Suad Alyamani
Alfaisal University(SA)King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Phosphodiesterase function and regulation, Neuroscience and Neuropharmacology Research
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans(2021)189 cited
- → Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII(2011)63 cited
- → GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition(2016)46 cited
- → Lethal variants in humans: lessons learned from a large molecular autopsy cohort(2021)29 cited
- → Epilepsy Surgery Series: A Study of 502 Consecutive Patients from a Developing Country(2014)20 cited
- → Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study(2018)19 cited
- → Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep in Saudi Arabia: Electroclinical, etiologic, genetic, and outcome multicenter study(2023)10 cited
- → Further clinical delineation of microcephaly‐capillary malformation syndrome(2022)5 cited
- → Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features(2023)4 cited