Maha Alnemer
King Hussein Cancer Center(JO)King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Algal biology and biofuel production, Effects and risks of endocrine disrupting chemicals, Prenatal Screening and Diagnostics, Genomics and Rare Diseases
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Characterizing the morbid genome of ciliopathies(2016)162 cited
- → Molecular autopsy in maternal–fetal medicine(2017)123 cited
- → Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism(2017)111 cited
- → Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort(2015)66 cited
- → Identification of a novel MKS locus defined byTMEM107mutation(2015)41 cited
- → Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel(2016)33 cited
- → Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans(2020)31 cited
- → Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families(2019)31 cited
- → Lethal variants in humans: lessons learned from a large molecular autopsy cohort(2021)29 cited