Concepedia

Microcephaly Mutations

Microcephaly Mutations is a genetic aberration characterized by a reduction in brain size due to disrupted neurogenic processes, specifically distinguished from other developmental mutations by its primary impact on prenatal neural progenitor cell proliferation and cortical development.

630

Publications

36.6K

Citations

6.2K

Authors

1.7K

Institutions

Publications per year

2017–2026

239

Parents

Publications

630

Analysis of oncogenic signaling networks in glioblastoma identifies <i>ASPM</i> as a molecular target

Steve Horvath, B. Zhang, Marc Carlson et al. · Proceedings of the National Academy of Sciences · 2006 · 672 citations · Full text

, , +17

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences

Eirı́kur Steingrı́msson, Karen J. Moore, M. Lynn Lamoreux et al. · Nature Genetics · 1994 · 504 citations

, , +12

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Karine Poirier, Nicolas Lebrun, Loïc Broix et al. · Nature Genetics · 2013 · 498 citations

, , +12

Ongoing Adaptive Evolution of <i>ASPM</i> , a Brain Size Determinant in <i>Homo sapiens</i>

Nitzan Mekel-Bobrov, Sandra L. Gilbert, Patrick Evans et al. · Science · 2005 · 462 citations

, , +17

Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler et al. · Science · 2008 · 397 citations

, , +17

1–5 of 630

Authors

6.2K

  1. WB
    William B. Dobyns

    University of Chicago, United States

    25 publications · 2.5K citations

    22

    h-index

  2. FS
    Fowzan S. Alkuraya

    King Faisal Specialist Hospital & Research Centre, Saudi Arabia

    25 publications · 1.7K citations

    21

    h-index

  3. PN
    Peter Nürnberg

    University of Cologne, Germany

    20 publications · 1.2K citations

    17

    h-index

  4. AP
    Andrew P. Jackson

    Institute of Genetics and Cancer, United Kingdom

    17 publications · 1.9K citations

    17

    h-index

  5. AV
    Alain Verloès

    Hôpital Robert-Debré, France

    20 publications · 990 citations

    16

    h-index

1–5 of 6.2K

Institutions

1.7K

  1. Inserm

    Paris, France

    31 h-index

    358 publications

    26.7K citations

  2. Howard Hughes Medical Institute

    Chevy Chase, United States

    30 h-index

    172 publications

    24.2K citations

  3. Harvard University

    Cambridge, United States

    30 h-index

    174 publications

    20.4K citations

  4. Boston Children's Hospital

    Boston, United States

    29 h-index

    193 publications

    19.4K citations

  5. Université Paris Cité

    Paris, France

    27 h-index

    198 publications

    17.2K citations

  6. Charité - Universitätsmedizin Berlin

    Berlin, Germany

    24 h-index

    129 publications

    8.5K citations

  7. King Faisal Specialist Hospital & Research Centre

    Riyadh, Saudi Arabia

    23 h-index

    143 publications

    10.2K citations

  8. University College London

    London, United Kingdom

    22 h-index

    106 publications

    7.3K citations

1–8 of 1.7K

Venues

  1. The American Journal of Human Genetics

    AJHG · 36 publications · 4K citations

    30

    h-index

  2. American Journal of Medical Genetics Part A

    43 publications · 1.5K citations

    23

    h-index

  3. Human Molecular Genetics

    21 publications · 1.4K citations

    19

    h-index

  4. Journal of Medical Genetics

    JMG · 19 publications · 1.6K citations

    18

    h-index

  5. Clinical Genetics

    30 publications · 992 citations

    18

    h-index

1–5