Fatma Al‐Mesaifri
Hamad Medical Corporation(QA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Hereditary Neurological Disorders, Neurogenetic and Muscular Disorders Research, Folate and B Vitamins Research
Most-Cited Works
- → High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders(2015)189 cited
- → Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience(2019)54 cited
- → Gene therapy for spinal muscular atrophy: the Qatari experience(2021)52 cited
- → Clinical genetics and genomic medicine in Qatar(2018)24 cited
- → Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population(2019)21 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
- High diagnostic yield of clinical exome sequencing in Middle updated version(2015)
- High diagnostic yield of clinical exome sequencing in Middle(2015)
- → P03.06: Prenatal diagnosis of congenital ichthyosis: lessons learned!(2016)