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: 6
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: 63
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: 24
Clinical genetics and genomic medicine in Qatar. Molecular genetics & genomic medicine. 2018 Academic Article GET IT
Times cited: 19
Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome. Clinical genetics. 2017 Academic Article GET IT
Times cited: 4
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. European journal of medical genetics. 2017 Article GET IT
Times cited: 28
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Annals of neurology. 2017 Academic Article GET IT
Times cited: 77
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. American journal of human genetics. 2016 Article GET IT
Times cited: 38
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Molecular vision. 2016 Academic Article GET IT
Times cited: 18
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: 78
W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report. BMC medical genetics. 2016 Article GET IT
Times cited: 27
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: 62
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Human genetics. 2015 Academic Article GET IT
Times cited: 168
Secondary NAD+ deficiency in the inherited defect of glutamine synthetase. Journal of inherited metabolic disease. 2015 Academic Article GET IT
Times cited: 19
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. Journal of medical genetics. 2015 Academic Article GET IT
Times cited: 38
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess. Annals of thoracic medicine. 2015 Article GET IT
Times cited: 9
Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder. American journal of medical genetics. Part A. 2014 Article GET IT
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. Orphanet journal of rare diseases. 2014 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: 83
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. JAMA neurology. 2013 Article 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: 122
Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Article GET IT
Times cited: 374
Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance. Orphanet journal of rare diseases. 2012 Article GET IT
Times cited: 45
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. American journal of medical genetics. Part A. 2011 Article GET IT
Times cited: 25
A series of pregnancies in women with inherited metabolic disease. Journal of inherited metabolic disease. 2011 Article GET IT
Times cited: 63
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: 10
Natural course of glutamine synthetase deficiency in a 3 year old patient. Molecular genetics and metabolism. 2011 Article GET IT
Times cited: 53
Further delineation of the Van den Ende-Gupta syndrome. American journal of medical genetics. Part A. 2010 Article GET IT
Times cited: 8
Neonatal severe hyperparathyroidism: further clinical and molecular delineation. European journal of pediatrics. 2010 Article GET IT
Times cited: 18
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. American journal of human genetics. 2010 Academic Article GET IT
Times cited: 56
New subtype of familial intracranial calcification in a mother and two children. American journal of medical genetics. Part A. 2010 Article GET IT
Times cited: 6
Autosomal recessive inheritance of GLUT1 deficiency syndrome. Neuropediatrics. 2010 Article GET IT
Times cited: 62
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: 89
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: 91

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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