Tariq Faquih
King Abdulaziz City for Science and Technology(SA)King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genomics and Rare Diseases, Algal biology and biofuel production, Genomic variations and chromosomal abnormalities, Hereditary Neurological Disorders
Most-Cited Works
- → Characterizing the morbid genome of ciliopathies(2016)162 cited
- → Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases(2016)115 cited
- → Revisiting the morbid genome of Mendelian disorders(2016)54 cited
- → Genetic investigation of 93 families with microphthalmia or posterior microphthalmos(2018)49 cited
- → Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease(2019)48 cited
- → Genetic profiling of children with advanced cholestatic liver disease(2016)45 cited
- → A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies(2016)38 cited
- → Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel(2016)33 cited
- → Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families(2016)25 cited
- → Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection(2018)10 cited