Exome Sequencing Can Improve Diagnosis and Alter Patient ManagementTracy Dixon‐Salazar, Joseph G. Gleeson, Jennifer L. Silhavy et al.|Science Translational Medicine|2012Cited by 258
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyüp Üçtepe, Ahmet Yeşilyurt, Barbara Vona et al.|European Journal of Human Genetics|2023Cited by 11
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National StudyDilek Çavuşoğlu, F.M. Sonmez, Faruk İncecik et al.|The Cerebellum|2024Cited by 8