Saeed Al-Turki
United Arab Emirates University(AE)Saudi Aramco (Saudi Arabia)(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases, Genomics and Phylogenetic Studies, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport(2016)259 cited
- → An organelle-specific protein landscape identifies novel diseases and molecular mechanisms(2016)255 cited
- → Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing(2018)174 cited
- → X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3(2017)151 cited
- → Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis(2013)141 cited
- → Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy(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
- → Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations(2014)89 cited
- → TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport(2015)81 cited
- → Loss of PCLO function underlies pontocerebellar hypoplasia type III(2015)67 cited