Concepedia

Disease Expressivity

Disease Expressivity is a clinical genetics construct that denotes the degree or severity of phenotypic manifestations of a heritable disorder among individuals with the same pathogenic genotype, distinguishing it from related concepts such as penetrance by quantifying variation in symptom intensity rather than the mere presence or absence of disease.

24

Publications

1.3K

Citations

321

Authors

143

Institutions

Publications per year

2017–2026

4

Parents

Publications

24

Molecular screening ofSHH,ZIC2,SIX3, andTGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

Christ�le Dubourg, Le�la Lazaro, Laurent Pasquier et al. · Human Mutation · 2004 · 145 citations

, , +17

The phenotype of Darier's disease: penetrance and expressivity in adults and children

C.S. Munro · British Journal of Dermatology · 1992 · 144 citations

, , +16

A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation

Nathan Orr, Rima Arnaout, Lorne J. Gula et al. · Nature Communications · 2016 · 143 citations · Full text

, , +17

FAMILIAL HODGKIN'S DISEASE: ITS SIGNIFICANCE AND IMPLICATIONS

Dennis V. Razis, Henry D. Diamond, L F CRAVER · Annals of Internal Medicine · 1959 · 139 citations

, , +7

Identification of Mutations in the SLC4A11 Gene in Patients With Recessive Congenital Hereditary Endothelial Dystrophy

Boomiraj Hemadevi · Archives of Ophthalmology · 2008 · 117 citations

, , +11

1–5 of 24

Authors

321

  1. SS
    Susen Schaake

    University of Lübeck, Germany

    1 publications · 96 citations

    1

    h-index

  2. MB
    Martine Blayau

    Centre Hospitalier Universitaire de Rennes, France

    1 publications · 145 citations

    1

    h-index

  3. MH
    Mari Holsti

    Uppsala University, Sweden

    1 publications · 37 citations

    1

    h-index

  4. TL
    Tara Lees

    Guy's and St Thomas' NHS Foundation Trust, United Kingdom

    1 publications · 30 citations

    1

    h-index

  5. KB
    Kimberly Begemann

    University of Lübeck, Germany

    1 publications · 96 citations

    1

    h-index

1–5 of 321

Institutions

143

  1. Royal Victoria Infirmary

    Newcastle upon Tyne, United Kingdom

    2 h-index

    2 publications

    174 citations

  2. Centre Hospitalier Universitaire de Rennes

    Rennes, France

    2 h-index

    6 publications

    762 citations

  3. Harvard University

    Cambridge, United States

    2 h-index

    5 publications

    444 citations

  4. Université de Rennes

    Rennes, France

    2 h-index

    4 publications

    472 citations

  5. Baylor College of Medicine

    Houston, United States

    2 h-index

    3 publications

    125 citations

  6. Hôpital l'Archet

    Nice, France

    1 h-index

    1 publications

    37 citations

  7. Boston Children's Museum

    Boston, United States

    1 h-index

    3 publications

    261 citations

  8. Universidad de Navarra

    Pamplona, Spain

    1 h-index

    3 publications

    54 citations

1–8 of 143

Venues

  1. Annals of Neurology

    2 publications · 141 citations

    2

    h-index

  2. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 2 publications · 61 citations

    2

    h-index

  3. Journal of Investigative Dermatology

    JID · 1 publications · 30 citations

    1

    h-index

  4. Journal of Aerosol Medicine

    1 publications · 14 citations

    1

    h-index

  5. Journal of Pediatric Gastroenterology and Nutrition

    JPGN · 1 publications · 31 citations

    1

    h-index

1–5