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Dr Barry Chioza

Research Fellow

8161

Medical School Building 

Research

Key publications | Publications by category | Publications by year

Publications by category


Journal articles

Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, et al (2017). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140(3), 547-554. Abstract.  Author URL.  Full text.
Everett KV, Ataliotis P, Chioza BA, Shaw-Smith C, Chung EMK (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. Pediatr Res, 81(4), 632-638. Abstract.  Author URL.
Muggenthaler MMA, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, et al (2017). Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet, 13(1). Abstract.  Author URL.  Full text.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, et al (2017). PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain, 140(4), 940-952. Abstract.  Author URL.  Full text.
Dehghan Tezerjani M, Maroofian R, Vahidi Mehrjardi MY, Chioza BA, Zamaninejad S, Kalantar SM, Nori-Shadkam M, Ghadimi H, Baple EL, Crosby AH, et al (2016). A novel mutation in the OFD1 gene in a family with oral-facial-digital syndrome type 1: a case report. Iranian Journal of Public Health, 45(10), 1359-1366. Abstract.
Vona B, Hofrichter MAH, Chioza BA, Crosby AH, Nanda I, Haaf T (2016). Genetic elucidation of nonsyndromic hearing loss in the high-throughput sequencing era. Monographs in Human Genetics, 20, 56-72. Abstract.
Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, et al (2016). Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. Eur J Hum Genet, 24(11), 1627-1629. Abstract.  Author URL.
Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, et al (2016). Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat, 37(11), 1157-1161. Abstract.  Author URL.
Aharoni S, Barwick KES, Harlalka GV, Straussberg R, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH, et al (2016). Novel homozygous missense mutation in GAN associated with Charcot-Marie-Toothdisease type 2 in a large consanguineousfamily from Israel. BMC Medical Genetics, 17, 18-18. Full text.
Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, et al (2015). A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations. BMC Med Genet, 16 Abstract.  Author URL.
Alakbarzade V, Hameed A, Quek DQY, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, et al (2015). A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nature Genetics, 47(7), 814-817. Abstract.
Alakbarzade V, Hameed A, Quek DQY, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, et al (2015). A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nat Genet, 47(7), 814-817. Abstract.  Author URL.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, et al (2015). Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology, 84(17), 1745-1750. Abstract.  Author URL.
Jinks RN, Puffenberger EG, Baple EL, Harding B, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, et al (2015). Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain Abstract.  Full text.
Hanson HL, Wilson MJ, Short JP, Chioza BA, Crosby AH, Nash RM, Marks KJ, Mansour S (2014). Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23. American Journal of Medical Genetics, Part A, 164(4), 1003-1009. Abstract.
Hanson HL, Wilson MJ, Short JP, Chioza BA, Crosby AH, Nash RM, Marks KJ, Mansour S (2014). Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23. Am J Med Genet A, 164A(4), 1003-1009. Abstract.  Author URL.
Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, et al (2014). Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest, 124(7), 3137-3146. Abstract.  Author URL.
Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, et al (2014). Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. Am J Hum Genet, 94(1), 87-94. Abstract.  Author URL.
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B (2014). Raine syndrome: an overview. European Journal of Medical Genetics, 57(9), 536-542. Abstract.
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B (2014). Raine syndrome: an overview. Eur J Med Genet, 57(9), 536-542. Abstract.  Author URL.
Sharifi R, Morra R, Appel CD, Tallis M, Chioza B, Jankevicius G, Simpson MA, Matic I, Ozkan E, Golia B, et al (2013). Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease. EMBO J, 32(9), 1225-1237. Abstract.  Author URL.
Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, et al (2013). Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet, 50(2), 65-73. Abstract.  Author URL.
Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross HE, Sreekantan-Nair A, Priestman C, Royle L, Kozak RP, et al (2013). Mutations in B4GALNT1 (GM2 Synthase) underlie a new disorder of ganglioside biosynthesis. Brain, 136(12), 3618-3624. Abstract.  Author URL.
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, et al (2013). SLITRK6 mutations cause myopia and deafness in humans and mice. Journal of Clinical Investigation, 123(5), 2094-2102.
