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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2018
Autozygome and high throughput confirmation of disease genes candidacySateesh Maddirevula, Fatema Alzahrani, Mohammed Al-Owain, et al.Brain : a Journal of Neurology|February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagySusan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.Cell Reports|January 6, 2015
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous familiesAnas M Alazami, Nisha Patel, Hanan E Shamseldin, et al.Epilepsia|January 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variantsSebastian Ortiz, Leonardo Affronte, Chiara Bagliani, et al.Nature Communications|February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 11, 2026
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder EffectKhadijah Bakur, Bader Alhaddad, Ali Balubaid, 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.Pageof 9