List of works - Tawfeg Ben-Omran

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Using whole-exome sequencing to identify inherited causes of autism

scientific article

Exome sequencing can improve diagnosis and alter patient management

scientific article published on June 2012

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

scientific article

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

scientific article published on December 2016

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

scientific article

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

scientific article published on 16 June 2015

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

scientific article

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

scientific article published on December 2014

Mutations in CSPP1 lead to classical Joubert syndrome

scientific article

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

scientific article published on October 8, 2010

Expanding the genetic heterogeneity of intellectual disability

scientific article published on 22 September 2017

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

scientific article published on 04 February 2011

Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

scientific article

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

scientific journal article

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

scientific article published on 18 November 2016

Molecular autopsy in maternal-fetal medicine

scientific article published on 27 July 2017

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

scientific article published on 07 September 2016

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

scientific article

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

scientific article published on 16 August 2017

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia

scientific article

Molecular neonatal screening for homocystinuria in the Qatari population

scientific article published on 01 June 2009

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

scientific article published on October 2015

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

article

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

scientific article published on 01 May 2015

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

scientific article published on 14 October 2016

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

scientific article published on 16 July 2018

Autozygome and high throughput confirmation of disease genes candidacy

scientific article published on 21 September 2018

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

scientific article published on 3 May 2018

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band‐like calcification and polymicrogyria that extends the phenotypic spectrum

scientific article published on March 25, 2014

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

scientific article published on 27 February 2017

Secondary NAD+ deficiency in the inherited defect of glutamine synthetase

scientific article published on April 21, 2015

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

scientific article published in Nature Communications

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family

scientific article published on 26 December 2012

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy

scientific article published on 22 May 2015

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

scientific article published on 31 March 2016

GWAS signals revisited using human knockouts

scientific article published on 22 June 2017

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

scientific article published on 27 March 2019

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

scientific article published on 06 February 2019

Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar

scientific article published on 13 December 2018

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders

scientific article published on October 12, 2017

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

scientific article published on 01 April 2010

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

scientific article

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

scientific article published on 18 February 2019

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

scientific article published on 24 May 2017

Clinical genetics and genomic medicine in Qatar

article

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

article

In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies

article

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin

article

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population

scientific article published on 08 May 2019

List of works by Tawfeg Ben-Omran

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Using whole-exome sequencing to identify inherited causes of autism

Exome sequencing can improve diagnosis and alter patient management

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

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

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

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

Mutations in CSPP1 lead to classical Joubert syndrome

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Expanding the genetic heterogeneity of intellectual disability

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

Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

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

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

Molecular autopsy in maternal-fetal medicine

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

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

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

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia

Molecular neonatal screening for homocystinuria in the Qatari population

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

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

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

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

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Autozygome and high throughput confirmation of disease genes candidacy

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band‐like calcification and polymicrogyria that extends the phenotypic spectrum

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

Secondary NAD+ deficiency in the inherited defect of glutamine synthetase

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy

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

GWAS signals revisited using human knockouts

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders

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

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

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

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

Clinical genetics and genomic medicine in Qatar

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

In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population