Publications by authors named "Alison Hardcastle"

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RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.
Leon Chang, James A Poulter, Andrew R Webster, Gavin Arno, Rajarshi Mukherjee, Alison J Hardcastle

Eur J Hum Genet· October 2025

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Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review.
Siyin Liu, Lynn Kandakji, Aleksander Stupnicki, Dayyanah Sumodhee, Marcello T Leucci, Alison J Hardcastle

Transl Vis Sci Technol· June 2025

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Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.
Nikolas Pontikos, William A Woof, Siying Lin, Biraja Ghoshal, Bernardo S Mendes, Alison J Hardcastle

Nat Mach Intell· June 2025

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A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.
Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, Karolina Kaminska, Katarina Jovanovic, Alison J Hardcastle

Hum Mol Genet· April 2025

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Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.
Siyin Liu, Amanda N Sadan, Nihar Bhattacharyya, Christina Zarouchlioti, Anita Szabo, Alison J Hardcastle

JAMA Ophthalmol· April 2025

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Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.
Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, Uirá Souto Melo, Joshua Jackson, Alison J Hardcastle

Am J Hum Genet· March 2025

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Alison J Hardcastle

medRxiv· January 2025

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Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.
Freddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, Beatriz Sanchez-Pintado, Marcos Costa, Alison J Hardcastle

Eur J Hum Genet· December 2024

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Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Christina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, Natalia Dominik, Nihar Bhattacharyya, Alison J Hardcastle

EBioMedicine· October 2024

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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
Suzanne E de Bruijn, Daan M Panneman, Nicole Weisschuh, Elizabeth L Cadena, Erica G M Boonen, Alison J Hardcastle

Front Genet· October 2024

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Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Samantha Malka, Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Alison J Hardcastle

Am J Hum Genet· September 2024

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RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.
Michalis Georgiou, Anthony G Robson, Sami H Uwaydat, Marco H Ji, Ahmed F Shakarchi, Alison J Hardcastle

Am J Ophthalmol· May 2024

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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Alison J Hardcastle

PLoS Genet· May 2024

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Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Siyin Liu, Amanda N Sadan, