Ben-Omran, Tawfeg

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Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. Journal of medical genetics. 2020 Academic Article GET IT
Times cited: 1
Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar. Molecular genetics & genomic medicine. 2019 Academic Article GET IT
Times cited: 35
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population. Journal of inherited metabolic disease. 2019 Academic Article GET IT
Times cited: 5
Clinical genetics and genomic medicine in Qatar. Molecular genetics & genomic medicine. 2018 Academic Article GET IT
Times cited: 14
Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome. Clinical genetics. 2017 Academic Article GET IT
Times cited: 1
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Annals of neurology. 2017 Academic Article GET IT
Times cited: 35
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Molecular vision. 2016 Academic Article GET IT
Times cited: 12
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. American journal of human genetics. 2016 Academic Article GET IT
Times cited: 68
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. American journal of human genetics. 2016 Academic Article GET IT
Times cited: 53
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Human genetics. 2015 Academic Article GET IT
Times cited: 107
Secondary NAD+ deficiency in the inherited defect of glutamine synthetase. Journal of inherited metabolic disease. 2015 Academic Article GET IT
Times cited: 10
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. Journal of medical genetics. 2015 Academic Article GET IT
Times cited: 18
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. European journal of human genetics : EJHG. 2014 Academic Article GET IT
Times cited: 67
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. American journal of human genetics. 2013 Academic Article GET IT
Times cited: 115
Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population. Journal of child neurology. 2011 Academic Article GET IT
Times cited: 9
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. American journal of human genetics. 2010 Academic Article GET IT
Times cited: 49
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. The Journal of pediatrics. 2009 Academic Article GET IT
Times cited: 68
Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?. Journal of neurology. 2009 Article GET IT
Times cited: 1
Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. European journal of endocrinology. 2009 Academic Article GET IT
Times cited: 88