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Number of items: 70.

2023

Liu, Siyin; Sadan, Amanda N; Muthusamy, Kirithika; Zarouchlioti, Christina; Jedlickova, Jana; Pontikos, Nikolas; Thaung, Caroline; ... Liskova, Petra; + view all (2023) Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy. Acta Ophthalmologica 10.1111/aos.15654. (In press). Green open access
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Warwick, Alasdair; Curran, Katie; Hamill, Barbra; Stuart, Kelsey; Khawaja, Anthony P; Foster, Paul J; Lotery, Andrew J; ... Peto, Tunde; + view all (2023) Correction: UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases. [Corrigendum]. Eye 10.1038/s41433-022-02377-9. Green open access
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2022

Dudakova, L; Tuft, S; Cheong, S-S; Skalicka, P; Jedlickova, J; Fichtl, M; Hlozanek, M; ... Liskova, P; + view all (2022) Novel disease-causing variants and phenotypic features of X-linked megalocornea. Acta Ophthalmologica , 100 (4) pp. 431-439. 10.1111/aos.15022. Green open access
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Georgiou, Michalis; Robson, Anthony G; Jovanovic, Katarina; Cabral de Guimarães, Thales Antônio; Ali, Naser; Pontikos, Nikolas; Uwaydat, Sami H; ... Michaelides, Michel; + view all (2022) RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History. Ophthalmology 10.1016/j.ophtha.2022.11.015. (In press). Green open access
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Maile, Howard P; Li, Ji-Peng Olivia; Fortune, Mary D; Royston, Patrick; Leucci, Marcello T; Moghul, Ismail; Szabo, Anita; ... Gore, Daniel M; + view all (2022) Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data. American Journal of Ophthalmology , 240 pp. 321-329. 10.1016/j.ajo.2022.04.004. Green open access
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Patterson, Emily J; Kalitzeos, Angelos; Kane, Thomas M; Singh, Navjit; Kreis, Joseph; Pennesi, Mark E; Hardcastle, Alison J; ... Carroll, Joseph; + view all (2022) Foveal Cone Structure in Patients With Blue Cone Monochromacy. Investigative Ophthalmology & Visual Science , 63 (11) , Article 23. 10.1167/iovs.63.11.23. Green open access
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Warwick, Alasdair N; Curran, Katie; Hamill, Barbra; Stuart, Kelsey; Khawaja, Anthony P; Foster, Paul J; Lotery, Andrew J; ... Peto, Tunde; + view all (2022) UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases. Eye 10.1038/s41433-022-02298-7. Green open access
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Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur V; Stingl, Katarina; Audo, Isabelle; ... Kohl, Susanne; + view all (2022) The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy. Proceedings of the National Academy of Sciences , 119 (27) , Article e2115538119. 10.1073/pnas.2115538119. Green open access
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2021

Carnt, NA; Pang, I; Burdon, KP; Calder, V; Dart, JK; Subedi, D; Hardcastle, AJ; (2021) Innate and Adaptive Gene Single Nucleotide Polymorphisms Associated With Susceptibility of Severe Inflammatory Complications in Acanthamoeba Keratitis. Investigative Ophthalmology & Visual Science , 62 (3) , Article 33. 10.1167/iovs.62.3.33. Green open access
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Gharahkhani, P; Jorgenson, E; Hysi, P; Khawaja, AP; Pendergrass, S; Han, X; Ong, JS; ... Wiggs, JL; + view all (2021) Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nature Communications , 12 (1) , Article 1258. 10.1038/s41467-020-20851-4. (In press). Green open access
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Hardcastle, AJ; Liskova, P; Bykhovskaya, Y; McComish, BJ; Davidson, AE; Inglehearn, CF; Li, X; ... Hysi, PG; + view all (2021) A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. Communications Biology , 4 , Article 266. 10.1038/s42003-021-01784-0. Green open access
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Maile, H; Li, J-PO; Gore, D; Leucci, M; Mulholland, P; Hau, S; Szabo, A; ... Pontikos, N; + view all (2021) Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review. JMIR Medical Informatics , 9 (12) , Article e27363. 10.2196/27363. Green open access
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Paterson, EN; Cardwell, C; MacGillivray, TJ; Trucco, E; Doney, AS; Foster, P; Maxwell, AP; ... UK Biobank Eye and Vision Consortium; + view all (2021) Investigation of associations between retinal microvascular parameters and albuminuria in UK Biobank: a cross-sectional case-control study. BMC Nephrology , 22 , Article 72. 10.1186/s12882-021-02273-6. Green open access
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Patterson, EJ; Langlo, CS; Georgiou, M; Kalitzeos, A; Pennesi, ME; Neitz, J; Hardcastle, AJ; ... Carroll, J; + view all (2021) Comparing retinal structure in patients with achromatopsia and blue cone monochromacy using optical coherence tomography. Ophthalmology Science , Article 100047. 10.1016/j.xops.2021.100047. Green open access
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2020

