Concepedia

Cleft Lip Mutations

Cleft Lip Mutations is a genetic disorder characterized by heritable mutations in developmental genes that disrupt craniofacial morphogenesis, resulting in congenital orofacial clefting due to improper fusion of the maxillary and medial nasal processes during embryogenesis.

211

Publications

12.5K

Citations

1.3K

Authors

487

Institutions

Publications per year

2017–2026

35

Parents

Publications

211

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

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

Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

Fedik Rahimov, Mary L. Marazita, Axel Visel et al. · Nature Genetics · 2008 · 427 citations · Full text

, , +15

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

Hanna T. Gazda, Mee Rie Sheen, Adrianna Vlachos et al. · The American Journal of Human Genetics · 2008 · 417 citations · Full text

, , +15

1–5 of 211

Authors

1.3K

  1. JC
    Jeffrey C. Murray

    University of Iowa, United States

    26 publications · 3.9K citations

    23

    h-index

  2. ML
    Mary L. Marazita

    University of Pittsburgh, United States

    21 publications · 3.7K citations

    21

    h-index

  3. AC
    Andrew C. Lidral

    University of Iowa, United States

    11 publications · 2.2K citations

    11

    h-index

  4. SD
    Sandra Daack‐Hirsch

    University of Iowa, United States

    10 publications · 1.8K citations

    10

    h-index

  5. ME
    Margaret E. Cooper

    University of Pittsburgh, United States

    10 publications · 2.4K citations

    10

    h-index

1–5 of 1.3K

Institutions

487

  1. University of Iowa

    Iowa City, United States

    31 h-index

    193 publications

    35K citations

  2. University of Pittsburgh

    Pittsburgh, United States

    21 h-index

    74 publications

    13.6K citations

  3. University of Southern Denmark

    Odense, Denmark

    11 h-index

    18 publications

    4.2K citations

  4. Harvard University

    Cambridge, United States

    9 h-index

    15 publications

    1.8K citations

  5. Johns Hopkins University

    Baltimore, United States

    9 h-index

    51 publications

    14K citations

  6. Stomatology Hospital

    Xi'an, China

    8 h-index

    32 publications

    769 citations

  7. University of British Columbia

    Vancouver, Canada

    8 h-index

    24 publications

    2.2K citations

  8. Universidade de São Paulo

    São Paulo, Brazil

    8 h-index

    41 publications

    2.2K citations

1–8 of 487

Venues

  1. American Journal of Medical Genetics Part A

    17 publications · 797 citations

    15

    h-index

  2. PubMed

    Repository · 13 publications · 596 citations

    12

    h-index

  3. Human Molecular Genetics

    10 publications · 786 citations

    10

    h-index

  4. European Journal of Human Genetics

    EJHG · 9 publications · 457 citations

    9

    h-index

  5. Journal of Dental Research

    JDR · 8 publications · 251 citations

    8

    h-index

1–5