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B. Chioza · SciRah

Researcher profile · Semantic Scholar

B. Chioza

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B. Chioza — researcher profile on SciRah

h-index: 31
Works: 89
Citations: 3,458

Most-cited papers

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.
A. Al-Chalabi, P. Andersen, P. Nilsson, B. Chioza +5 more
1999Human Molecular Genetics381 citations Open access
Semantic Scholar
Deficiency of terminal ADP‐ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease
Reza Sharifi, R. Morra, C. D. Appel, Michael Tallis +21 more
2013EMBO Journal311 citations Open access
Semantic Scholar
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
A. Al-Chalabi, Peter M. Andersen, B. Chioza, C. Shaw +12 more
1998Human Molecular Genetics177 citations
Semantic Scholar
Mutations in all five exons of SOD‐1 may cause ALS
C. Shaw, Z. Enayat, B. Chioza, A. Al-Chalabi +3 more
1998Annals of Neurology158 citations
Semantic Scholar
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of novel insertion mutation
M. Jackson, A. Al-Chalabi, Zinat E. Enayat, B. Chioza +2 more
1997Annals of Neurology140 citations
Semantic Scholar
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome
V. Alakbarzade, Abdul Hameed, D. Quek, B. Chioza +12 more
2015Nature Genetics139 citations
Semantic Scholar
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
G. Harlalka, A. Lehman, B. Chioza, E. Baple +19 more
2013Brain : a journal of neurology136 citations Open access
Semantic Scholar
DNA methylation signatures of Alzheimer’s disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types
Gemma Shireby, E. Dempster, Stefania Policicchio, Rebecca G. Smith +13 more
2022bioRxiv118 citations Open access
Semantic Scholar
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis
M. Ahmed, A. Al-Khayat, F. Al-Murshedi, A. AlFutaisi +17 more
2017Brain : a journal of neurology98 citations Open access
Semantic Scholar
Defective presynaptic choline transport underlies hereditary motor neuropathy.
K. Barwick, J. Wright, S. Al-Turki, M. McEntagart +10 more
2012American Journal of Human Genetics98 citations Open access
Semantic Scholar
07 Defective mitochondrial mRNA maturation is associated with spastic ataxia
Proukakis Christos, H. Patel, B. Chioza, K. A. Dick +6 more
2011Journal of Neurology Neurosurgery & Psychiatry98 citations
Semantic Scholar
Association between the α1a calcium channel gene CACNA1A and idiopathic generalized epilepsy
B. Chioza, H. Wilkie, L. Nashef, J. Blower +4 more
2001Neurology94 citations
Semantic Scholar
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
E. Baple, H. Chambers, Harold E. Cross, H. Fawcett +18 more
2014Journal of Clinical Investigation86 citations Open access
Semantic Scholar
Mutation of HERC2 causes developmental delay with Angelman-like features
G. Harlalka, E. Baple, H. Cross, Simone Kühnle +11 more
2012Journal of Medical Genetics83 citations
Semantic Scholar
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
M. Zollo, M. Ahmed, Veronica Ferrucci, V. Salpietro +43 more
2017Brain : a journal of neurology72 citations Open access
Semantic Scholar
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
R. N. Jinks, E. Puffenberger, E. Baple, B. Harding +26 more
2015Brain : a journal of neurology63 citations Open access
Semantic Scholar
Loss of PCLO function underlies pontocerebellar hypoplasia type III
M. Ahmed, B. Chioza, A. Rajab, K. Schmitz-Abe +14 more
2015Neurology61 citations Open access
Semantic Scholar
SLITRK6 mutations cause myopia and deafness in humans and mice.
Mustafa Tekin, B. Chioza, Yoshifumi Matsumoto, O. Díaz-Horta +21 more
2013Journal of Clinical Investigation60 citations Open access
Semantic Scholar
Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.
Kate V. Everett, B. Chioza, C. Georgoula, A. Reece +10 more
2008American Journal of Human Genetics55 citations Open access
Semantic Scholar
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
A. Jeffries, R. Maroofian, C. Salter, B. Chioza +22 more
2018bioRxiv52 citations Open access
Semantic Scholar
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
E. Baple, Reza Maroofian, B. Chioza, Maryam Izadi +15 more
2014American Journal of Human Genetics52 citations Open access
Semantic Scholar
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy.
Kate V. Everett, B. Chioza, J. Aicardi, H. Aschauer +19 more
2007Epilepsy Research52 citations Open access
Semantic Scholar
Biallelic PI4KA variants cause neurological, intestinal and immunological disease
C. Salter, Yi-Ying Cai, Bernice Lo, G. Helman +41 more
2021Brain : a journal of neurology50 citations Open access
Semantic Scholar
Linkage and association analysis of CACNG3 in childhood absence epilepsy
Kate V. Everett, B. Chioza, J. Aicardi, H. Aschauer +22 more
