Concepedia

Mosaicism

Mosaicism is a genetic condition characterized by the presence of two or more genetically distinct cell lines within a single individual, originating from a single zygote due to postzygotic mutations or chromosomal abnormalities.

4K

Publications

203.2K

Citations

17.4K

Authors

3.3K

Institutions

Publications per year

2017–2026

431

Variants

Genetic Mosaicism

Parents

Children

Publications

4K

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

Helen Skaletsky, Tomoko Kuroda-Kawaguchi, Patrick Minx et al. · Nature · 2003 · 2.2K citations

, , +11

Analysis of genetic mosaics in developing and adult <i>Drosophila</i> tissues

Tian Xu, Gerald M. Rubin · Development · 1993 · 2K citations

, , +9

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

I. Oberlé, F. Rousseau, Dominique Heitz et al. · Science · 1991 · 1.5K citations

, , +16

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

1–5 of 4K

Authors

17.4K

  1. JM
    John M. Opitz

    University of Wisconsin–Madison, United States

    41 publications · 1.6K citations

    25

    h-index

  2. RH
    Rudolf Happle

    Philipps University of Marburg, Germany

    28 publications · 2.5K citations

    21

    h-index

  3. JF
    James F. Reynolds

    Duke University, United States

    29 publications · 1.1K citations

    20

    h-index

  4. DK
    Dagmar K. Kalousek

    University of British Columbia, Canada

    20 publications · 1.9K citations

    20

    h-index

  5. AS
    Albert Schinzel

    University of Zurich, Switzerland

    26 publications · 984 citations

    19

    h-index

1–5 of 17.4K

Institutions

3.3K

  1. Inserm

    Paris, France

    41 h-index

    410 publications

    33.6K citations

  2. Harvard University

    Cambridge, United States

    40 h-index

    272 publications

    39.3K citations

  3. University College London

    London, United Kingdom

    39 h-index

    214 publications

    23.9K citations

  4. University of Washington

    Seattle, United States

    38 h-index

    203 publications

    22.5K citations

  5. Howard Hughes Medical Institute

    Chevy Chase, United States

    37 h-index

    111 publications

    32.4K citations

  6. University of British Columbia

    Vancouver, Canada

    33 h-index

    183 publications

    15.8K citations

  7. Yale University

    New Haven, United States

    33 h-index

    197 publications

    22.5K citations

  8. Stanford University

    Stanford, United States

    33 h-index

    127 publications

    14.7K citations

1–8 of 3.3K

Venues

  1. Prenatal Diagnosis

    189 publications · 9.6K citations

    56

    h-index

  2. American Journal of Medical Genetics

    250 publications · 10.2K citations

    55

    h-index

  3. American Journal of Medical Genetics Part A

    203 publications · 8.5K citations

    52

    h-index

  4. PubMed

    Repository · 240 publications · 9.5K citations

    47

    h-index

  5. Human Genetics

    125 publications · 6K citations

    45

    h-index

1–5