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Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
American Journal of Human Genetics|May 28, 2019
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous PopulationDorota Monies, Mohammed Abouelhoda, Mirna Assoum, et al.
Human Genetics|June 11, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesDorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, et al.
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