Saeed Al Tala
Armed Forces Hospital(SA)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genomics and Rare Diseases, Algal biology and biofuel production, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → 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
- → Expanding the genetic heterogeneity of intellectual disability(2017)176 cited
- → Characterizing the morbid genome of ciliopathies(2016)162 cited
- → Molecular autopsy in maternal–fetal medicine(2017)123 cited
- → Genomic and phenotypic delineation of congenital microcephaly(2018)120 cited
- → Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism(2017)111 cited
- → Expanding the phenome and variome of skeletal dysplasia(2018)70 cited
- → The landscape of early infantile epileptic encephalopathy in a consanguineous population(2019)65 cited
- → Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia(2021)48 cited