Mariam AlMulla
Abu Dhabi Health Services(AE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Folate and B Vitamins Research, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders(2015)189 cited
- → Premarital screening and genetic counseling program: Studies from an endogamous population(2019)61 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
- → Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis(2020)34 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
- → Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis(2020)1 cited