Mohammed Al‐Owain
Alfaisal University(SA)King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I(2010)718 cited
- → Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus(2011)469 cited
- → 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
- → Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes(2012)280 cited
- → Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy(2012)279 cited