Concepedia

Structural Variant Pathology

Structural Variant Pathology is a genetic disease pathology that arises from chromosomal alterations involving deletions, duplications, inversions, translocations, or copy number variations, distinguished by their disruption of gene structure or regulation leading to pathological phenotypes.

10

Publications

322

Citations

125

Authors

71

Institutions

Publications per year

2017–2026

4

Parents

Publications

10

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR ( ABCA4 )

Alexander N. Yatsenko, Noah F. Shroyer, Richard A. Lewis et al. · Human Genetics · 2001 · 136 citations

, , +13

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

Tomomi Kato, Zenichiro Kato, Izumi Kuratsubo et al. · Journal of Human Genetics · 2005 · 42 citations · Full text

, , +10

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Caroline Michot, Carine Le Goff, Edward Blair et al. · European Journal of Human Genetics · 2018 · 27 citations · Full text

, , +12

Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)

Andrea Gangfuß, Andreas Hentschel, Lorena Heil et al. · Molecular Genetics and Metabolism · 2022 · 24 citations

, , +14

Mutation of PACS1: the milder end of the spectrum

Antonio Federico Martínez‐Monseny, Mercè Bolasell, César Arjona et al. · Clinical Dysmorphology · 2018 · 20 citations

, , +7

1–5 of 10

Authors

125

  1. BG
    Brigitte Gilbert‐Dussardier

    Inserm, France

    2 publications · 42 citations

    2

    h-index

  2. EC
    E. Charluteau

    Sorbonne Université, France

    1 publications · 15 citations

    1

    h-index

  3. YC
    Yline Capri

    Inserm, France

    1 publications · 27 citations

    1

    h-index

  4. AG
    Alice Goldenberg

    Inserm, France

    1 publications · 27 citations

    1

    h-index

  5. JB
    Joan Besalduch

    Hospital Universitario Son Dureta, Spain

    1 publications · 11 citations

    1

    h-index

1–5 of 125

Institutions

71

  1. Inserm

    Paris, France

    3 h-index

    11 publications

    255 citations

  2. Délégation Paris 5

    Paris, France

    2 h-index

    8 publications

    204 citations

  3. Université Paris Cité

    Paris, France

    2 h-index

    8 publications

    204 citations

  4. Université de Rouen Normandie

    Rouen, France

    2 h-index

    2 publications

    42 citations

  5. Centre National de la Recherche Scientifique

    Paris, France

    2 h-index

    11 publications

    153 citations

  6. University of Duisburg-Essen

    Essen, Germany

    1 h-index

    2 publications

    48 citations

  7. Université Claude Bernard Lyon 1

    Villeurbanne, France

    1 h-index

    8 publications

    120 citations

  8. Institut Necker Enfants Malades

    Paris, France

    1 h-index

    1 publications

    27 citations

1–8 of 71

Venues

  1. Neuromuscular Disorders

    2 publications · 34 citations

    2

    h-index

  2. Journal of Human Genetics

    1 publications · 42 citations

    1

    h-index

  3. Journal of Investigative Dermatology

    JID · 1 publications · 12 citations

    1

    h-index

  4. European Journal of Human Genetics

    EJHG · 1 publications · 27 citations

    1

    h-index

  5. Human Genetics

    1 publications · 136 citations

    1

    h-index

1–5