Concepedia

Hypomorphic Gene Variants

Hypomorphic Gene Variants is a genetic alteration that belongs to the class of loss-of-function mutations and is distinguished by its partial reduction in gene function, resulting in decreased but not abolished protein activity, which can lead to variable clinical manifestations in the context of Combined Immunodeficiency.

260

Publications

15.1K

Citations

2.9K

Authors

992

Institutions

Publications per year

2017–2026

98

Variants

Hypomorphic Mutations

Parents

Publications

260

Gene Mutations in Human Hæmoglobin: the Chemical Difference Between Normal and Sickle Cell Hæmoglobin

Vernon M. Ingram · Nature · 1957 · 972 citations

, , +13

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH

Kejian Zhang, Michael B. Jordan, Rebecca Marsh et al. · Blood · 2011 · 424 citations

, , +9

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis et al. · Nature Genetics · 2008 · 397 citations

, , +14

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

Gilles Courtois, Asma Smahi, Janine Reichenbach et al. · Journal of Clinical Investigation · 2003 · 375 citations · Full text

, , +15

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

António Almeida, Yoshiko Murakami, D. Mark Layton et al. · Nature Medicine · 2006 · 224 citations

, , +16

1–5 of 260

Authors

2.9K

  1. JC
    Jean‐Laurent Casanova

    Inserm, France

    7 publications · 849 citations

    7

    h-index

  2. LD
    Luigi D. Notarangelo

    National Institute of Allergy and Infectious Diseases, United States

    5 publications · 491 citations

    5

    h-index

  3. AF
    Alain Fischer

    Inserm, France

    5 publications · 682 citations

    5

    h-index

  4. FM
    Fabrizio Martelli

    Istituto Superiore di Sanità, Italy

    4 publications · 125 citations

    4

    h-index

  5. GU
    Gülbû Uzel

    National Institute of Allergy and Infectious Diseases, United States

    4 publications · 431 citations

    4

    h-index

1–5 of 2.9K

Institutions

992

  1. Inserm

    Paris, France

    22 h-index

    165 publications

    9.2K citations

  2. National Institutes of Health

    Bethesda, United States

    17 h-index

    51 publications

    5.2K citations

  3. Harvard University

    Cambridge, United States

    16 h-index

    112 publications

    6.1K citations

  4. Université Paris Cité

    Paris, France

    16 h-index

    74 publications

    5.9K citations

  5. Assistance Publique – Hôpitaux de Paris

    Paris, France

    14 h-index

    48 publications

    2.6K citations

  6. Centre National de la Recherche Scientifique

    Paris, France

    13 h-index

    66 publications

    2.6K citations

  7. Boston Children's Hospital

    Boston, United States

    12 h-index

    87 publications

    5.6K citations

  8. Hôpital Necker-Enfants Malades

    Paris, France

    11 h-index

    50 publications

    3.5K citations

1–8 of 992

Venues

  1. Human Molecular Genetics

    13 publications · 771 citations

    13

    h-index

  2. Human Mutation

    11 publications · 345 citations

    11

    h-index

  3. Blood

    10 publications · 953 citations

    10

    h-index

  4. Journal of Clinical Investigation

    JCI · 10 publications · 1.2K citations

    10

    h-index

  5. Genetics

    9 publications · 379 citations

    9

    h-index

1–5