List of works - Barry A Chioza

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

scientific article published on October 2016

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

scientific article published on 10 November 2015

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

scientific article published on 03 January 2017

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

scientific article published on 17 November 2016

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

scientific article published on 25 May 2015

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

scientific article published on 08 January 2019

CACNA1A and P/Q-type calcium channels in epilepsy

scientific article published in The Lancet

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

scientific article published in November 2017

Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

scientific article published in November 1997

Defective mitochondrial mRNA maturation is associated with spastic ataxia

scientific article

Defective presynaptic choline transport underlies hereditary motor neuropathy.

scientific article

Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

scientific article

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

scientific article published on 01 February 1999

Evaluation of CACNA1H in European patients with childhood absence epilepsy

scientific article

Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor ?4 subunit (CHRNA4) and IGE

article

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

scientific article published on 29 June 2016

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

scientific article published on 28 February 2008

GermlineCBLmutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

article

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

scientific article published on 03 June 2019

Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy

article

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

scientific article

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

scientific article published on 20 February 2018

Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing

article

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

article

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

scientific article published on 14 May 2008

Loss of PCLO function underlies pontocerebellar hypoplasia type III

scientific article

MNS1 variant associated with situs inversus and male infertility

scientific article published on 18 September 2019

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

scientific article published on 29 August 2018

Mutation of HERC2 causes developmental delay with Angelman-like features.

scientific article

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

scientific article published on 07 October 2013

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

scientific article

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures

scientific journal article

Mutations in all five exons ofSOD-1 may cause ALS

scientific article published on 01 March 1998

No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study

article

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

scientific article published on 5 August 2016

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

scientific article

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

scientific article

Raine syndrome: an overview.

scientific article published on 12 July 2014

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

scientific article published on 01 December 1998

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

scientific article published on 11 June 2015

SLITRK6 mutations cause myopia and deafness in humans and mice

scientific article

Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes

scientific article published in December 2002

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

scientific article

List of works by Barry A Chioza

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

CACNA1A and P/Q-type calcium channels in epilepsy

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

Defective mitochondrial mRNA maturation is associated with spastic ataxia

Defective presynaptic choline transport underlies hereditary motor neuropathy.

Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

Evaluation of CACNA1H in European patients with childhood absence epilepsy

Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor ?4 subunit (CHRNA4) and IGE

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

GermlineCBLmutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

Loss of PCLO function underlies pontocerebellar hypoplasia type III

MNS1 variant associated with situs inversus and male infertility

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Mutation of HERC2 causes developmental delay with Angelman-like features.

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures

Mutations in all five exons ofSOD-1 may cause ALS

No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Raine syndrome: an overview.

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

SLITRK6 mutations cause myopia and deafness in humans and mice

Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.