Wendy Buijsman

A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Christian Gilissen, Ilse Feenstra, Nienke Wieskamp, 2013, Human mutation.

Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

B. P. Warrenburg, H. Scheffer, H. Kremer, 2013, Journal of Neurology.

Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome: A New Mutation in the TFAP2A Gene

C. Cremers, J. Cruysberg, N. Knoers, 2010, The Annals of otology, rhinology, and laryngology.