Ben-Omran, Tawfeg

Publications

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selected publications

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. Journal of medical genetics. 2020 Academic Article GET IT
Times cited: 3
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: 17
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: 14
Clinical genetics and genomic medicine in Qatar. Molecular genetics & genomic medicine. 2018 Academic Article GET IT
Times cited: 7
Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome. Clinical genetics. 2017 Academic Article GET IT
Times cited: 2
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. 2017 GET IT
Times cited: 19
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Annals of neurology. 2017 Academic Article GET IT
Times cited: 54
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. 2016 GET IT
Times cited: 27
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Molecular vision. 2016 Academic Article GET IT
Times cited: 6
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: 56
W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report. 2016 GET IT
Times cited: 23
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: 42
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Human genetics. 2015 Academic Article GET IT
Times cited: 137
Secondary NAD+ deficiency in the inherited defect of glutamine synthetase. Journal of inherited metabolic disease. 2015 Academic Article GET IT
Times cited: 16
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. Journal of medical genetics. 2015 Academic Article GET IT
Times cited: 29
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess. 2015 GET IT
Times cited: 8
Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder. 2014 GET IT
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. 2014 GET IT
Times cited: 14
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: 58
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. 2013 GET IT
Times cited: 12
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: 106
Using whole-exome sequencing to identify inherited causes of autism. 2013 GET IT
Times cited: 327
Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance. 2012 GET IT
Times cited: 36
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. 2011 GET IT
Times cited: 22
A series of pregnancies in women with inherited metabolic disease. 2011 GET IT
Times cited: 52
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
Natural course of glutamine synthetase deficiency in a 3 year old patient. 2011 GET IT
Times cited: 40
Further delineation of the Van den Ende-Gupta syndrome. 2010 GET IT
Times cited: 8
Neonatal severe hyperparathyroidism: further clinical and molecular delineation. 2010 GET IT
Times cited: 16
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. American journal of human genetics. 2010 Academic Article GET IT
Times cited: 46
New subtype of familial intracranial calcification in a mother and two children. 2010 GET IT
Times cited: 6
Autosomal recessive inheritance of GLUT1 deficiency syndrome. 2010 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: 78
Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?. Journal of neurology. 2009 Letter 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: 81

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Background

education and training

M.D., Derna University Faculty of Medicine (Libya) 2000
M.B.,B.Ch., Al Arab Medical University (Libya) 1995

Contact

full name

Tawfeg Ben-Omran

primary email

tab2011@qatar-med.cornell.edu

VIVO Weill Cornell Medical College

Tawfeg Ben-Omran Professor of Clinical Pediatrics

Publications

selected publications

Background

education and training

Contact

full name

primary email