Concepedia

Synaptic Gene Mutations

Synaptic Gene Mutations is a genetic alteration in genes that encode proteins essential for synaptic structure, function, or plasticity, distinguishing it from other gene mutations by its specific impact on neuronal communication and synapse-related molecular pathways.

74

Publications

9.2K

Citations

721

Authors

295

Institutions

Publications per year

2017–2026

19

Parents

Publications

74

Cortico-striatal synaptic defects and OCD-like behaviours in Sapap3-mutant mice

Jeffrey M. Welch, Jing Lü, Ramona M. Rodriguiz et al. · Nature · 2007 · 856 citations · Full text

, , +16

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

Sarah R Gilman, Ivan Iossifov, Dan Levy et al. · Neuron · 2011 · 711 citations

, , +17

Mutations causing syndromic autism define an axis of synaptic pathophysiology

Benjamin D. Auerbach, Emily K. Osterweil, Mark F. Bear · Nature · 2011 · 598 citations · Full text

, , +14

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Simone Berkel, Christian R. Marshall, Jennifer Howe et al. · Nature Genetics · 2010 · 578 citations

, , +13

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

Stéphane Jamain, Konstantin Radyushkin, Kurt Hammerschmidt et al. · Proceedings of the National Academy of Sciences · 2008 · 561 citations · Full text

, , +17

1–5 of 74

Authors

721

  1. LM
    Laurent Mottron

    Université de Montréal, Canada

    3 publications · 676 citations

    3

    h-index

  2. JD
    Joseph D. Buxbaum

    Icahn School of Medicine at Mount Sinai, United States

    3 publications · 612 citations

    3

    h-index

  3. SW
    Stephen W. Scherer

    Hospital for Sick Children, Canada

    3 publications · 787 citations

    3

    h-index

  4. GA
    Guy A. Rouleau

    McGill University, Canada

    3 publications · 676 citations

    3

    h-index

  5. JG
    Julie Gauthier

    Université de Montréal, Canada

    3 publications · 676 citations

    3

    h-index

1–5 of 721

Institutions

295

  1. Icahn School of Medicine at Mount Sinai

    New York, United States

    6 h-index

    28 publications

    4.4K citations

  2. Université Paris Cité

    Paris, France

    6 h-index

    29 publications

    3.2K citations

  3. Howard Hughes Medical Institute

    Chevy Chase, United States

    5 h-index

    11 publications

    2.7K citations

  4. Inserm

    Paris, France

    5 h-index

    37 publications

    3.6K citations

  5. Yale University

    New Haven, United States

    4 h-index

    17 publications

    1.6K citations

  6. Radboud University Medical Center

    Nijmegen, The Netherlands

    4 h-index

    14 publications

    2.3K citations

  7. University of Toronto

    Toronto, Canada

    4 h-index

    13 publications

    4K citations

  8. Radboud University Nijmegen

    Nijmegen, The Netherlands

    4 h-index

    14 publications

    2.3K citations

1–8 of 295

Venues

  1. Journal of Neuroscience

    5 publications · 429 citations

    4

    h-index

  2. Human Mutation

    3 publications · 675 citations

    3

    h-index

  3. Molecular Autism

    MA · 3 publications · 218 citations

    3

    h-index

  4. Neurobiology of Aging

    3 publications · 222 citations

    3

    h-index

  5. Nature

    3 publications · 1.6K citations

    3

    h-index

1–5