Tawfeg Ben-Omran

Tawfeg Ben-Omran

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Tawfeg Ben-Omran

Tawfeg Ben-Omran

Publications by authors named "Tawfeg Ben-Omran"

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Analysis of the Qatari R336C cystathionine β-synthase protein in mice.

J Inherit Metab Dis 2019 Sep 10;42(5):831-838. Epub 2019 Jul 10.

Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/jimd.12140DOI Listing
September 2019

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Pediatr Neurol 2019 Jul 18;96:40-47. Epub 2019 Feb 18.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.008DOI Listing
July 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Cancer genetics program: Follow-up on clinical genetics and genomic medicine in Qatar.

Mol Genet Genomic Med 2018 11 16;6(6):865-872. Epub 2018 Dec 16.

Department of Medical Oncology, National Center of Cancer Care and Research, Hamad Medical Corporation, Doha, Qatar.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.534
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http://dx.doi.org/10.1002/mgg3.534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305668PMC
November 2018

Analysis of in pediatric and adult glaucoma and other ocular phenotypes.

Mol Vis 2016 17;22:1229-1238. Epub 2016 Oct 17.

Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070572PMC
January 2018

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

Pediatr Neurol 2018 01 5;78:35-40. Epub 2017 Oct 5.

Department of Medical Genetics, King Faisal Specialist Hospital, and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.09.002DOI Listing
January 2018

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Am J Hum Genet 2017 Sep 17;101(3):441-450. Epub 2017 Aug 17.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590949PMC
September 2017

Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia.

Blood Cells Mol Dis 2017 06 24;65:73-77. Epub 2017 May 24.

Division of Clinical Genetics and Metabolic Disorders, Tawam Hospital, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2017.05.011DOI Listing
June 2017

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Eur J Med Genet 2017 May 27;60(5):245-249. Epub 2017 Feb 27.

Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569911PMC
May 2017

Newborn screening for remethylation disorders and vitamin B deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

World J Pediatr 2017 Apr 15;13(2):136-143. Epub 2017 Jan 15.

University of Heidelberg, Center for Pediatric and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s12519-017-0003-zDOI Listing
April 2017

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Am J Hum Genet 2016 Nov 20;99(5):1181-1189. Epub 2016 Oct 20.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097947PMC
November 2016

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Am J Hum Genet 2016 Oct 8;99(4):912-916. Epub 2016 Sep 8.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2016.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065650PMC
October 2016

W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.

BMC Med Genet 2016 Aug 5;17(1):53. Epub 2016 Aug 5.

Department of Pediatric, Clinical and Metabolic Genetic, Hamad Medical Corporation, Doha, State of Qatar.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-016-0317-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975905PMC
August 2016

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

Am J Hum Genet 2016 Apr 24;98(4):643-52. Epub 2016 Mar 24.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833216PMC
April 2016

Guidelines for acute management of hyperammonemia in the Middle East region.

Ther Clin Risk Manag 2016 31;12:479-87. Epub 2016 Mar 31.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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http://dx.doi.org/10.2147/TCRM.S93144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820220PMC
April 2016

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

Hum Mol Genet 2015 Dec 12;24(25):7339-48. Epub 2015 Oct 12.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam 1081 HV, The Netherlands and

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http://dx.doi.org/10.1093/hmg/ddv431DOI Listing
December 2015

Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.

J Inherit Metab Dis 2015 Nov 21;38(6):1075-83. Epub 2015 Apr 21.

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, 8032, Switzerland.

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http://dx.doi.org/10.1007/s10545-015-9846-4DOI Listing
November 2015

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.

Am J Med Genet A 2015 Oct 22;167A(10):2478-80. Epub 2015 May 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37175DOI Listing
October 2015

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Hum Genet 2015 Sep 16;134(9):967-80. Epub 2015 Jun 16.

Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, P.O.BOX. 3050, Doha, Qatar.

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http://dx.doi.org/10.1007/s00439-015-1575-0DOI Listing
September 2015

Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.

JIMD Rep 2015 25;21:89-95. Epub 2015 Feb 25.

Children Rehabilitation, Department of Pediatrics, Hamad Medical Corporation, 3050, Doha, Qatar,

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http://dx.doi.org/10.1007/8904_2014_394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470953PMC
June 2015

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

J Med Genet 2015 Jun 14;52(6):381-90. Epub 2015 Apr 14.

Department of Cell & Systems Biology, University of Toronto, Toronto, Ontario, Canada Centre for the Analysis of Genome Evolution and Function, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2014-102707DOI Listing
June 2015

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.

Cell Rep 2015 Mar 5;10(9):1585-1598. Epub 2015 Mar 5.

