Shamsa Anazi
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Retinal Development and Disorders, Epilepsy research and treatment
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes(2012)280 cited
- → An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes(2015)245 cited
- → Mutations in LRPAP1 Are Associated with Severe Myopia in Humans(2013)128 cited
- → Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies(2015)109 cited
- → Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort(2015)66 cited
- → Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation(2013)50 cited
- → Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype(2013)47 cited
- → The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population(2014)25 cited
- → Confirming the candidacy ofTHOC6in the etiology of intellectual disability(2016)18 cited