Concepedia

Twist1 Variants

TWIST1 Variants is a genetic construct representing specific alterations in the TWIST1 gene, a helix-loop-helix transcription factor, distinguished by their association with craniosynostosis phenotypes, particularly in Saethre-Chotzen syndrome, due to disruptions in cranial suture development.

28

Publications

1.6K

Citations

276

Authors

161

Institutions

Publications per year

2017–2026

4

Parents

Publications

28

Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

Timothy D. Howard, William A. Paznekas, Eric D. Green et al. · Nature Genetics · 1997 · 656 citations

, , +6

Saethre–Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

Christian Schropp, Gabriele Lieb, Birgit Petersen et al. · European Journal of Human Genetics · 2005 · 148 citations

, , +13

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

Marianne L. Seto, Anne Hing, Jocelyn Chang et al. · American Journal of Medical Genetics Part A · 2007 · 108 citations

, , +17

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature

Andreas Busche, Luitgard Graul‐Neumann, Christiane Zweier et al. · European Journal of Medical Genetics · 2011 · 81 citations

, , +17

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

Tony Roscioli, George Elakis, Timothy C. Cox et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2013 · 51 citations · Full text

, , +16

1–5 of 28

Authors

276

  1. AO
    Andrew O.M. Wilkie

    University of Oxford, United Kingdom

    3 publications · 59 citations

    3

    h-index

  2. EW
    Ethylin Wang Jabs

    Johns Hopkins University, United States

    2 publications · 688 citations

    2

    h-index

  3. SR
    Stephen R.F. Twigg

    University of Oxford, United Kingdom

    2 publications · 42 citations

    2

    h-index

  4. SA
    Steven A. Wall

    University of Oxford, United Kingdom

    2 publications · 42 citations

    2

    h-index

  5. DM
    Donna M. McDonald‐McGinn

    Children's Hospital of Philadelphia, United States

    2 publications · 53 citations

    2

    h-index

1–5 of 276

Institutions

161

  1. John Radcliffe Hospital

    Oxford, United Kingdom

    3 h-index

    7 publications

    135 citations

  2. MRC Weatherall Institute of Molecular Medicine

    Oxford, United Kingdom

    3 h-index

    11 publications

    223 citations

  3. University of Oxford

    Oxford, United Kingdom

    3 h-index

    14 publications

    282 citations

  4. Children's Healthcare of Atlanta

    Atlanta, United States

    2 h-index

    2 publications

    126 citations

  5. Neurological Surgery

    Rockville Centre, United States

    2 h-index

    7 publications

    240 citations

  6. National Institutes of Health

    Bethesda, United States

    2 h-index

    6 publications

    706 citations

  7. University of Washington

    Seattle, United States

    2 h-index

    10 publications

    966 citations

  8. Washington University in St. Louis

    St Louis, United States

    2 h-index

    10 publications

    392 citations

1–8 of 161

Venues

  1. Plastic & Reconstructive Surgery

    3 publications · 83 citations

    3

    h-index

  2. Human Mutation

    2 publications · 42 citations

    2

    h-index

  3. PLoS ONE

    2 publications · 69 citations

    2

    h-index

  4. Osteoporosis International

    1 publications · 10 citations

    1

    h-index

  5. BMC Bioinformatics

    1 publications · 25 citations

    1

    h-index

1–5