Division of Molecular Neurobiology, National Institute for Basic Biology, Okazaki 444-8787, Japan; School of Life Science, The Graduate University for Advanced Studies (SOKENDAI), Okazaki 444-8787, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.02.011DOI Listing
March 2015

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Eur J Hum Genet 2015 Feb 30;23(2):202-9. Epub 2014 Apr 30.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.80
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http://dx.doi.org/10.1038/ejhg.2014.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297908PMC
February 2015

Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess.

Ann Thorac Med 2015 Jan-Mar;10(1):69-72

Nephrology Section, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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http://dx.doi.org/10.4103/1817-1737.146892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286850PMC
January 2015

Katanin p80 regulates human cortical development by limiting centriole and cilia number.

Neuron 2014 Dec;84(6):1240-57

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA; Harvard MD-PhD MSTP Program, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485387PMC
December 2014

Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.

Am J Med Genet A 2014 Sep 26;164A(9):2147-52. Epub 2014 Jun 26.

Department of Pediatrics, Section of Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar.

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http://doi.wiley.com/10.1002/ajmg.a.36632
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http://dx.doi.org/10.1002/ajmg.a.36632DOI Listing
September 2014

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.

Orphanet J Rare Dis 2014 Jun 7;9:80. Epub 2014 Jun 7.

Qatar Biomedical Research Institute, Medical Genetics Center, 69 Lusail Street, West Bay Area, P,O, Box: 33123, Doha, Qatar.

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http://dx.doi.org/10.1186/1750-1172-9-80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4070100PMC
June 2014

Mutations in CSPP1 lead to classical Joubert syndrome.

Am J Hum Genet 2014 Jan 19;94(1):80-6. Epub 2013 Dec 19.

Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882909PMC
January 2014

A series of pregnancies in women with inherited metabolic disease.

J Inherit Metab Dis 2012 May 15;35(3):419-24. Epub 2011 Sep 15.

Centre for Lysosomal and Metabolic diseases, Departments of Internal Medicine and Pediatrics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9389-2DOI Listing
May 2012

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Am J Med Genet A 2011 Nov 30;155A(11):2647-53. Epub 2011 Sep 30.

Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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http://doi.wiley.com/10.1002/ajmg.a.34219
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http://dx.doi.org/10.1002/ajmg.a.34219DOI Listing
November 2011

Neonatal severe hyperparathyroidism: further clinical and molecular delineation.

Eur J Pediatr 2011 May 23;170(5):625-31. Epub 2010 Oct 23.

Section of Pediatric Endocrinology, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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http://dx.doi.org/10.1007/s00431-010-1335-zDOI Listing
May 2011

Natural course of glutamine synthetase deficiency in a 3 year old patient.

Mol Genet Metab 2011 May 4;103(1):89-91. Epub 2011 Feb 4.

University Children's Hospital Zurich, Division of Metabolism, 8032 Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2011.02.001DOI Listing
May 2011

Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.

J Child Neurol 2011 May 29;26(5):625-9. Epub 2011 Mar 29.

Molecular Genetics Laboratory, Hamad Medical Corporation, Doha, Qatar.

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http://dx.doi.org/10.1177/0883073810387298DOI Listing
May 2011

Further delineation of the Van den Ende-Gupta syndrome.

Am J Med Genet A 2010 Dec;152A(12):3095-100

Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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http://dx.doi.org/10.1002/ajmg.a.33725DOI Listing
December 2010

New subtype of familial intracranial calcification in a mother and two children.

Am J Med Genet A 2010 Apr;152A(4):943-6

Section of Pediatric Neurology, Department of Pediatrics, Hamad Medical Corporation and Weil-Cornell Medical College, Doha, Qatar.

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http://dx.doi.org/10.1002/ajmg.a.33360DOI Listing
April 2010

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.

Eur J Endocrinol 2009 Nov 18;161(5):731-5. Epub 2009 Aug 18.

Developmental Endocrinology Research Group, Molecular Genetics Unit, London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, and The Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.

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https://eje.bioscientifica.com/view/journals/eje/161/5/731.x
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http://dx.doi.org/10.1530/EJE-09-0615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761810PMC
November 2009

Late-onset cobalamin-C disorder: a challenging diagnosis.

Am J Med Genet A 2007 May;143A(9):979-84

Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.31671
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http://dx.doi.org/10.1002/ajmg.a.31671DOI Listing
May 2007

Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression.

Am J Med Genet B Neuropsychiatr Genet 2006 Apr;141B(3):214-9

Department of Laboratory Medicine and Pathology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/ajmg.b.30297DOI Listing
April 2006

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

Am J Med Genet A 2005 Sep;137A(3):283-7

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.30869
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http://dx.doi.org/10.1002/ajmg.a.30869DOI Listing
September 2005