Publications by authors named "Barry Chioza"

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Cell-type-specific DNA methylation dynamics in the prenatal and postnatal human cortex.
Alice Franklin, Jonathan P Davies, Nicholas E Clifton, Georgina E T Blake, Rosemary Bamford, Barry Chioza

Cell Genom· December 2025

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Guidance for the design and analysis of cell-type-specific DNA methylation epidemiology studies.
Emma M Walker, Emma L Dempster, Alice Franklin, Anthony Klokkaris, Barry Chioza

Brief Bioinform· July 2025

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Long-read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology.
Szi Kay Leung, Rosemary A Bamford, Aaron R Jeffries, Isabel Castanho, Barry Chioza

Nat Commun· August 2024

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Quantifying the proportion of different cell types in the human cortex using DNA methylation profiles.
Eilis Hannon, Emma L Dempster, Jonathan P Davies, Barry Chioza, Georgina E T Blake

BMC Biol· January 2024

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DNA methylation signatures of Alzheimer's disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types.
Gemma Shireby, Emma L Dempster, Stefania Policicchio, Rebecca G Smith, Ehsan Pishva, Barry Chioza

Nat Commun· September 2022

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Mutations in encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Barry A Chioza

Proc Natl Acad Sci U S A· June 2022

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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Barry A Chioza

Genet Med· March 2022

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A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Kamal Khan, Sarmad Mehmood, Chunyu Liu, Maimoona Siddiqui, Arsalan Ahmad, Barry A Chioza

Am J Med Genet A· February 2022

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Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Claire G Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry Taylor, Barry A Chioza

Brain· December 2021

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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Barry A Chioza

PLoS Genet· September 2021

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MNS1 variant associated with situs inversus and male infertility.
Joseph S Leslie, Lettie E Rawlins, Barry A Chioza, Oluwaseun R Olubodun, Claire G Salter

Eur J Hum Genet· January 2020

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Aaron R Jeffries, Reza Maroofian, Claire G Salter, Barry A Chioza, Harold E Cross

Genome Res· July 2019

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An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
Lettie E Rawlins, Hannah Jones, Olivia Wenger, Myat Aye, James Fasham, Barry A Chioza

Eur J Hum Genet· April 2019

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Copy number variation of in familial dystonic tremor.
Vafa Alakbarzade, Thomas Iype, Barry A Chioza, Royana Singh, Gaurav V Harlalka

Neurol Genet· February 2019

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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Barry A Chioza

PLoS Genet· August 2018

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Truncating mutations underlie a spectrum of dominant hereditary motor neuropathies.
Claire G Salter, Danique Beijer, Holly Hardy, Katy E S Barwick, Matthew Bower, Barry A Chioza

Neurol Genet· April 2018

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Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Barry A Chioza

BMC Med Genet· February 2018

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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Haicui Wang, Claire G Salter, Osama Refai, Holly Hardy, Katy E S Barwick, Barry A Chioza

Brain· November 2017

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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, Paris Ataliotis, Barry A Chioza, Charles Shaw-Smith, Eddie M K Chung

Pediatr Res· April 2017

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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Massimo Zollo, Mustafa Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Barry A Chioza

Brain· April 2017

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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Mustafa Y Ahmed, Aisha Al-Khayat, Fathiya Al-Murshedi, Amna Al-Futaisi, Barry A Chioza

Brain· March 2017

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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Barry A Chioza

PLoS Genet· January 2017

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Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Gaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, Anna E Skrzypiec, Mariusz W Mucha, Barry A Chioza

Hum Mutat· November 2016

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Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
Sharon Aharoni, Katy E S Barwick, Rachel Straussberg, Gaurav V Harlalka, Yoram Nevo, Barry A Chioza

BMC Med Genet· November 2016

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A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.
Masoud Dehghan Tezerjani, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Barry A Chioza, Shiva Zamaninejad

Iran J Public Health· October 2016

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