Hanan E. Shamseldin
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, RNA Research and Splicing
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia(2014)293 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
- → Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma(2011)207 cited
- → Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes(2012)181 cited
- → Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy(2013)177 cited
- → Expanding the genetic heterogeneity of intellectual disability(2017)176 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
- → Molecular autopsy in maternal–fetal medicine(2017)123 cited