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ARVO Annual Meeting Abstract June 2024

A novel autosomal dominant Corneal Stromal Dystrophy associated with a SPARCL1 missense variant

Freddie L Braddock; Beatriz Sanchez Pintado; Anita Szabo; Nihar Bhattacharyya; Samanta Mitchell; Caroline Thaung; Jessica C Gardner; Alice E Davidson; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2167.

ARVO Annual Meeting Abstract June 2023

Keratoconus Classification and Segmentation using Deep Learning on Raw Anterior-Segment Optical Coherence Tomorgraphy Imaging

Lynn Kandakji; Howard Maile; Olivia Li; Marcello Leucci; Alan Wilter; Ismail Moghul; Alison J Hardcastle; Konstantinos Balaskas; Daniel Gore; Stephen J Tuft; NIKOLAS PONTIKOS

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1099.

ARVO Annual Meeting Abstract June 2023

Mendelian Randomization analyses identify environmental factors that influence keratoconus risk

Pirro G Hysi; Alice E Davidson; Petra Liskova; Paul N Baird; Kathryn P Burdon; Christopher J Hammond; Alison J Hardcastle; Stephen J Tuft

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1178.

ARVO Annual Meeting Abstract June 2023

Genome Sequencing of a Familial Keratoconus Cohort

Freddie Louis Braddock; Anita Szabo; Nikolas Pontikos; Pirro G Hysi; Stephen J Tuft; Alice E Davidson; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4357.

ARVO Annual Meeting Abstract June 2021

CTG18.1-mediated Fuchs Endothelial Corneal Dystrophy: defining unique signatures of transcriptomic dysregulation

Nihar Bhattacharyya; Nathaniel Hafford-Tear; Amanda N Sadan; Christina Zarouchlioti; Kirithika Muthusamy; Petra Liskova; Stephen J Tuft; Alison J Hardcastle; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1454.

ARVO Annual Meeting Abstract June 2021

Investigation of transcriptional dysregulation events driving Posterior Polymorphous Corneal Dystrophy type 1

Nathaniel Hafford-Tear; Lubica Dudakova; Stephen J Tuft; Amanda N Sadan; Nihar Bhattacharyya; Christina Zarouchlioti; Alison J Hardcastle; Petra Liskova; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1450.

ARVO Annual Meeting Abstract July 2019

New insights into gene expression profiling of human aniridic corneal stromal cells

Carla Sanchez Martinez; Victoria E Tovell; Stephen J Tuft; Julie T Daniels

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1368.

ARVO Annual Meeting Abstract July 2019

Development of patient-derived iPSC disease models of TGFBI corneal dystrophies

Beatriz Sanchez; Alice E Davidson; Kirithika Muthusamy; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4151.

ARVO Annual Meeting Abstract July 2019

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

Alison J Hardcastle; Pirro G Hysi; Karla Rojas-Lopez; Petra Liskova; Alice E Davidson; Manir Ali; Kathryn P Burdon; David O'Brart; Chris Inglehearn; Paul N Baird; Christopher J Hammond; Stephen J Tuft

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4249.

ARVO Annual Meeting Abstract July 2019

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat

Alice E Davidson; Nathaniel J Hafford Tear; Yu-Chih Tsai; Amanda Sadan; Beatriz Sanchez-Pintado; Christina Zarouchlioti; Petra Liskova; Stephen J Tuft; Tyson A Clark; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6055.

Genetics July 2019

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

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Kristyna Brejchova; Lubica Dudakova; Pavlina Skalicka; Robert Dobrovolny; Petr Masek; Martina Putzova; Mariya Moosajee; Stephen J. Tuft; Alice E. Davidson; Petra Liskova
TAGS: biological models, cornea, endothelium, heterogeneous nuclear rna, rna splicing, proband, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3084-3090. https://doi.org/10.1167/iovs.19-26930

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Phenotypic study of PAX6 haploinsufficient aniridic corneal stromal cells in a tissue equivalent

Carla Sanchez Martinez; Victoria Tovell; Stephen J. Tuft; Julie T Daniels

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):523.

ARVO Annual Meeting Abstract July 2018

Five novel ZEB1 mutations including a 0.34 Mb deletion detected by whole genome sequencing in patients with posterior polymorphous corneal dystrophy type 3

Petra Liskova; Lubica Dudakova; Cerys J. Evans; Pavlina Skalicka; Nikolas Pontikos; Ales Horinek; Tomas Kubena; Alice Davidson; Alison J Hardcastle; Stephen J. Tuft

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2917.

