Tarfa Al‐Sheddi
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
RNA modifications and cancer, RNA Research and Splicing, Molecular Biology Techniques and Applications, Genetic and Kidney Cyst Diseases, RNA regulation and disease
Most-Cited Works
- → Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes(2012)181 cited
- → The genetic landscape of familial congenital hydrocephalus(2017)146 cited
- → Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome(2011)139 cited
- → Genomic and phenotypic delineation of congenital microcephaly(2018)120 cited
- → Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay(2013)120 cited
- → ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder(2014)99 cited
- → Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics(2020)97 cited
- → PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly(2019)89 cited
- → POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism(2012)83 cited
- → Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism(2012)83 cited