Amna Othman
National Institutes of Health(US)National Human Genome Research Institute(US)
Publications by Year
Research Areas
RNA modifications and cancer, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research, Topic Modeling
Most-Cited Works
- → Gene therapy for spinal muscular atrophy: the Qatari experience(2021)52 cited
- → Disorders of histone methylation: Molecular basis and clinical syndromes(2022)25 cited
- → Clinical genetics and genomic medicine in Qatar(2018)24 cited
- → A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families(2020)17 cited
- → Expanding on the phenotypic spectrum ofWoodhouse‐Sakatisyndrome due to founder pathogenic variant inDCAF17: Report of 58 additional patients from Qatar and literature review(2021)15 cited
- → Assessing large language model performance related to aging in genetic conditions(2025)2 cited
- → New Phenotypic Features in FGFR1‐Related Osteoglophonic Dysplasia(2025)