ARVO Annual Meeting Abstract July 2018

Relationship of severity of Fuchs endothelial corneal dystrophy with triplet repeat expansion in TCF4 and The Potential Implications to Surgical Intervention

Kirithika Muthusamy; Beatriz Sanchez-Pintado; Nathaniel Hafford Tear; Petra Liskova; Peter S Adamson; Alison J Hardcastle; Alice E Davidson; Stephen J. Tuft

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2920.

ARVO Annual Meeting Abstract July 2018

RNA toxicity induced by TCF4 CTG expansions is ameliorated by antisense therapeutics in a patient-derived cell model of Fuchs corneal endothelial dystrophy (FECD).

Alice E Davidson; Christina Zarouchlioti; Beatriz Sanchez-Pintado; Nathaniel Hafford Tear; Pontus Klein; Petra Liskova; Kalyan Dulla; Kirithika Muthusamy; Lubica Dudakova; Pavlina Skalicka; Pirro G Hysi; Michael E. Cheetham; Stephen J. Tuft; Peter S Adamson; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3022.

Genetics October 2016

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy

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Cerys J. Evans; Alice E. Davidson; Nicole Carnt; Karla E. Rojas López; Neyme Veli; Caroline M. Thaung; Stephen J. Tuft; Alison J. Hardcastle
TAGS: basement membrane, epithelium, genotype, hereditary corneal dystrophy, mutation, phenotype, proband, cohort studies, meretoja syndrome
Invest. Ophthalmol. Vis. Sci.. 2016; 57(13):5407-5414. https://doi.org/10.1167/iovs.16-19818

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Altered patterns of fungal keratitis in London: an 8-year retrospective observational study

Hon Shing Ong; Stephen J Tuft; John Kenneth George Dart; Matthew Burton

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):313.

ARVO Annual Meeting Abstract September 2016

Genome-wide association study identifies new loci associated with corneal biomechanical properties

Anthony P Khawaja; Pirro G Hysi; David C Broadway; David F Garway-Heath; Shabina Hayat; Robert Luben; Stephen J Tuft; Nicholas Wareham; Kay-Tee Khaw; Christopher J Hammond; Paul J Foster

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract September 2016

Autosomal dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2 .

Alice E Davidson; Petra Liskova; Cerys J Evans; Lubica Dudakova; Lenka Nosková; Nikolas Pontikos; Vincent Plagnol; Martin Filipec; Stanislav Kmoch; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4821.

ARVO Annual Meeting Abstract September 2016

The mutational spectrum of anterior corneal dystrophies in the UK

Cerys J Evans; Alice E Davidson; Nicole Carnt; Neyme Veli; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4824.

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A novel autosomal dominant Corneal Stromal Dystrophy associated with a SPARCL1 missense variant

Keratoconus Classification and Segmentation using Deep Learning on Raw Anterior-Segment Optical Coherence Tomorgraphy Imaging

Mendelian Randomization analyses identify environmental factors that influence keratoconus risk

Genome Sequencing of a Familial Keratoconus Cohort

CTG18.1-mediated Fuchs Endothelial Corneal Dystrophy: defining unique signatures of transcriptomic dysregulation

Investigation of transcriptional dysregulation events driving Posterior Polymorphous Corneal Dystrophy type 1

New insights into gene expression profiling of human aniridic corneal stromal cells

Development of patient-derived iPSC disease models of TGFBI corneal dystrophies

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

Phenotypic study of PAX6 haploinsufficient aniridic corneal stromal cells in a tissue equivalent

Five novel ZEB1 mutations including a 0.34 Mb deletion detected by whole genome sequencing in patients with posterior polymorphous corneal dystrophy type 3

Relationship of severity of Fuchs endothelial corneal dystrophy with triplet repeat expansion in TCF4 and The Potential Implications to Surgical Intervention

RNA toxicity induced by TCF4 CTG expansions is ameliorated by antisense therapeutics in a patient-derived cell model of Fuchs corneal endothelial dystrophy (FECD).

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy

Altered patterns of fungal keratitis in London: an 8-year retrospective observational study

Genome-wide association study identifies new loci associated with corneal biomechanical properties

Autosomal dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2 .

The mutational spectrum of anterior corneal dystrophies in the UK

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