Karen El‐Akouri
Qatar Airways (Qatar)(QA)Rambam Health Care Campus(IL)Sidra Medical and Research Center(QA)Hamad Medical Corporation(QA)
Publications by Year
Research Areas
Genomics and Rare Diseases, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, Folate and B Vitamins Research, Prenatal Screening and Diagnostics
Most-Cited Works
- → Molecular autopsy in maternal–fetal medicine(2017)123 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
- → An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome(2022)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