Brahim Tabarki
Riyadh Armed Forces Hospital(SA)University of Sousse(TN)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases, Mitochondrial Function and Pathology
Most-Cited Works
- → Inflammatory cytokines in the pathogenesis of periventricular leukomalacia(2001)398 cited
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → A gene encoding a putative FAD-dependent l -2-hydroxyglutarate dehydrogenase is mutated in l -2-hydroxyglutaric aciduria(2004)193 cited
- → Expanding the genetic heterogeneity of intellectual disability(2017)176 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