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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. doi:

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. doi:

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. doi:

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. doi: https://doi.org/10.1167/iovs.19-26930

Includes: Supplemental Content

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. doi:

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. doi:

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. doi: https://doi.org/10.1167/iovs.16-19818

Includes: Supplemental Content

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. doi:

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. doi:

Genetics December 2015

Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis

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James Bellingham; Alice E. Davidson; Jonathan Aboshiha; Francesca Simonelli; James W. Bainbridge; Michel Michaelides; Jacqueline van der Spuy
TAGS: exons, leber's amaurosis, rna splicing, introns, rna, mutation
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):7784-7793. doi: https://doi.org/10.1167/iovs.15-18092

Includes: Supplemental Content

Genetics January 2015

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

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Alice E. Davidson; Edmondo Borasio; Petra Liskova; Arif O. Khan; Hala Hassan; Michael E. Cheetham; Vincent Plagnol; Fowzan S. Alkuraya; Stephen J. Tuft; Alison J. Hardcastle
TAGS: ehlers-danlos syndrome 6b, keratoconus, mutation, corneal diseases, phenotype, segregation analysis, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(1):578-586. doi: https://doi.org/10.1167/iovs.14-15792

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Novel ZEB1 mutations and associated posterior polymorphous corneal dystrophy phenotypes

Petra Liskova; Lubica Dudakova; Alice E Davidson; Sarka Kalasova; Alison J Hardcastle; Stephen J Tuft

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1013. doi:

Genetics May 2012

Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

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James A. Poulter; Alice E. Davidson; Manir Ali; David F. Gilmour; David A. Parry; Helen A. Mintz-Hittner; Ian M. Carr; Helen M. Bottomley; Vernon W. Long; Louise M. Downey; Panagiotis I. Sergouniotis; Genevieve A. Wright; Robert E. MacLaren; Anthony T. Moore; Andrew R. Webster; Chris F. Inglehearn; Carmel Toomes
TAGS: familial exudative vitreoretinopathies, mutation, retinal dysplasia, family
Invest. Ophthalmol. Vis. Sci.. 2012; 53(6):2873-2879. doi: https://doi.org/10.1167/iovs.11-8629

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Recessive Mutations in the PLA2G5 Gene, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina

Panagiotis I. Sergouniotis; Alice E. Davidson; Donna S. Mackay; Anthony G. Robson; Timothy W. Isaacs; Graham E. Holder; Glen Jeffery; Vincent Plagnol; Anthony T. Moore; Andrew R. Webster

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):2253. doi:

ARVO Annual Meeting Abstract March 2012

Linkage Analysis, Homozygosity Mapping, And Exome Sequencing Of A Cohort Of Families With Autosomal Recessive Retinal Disease

Alice E. Davidson; Panagiotis I. Sergouniotis; Donna S. Mackay; Zheng Li; Anthony T. Moore; Vincent Plagnol; Andrew R. Webster

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4522. doi:

ARVO Annual Meeting Abstract March 2012

The Clinical Effect of Homozygous ABCA4 Alleles in 14 Patients

Kaoru Fujinami; Panagiotis I. Sergouniotis; Donna S. Mackay; Alice E. Davidson; Anthony T. Moore; Anthony G. Robson; Graham E. Holder; Michel Michaelides; Andrew R. Webster

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4567. doi:

Retinal Cell Biology May 2011

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

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Alice E. Davidson; Ian D. Millar; Rosemary Burgess-Mullan; Geoffrey J. Maher; Jill E. Urquhart; Peter D. Brown; Graeme C. M. Black; Forbes D. C. Manson
TAGS: autosomal recessive inheritance, catabolism, missense mutation, mutation, transfection, proteins, chlorides, western blotting, fluorescent antibody technique
Invest. Ophthalmol. Vis. Sci.. 2011; 52(6):3730-3736. doi: https://doi.org/10.1167/iovs.10-6707

ARVO Annual Meeting Abstract April 2011

Mutational Load In TSPAN12 Influences The Severity Of FEVR

James A. Poulter; Alice E. Davidson; Manir Ali; Helen A. Mintz-Hittner; Louise M. Downey; Panagiotis I. Sergouniotis; Anthony T. Moore; Andrew R. Webster; Chris F. Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5370. doi:

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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

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

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

Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

Novel ZEB1 mutations and associated posterior polymorphous corneal dystrophy phenotypes

Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

Recessive Mutations in the PLA2G5 Gene, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina

Linkage Analysis, Homozygosity Mapping, And Exome Sequencing Of A Cohort Of Families With Autosomal Recessive Retinal Disease

The Clinical Effect of Homozygous ABCA4 Alleles in 14 Patients

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

Mutational Load In TSPAN12 Influences The Severity Of FEVR

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