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
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