Concepedia

Cleft Palate Mutations

Cleft Palate Mutations is a genetic mutation construct in developmental biology that specifically disrupts the molecular or cellular mechanisms underlying palatal shelf fusion during craniofacial development, leading to congenital cleft palate.

450

Publications

27.3K

Citations

2.9K

Authors

924

Institutions

Publications per year

2017–2026

78

Parents

Publications

450

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

Terri H. Beaty, Jeffrey C. Murray, Mary L. Marazita et al. · Nature Genetics · 2010 · 594 citations · Full text

, , +14

Interferon Regulatory Factor 6 ( <i>IRF6</i> ) Gene Variants and the Risk of Isolated Cleft Lip or Palate

Theresa M. Zucchero, Margaret E. Cooper, Brion S. Maher et al. · New England Journal of Medicine · 2004 · 583 citations · Full text

, , +15

Cleft palate and decreased brain γ-aminobutyric acid in mice lacking the 67-kDa isoform of glutamic acid decarboxylase

Hideo Asada, Yuuki Kawamura, Kei Maruyama et al. · Proceedings of the National Academy of Sciences · 1997 · 556 citations

, , +17

CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene

M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk et al. · Journal of Medical Genetics · 2005 · 461 citations · Full text

, , +16

Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

Roderick Clifton‐Bligh, John M. Wentworth, Peter Heinz et al. · Nature Genetics · 1998 · 429 citations

, , +17

1–5 of 450

Authors

2.9K

  1. JC
    Jeffrey C. Murray

    University of Iowa, United States

    37 publications · 4.5K citations

    29

    h-index

  2. ML
    Mary L. Marazita

    University of Pittsburgh, United States

    22 publications · 3.3K citations

    21

    h-index

  3. PS
    Philip Stanier

    University College London, United Kingdom

    14 publications · 866 citations

    14

    h-index

  4. AC
    Andrew C. Lidral

    University of Iowa, United States

    12 publications · 2.2K citations

    12

    h-index

  5. AR
    Alexandre R. Vieira

    University of Pittsburgh, United States

    12 publications · 2.3K citations

    12

    h-index

1–5 of 2.9K

Institutions

924

  1. University of Iowa

    Iowa City, United States

    38 h-index

    249 publications

    37.1K citations

  2. University of Pittsburgh

    Pittsburgh, United States

    23 h-index

    88 publications

    12.7K citations

  3. Radboud University Nijmegen

    Nijmegen, The Netherlands

    16 h-index

    80 publications

    8.8K citations

  4. University of Manchester

    Manchester, United Kingdom

    15 h-index

    36 publications

    3.5K citations

  5. Radboud University Medical Center

    Nijmegen, The Netherlands

    14 h-index

    72 publications

    8.3K citations

  6. The University of Texas Health Science Center at Houston

    Houston, United States

    13 h-index

    39 publications

    3.4K citations

  7. Johns Hopkins University

    Baltimore, United States

    13 h-index

    63 publications

    15.1K citations

  8. University College London

    London, United Kingdom

    13 h-index

    66 publications

    3.9K citations

1–8 of 924

Venues

  1. Human Molecular Genetics

    27 publications · 2.2K citations

    26

    h-index

  2. American Journal of Medical Genetics Part A

    48 publications · 1.6K citations

    23

    h-index

  3. PubMed

    Repository · 22 publications · 1.3K citations

    15

    h-index

  4. Clinical Genetics

    17 publications · 658 citations

    15

    h-index

  5. Journal of Medical Genetics

    JMG · 13 publications · 1.7K citations

    13

    h-index

1–5