List of works - Tawfeg Ben-Omran

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

scientific article published on 18 February 2019

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

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families

scientific article published on 28 August 2020

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

scientific article published on 10 July 2019

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

Autozygome and high throughput confirmation of disease genes candidacy

scientific article published on 21 September 2018

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

scientific article published on 21 May 2020

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

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

scientific article published in Nature Communications

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

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

scientific article published on 14 November 2020

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

article

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

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

scientific article published on 24 May 2017

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

scientific article published on 27 March 2019

Clinical genetics and genomic medicine in Qatar

article

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

scientific article published on 26 June 2014

Correction to: Expanding the genetic heterogeneity of intellectual disability.

scientific article published on 29 December 2017

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

scientific article published on October 2015

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

scientific article

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

article

Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar

scientific article published on 02 December 2019

Exome sequencing can improve diagnosis and alter patient management

scientific article published on June 2012

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Expanding the genetic heterogeneity of intellectual disability

scientific article published on 22 September 2017

Further delineation of HIDEA syndrome

scientific article published on 23 September 2020

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

scientific article published on 01 May 2015

GWAS signals revisited using human knockouts

scientific article published on 22 June 2017

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

scientific article published on 27 August 2019

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

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

scientific article published on 31 March 2016

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

scientific article published on 16 June 2015

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

scientific article published on 16 August 2017

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

scientific article published on 12 October 2017

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

scientific article published on 27 February 2017

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

scientific article published on December 2016

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

article

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

scientific article

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.

scientific article published on 22 May 2015

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

scientific article published on December 2014

Molecular autopsy in maternal-fetal medicine

scientific article published on 27 July 2017

Molecular neonatal screening for homocystinuria in the Qatari population

scientific article published on 01 June 2009

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

scientific article published on 18 November 2016

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

scientific article

Mutations in CSPP1 lead to classical Joubert syndrome

scientific article

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

scientific article published on 07 September 2016

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

scientific article published on October 8, 2010

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

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

scientific article published on 04 February 2011

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

scientific article published on 08 May 2019

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

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

article

Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar

scientific article published on 01 December 2019

Secondary NAD+ deficiency in the inherited defect of glutamine synthetase

scientific article published on 21 April 2015

Using whole-exome sequencing to identify inherited causes of autism

scientific article

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

scientific article

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

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

scientific article

List of works by Tawfeg Ben-Omran

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

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

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families

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

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

Autozygome and high throughput confirmation of disease genes candidacy

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

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

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

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

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

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

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

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

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

Clinical genetics and genomic medicine in Qatar

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

Correction to: Expanding the genetic heterogeneity of intellectual disability.

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

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

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

Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar

Exome sequencing can improve diagnosis and alter patient management

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Expanding the genetic heterogeneity of intellectual disability

Further delineation of HIDEA syndrome

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

GWAS signals revisited using human knockouts

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

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

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

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

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

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

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

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

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

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

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.

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

Molecular autopsy in maternal-fetal medicine

Molecular neonatal screening for homocystinuria in the Qatari population

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

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

Mutations in CSPP1 lead to classical Joubert syndrome

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

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

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

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

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

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

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

Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar

Secondary NAD+ deficiency in the inherited defect of glutamine synthetase

Using whole-exome sequencing to identify inherited causes of autism

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

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

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