Mais Hashem
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, RNA Research and Splicing, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus(2011)469 cited
- → Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes(2012)280 cited
- → Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited
- → Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes(2012)181 cited
- → Expanding the genetic heterogeneity of intellectual disability(2017)176 cited
- → The genetic landscape of familial congenital hydrocephalus(2017)146 cited
- → IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome(2014)141 cited
- → Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome(2018)140 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
- → Mutations in LRPAP1 Are Associated with Severe Myopia in Humans(2013)128 cited