Concepedia

Mosaic Variant Analysis

Mosaic Variant Analysis is a genomic investigation method that identifies and characterizes post-zygotic mutations present in a subset of an individual’s cells, distinguishing it from analogous genetic analyses by its specific focus on somatically acquired variants contributing to phenotypic heterogeneity in Autism Spectrum Disorder.

48

Publications

2.5K

Citations

573

Authors

240

Institutions

Publications per year

2017–2026

32

Parents

Publications

48

Molecular-clinical correlations in males with an expanded FMR1 mutation

Scott A. Merenstein, William E. Sobesky, Annette K. Taylor et al. · American Journal of Medical Genetics · 1996 · 206 citations

, , +14

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Deidre R. Krupp, Rebecca Barnard, Yannis Duffourd et al. · The American Journal of Human Genetics · 2017 · 205 citations · Full text

, , +13

Mosaicism in fragile X affected males

Sarah L. Nolin, Anne Glicksman, George E. Houck et al. · American Journal of Medical Genetics · 1994 · 165 citations

, , +12

The Contribution of Mosaic Variants to Autism Spectrum Disorder

Donald Freed, Jonathan Pevsner · PLoS Genetics · 2016 · 147 citations · Full text

, , +17

Clinical and molecular implications of mosaicism in FMR1 full mutations

Dalyir Pretto, Carolyn M. Yrigollen, Hiu-Tung Tang et al. · Frontiers in Genetics · 2014 · 111 citations · Full text

, , +17

1–5 of 48

Authors

573

  1. QW
    Qixi Wu

    Peking University, China

    4 publications · 175 citations

    4

    h-index

  2. XY
    Xiaoxu Yang

    University of California San Diego, United States

    4 publications · 158 citations

    4

    h-index

  3. LW
    Liping Wei

    Peking University, China

    3 publications · 146 citations

    3

    h-index

  4. RJ
    Randi J. Hagerman

    University of California, Davis, United States

    3 publications · 334 citations

    3

    h-index

  5. IE
    Ingrid E. Scheffer

    The University of Melbourne, Australia

    3 publications · 119 citations

    3

    h-index

1–5 of 573

Institutions

240

  1. University of Washington

    Seattle, United States

    5 h-index

    16 publications

    640 citations

  2. Johns Hopkins University

    Baltimore, United States

    4 h-index

    8 publications

    646 citations

  3. Peking University

    Beijing, China

    4 h-index

    42 publications

    1.7K citations

  4. University of Colorado Denver

    Denver, United States

    3 h-index

    11 publications

    1.1K citations

  5. Royal Children's Hospital

    Melbourne, Australia

    3 h-index

    23 publications

    790 citations

  6. Harvard University

    Cambridge, United States

    3 h-index

    22 publications

    951 citations

  7. Brigham and Women's Hospital

    Boston, United States

    3 h-index

    12 publications

    547 citations

  8. Peking University First Hospital

    Beijing, China

    3 h-index

    25 publications

    781 citations

1–8 of 240

Venues

  1. American Journal of Medical Genetics

    5 publications · 447 citations

    5

    h-index

  2. Clinical Genetics

    4 publications · 93 citations

    4

    h-index

  3. Genetics in Medicine

    GIM · 3 publications · 232 citations

    3

    h-index

  4. Genome Medicine

    2 publications · 107 citations

    2

    h-index

  5. Journal of Medical Genetics

    JMG · 2 publications · 68 citations

    2

    h-index

1–5