Tabarki, Brahim M.

Top Publications

Top Publications Authored or Co-Authored by "Tabarki, Brahim M."

• A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

  Proceedings of the National Academy of Sciences of the United States of America, Volume 101, No. 48, Year 2004, Citations 179
• The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

  Human Genetics, Volume 136, No. 8, Year 2017, Citations 100
• Genomic and phenotypic delineation of congenital microcephaly

  Genetics in Medicine, Volume 21, No. 3, Year 2019, Citations 81
• Autozygome and high throughput confirmation of disease genes candidacy

  Genetics in Medicine, Volume 21, No. 3, Year 2019, Citations 78
• Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

  Neurology, Volume 61, No. 4, Year 2003, Citations 74