Saad AlShahwan
Riyadh Armed Forces Hospital(SA)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetics and Neurodevelopmental Disorders, Algal biology and biofuel production, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase(2008)191 cited
- → Characterizing the morbid genome of ciliopathies(2016)162 cited
- → Genomic and phenotypic delineation of congenital microcephaly(2018)120 cited
- → Autozygome and high throughput confirmation of disease genes candidacy(2018)116 cited
- → Biotin-responsive basal ganglia disease revisited(2012)106 cited
- → A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield(2017)90 cited
- → Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone(2015)56 cited
- → Hemisomatic spasms in children(1994)44 cited