Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Manzini, Chiara, Dimira Tambunan, Sean Hill, Tim Yu, Thomas Maynard, Erin Heinzen, Kevin Shianna, et al. 2012. “Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations As a Cause of Walker-Warburg Syndrome.”. Am J Hum Genet 91 (3): 541-7.