Publication
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
M. Chiara Manzini, Dimira E. Tambunan, R. Sean Hill, Tim W. Yu, Thomas M. Maynard, Erin L. Heinzen, Kevin V. Shianna, Christine R. Stevens, Jennifer N. Partlow, Brenda J. Barry, Jacqueline Rodriguez, Vandana A. Gupta, Abdel-Karim Al-Qudah, Wafaa M. Eyaid, Jan M. Friedman, Mustafa A. Salih, Robin Clark, Isabella Moroni, Marina Mora, Alan H. Beggs, Stacey B. Gabriel, Christopher A. Walsh
The American Journal of Human Genetics, September 2012, Elsevier
DOI: 10.1016/j.ajhg.2012.07.009