Choquet, H; Melles, RB; Yin, J; Hoffmann, TJ; Thai, KK; Kvale, MN; Banda, Y; ... Jorgenson, E; + view all (2020) A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness. Communications Biology , 3 , Article 301. 10.1038/s42003-020-1037-7. Green open access
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Chua, SYL; Khawaja, AP; Dick, AD; Morgan, J; Dhillon, B; Lotery, AJ; Strouthidis, NG; ... UK Biobank Eye and Vision Consortium; + view all (2020) Ambient Air Pollution Associations with Retinal Morphology in the UK Biobank. Investigative Ophthalmology & Visual Science , 61 (5) , Article 32. 10.1167/iovs.61.5.32. Green open access
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Davidson, AE; Hafford-Tear, NJ; Dudakova, L; Sadan, AN; Pontikos, N; Hardcastle, AJ; Tuft, SJ; (2020) CUGC for posterior polymorphous corneal dystrophy (PPCD). European Journal of Human Genetics , 28 pp. 126-131. 10.1038/s41431-019-0448-8. Green open access
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De Bruijn, SE; Fiorentino, A; Ottaviani, D; Fanucchi, S; Melo, US; Corral-Serrano, JC; Mulders, T; ... Hardcastle, AJ; + view all (2020) Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. American Journal of Human Genetics 10.1016/j.ajhg.2020.09.002. (In press). Green open access
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Fan, Q; Pozarickij, A; Tan, NYQ; Guo, X; Verhoeven, VJM; Vitart, V; Guggenheim, JA; ... Cheng, C-Y; + view all (2020) Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. Communications Biology , 3 , Article 133. 10.1038/s42003-020-0802-y. Green open access
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Khawaja, AP; Chua, S; Hysi, PG; Georgoulas, S; Currant, H; Fitzgerald, TW; Birney, E; ... UK Biobank Eye and Vision Consortium; + view all (2020) Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort: The UK Biobank. Ophthalmology , 127 (1) pp. 62-71. 10.1016/j.ophtha.2019.08.015. Green open access
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Lane, A; Jovanovic, K; Shortall, C; Ottaviani, D; Panes, AB; Schwarz, N; Guarascio, R; ... Cheetham, ME; + view all (2020) Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids. Stem Cell Reports 10.1016/j.stemcr.2020.05.007. (In press). Green open access
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Petzold, A; Chua, SYL; Khawaja, AP; Keane, PA; Khaw, PT; Reisman, C; Dhillon, B; ... Patel, PJ; + view all (2020) Retinal asymmetry in multiple sclerosis. Brain 10.1093/brain/awaa361. (In press). Green open access
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Poulter, JA; Gravett, MSC; Taylor, RL; Fujinami, K; De Zaeytijd, J; Bellingham, J; Rehman, AU; ... Inglehearn, CF; + view all (2020) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation 10.1002/humu.24140. (In press). Green open access
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2019