Barwick KES, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, et al (2012). Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet, 91(6), 1103-1107. Abstract.  Author URL.
Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, et al (2010). Defective mitochondrial mRNA maturation is associated with spastic ataxia. American Journal Human Genetics, 87(5), 655-660. Abstract.  Author URL.
Reish O, Slatkin M, Chapman-Shimshoni D, Elizur A, Chioza B, Castleman V, Mitchison HM (2010). Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Ann Hum Genet, 74(2), 117-125. Abstract.  Author URL.
Chioza BA, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley JM, Dulac O, Durner M, Eeg-Olofsson O, et al (2009). Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy Res, 87(2-3), 247-255. Abstract.  Author URL.
Everett KV, Chioza BA, Georgoula C, Reece A, Gardiner RM, Chung EMK (2009). Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing. Hum Genet, 126(6), 819-831. Abstract.  Author URL.
Everett K, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Eeg-Olofsson O, Feucht M, et al (2008). Erratum: Linkage and association analysis of CACNG3 in childhood absence epilepsy (European Journal of Human Genetics (2007) vol. 15 (463-472) 10.1039/sj.ejhg.5201783). European Journal of Human Genetics, 16(5), 659-660.
Everett KV, Chioza BA, Georgoula C, Reece A, Capon F, Parker KA, Cord-Udy C, McKeigue P, Mitton S, Pierro A, et al (2008). Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23. Am J Hum Genet, 82(3), 756-762. Abstract.  Author URL.
Everett KV, Capon F, Georgoula C, Chioza BA, Reece A, Jaswon M, Pierro A, Puri P, Gardiner RM, Chung EM, et al (2008). Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24. Eur J Hum Genet, 16(9), 1151-1154. Abstract.  Author URL.
Everett KV, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Eeg-Olofsson O, Feucht M, et al (2007). Linkage and association analysis of CACNG3 in childhood absence epilepsy. Eur J Hum Genet, 15(4), 463-472. Abstract.  Author URL.
Everett K, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley J, Dulac O, Durner M, et al (2007). Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. Epilepsy Res, 75(2-3), 145-153. Abstract.  Author URL.
Chioza B, Everett K, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, et al (2006). Evaluation of CACNA1H in European patients with childhood absence epilepsy. Epilepsy Res, 69(2), 177-181. Abstract.  Author URL.
Wilkie H, Osei-Lah A, Chioza B, Nashef L, McCormick D, Asherson P, Makoff AJ (2002). Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy. Neurology, 59(5), 724-728. Abstract.  Author URL.
Chioza B, Nashef L, Asherson P, Makoff A (2002). CACNA1A and P/Q-type calcium channels in epilepsy. Lancet, 359(9302). Author URL.
Chioza B, Osei-Lah A, Nashef L, Suarez-Merino B, Wilkie H, Sham P, Knight J, Asherson P, Makoff AJ (2002). Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy. Eur J Hum Genet, 10(12), 857-864. Abstract.  Author URL.
Chioza B, Osei-Lah A, Wilkie H, Nashef L, McCormick D, Asherson P, Makoff AJ (2002). Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes. Epilepsy Res, 52(2), 107-116. Abstract.  Author URL.
Chioza B, Wilkie H, Nashef L, Blower J, McCormick D, Sham P, Asherson P, Makoff AJ (2001). Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology, 56(9), 1245-1246. Author URL.
Chioza BA, Ujfalusy A, Csiszar K, Leigh PN, Powell JF, Radunović A (2001). Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord, 2(2), 93-97. Abstract.  Author URL.
Chioza B, Goodwin H, Blower J, McCormick D, Nashef L, Asherson P, Makoff AJ (2000). Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE. Am J Med Genet, 96(6), 814-816. Abstract.  Author URL.
Goodwin H, Curran N, Chioza B, Blower J, Nashef L, Asherson P, Makoff AJ (2000). No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study. Epilepsy Res, 39(1), 27-31. Abstract.  Author URL.
Al-Chalabi A, Andersen PM, Nilsson P, Chioza B, Andersson JL, Russ C, Shaw CE, Powell JF, Leigh PN (1999). Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet, 8(2), 157-164. Abstract.  Author URL.
Shaw CE, Enayat ZE, Chioza BA, Al-Chalabi A, Radunovic A, Powell JF, Leigh PN (1998). Mutations in all five exons of SOD-1 may cause ALS. Ann Neurol, 43(3), 390-394. Abstract.  Author URL.
Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, Matthijs G, Camu W, Marklund SL, Forsgren L, et al (1998). Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum Mol Genet, 7(13), 2045-2050. Abstract.  Author URL.
Shaikh S, Collier D, Chioza B, Li T, Lui X, Kerwin R (1997). A linkage disequilibrium study of chromosome 4p16 and schizophrenia. Schizophrenia Research, 24(1-2), 53-53.
Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE (1997). Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol, 42(5), 803-807. Abstract.  Author URL.

