Maha Alotaibi
King Saud bin Abdulaziz University for Health Sciences(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, Cardiac Health and Mental Health, Genomic variations and chromosomal abnormalities, Mitochondrial Function and Pathology
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population(2019)279 cited
- → Autozygome and high throughput confirmation of disease genes candidacy(2018)116 cited
- → Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families(2019)31 cited
- → Expanding the phenotype of SLC25A42‐associated mitochondrial encephalomyopathy(2018)29 cited
- → A de novo variant of CHD8 in a patient with autism spectrum disorder(2020)22 cited
- → Replacing protein via enteral nutrition in a stepwise approach in critically ill patients: the REPLENISH randomized clinical trial protocol(2023)13 cited
- → Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient(2022)13 cited
- → Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities(2018)12 cited
- → Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy(2020)10 cited