2007European Journal of Human Genetics48 citations Open access
Semantic Scholar
Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy.
B. Chioza, H. Wilkie, L. Nashef, J. Blower +4 more
2001Neurology46 citations
Semantic Scholar
Raine syndrome: an overview.
V. Faundes, S. Castillo-Taucher, P. González-Hormazábal, K. Chandler +2 more
2014European Journal of Medical Genetics44 citations
Semantic Scholar
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
Lin Li, Xiao-Dong Jiao, Ilaria D’Atri, Fumihito Ono +37 more
2018PLoS Genetics37 citations Open access
Semantic Scholar
Evaluation of CACNA1H in European patients with childhood absence epilepsy.
B. Chioza, Kate V. Everett, H. Aschauer, O. Brouwer +18 more
2006Epilepsy Research34 citations Open access
Semantic Scholar
Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes.
B. Chioza, A. Osei-Lah, H. Wilkie, L. Nashef +3 more
2002Epilepsy Research34 citations
Semantic Scholar
MNS1 variant associated with situs inversus and male infertility
Joseph S. Leslie, Lettie E. Rawlins, B. Chioza, Oluwaseun Olubodun +9 more
2019European Journal of Human Genetics33 citations Open access
Semantic Scholar
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24
Kate V. Everett, F. Capon, C. Georgoula, B. Chioza +6 more
2008European Journal of Human Genetics32 citations
Semantic Scholar
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
B. Chioza, J. Aicardi, H. Aschauer, O. Brouwer +19 more
2009Epilepsy Research31 citations Open access
Semantic Scholar
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Hai-Cui Wang, C. Salter, Osama Refai, Holly Hardy +20 more
2017Brain : a journal of neurology30 citations Open access
Semantic Scholar
Germline CBL mutation associated with a noonan‐like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23
H. Hanson, M. Wilson, J. Short, B. Chioza +4 more
2014American Journal of Medical Genetics. Part A30 citations
Semantic Scholar
Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy
B. Chioza, A. Osei-Lah, L. Nashef, B. Suárez-Merino +5 more
2002European Journal of Human Genetics30 citations
Semantic Scholar
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia
Lettie E. Rawlins, H. Jones, Olivia Wenger, M.K.K. Aye +8 more
2019European Journal of Human Genetics27 citations Open access
Semantic Scholar
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice
M. Muggenthaler, Biswajit Chowdhury, S. Hasan, H. Cross +20 more
2017PLoS Genetics26 citations Open access
Semantic Scholar
Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing
Kate V. Everett, B. Chioza, C. Georgoula, A. Reece +2 more
2009Human Genetics25 citations
Semantic Scholar
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia
G. Harlalka, Meriel E. Mcentagart, N. Gupta, A. Skrzypiec +17 more
2016Human Mutation24 citations Open access
Semantic Scholar
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
C. Salter, D. Beijer, Holly Hardy, K. Barwick +14 more
2018Neurology: Genetics23 citations Open access
Semantic Scholar
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder
M. Alves, Danny Halim, Reza Maroofian, B. de Graaf +10 more
2016European Journal of Human Genetics22 citations Open access
Semantic Scholar
No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study.
H. Goodwin, N. Curran, B. Chioza, J. Blower +3 more
2000Epilepsy Research22 citations
Semantic Scholar
Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families
O. Reish, M. Slatkin, D. Chapman‐Shimshoni, A. Elizur +3 more
2010Annals of Human Genetics20 citations Open access
Semantic Scholar
Quantifying the proportion of different cell types in the human cortex using DNA methylation profiles
E. Hannon, E. Dempster, Jonathan P. Davies, B. Chioza +8 more
2023bioRxiv19 citations Open access
Semantic Scholar
Association of μ-opioid receptor subunit gene and idiopathic generalized epilepsy
H. Wilkie, A. Osei-Lah, B. Chioza, L. Nashef +3 more
200218 citations
Semantic Scholar
CACNA1A and P/Q-type calcium channels in epilepsy.
B. Chioza, L. Nashef, P. Asherson, A. Makoff
2002The Lancet18 citations Open access
Semantic Scholar
Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE.
B. Chioza, H. Goodwin, J. Blower, D. McCormick +3 more
2000American journal of medical genetics14 citations
Semantic Scholar
Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families
M. Arshad, G. Harlalka, Si-Ying Lin, Ilaria D’Atri +15 more
2018Meta Gene13 citations Open access
Semantic Scholar
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel
S. Aharoni, K. Barwick, R. Straussberg, G. Harlalka +6 more
2016BMC Medical Genetics13 citations Open access
Semantic Scholar
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
Kate V. Everett, P. Ataliotis, B. Chioza, C. Shaw-Smith +1 more
2017Pediatric Research11 citations
Semantic Scholar

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