Bonnemaijer, PWM; Leeuwen, EMV; Iglesias, AI; Gharahkhani, P; Vitart, V; Khawaja, AP; Simcoe, M; ... Duijn, CMV; + view all (2019) Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. Communications Biology , 2 , Article 435. 10.1038/s42003-019-0634-9. Green open access
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Bouzia, Z; Georgiou, M; Hull, S; Robson, AG; Fujinami, K; Rotsos, T; Pontikos, N; ... Michaelides, M; + view all (2019) GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. American Journal of Ophthalmology 10.1016/j.ajo.2019.10.019. (In press). Green open access
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Chua, S; Thomas, D; Allen, N; Lotery, A; Desai, P; Patel, P; Muthy, Z; ... Foster, PJ; + view all (2019) Cohort profile: design and methods in the eye and vision consortium of UK Biobank. BMJ Open , 9 (2) , Article e025077. 10.1136/bmjopen-2018-025077. Green open access
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Davidson, A; (2019) The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. Experimental Eye Research , 182 pp. 160-166. 10.1016/j.exer.2019.03.002. Green open access
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Hafford-Tear, NJ; Tsai, Y-C; Sadan, AN; Sanchez-Pintado, B; Zarouchlioti, C; Maher, GJ; Liskova, P; ... Davidson, AE; + view all (2019) CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat. Genetics in Medicine 10.1038/s41436-019-0453-x. (In press). Green open access
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Pozarickij, A; Williams, C; Hysi, PG; Guggenheim, JA; UK Biobank Eye and Vision Consortium; (2019) Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development. Communications Biology , 2 , Article 167. 10.1038/s42003-019-0387-5. Green open access
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Taylor, RL; Poulter, JA; Downes, SM; McKibbin, M; Khan, KN; Inglehearn, CF; Webster, AR; ... UKIRDC; + view all (2019) Loss-of-function mutations in the CFH gene affecting alternatively encoded Factor H-like 1 protein cause dominant early-onset macular drusen. Ophthalmology , 126 (10) pp. 1410-1421. 10.1016/j.ophtha.2019.03.013. Green open access
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Zhang, B; Shweikh, Y; Khawaja, AP; Gallacher, J; Bauermeister, S; Foster, PJ; UKBiobank Eye and Vision Consortium; (2019) Associations with Corneal Hysteresis in a Population Cohort: Results from 96 010 UK Biobank Participants. Ophthalmology , 126 (11) pp. 1500-1510. 10.1016/j.ophtha.2019.06.029. Green open access
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2018

Dudakova, L; Cheong, S-S; Merjava, SR; Skalicka, P; Michalickova, M; Palos, M; Mahelkova, G; ... Liskova, P; + view all (2018) Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization. Stem Cell Reviews and Reports , 14 (1) pp. 148-151. 10.1007/s12015-017-9780-y. Green open access
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Evans, CJ; Dudakova, L; Skalicka, P; Mahelkova, G; Horinek, A; Hardcastle, AJ; Tuft, SJ; (2018) Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. BMC Ophthalmology , 18 (250) 10.1186/s12886-018-0918-8. Green open access
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Fiorentino, A; Fujinami, K; Arno, G; Robson, AG; Pontikos, N; Arasanz Armengol, M; Plagnol, V; ... 100,000 Genomes Project, the Japan Eye Genetic Consortium & the; + view all (2018) Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Human Mutation , 39 (1) pp. 80-91. 10.1002/humu.23349. Green open access
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Fiorentino, A; Yu, J; Arno, G; Pontikos, N; Halford, S; Broadgate, S; Michaelides, M; ... U.K. Inherited Retinal Dystrophy Consortium; + view all (2018) Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. Molecular Vision , 24 pp. 603-612. Green open access
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Hardcastle, AJ; Sieving, PA; Sahel, J-A; Jacobson, SG; Cideciyan, A; Flannery, JG; Beltran, WA; (2018) Translational Retinal Research and Therapies. Translational Vision Science & Technology , 7 (5) , Article 8. 10.1167/tvst.7.5.8. Green open access
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Liskova, P; Dudakova, L; Evans, CJ; Rojas Lopez, KE; Pontikos, N; Athanasiou, D; Jama, H; ... Hardcastle, AJ; + view all (2018) Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. American Journal of Human Genetics , 102 (3) pp. 447-459. 10.1016/j.ajhg.2018.02.002. Green open access
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Patterson, EJ; Kalitzeos, A; Kasilian, M; Gardner, JC; Neitz, J; Hardcastle, AJ; Neitz, M; ... Michaelides, M; + view all (2018) Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations. Investigative Ophthalmology & Visual Science , 59 (10) pp. 4238-4248. 10.1167/iovs.18-24699. Green open access
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Tedja, MS; Wojciechowski, R; Hysi, PG; Eriksson, N; Furlotte, NA; Verhoeven, VJM; Iglesias, AI; ... Klaver, CCW; + view all (2018) Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nature Genetics , 50 pp. 834-848. 10.1038/s41588-018-0127-7. Green open access
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Zarouchlioti, C; Sanchez-Pintado, B; Hafford Tear, NJ; Klein, P; Liskova, P; Dulla, K; Semo, M; ... Davidson, AE; + view all (2018) Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity. The American Journal of Human Genetics , 102 (4) pp. 528-539. 10.1016/j.ajhg.2018.02.010. Green open access
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2017

Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; ... Yu, P; + view all (2017) Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. The American Journal of Human Genetics , 100 (2) pp. 334-342. 10.1016/j.ajhg.2016.12.014. Green open access
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Cheong, SS; Hull, S; Jones, B; Chana, R; Thornton, N; Plagnol, V; Moore, AT; (2017) Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype. Human Genome Variation , 4 , Article 17004. 10.1038/hgv.2017.4. Green open access
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Khan, KN; El-Asrag, ME; Ku, CA; Holder, GE; McKibbin, M; Arno, G; Poulter, JA; ... for NIHR BioResource-Rare Diseases and UK Inherited Retinal Dise, .; + view all (2017) Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Investigative Ophthalmology & Visual Science , 58 (7) pp. 2906-2914. 10.1167/iovs.16-20608. Green open access
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Mughal, S; Moghul, I; Yu, J; Clark, T; Gregory, DS; Pontikos, N; (2017) Pheno4J: a gene to phenotype graph database. Bioinformatics , 33 (20) pp. 3317-3319. 10.1093/bioinformatics/btx397. Green open access
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Pontikos, N; Yu, J; Moghul, I; Withington, L; Blanco-Kelly, F; Vulliamy, T; Wong, TL; ... Plagnol, V; + view all (2017) Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data. Bioinformatics , 33 (15) pp. 2421-2423. 10.1093/bioinformatics/btx147. Green open access
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Schwarz, N; Lane, A; Jovanovic, K; Parfitt, DA; Aguila, M; Thompson, CL; da Cruz, L; ... Cheetham, ME; + view all (2017) Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. [Corrigendum]. Human Molecular Genetics , 26 (17) p. 3451. 10.1093/hmg/ddx245. Green open access
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Schwarz, N; Lane, A; Jovanovich, K; Parfitt, DA; Aguila, M; Thompson, CL; da Cruz, L; ... Cheetham, ME; + view all (2017) Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. Human Molecular Genetics , 26 (13) pp. 2480-2492. 10.1093/hmg/ddx143. Green open access
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Taylor, RL; Arno, G; Poulter, JA; Khan, KN; Morarji, J; Hull, S; Pontikos, N; ... UK Inherited Retinal Disease Consortium and the 100,000 Genomes; + view all (2017) Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmology , 135 (4) pp. 339-347. 10.1001/jamaophthalmol.2017.0046. Green open access
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Xu, M; Xie, YA; Abouzeid, H; Gordon, CT; Fiorentino, A; Sun, Z; Lehman, A; ... Schorderet, DF; + view all (2017) Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics , 100 (4) pp. 592-604. 10.1016/j.ajhg.2017.02.008. Green open access
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2016

Aboshiha, J; Dubis, AM; Carroll, J; Harcastle, AJ; Michaelides, M; (2016) The Cone Dysfunction Syndromes. British Journal of Ophthalmology , 100 (1) pp. 115-121. 10.1136/bjophthalmol-2014-306505. Green open access
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Arno, G; Agrawal, SA; Eblimit, A; Bellingham, J; Xu, M; Wang, F; Chakarova, C; ... Chen, R; + view all (2016) Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet , 99 (6) pp. 1305-1315. 10.1016/j.ajhg.2016.10.008. Green open access
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Arno, G; Holder, GE; Chakarova, C; Kohl, S; Pontikos, N; Fiorentino, A; Plagnol, V; ... UK Inherited Retinal Disease Consortium, .; + view all (2016) Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3). JAMA Ophthalmology , 134 (8) pp. 924-927. 10.1001/jamaophthalmol.2016.1543. Green open access
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Cheong, SS; Hentschel, L; Davidson, AE; Gerrelli, D; Davie, R; Rizzo, R; Pontikos, N; ... Hardcastle, AJ; + view all (2016) Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. American Journal of Human Genetics , 99 (6) pp. 1338-1352. 10.1016/j.ajhg.2016.09.022. Green open access
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Davidson, AE; Liskova, P; Evans, CJ; Dudakova, L; Nosková, L; Pontikos, N; Hartmannová, H; ... Hardcastle, AJ; + view all (2016) Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. American Journal of Human Genetics , 98 (1) pp. 75-89. 10.1016/j.ajhg.2015.11.018. Green open access
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Downs, LM; Webster, AR; Moore, AT; Michaelides, M; Ali, RR; Hardcastle, AJ; Mellersh, CS; (2016) Investigation of SLA4A3 as a candidate gene for human retinal disease. Journal of Negative Results in BioMedicine , 15 , Article 11. 10.1186/s12952-016-0054-z. Green open access
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Evans, CJ; Davidson, AE; Carnt, N; Rojas López, KE; Veli, N; Thaung, CM; Tuft, SJ; (2016) Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy. Invest Ophthalmol Vis Sci , 57 (13) pp. 5407-5414. 10.1167/iovs.16-19818. Green open access
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Gardner, JC; Michaelides, M; Hardcastle, AJ; (2016) Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations. The South African Medical Journal , 106 (6) S75-S78. 10.7196/SAMJ.2016.v106i6.11001. Green open access
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Morantes, S; Evans, CJ; Valencia, AV; Davidson, AE; Hardcastle, AJ; Linares, AR; Tuft, SJ; (2016) Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family. Cornea , 35 (8) pp. 1141-1146. 10.1097/ICO.0000000000000895. Green open access
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Parfitt, DA; Lane, A; Ramsden, C; Jovanovic, K; Coffey, PJ; Hardcastle, AJ; Cheetham, ME; (2016) Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies. Biochemical Society Transactions , 44 (5) pp. 1245-1251. 10.1042/BST20160156. Green open access
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Parfitt, DA; Lane, A; Ramsden, CM; Carr, A-JF; Munro, PM; Jovanovic, K; Schwarz, N; ... Cheetham, ME; + view all (2016) Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. Cell Stem Cell , 18 (6) pp. 769-781. 10.1016/j.stem.2016.03.021. Green open access
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Patterson, EJ; Wilk, M; Langlo, CS; Kasilian, M; Ring, M; Hufnagel, RB; Dubis, AM; ... Carroll, J; + view all (2016) Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE , 57 (8) pp. 3853-3863. 10.1167/iovs.16-19608. Green open access
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Tee, JJ; Smith, AJ; Hardcastle, AJ; Michaelides, M; (2016) RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. British Journal of Ophthalmology , 100 (8) pp. 1022-1027. 10.1136/bjophthalmol-2015-307698. Green open access
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2015

