Nouriya Al‐Sannaa
Saudi Aramco Medical Services Organization(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Metabolism and Genetic Disorders, Lysosomal Storage Disorders Research, 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
- → Clinical exome sequencing: results from 2819 samples reflecting 1000 families(2016)366 cited
- → Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008(2010)135 cited
- → Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort(2020)120 cited
- → Chondroectodermal Dysplasia –The Ellis‐van Creveld Syndrome(2001)116 cited
- → Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization(2012)91 cited
- → Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships(2015)80 cited
- → AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability(2017)76 cited
- → Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome(2004)72 cited
- → SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling(2020)65 cited