Concepedia

Usher Syndrome

Usher Syndrome is a genetically heterogeneous autosomal recessive disorder characterized by congenital sensorineural hearing loss and progressive retinitis pigmentosa, distinguishing it from other syndromic forms of inherited sensory impairment by the specific co-occurrence of auditory and visual deficits.

672

Publications

41K

Citations

3.3K

Authors

983

Institutions

Publications per year

2017–2026

164

Variants

Graefe-usher SyndromeUsher's Syndrome

Parents

Publications

672

Defective myosin VIIA gene responsible for Usher syndrome type IB

Dominique Well, Stéphane Blanchard, Josseline Kaplan et al. · Nature · 1995 · 1.1K citations

, , +7

Retinitis Pigmentosa: Genes and Disease Mechanisms

Francesco Parmeggiani, Francesco Saverio Sorrentino, Diego Ponzin et al. · Current Genomics · 2011 · 656 citations · Full text

, , +17

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

Julie M. Bork, Linda Peters, Saima Riazuddin et al. · The American Journal of Human Genetics · 2001 · 557 citations · Full text

, , +8

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Hanno J. Bolz, Benigna von Brederlow, Alfredo Ramı́rez et al. · Nature Genetics · 2001 · 497 citations

, , +6

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Elisabeth Verpy, Michel Leibovici, Ingrid Zwaenepoel et al. · Nature Genetics · 2000 · 466 citations

, , +15

1–5 of 672

Authors

3.3K

  1. WJ
    William J. Kimberling

    Boys Town National Research Hospital, United States

    39 publications · 3.8K citations

    30

    h-index

  2. CP
    Christine Petit

    Institut Pasteur, France

    28 publications · 4.3K citations

    24

    h-index

  3. UW
    Uwe Wolfrum

    Johannes Gutenberg University Mainz, Germany

    31 publications · 2.4K citations

    24

    h-index

  4. MD
    Michael D. Weston

    Boys Town National Research Hospital, United States

    24 publications · 3.5K citations

    22

    h-index

  5. CM
    Claes Möller

    Örebro University Hospital, Sweden

    26 publications · 2.5K citations

    21

    h-index

1–5 of 3.3K

Institutions

983

  1. Boys Town National Research Hospital

    Omaha, United States

    40 h-index

    170 publications

    16.5K citations

  2. Radboud University Nijmegen

    Nijmegen, The Netherlands

    31 h-index

    256 publications

    14.8K citations

  3. Boys Town

    Omaha, United States

    30 h-index

    114 publications

    16.6K citations

  4. Inserm

    Paris, France

    30 h-index

    290 publications

    27.7K citations

  5. Harvard University

    Cambridge, United States

    26 h-index

    140 publications

    17.6K citations

  6. Institut Pasteur

    Paris, France

    26 h-index

    153 publications

    29.8K citations

  7. National Institute on Deafness and Other Communication Disorders

    Bethesda, United States

    26 h-index

    154 publications

    19.3K citations

  8. Radboud University Medical Center

    Nijmegen, The Netherlands

    26 h-index

    176 publications

    11.3K citations

1–8 of 983

Venues

  1. Human Molecular Genetics

    35 publications · 3.6K citations

    29

    h-index

  2. Investigative Ophthalmology & Visual Science

    IOVS · 31 publications · 1.7K citations

    25

    h-index

  3. Human Mutation

    25 publications · 1.4K citations

    23

    h-index

  4. PubMed

    Repository · 41 publications · 1.6K citations

    23

    h-index

  5. Clinical Genetics

    23 publications · 1.1K citations

    20

    h-index

1–5