Davidson, AE; Borasio, E; Liskova, P; Khan, AO; Hassan, H; Cheetham, ME; Plangol, V; ... Hardcastle, AJ; + view all (2015) Brittle Cornea Syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial Keratoconus. Investigative Ophthalmology & Visual Science , 56 pp. 578-586. 10.1167/iovs.14-15792. Green open access
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Schwarz, N; Carr, AJ; Lane, A; Moeller, F; Chen, LL; Aguilà, M; Nommiste, B; ... Hardcastle, AJ; + view all (2015) Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. Hum Mol Genet , 24 (4) 972 - 986. 10.1093/hmg/ddu509. Green open access
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2014

Davidson, AE; Cheong, SS; Hysi, PG; Venturini, C; Plagnol, V; Ruddle, JB; Ali, H; ... Hardcastle, AJ; + view all (2014) Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. PLoS One , 9 (8) , Article e104163. 10.1371/journal.pone.0104163. Green open access
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Gardner, JC; Liew, G; Quan, YH; Ermetal, B; Ueyama, H; Davidson, AE; Schwarz, N; ... Hardcastle, AJ; + view all (2014) Three Different Cone Opsin Gene Array Mutational Mechanisms; Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants. Hum Mutat , 35 (11) pp. 1354-1362. 10.1002/humu.22679. Green open access
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2012

Liskova, P; Gwilliam, R; Filipec, M; Jirsova, K; Reinstein Merjava, S; Deloukas, P; Webb, TR; ... Hardcastle, AJ; + view all (2012) High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. PLoS One , 7 (9) , Article e45495. 10.1371/journal.pone.0045495. Green open access
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Webb, TR; Matarin, M; Gardner, JC; Kelberman, D; Hassan, H; Ang, W; Michaelides, M; ... Hardcastle, AJ; + view all (2012) X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. The American Journal of Human Genetics , 90 (2) 247 - 259. 10.1016/j.ajhg.2011.12.019. Green open access
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2009

Gardner, JC; Michaelides, M; Holder, GE; Kanuga, N; Webb, TR; Mollon, JD; Moore, AT; (2009) Blue cone monochromacy: Causative mutations and associated phenotypes. Molecular Vision , 15 (90-93) 876 - 884. Green open access
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2003

Zito, I; Downes, SM; Patel, RJ; Cheetham, ME; Ebenezer, ND; Jenkins, SA; Bhattacharya, SS; ... Hardcastle, AJ; + view all (2003) RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J MED GENET , 40 (8) 609 - 615. Green open access
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This list was generated on Sun Mar 24 09:28:46 2024 GMT.