Concepedia

Efnb1 Variants

EFNB1 Variants is a genetic variation construct referring to specific allelic alterations in the EFNB1 gene, distinguished by their association with craniofacial dysmorphogenesis in craniosynostosis syndromes, particularly in the context of cranial suture development and cell signaling regulation.

13

Publications

547

Citations

131

Authors

79

Institutions

Publications per year

2017–2026

5

Parents

Publications

13

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Kerry A. Miller, Stephen R.F. Twigg, Simon J. McGowan et al. · Journal of Medical Genetics · 2016 · 123 citations · Full text

, , +16

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Stephen R.F. Twigg, Kazuya Matsumoto, Alexa Kidd et al. · The American Journal of Human Genetics · 2006 · 104 citations · Full text

, , +13

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

Marijke E.P. van den Elzen, Stephen R.F. Twigg, Jacqueline A.C. Goos et al. · European Journal of Human Genetics · 2013 · 55 citations · Full text

, , +14

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

Pradeep Vasudevan, Stephen R.F. Twigg, John B. Mulliken et al. · European Journal of Human Genetics · 2006 · 46 citations

, , +9

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

Huifang Yan, Zhen Shi, Ye Wu et al. · BMC Medical Genetics · 2019 · 39 citations · Full text

, , +17

1–5 of 13

Authors

131

  1. SR
    Stephen R.F. Twigg

    University of Oxford, United Kingdom

    5 publications · 347 citations

    5

    h-index

  2. AO
    Andrew O.M. Wilkie

    University of Oxford, United Kingdom

    4 publications · 328 citations

    4

    h-index

  3. JB
    John B. Mulliken

    Boston Children's Hospital, United States

    3 publications · 183 citations

    3

    h-index

  4. IM
    Irene M.J. Mathijssen

    Erasmus MC, Netherlands

    2 publications · 159 citations

    2

    h-index

  5. LC
    Louise C. Wilson

    University College London, United Kingdom

    2 publications · 227 citations

    2

    h-index

1–5 of 131

Institutions

79

  1. University of Oxford

    Oxford, United Kingdom

    4 h-index

    17 publications

    1.7K citations

  2. John Radcliffe Hospital

    Oxford, United Kingdom

    3 h-index

    5 publications

    325 citations

  3. MRC Weatherall Institute of Molecular Medicine

    Oxford, United Kingdom

    3 h-index

    12 publications

    1.3K citations

  4. Erasmus MC

    Rotterdam, The Netherlands

    2 h-index

    6 publications

    379 citations

  5. Erasmus University Rotterdam

    Rotterdam, The Netherlands

    2 h-index

    6 publications

    602 citations

  6. University of California, San Francisco

    San Francisco, United States

    2 h-index

    12 publications

    212 citations

  7. University of Liverpool

    Liverpool, United Kingdom

    2 h-index

    3 publications

    350 citations

  8. Birmingham Women's Hospital

    Birmingham, United Kingdom

    2 h-index

    2 publications

    227 citations

1–8 of 79

Venues

  1. European Journal of Human Genetics

    EJHG · 3 publications · 133 citations

    3

    h-index

  2. American Journal of Medical Genetics Part A

    3 publications · 77 citations

    3

    h-index

  3. BMC Medical Genetics

    1 publications · 39 citations

    1

    h-index

  4. The American Journal of Human Genetics

    AJHG · 1 publications · 104 citations

    1

    h-index

  5. Stem Cell Reports

    1 publications · 13 citations

    1

    h-index

1–5