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ARVO Annual Meeting Abstract June 2021

Whole genome sequencing and UMI-4C provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis -regulatory disease

Stijn Van de Sompele; Eva D'haene; Thijs Van der Snickt; Sarah Vergult; Petra Liskova; Fadi Shaya; Karen Nuytemans; Jeffery M Vance; Margaret A Pericak-Vance; Andrea L Vincent; Steven Agemy; Kent W Small; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3. doi:

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. doi:

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. 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:

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

Rare genetic causes of dominant optic atrophy

Petra Liskova; Pavel Diblik; Marketa Tesarova; Lukas Huna; Tomas Honzik; Lubica Dudakova

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3596. 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

X-linked cone dystrophy and Blue Cone Monochromacy caused by novel and rare L/M opsin interchange haplotypes.

Jessica Clare Gardner; Petra Liskova; Jonathan Ruddle; Bohdan Kousal; Michel Michaelides; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2325. doi:

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. doi:

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:

ARVO Annual Meeting Abstract July 2018

Molecular genetic investigation of two distinct monogenic disorders with ocular involvement in a large consanguineous Roma family

Lubica Dudakova; Pavlina Skalicka; Petra Liskova

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):328. doi:

ARVO Annual Meeting Abstract June 2017

Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution

Dora Julia Szabo; Richárd Nagymihály; Zoltán Veréb; Natasha Josifovska; Agate Noer; Petra Liskova; Andrea Facskó; Morten Moe; Goran Petrovski

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1398. doi:

ARVO Annual Meeting Abstract September 2016

Implications of retinal imaging for identification of Danon disease patients

Bohdan Kousal; Filip Majer; Hana Vlaskova; Lenka Dvorakova; Tomas Palecek; Milos Kubanek; Veronika Stara; Jakub Sikora; Petra Liskova

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3170. doi:

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 June 2015

Novel mutations causing CRB1 associated retinal degeneration in Czech patients and comparison of methods for mutation detection

Bohdan Kousal; Lubica Dudakova; Renata Gaillyova; Pavel Diblik; Petra Liskova

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1251. doi:

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:

ARVO Annual Meeting Abstract April 2014

Identification and segregation analysis of rare ZNF469 coding variants in familial Keratoconus

Alice Davidson; Edmondo Borasio; Valentina Cipriani; Petra Liskova; Vincent Plagnol; Stephen J Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6412. doi:

Cornea August 2011

Large Proteoglycan Complexes and Disturbed Collagen Architecture in the Corneal Extracellular Matrix of Mucopolysaccharidosis Type VII (Sly Syndrome)

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Robert D. Young; Petra Liskova; Christian Pinali; Barbara P. Palka; Michalis Palos; Katerina Jirsova; Enkela Hrdlickova; Marketa Tesarova; Milan Elleder; Jiri Zeman; Keith M. Meek; Carlo Knupp; Andrew J. Quantock
TAGS: collagen, cornea, mucopolysaccharidosis vii, proteoglycan, extracellular matrix, complex, fibril
Invest. Ophthalmol. Vis. Sci.. 2011; 52(9):6720-6728. doi: https://doi.org/10.1167/iovs.11-7377

Includes: Multimedia, Supplemental Content

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Whole genome sequencing and UMI-4C provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis -regulatory disease

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

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

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

Rare genetic causes of dominant optic atrophy

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

X-linked cone dystrophy and Blue Cone Monochromacy caused by novel and rare L/M opsin interchange haplotypes.

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).

Molecular genetic investigation of two distinct monogenic disorders with ocular involvement in a large consanguineous Roma family

Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution

Implications of retinal imaging for identification of Danon disease patients

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

Novel mutations causing CRB1 associated retinal degeneration in Czech patients and comparison of methods for mutation detection

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

Identification and segregation analysis of rare ZNF469 coding variants in familial Keratoconus

Large Proteoglycan Complexes and Disturbed Collagen Architecture in the Corneal Extracellular Matrix of Mucopolysaccharidosis Type VII (Sly Syndrome)

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