Publications

Nicholas Owen, V Trejo-Reveles, B Ching Chan, M Toms, JJ Schoenebeck, Genomics England Research Consortium, M Moosajee, J Rainger (2023). Identification of novel coloboma candidate genes through conserved gene expression analyses across four vertebrate species. Biomolecules.

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Nicholas Owen, M Toms, Y Tian, L Toualbi, R Richardson, R Young, D Tracey-White, P Dhami, S Beck, M Moosajee (2023). Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina. J. Pathology.

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P Harding, Nicholas Owen, J Eintracht, D Lima Cunha, M Moosajee (2023). Variant-specific disruption to SOX2-mediated Notch signalling in PAX6 patient hiPSC optic vesicles. JEM.

Smits JGA, Cunha D, Qu J, Nicholas Owen, Latta L, Szentmary N, Seitz B, Roux L, Moosajee M, Aberdam D, van Heeringen SJ, Zhou H (2022). Multi-omics analyses identify transcription factor interplay in corneal epithelial fate determination and disease. bioRxiv.

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J Eintracht, Nicholas Owen, Philippa Harding, M Moosajee (2022). Shared morphological and molecular pathways in microphthalmia using patient-derived iPSC-optic vesicles. IOVS.

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Nicholas Owen, M Toms, R Young, J Eintracht, H Sarkar, Genomics England Research Consortium, B Brooks, M Moosajee (2022). BMPR1B identified as a novel human ocular coloboma gene through cross-species meta-analysis. IOVS.

Source Document

Nicholas Owen, M Toms, RM Young, J Eintracht, H Sarkar, BP Brooks, M Moosajee, Genomics England Research Consortium (2022). Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis. Genet. Med..

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H Rore, Nicholas Owen, RE Piña-Aguilar, K Docherty, R Sekido (2021). Testicular somatic cell-like cells derived from embryonic stem cells induce differentiation of epiblasts into germ cells. Nature Commun Biol.

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D Lima Cunha, R Richardson, D Tracey-White, A Abbouda, A Mitsios, V Horneffer-van der Sluis, P Takis, Nicholas Owen, J Skinner, A Welch, M Moosajee (2021). REP1-deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia. JCI Insight.

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C Méjécase, CM Way, Nicholas Owen, M Moosajee (2021). Ocular Phenotype Associated with DYRK1A Variants. Genes.

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MJ Gilhooney, Nicholas Owen, M Moojajee, P Yu Wai Man (2021). From Transcriptomics to Treatment in Inherited Optic Neuropathies. Genes.

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Nicholas Owen, D Lima Cunha, V Taylor, M Corton, M Theodorou, M Moosajee (2020). PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism. Eur J Hum Genet..

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Nicholas Owen, M Moosajee (2020). Zebrafish retinal mRNA RNA-seq data processing. ProtocolExchange.

DOI

A Turner, M Topor, Nicholas Owen, A Stewart, AR Kenny, A Jones, D Ellis (2019). Open Code/Software: A primer from UKRN. UKRN.

DOI

JN Towse, S Rumsey, Nicholas Owen, C Bolibaugh, P Langford, M Jacquiery (2019). Data sharing: A primer from UKRN. UKRN.

DOI

Nicholas Owen, M Moosajee (2019). RNA-sequencing in ophthalmology research: considerations for experimental design and analysis. Ther Adv Ophthalmol..

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R Richardson, Nicholas Owen, M Toms, R Young, D Tracey-White, M Moosajee (2019). Transcriptome profiling of zebrafish optic fissure fusion. Sci Rep..

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C Yu-Wai-Man, Nicholas Owen, J Lees, AD Tagalakis, SL Hart, AR Webster, CA Orengo, PT Khaw (2017). Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery. Sci Rep..

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S Hull, Nicholas Owen, F Islam, D Tracey-White, V Plagnol, AT Moore (2016). Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. Invest Ophthalmol Vis Sci..

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BW Ogunkolade, TA Jones, J Aarum, J Szary, Nicholas Owen, D Ottaviani, A Silver, D Sheer (2013). BORIS/CTCFL is an RNA-binding protein that associates with polysomes. BMC Cell Biol..

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EM Makarov, Nicholas Owen, A Bottrill, OV Makarova (2012). Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs. NAR.

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Nicholas Owen, H Zhou, A Malygin, F Muntoni, I Eperon (2011). Design principles for bifunctional targeted oligonucleotide enhancers of splicing. Nucleic Acids Res..

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Nicholas Owen, CL Doe, J Mellor, KE Davies (2000). Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein. Hum. Mol. Genet..

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