Aziza Chedrawi
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Epilepsy research and treatment, Pharmacological Effects and Toxicity Studies
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
- → Autozygome and high throughput confirmation of disease genes candidacy(2018)116 cited
- → Loss of the Potassium Channel β‐Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome(2001)92 cited
- → A novel X‐linked disorder with developmental delay and autistic features(2011)74 cited
- → Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders(2008)57 cited
- → Neck-tongue syndrome(2000)37 cited
- → Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition(2022)33 cited
- → Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C > T(2013)32 cited