Concepedia

Tcf12 Variants

TCF12 Variants is a genetic construct denoting specific alterations in the TCF12 gene sequence that disrupt its normal function in cranial suture development, distinguishing it from other craniosynostosis-related genetic variants through its association with heterozygous loss-of-function mutations affecting helix-loop-helix transcriptional regulation.

6

Publications

413

Citations

72

Authors

42

Institutions

Publications per year

2017–2026

2

Parents

Publications

6

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Vikram Sharma, Aimée L Fenwick, Mia Brockop et al. · Nature Genetics · 2013 · 224 citations

, , +16

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Beatriz Paumard‐Hernández, Julia Berges‐Soria, Eva Barroso et al. · European Journal of Human Genetics · 2014 · 66 citations · Full text

, , +16

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations

Federico Di Rocco, Geneviève Baujat, Éric Arnaud et al. · European Journal of Human Genetics · 2014 · 46 citations · Full text

, , +8

Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Vikram Sharma, Aimée L Fenwick, Mia Brockop et al. · The Lancet · 2013 · 34 citations · Full text

, , +16

Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing

Jihoon G. Yoon, Hyung Min Hahn, Sungkyoung Choi et al. · Neurosurgery · 2019 · 26 citations · Full text

, , +17

1–5 of 6

Authors

72

  1. ES
    Elizabeth Sweeney

    University of Liverpool, United Kingdom

    2 publications · 258 citations

    2

    h-index

  2. JP
    Julie Phipps

    University of Oxford, United Kingdom

    2 publications · 258 citations

    2

    h-index

  3. LC
    Louise C. Wilson

    University College London, United Kingdom

    2 publications · 258 citations

    2

    h-index

  4. JB
    John B. Mulliken

    Boston Children's Hospital, United States

    2 publications · 258 citations

    2

    h-index

  5. DJ
    Dylan J. Murray

    Temple Street Children's University Hospital, Ireland

    2 publications · 258 citations

    2

    h-index

1–5 of 72

Institutions

42

  1. University College London

    London, United Kingdom

    2 h-index

    8 publications

    652 citations

  2. University of Liverpool

    Liverpool, United Kingdom

    2 h-index

    7 publications

    428 citations

  3. Boston Children's Hospital

    Boston, United States

    2 h-index

    7 publications

    428 citations

  4. Université Paris-Sud

    Orsay, France

    2 h-index

    22 publications

    938 citations

  5. USC Norris Comprehensive Cancer Center

    Los Angeles, United States

    2 h-index

    23 publications

    1.2K citations

  6. Musgrove Park Hospital

    Taunton, United Kingdom

    2 h-index

    7 publications

    428 citations

  7. Great Ormond Street Hospital

    London, United Kingdom

    2 h-index

    8 publications

    652 citations

  8. Our Lady's Hospital

    Navan, Ireland

    2 h-index

    22 publications

    938 citations

1–8 of 42

Venues

  1. European Journal of Human Genetics

    EJHG · 2 publications · 112 citations

    2

    h-index

  2. Neurosurgery

    1 publications · 26 citations

    1

    h-index

  3. American Journal of Medical Genetics Part A

    1 publications · 17 citations

    1

    h-index

  4. Nature Genetics

    1 publications · 224 citations

    1

    h-index

  5. The Lancet

    1 publications · 34 citations

    1

    h-index

1–5