Conferences

Muggenthaler M, Zahka K, Lever H, Desai M, Chioza BA, Cross H, Behr ER, Sharma S, Crosby AH (2015). Phenotypic variation of hypertrophic cardiomyopathy caused by the 3330+2T > G mutation in myosin binding protein-C in 303 Amish individuals.  Author URL.
Baple E, Cross H, Chioza B, Simpson M, Trembath R, McEntagart M, Patton M, Crosby A (2011). A founder mutation in the SAMHD1 gene identified in the Amish is associated with laryngeal involvement.  Author URL.

Publications by year


2017

Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, et al (2017). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140(3), 547-554. Abstract.  Author URL.  Full text.
Everett KV, Ataliotis P, Chioza BA, Shaw-Smith C, Chung EMK (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. Pediatr Res, 81(4), 632-638. Abstract.  Author URL.
Muggenthaler MMA, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, et al (2017). Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet, 13(1). Abstract.  Author URL.  Full text.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, et al (2017). PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain, 140(4), 940-952. Abstract.  Author URL.  Full text.

2016

Dehghan Tezerjani M, Maroofian R, Vahidi Mehrjardi MY, Chioza BA, Zamaninejad S, Kalantar SM, Nori-Shadkam M, Ghadimi H, Baple EL, Crosby AH, et al (2016). A novel mutation in the OFD1 gene in a family with oral-facial-digital syndrome type 1: a case report. Iranian Journal of Public Health, 45(10), 1359-1366. Abstract.
Vona B, Hofrichter MAH, Chioza BA, Crosby AH, Nanda I, Haaf T (2016). Genetic elucidation of nonsyndromic hearing loss in the high-throughput sequencing era. Monographs in Human Genetics, 20, 56-72. Abstract.
Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, et al (2016). Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. Eur J Hum Genet, 24(11), 1627-1629. Abstract.  Author URL.
Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, et al (2016). Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat, 37(11), 1157-1161. Abstract.  Author URL.
Aharoni S, Barwick KES, Harlalka GV, Straussberg R, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH, et al (2016). Novel homozygous missense mutation in GAN associated with Charcot-Marie-Toothdisease type 2 in a large consanguineousfamily from Israel. BMC Medical Genetics, 17, 18-18. Full text.

2015

Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, et al (2015). A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations. BMC Med Genet, 16 Abstract.  Author URL.
Alakbarzade V, Hameed A, Quek DQY, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, et al (2015). A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nature Genetics, 47(7), 814-817. Abstract.
Alakbarzade V, Hameed A, Quek DQY, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, et al (2015). A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nat Genet, 47(7), 814-817. Abstract.  Author URL.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, et al (2015). Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology, 84(17), 1745-1750. Abstract.  Author URL.
Muggenthaler M, Zahka K, Lever H, Desai M, Chioza BA, Cross H, Behr ER, Sharma S, Crosby AH (2015). Phenotypic variation of hypertrophic cardiomyopathy caused by the 3330+2T > G mutation in myosin binding protein-C in 303 Amish individuals.  Author URL.
Jinks RN, Puffenberger EG, Baple EL, Harding B, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, et al (2015). Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain Abstract.  Full text.

2014

Hanson HL, Wilson MJ, Short JP, Chioza BA, Crosby AH, Nash RM, Marks KJ, Mansour S (2014). Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23. American Journal of Medical Genetics, Part A, 164(4), 1003-1009. Abstract.
Hanson HL, Wilson MJ, Short JP, Chioza BA, Crosby AH, Nash RM, Marks KJ, Mansour S (2014). Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23. Am J Med Genet A, 164A(4), 1003-1009. Abstract.  Author URL.
Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, et al (2014). Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest, 124(7), 3137-3146. Abstract.  Author URL.
Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, et al (2014). Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. Am J Hum Genet, 94(1), 87-94. Abstract.  Author URL.
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B (2014). Raine syndrome: an overview. European Journal of Medical Genetics, 57(9), 536-542. Abstract.
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B (2014). Raine syndrome: an overview. Eur J Med Genet, 57(9), 536-542. Abstract.  Author URL.

2013

Sharifi R, Morra R, Appel CD, Tallis M, Chioza B, Jankevicius G, Simpson MA, Matic I, Ozkan E, Golia B, et al (2013). Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease. EMBO J, 32(9), 1225-1237. Abstract.  Author URL.
Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, et al (2013). Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet, 50(2), 65-73. Abstract.  Author URL.
Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross HE, Sreekantan-Nair A, Priestman C, Royle L, Kozak RP, et al (2013). Mutations in B4GALNT1 (GM2 Synthase) underlie a new disorder of ganglioside biosynthesis. Brain, 136(12), 3618-3624. Abstract.  Author URL.
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, et al (2013). SLITRK6 mutations cause myopia and deafness in humans and mice. Journal of Clinical Investigation, 123(5), 2094-2102.

2012

Barwick KES, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, et al (2012). Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet, 91(6), 1103-1107. Abstract.  Author URL.

2011

Baple E, Cross H, Chioza B, Simpson M, Trembath R, McEntagart M, Patton M, Crosby A (2011). A founder mutation in the SAMHD1 gene identified in the Amish is associated with laryngeal involvement.  Author URL.

