Browse by UCL people
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Number of items: 37.
Article
Ansari, M;
Rainger, J;
Hanson, IM;
Williamson, KA;
Sharkey, F;
Harewood, L;
Sandilands, A;
... FitzPatrick, DR; + view all
(2016)
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
PLoS One
, 11
(4)
, Article e0153757. 10.1371/journal.pone.0153757.
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Barsam, A;
Brennan, N;
Petrushkin, H;
Xing, W;
Quartilho, A;
Bunce, C;
Foot, B;
... Tuft, S; + view all
(2017)
Case-control study of risk factors for acute corneal hydrops in keratoconus.
British Journal of Ophthalmology
, 101
(4)
pp. 499-502.
10.1136/bjophthalmol-2015-308251.
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Brejchova, K;
Dudakova, L;
Skalicka, P;
Dobrovolny, R;
Masek, P;
Putzova, M;
Moosajee, M;
... Liskova, P; + view all
(2019)
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.
Investigative Ophthalmology & Visual Science
, 60
(8)
pp. 3084-3090.
10.1167/iovs.19-26930.
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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.
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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.
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Daniel, MC;
O’Gallagher, M;
Hingorani, M;
Dahlmann-Noor, A;
Tuft, S;
(2016)
Challenges in the management of pediatric blepharokeratoconjunctivis / ocular rosacea.
Expert Review of Ophthalmology
, 11
(4)
pp. 299-309.
10.1080/17469899.2016.1209408.
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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.
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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.
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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.
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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.
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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.
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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.
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Dziasko, MA;
Armer, HE;
Levis, HJ;
Shortt, AJ;
Tuft, S;
Daniels, JT;
(2014)
Localisation of epithelial cells capable of holoclone formation in vitro and direct interaction with stromal cells in the native human limbal crypt.
PLoS One
, 9
(4)
, Article e94283. 10.1371/journal.pone.0094283.
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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.
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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.
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Fautsch, MP;
Wieben, ED;
Baratz, KH;
Bhattacharyya, N;
Sadan, AN;
Hafford-Tear, NJ;
Tuft, SJ;
(2020)
TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat associated disease.
Progress in Retinal and Eye Research
, Article 100883. 10.1016/j.preteyeres.2020.100883.
(In press).
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Fung, SSM;
Stewart, RMK;
Dhallu, SK;
Sim, DA;
Keane, PA;
Wilkins, MR;
Tuft, SJ;
(2019)
Anterior Segment Optical Coherence Tomographic Angiography Assessment of Acute Chemical Injury.
American Journal of Ophthalmology
, 205
pp. 165-174.
10.1016/j.ajo.2019.04.021.
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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).
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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.
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Khawaja, AP;
Rojas Lopez, KE;
Hardcastle, AJ;
Hammond, CJ;
Liskova, P;
Davidson, AE;
Gore, DM;
... Hysi, PG; + view all
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
JAMA Ophthalmology
10.1001/jamaophthalmol.2019.2058.
(In press).
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Kit, V;
Kriman, J;
Vasquez-Perez, A;
Muthusamy, K;
Thaung, C;
Tuft, S;
(2020)
Descemet Membrane Detachment After Penetrating Keratoplasty for Keratoconus.
Cornea
, 39
(10)
pp. 1315-1320.
10.1097/ICO.0000000000002352.
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Larkin, DFP;
Chowdhury, K;
Burr, JM;
Raynor, M;
Edwards, M;
Tuft, SJ;
Bunce, C;
... KERALINK Trial Study Group; + view all
(2021)
Effect of Corneal Cross-linking versus Standard Care on Keratoconus Progression in Young Patients: The KERALINK Randomized Controlled Trial.
Ophthalmology
10.1016/j.ophtha.2021.04.019.
(In press).
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Larkin, DFP;
Chowdhury, K;
Doré, CJ;
Bunce, C;
Burr, JM;
Caverly, E;
French, L;
... Tuft, SJ; + view all
(2021)
Epithelium-off corneal cross-linking surgery compared with standard care in 10- to 16-year-olds with progressive keratoconus: the KERALINK RCT.
Efficacy and Mechanism Evaluation
, 8
(15)
pp. 1-46.
10.3310/eme08150.
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Li, Ji-Peng Olivia;
Maile, Howard P;
Bunce, Catey;
Kandakji, Lynn;
Leucci, Marcello T;
Allan, Bruce D;
Tuft, Stephen J;
... Gore, Daniel M; + view all
(2024)
A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds.
Eye
, 38
pp. 1681-1686.
10.1038/s41433-024-02994-6.
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Liskova, P;
Hafford-Tear, NJ;
Skalicka, P;
Malinka, F;
Jedlickova, J;
Ďuďáková, Ľ;
Pontikos, N;
... Tuft, S; + view all
(2022)
Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.
Acta Ophthalmologica
, 100
(7)
e1426-e1430.
10.1111/aos.15114.
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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.
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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).
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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.
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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.
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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.
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Ong, HS;
Fung, SSM;
Macleod, D;
Dart, JKG;
Tuft, SJ;
Burton, MJ;
(2016)
Altered Patterns of Fungal Keratitis at a London Ophthalmic Referral Hospital: An Eight-Year Retrospective Observational Study.
American Journal of Ophthalmology
, 168
pp. 227-236.
10.1016/j.ajo.2016.05.021.
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Pontikos, N;
Chua, S;
Foster, PJ;
Tuft, SJ;
Day, AC;
UK Biobank Eye and Vision Consortium;
(2019)
Frequency and distribution of corneal astigmatism and keratometry features in adult life: Methodology and findings of the UK Biobank study.
PLoS One
, 14
(9)
, Article e0218144. 10.1371/journal.pone.0218144.
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Sergouniotis, PI;
Maxime, E;
Leroux, D;
Olry, A;
Thompson, R;
Rath, A;
Robinson, PN;
... Zrenner, E; + view all
(2019)
An ontological foundation for ocular phenotypes and rare eye diseases.
[Letter].
Orphanet Journal of Rare Diseases
, 14
, Article 8. 10.1186/s13023-018-0980-6.
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Tuft, S;
Evans, J;
Gordon, I;
Leck, A;
Stone, N;
Neal, T;
Macleod, D;
... Burton, MJ; + view all
(2023)
Antimicrobial resistance in topical treatments for microbial keratitis: protocol for a systematic review and meta-analysis.
BMJ open
, 13
(3)
, Article e069338. 10.1136/bmjopen-2022-069338.
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Tuft, S;
Marshall, J;
Rothery, S;
(1987)
Stromal remodelling following photorefractive keratectomy.
Lasers in Ophthalmology
, 1
(4)
pp. 177-183.
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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.
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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.
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