Does exome sequencing in mostly consanguineous Arab families with neurologic disease provide a high potential molecular diagnosis rate?
Molecular diagnostic rate from WES is improved by exome-predicted CNVs. Novel candidate disease gene discovery is facilitated by paralog studies and through the use of informatics tools and available databases to identify additional evidence for pathogenicity.
An important direction for pediatric surgeons and their interdisciplinary teams may be to develop strategies to strengthen mothers' social relationships.