2010

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, et al (2010). Defective mitochondrial mRNA maturation is associated with spastic ataxia. American Journal Human Genetics, 87(5), 655-660. Abstract.  Author URL.
Reish O, Slatkin M, Chapman-Shimshoni D, Elizur A, Chioza B, Castleman V, Mitchison HM (2010). Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Ann Hum Genet, 74(2), 117-125. Abstract.  Author URL.

2009

Chioza BA, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley JM, Dulac O, Durner M, Eeg-Olofsson O, et al (2009). Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy Res, 87(2-3), 247-255. Abstract.  Author URL.
Everett KV, Chioza BA, Georgoula C, Reece A, Gardiner RM, Chung EMK (2009). Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing. Hum Genet, 126(6), 819-831. Abstract.  Author URL.

2008

Everett K, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Eeg-Olofsson O, Feucht M, et al (2008). Erratum: Linkage and association analysis of CACNG3 in childhood absence epilepsy (European Journal of Human Genetics (2007) vol. 15 (463-472) 10.1039/sj.ejhg.5201783). European Journal of Human Genetics, 16(5), 659-660.
Everett KV, Chioza BA, Georgoula C, Reece A, Capon F, Parker KA, Cord-Udy C, McKeigue P, Mitton S, Pierro A, et al (2008). Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23. Am J Hum Genet, 82(3), 756-762. Abstract.  Author URL.
Everett KV, Capon F, Georgoula C, Chioza BA, Reece A, Jaswon M, Pierro A, Puri P, Gardiner RM, Chung EM, et al (2008). Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24. Eur J Hum Genet, 16(9), 1151-1154. Abstract.  Author URL.

2007

Everett KV, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Eeg-Olofsson O, Feucht M, et al (2007). Linkage and association analysis of CACNG3 in childhood absence epilepsy. Eur J Hum Genet, 15(4), 463-472. Abstract.  Author URL.
Everett K, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley J, Dulac O, Durner M, et al (2007). Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. Epilepsy Res, 75(2-3), 145-153. Abstract.  Author URL.

2006

Chioza B, Everett K, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, et al (2006). Evaluation of CACNA1H in European patients with childhood absence epilepsy. Epilepsy Res, 69(2), 177-181. Abstract.  Author URL.

2002

Wilkie H, Osei-Lah A, Chioza B, Nashef L, McCormick D, Asherson P, Makoff AJ (2002). Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy. Neurology, 59(5), 724-728. Abstract.  Author URL.
Chioza B, Nashef L, Asherson P, Makoff A (2002). CACNA1A and P/Q-type calcium channels in epilepsy. Lancet, 359(9302). Author URL.
Chioza B, Osei-Lah A, Nashef L, Suarez-Merino B, Wilkie H, Sham P, Knight J, Asherson P, Makoff AJ (2002). Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy. Eur J Hum Genet, 10(12), 857-864. Abstract.  Author URL.
Chioza B, Osei-Lah A, Wilkie H, Nashef L, McCormick D, Asherson P, Makoff AJ (2002). Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes. Epilepsy Res, 52(2), 107-116. Abstract.  Author URL.

2001

Chioza B, Wilkie H, Nashef L, Blower J, McCormick D, Sham P, Asherson P, Makoff AJ (2001). Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology, 56(9), 1245-1246. Author URL.
Chioza BA, Ujfalusy A, Csiszar K, Leigh PN, Powell JF, Radunović A (2001). Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord, 2(2), 93-97. Abstract.  Author URL.

2000

Chioza B, Goodwin H, Blower J, McCormick D, Nashef L, Asherson P, Makoff AJ (2000). Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE. Am J Med Genet, 96(6), 814-816. Abstract.  Author URL.
Goodwin H, Curran N, Chioza B, Blower J, Nashef L, Asherson P, Makoff AJ (2000). No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study. Epilepsy Res, 39(1), 27-31. Abstract.  Author URL.

1999

Al-Chalabi A, Andersen PM, Nilsson P, Chioza B, Andersson JL, Russ C, Shaw CE, Powell JF, Leigh PN (1999). Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet, 8(2), 157-164. Abstract.  Author URL.

1998

Shaw CE, Enayat ZE, Chioza BA, Al-Chalabi A, Radunovic A, Powell JF, Leigh PN (1998). Mutations in all five exons of SOD-1 may cause ALS. Ann Neurol, 43(3), 390-394. Abstract.  Author URL.
Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, Matthijs G, Camu W, Marklund SL, Forsgren L, et al (1998). Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum Mol Genet, 7(13), 2045-2050. Abstract.  Author URL.

1997

Shaikh S, Collier D, Chioza B, Li T, Lui X, Kerwin R (1997). A linkage disequilibrium study of chromosome 4p16 and schizophrenia. Schizophrenia Research, 24(1-2), 53-53.
Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE (1997). Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol, 42(5), 803-807. Abstract.  Author URL.

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