Tawfeg Ben‐Omran
Qatar Airways (Qatar)(QA)Sidra Medical and Research Center(QA)Weill Cornell Medical College in Qatar(QA)Hamad Medical Corporation(QA)Qatar University(QA)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research, Folate and B Vitamins Research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study(2019)612 cited
- → Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders(2014)537 cited
- → Using Whole-Exome Sequencing to Identify Inherited Causes of Autism(2013)457 cited
- → Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency(2016)324 cited
- → Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy(2012)310 cited
- → Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria(2013)139 cited