Mais Hashem
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Neurological diseases and metabolism, Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases, Skin and Cellular Biology Research, Oropharyngeal Anatomy and Pathologies
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → Characterizing the morbid genome of ciliopathies(2016)162 cited
- → The morbid genome of ciliopathies: an update(2020)103 cited
- → Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice(2016)69 cited
- → Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans(2019)29 cited
- → PLXNA2 as a candidate gene in patients with intellectual disability(2021)11 cited
- → Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity(2012)11 cited
- → SLK is mutated in individuals with a neurodevelopmental disorder(2025)2 cited
- → Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility(2026)
- → Additional file 4: Table S2. of Characterizing the morbid genome of ciliopathies(2016)