Concepedia

Somatic Mosaicism Analysis

Somatic Mosaicism Analysis is a methodological framework in mutation analysis that identifies and characterizes post-zygotic genetic variations within an individual’s somatic cells, distinguishing itself from germline mutation analysis by focusing on acquired mutations that lead to genomic heterogeneity among tissues or cell populations.

347

Publications

19.3K

Citations

3.1K

Authors

888

Institutions

Publications per year

2017–2026

84

Parents

Publications

347

Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition

Alysson R. Muotri, Vi Chu, Maria C. Marchetto et al. · Nature · 2005 · 952 citations · Full text

, , +11

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer et al. · New England Journal of Medicine · 2011 · 887 citations · Full text

, , +14

RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues

Keren Yizhak, François Aguet, Jaegil Kim et al. · Science · 2019 · 516 citations · Full text

, , +17

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

Alexej Abyzov, Jessica Mariani, Dean Palejev et al. · Nature · 2012 · 394 citations

, , +16

Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Judith G. Hall · PubMed · 1988 · 336 citations

, , +14

1–5 of 347

Authors

3.1K

  1. RN
    Ryuta Nishikomori

    Kyoto University, Japan

    9 publications · 934 citations

    9

    h-index

  2. MK
    Megumu K. Saito

    Kyoto University, Japan

    7 publications · 854 citations

    7

    h-index

  3. PS
    Paweł Stankiewicz

    Baylor College of Medicine, United States

    7 publications · 403 citations

    7

    h-index

  4. DG
    Darren G. Monckton

    University of Glasgow, United Kingdom

    6 publications · 494 citations

    6

    h-index

  5. TN
    Tatsutoshi Nakahata

    Kyoto University, Japan

    6 publications · 729 citations

    6

    h-index

1–5 of 3.1K

Institutions

888

  1. Inserm

    Paris, France

    21 h-index

    134 publications

    7.8K citations

  2. Harvard University

    Cambridge, United States

    18 h-index

    116 publications

    8.7K citations

  3. National Institutes of Health

    Bethesda, United States

    16 h-index

    68 publications

    5.8K citations

  4. Assistance Publique – Hôpitaux de Paris

    Paris, France

    13 h-index

    73 publications

    2.8K citations

  5. Baylor College of Medicine

    Houston, United States

    12 h-index

    81 publications

    7.1K citations

  6. National Human Genome Research Institute

    Bethesda, United States

    10 h-index

    40 publications

    15.2K citations

  7. Université Paris Cité

    Paris, France

    10 h-index

    49 publications

    1.6K citations

  8. Stanford University

    Stanford, United States

    10 h-index

    38 publications

    2.7K citations

1–8 of 888

Venues

  1. American Journal of Medical Genetics Part A

    34 publications · 1.2K citations

    22

    h-index

  2. Human Mutation

    19 publications · 841 citations

    17

    h-index

  3. Human Molecular Genetics

    13 publications · 1.4K citations

    13

    h-index

  4. The American Journal of Human Genetics

    AJHG · 12 publications · 1.2K citations

    12

    h-index

  5. PubMed

    Repository · 13 publications · 1K citations

    12

    h-index

1–5