5 of 2.9K

Institutions

876

  1. National Institutes of Health

    Bethesda, United States

    26 h-index

    89 publications

    6K citations

  2. University College London

    London, United Kingdom

    26 h-index

    114 publications

    8.3K citations

  3. National Eye Institute

    Bethesda, United States

    25 h-index

    109 publications

    5.6K citations

  4. Chinese Academy of Medical Sciences & Peking Union Medical College

    Beijing, China

    18 h-index

    60 publications

    1.9K citations

  5. Washington University in St. Louis

    St Louis, United States

    16 h-index

    31 publications

    2.8K citations

  6. Zhejiang University

    Hangzhou, China

    16 h-index

    35 publications

    837 citations

  7. Harbin Medical University

    Harbin, China

    15 h-index

    68 publications

    1.9K citations

  8. Moorfields Eye Hospital

    London, United Kingdom

    15 h-index

    33 publications

    3.4K citations

1–8 of 876

Venues

  1. PubMed

    Repository · 158 publications · 5.9K citations

    42

    h-index

  2. Experimental Eye Research

    29 publications · 1K citations

    20

    h-index

  3. The American Journal of Human Genetics

    AJHG · 20 publications · 2.4K citations

    20

    h-index

  4. PLoS ONE

    25 publications · 718 citations

    18

    h-index

  5. Investigative Ophthalmology & Visual Science

    IOVS · 21 publications · 1K citations

    17

    h-index

1–5