Publication
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. Tsokos, Chyi-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, Cédric 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
The American Journal of Human Genetics, July 2015, Elsevier
DOI: 10.1016/j.ajhg.2015.05.017