Muddathir H. Hamad
King Saud Medical City(SA)King Saud University(SA)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population(2019)279 cited
- → Genomic and phenotypic delineation of congenital microcephaly(2018)120 cited
- → Expanding the phenome and variome of skeletal dysplasia(2018)70 cited
- → 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 diseases(2019)70 cited
- → Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy(2016)52 cited
- → Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy(2017)45 cited
- → Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia(2020)44 cited
- Idiopathic intracranial hypertension in children: Diagnostic and management approach.(2016)