Concepedia

Skin Genodermatoses

Skin Genodermatoses is a genetic disorder category characterized by inherited abnormalities in skin structure or function resulting from germline mutations in genes governing epidermal development, differentiation, or homeostasis.

288

Publications

11.2K

Citations

1.3K

Authors

528

Institutions

Publications per year

2017–2026

36

Parents

Publications

288

Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin

Rudolf Happle · Journal of the American Academy of Dermatology · 1987 · 556 citations

, , +16

Familial atypical multiple mole-melanoma syndrome.

Henry T. Lynch, B C Frichot, J. F. Lynch · Journal of Medical Genetics · 1978 · 380 citations · Full text

, , +17

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

Lisa L. Wang, Moise L. Levy, Richard A. Lewis et al. · American Journal of Medical Genetics · 2001 · 321 citations

, , +17

First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder

Sancy A. Leachman, Robyn P. Hickerson, Mary Schwartz et al. · Molecular Therapy · 2009 · 261 citations · Full text

, , +12

Stable nonviral genetic correction of inherited human skin disease

Susana Ortiz‐Urda, Bhaskar Thyagarajan, Douglas R. Keene et al. · Nature Medicine · 2002 · 246 citations

, , +14

1–5 of 288

Authors

1.3K

  1. JA
    John A. McGrath

    St Thomas' Hospital, United Kingdom

    9 publications · 279 citations

    9

    h-index

  2. RH
    Rudolf Happle

    Philipps University of Marburg, Germany

    8 publications · 1.1K citations

    8

    h-index

  3. ES
    Eli Sprecher

    Tel Aviv Sourasky Medical Center, Israel

    6 publications · 304 citations

    6

    h-index

  4. PI
    Peter Itin

    University Hospital of Basel, Switzerland

    6 publications · 213 citations

    6

    h-index

  5. MD
    Marcela Del Río

    Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, Spain

    5 publications · 168 citations

    5

    h-index

1–5 of 1.3K

Institutions

528

  1. Columbia University

    New York, United States

    7 h-index

    15 publications

    609 citations

  2. St Thomas' Hospital

    London, United Kingdom

    7 h-index

    32 publications

    1.1K citations

  3. University Medical Center Freiburg

    Freiburg im Breisgau, Germany

    7 h-index

    19 publications

    649 citations

  4. Centre for Biomedical Network Research on Rare Diseases

    Madrid, Spain

    6 h-index

    36 publications

    1.2K citations

  5. Thomas Jefferson University

    Philadelphia, United States

    6 h-index

    18 publications

    1.6K citations

  6. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas

    Madrid, Spain

    5 h-index

    21 publications

    745 citations

  7. St. John's University

    New York, United States

    5 h-index

    14 publications

    492 citations

  8. University Hospital of Basel

    Basel, Switzerland

    5 h-index

    8 publications

    327 citations

1–8 of 528

Venues

  1. Archives of Dermatology

    27 publications · 1.1K citations

    22

    h-index

  2. British Journal of Dermatology

    24 publications · 998 citations

    19

    h-index

  3. PubMed

    Repository · 23 publications · 869 citations

    17

    h-index

  4. Journal of Investigative Dermatology

    JID · 15 publications · 671 citations

    14

    h-index

  5. Pediatric Dermatology

    12 publications · 281 citations

    12

    h-index

1–5