Concepedia

Artemis Deficiency

Artemis Deficiency is a genetic disorder within the category of autosomal recessive combined immunodeficiencies, distinguished by impaired V(D)J recombination and DNA repair due to mutations in the DCLRE1C gene encoding the Artemis protein.

83

Publications

5.8K

Citations

567

Authors

216

Institutions

Publications per year

2017–2026

14

Variants

Rs-scid

Parents

Publications

83

Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

Despina Moshous, Isabelle Callebaut, Régina de Chasseval et al. · Cell · 2001 · 901 citations · Full text

, , +17

Leaky Scid Phenotype Associated with Defective V(D)J Coding End Processing in Artemis-Deficient Mice

Seán Rooney, JoAnn Sekiguchi, Chengming Zhu et al. · Molecular Cell · 2002 · 284 citations · Full text

, , +14

Omenn syndrome due to ARTEMIS mutations

Markus Ege · Blood · 2005 · 220 citations · Full text

, , +9

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV

Dietke Buck, Despina Moshous, Régina de Chasseval et al. · European Journal of Immunology · 2005 · 200 citations

, , +16

Defective DNA Repair and Increased Genomic Instability in Artemis-deficient Murine Cells

Seán Rooney, Frederick W. Alt, David B. Lombard et al. · The Journal of Experimental Medicine · 2003 · 200 citations · Full text

, , +17

1–5 of 83

Authors

567

  1. JD
    Jean‐Pierre de Villartay

    Inserm, France

    12 publications · 1.8K citations

    12

    h-index

  2. MJ
    Morton J. Cowan

    University of California, San Francisco, United States

    11 publications · 712 citations

    10

    h-index

  3. AF
    Alain Fischer

    Inserm, France

    9 publications · 1.6K citations

    9

    h-index

  4. MC
    Marina Cavazzana

    Inserm, France

    8 publications · 1.5K citations

    8

    h-index

  5. MV
    Mirjam van der Burg

    Erasmus MC, Netherlands

    6 publications · 271 citations

    6

    h-index

1–5 of 567

Institutions

216

  1. Inserm

    Paris, France

    13 h-index

    81 publications

    11.8K citations

  2. Université Paris Cité

    Paris, France

    11 h-index

    59 publications

    6K citations

  3. Hôpital Necker-Enfants Malades

    Paris, France

    11 h-index

    53 publications

    10.8K citations

  4. Délégation Paris 5

    Paris, France

    9 h-index

    48 publications

    4.5K citations

  5. University of California, San Francisco

    San Francisco, United States

    9 h-index

    39 publications

    2.6K citations

  6. UCSF Benioff Children's Hospital

    Oakland, United States

    8 h-index

    45 publications

    2K citations

  7. Institut Necker Enfants Malades

    Paris, France

    7 h-index

    42 publications

    8.7K citations

  8. Harvard University

    Cambridge, United States

    7 h-index

    34 publications

    3K citations

1–8 of 216

Venues

  1. Nucleic Acids Research

    7 publications · 287 citations

    7

    h-index

  2. Proceedings of the National Academy of Sciences

    PNAS · 5 publications · 461 citations

    5

    h-index

  3. The Journal of Immunology

    JI · 4 publications · 306 citations

    4

    h-index

  4. European Journal of Immunology

    EJI · 4 publications · 342 citations

    4

    h-index

  5. Blood

    3 publications · 495 citations

    3

    h-index

1–5