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Fowzan S. Alkuraya | doi.page

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Fowzan S. Alkuraya

Alfaisal University(SA)King Faisal Specialist Hospital & Research Centre(SA)

Publications by Year

Research Areas

Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Genetic and Kidney Cyst Diseases

Most-Cited Works

→ Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus(2011)469 cited
→ Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
→ International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases(2017)444 cited
→ Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery(2016)386 cited
→ The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
→ New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism(2012)318 cited
→

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

(2014)

293 cited

→ Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes(2012)280 cited

→ Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome(2011)257 cited

→ Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited