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TITLE

Whole-exome sequencing identifies novel candidate genes for neurological disorders


ABSTRACT

¡¡¡¡Novel and robust statistical method using WES was developed for rare disease gene discovery and applied to several neurological diseases. SMAD6 explains ~7% of the craniosynostosis patients. Ephrin signaling pathway is associated with VOGM. Regulators of neural stem cell fate play a major role in CH pathogenesis.