Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Shannon Marchegiani, Taylor Davis, Federico Tessadori, Gijs van Haaften, Francesco Brancati, Alexander Hoischen, Haigen Huang, Elise Valkanas, Barbara Pusey, Denny Schanze, Hanka Venselaar, Anneke T. Vulto-van Silfhout, Lynne A. Wolfe, Cynthia J. Tifft, Patricia M. Zerfas, Giovanna Zambruno, Ariana Kariminejad, Farahnaz Sabbagh-Kermani, Janice Lee, Maria G. TsokosChyi-Chia R. Lee, Victor Ferraz, Eduarda Morgana da Silva, Cathy A. Stevens, Nathalie Roche, Oliver Bartsch, Peter Farndon, Eva Bermejo-Sanchez, Brian P. Brooks, Valerie Maduro, Bruno Dallapiccola, Feliciano J. Ramos, Hon-Yin Brian Chung, Cedric Le Caignec, Fabiana Martins, Witold K. Jacyk, Laura Mazzanti, Han G. Brunner, Jeroen Bakkers, Shuo Lin, May Christine V. Malicdan, Cornelius F. Boerkoel, William A. Gahl, Bert B. A. de Vries, Mieke M. van Haelst, Martin Zenker, Thomas C. Markello

Research output: Contribution to journalArticleAcademicpeer-review

7 Citations (Scopus)
Original languageEnglish
Pages (from-to)99-110
JournalAmerican Journal of Human Genetics
Volume97
Issue number1
DOIs
Publication statusPublished - 2 Jul 2015

Cite this

Marchegiani, S., Davis, T., Tessadori, F., van Haaften, G., Brancati, F., Hoischen, A., Huang, H., Valkanas, E., Pusey, B., Schanze, D., Venselaar, H., Vulto-van Silfhout, A. T., Wolfe, L. A., Tifft, C. J., Zerfas, P. M., Zambruno, G., Kariminejad, A., Sabbagh-Kermani, F., Lee, J., ... Markello, T. C. (2015). Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. American Journal of Human Genetics, 97(1), 99-110. https://doi.org/10.1016/j.ajhg.2015.05.017