Concepedia

Postzygotic Mutation

Postzygotic Mutation is a genetic alteration that occurs in a somatic cell after fertilization, distinguishing it from germline mutations by its origin during postzygotic development and its potential to generate mosaicism within an organism.

103

Publications

6.5K

Citations

723

Authors

317

Institutions

Publications per year

2017–2026

28

Parents

Publications

103

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 753 citations · Full text

, , +14

FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

Mara Riminucci, Michael T. Collins, Neal S. Fedarko et al. · Journal of Clinical Investigation · 2003 · 646 citations · Full text

, , +17

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

Veronica A. Kinsler, Anna Thomas, Miho Ishida et al. · Journal of Investigative Dermatology · 2013 · 346 citations · Full text

, , +17

Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

Amy S. Paller, Andrew J. Syder, Yiu-Mo Chan et al. · New England Journal of Medicine · 1994 · 317 citations

, , +10

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

Elaine T. Lim, Mohammed Uddin, Silvia De Rubeis et al. · Nature Neuroscience · 2017 · 310 citations · Full text

, , +14

1–5 of 103

Authors

723

  1. RH
    Rudolf Happle

    Philipps University of Marburg, Germany

    17 publications · 831 citations

    14

    h-index

  2. PG
    Pamela Gehron Robey

    National Institute of Dental and Craniofacial Research, United States

    4 publications · 791 citations

    4

    h-index

  3. MR
    Mara Riminucci

    Sapienza University of Rome, Italy

    4 publications · 791 citations

    4

    h-index

  4. PB
    Paolo Bianco

    Sapienza University of Rome, Italy

    3 publications · 775 citations

    3

    h-index

  5. NC
    Natasha Cherman

    National Institute of Dental and Craniofacial Research, United States

    3 publications · 714 citations

    3

    h-index

1–5 of 723

Institutions

317

  1. Philipps University of Marburg

    Marburg, Germany

    10 h-index

    16 publications

    565 citations

  2. National Institutes of Health

    Bethesda, United States

    4 h-index

    15 publications

    3.7K citations

  3. Howard Hughes Medical Institute

    Chevy Chase, United States

    4 h-index

    14 publications

    4K citations

  4. Sapienza University of Rome

    Rome, Italy

    4 h-index

    8 publications

    1.6K citations

  5. University of Utah

    Salt Lake City, United States

    4 h-index

    11 publications

    1.2K citations

  6. National Institute of Dental and Craniofacial Research

    Bethesda, United States

    3 h-index

    10 publications

    462 citations

  7. University of California, Berkeley

    Berkeley, United States

    3 h-index

    6 publications

    531 citations

  8. Hospital for Sick Children

    Toronto, Canada

    3 h-index

    8 publications

    2K citations

1–8 of 317

Venues

  1. PubMed

    Repository · 12 publications · 405 citations

    11

    h-index

  2. American Journal of Medical Genetics Part A

    5 publications · 102 citations

    5

    h-index

  3. Journal of Medical Genetics

    JMG · 5 publications · 294 citations

    5

    h-index

  4. American Journal of Medical Genetics

    4 publications · 195 citations

    4

    h-index

  5. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 3 publications · 188 citations

    3

    h-index

1–5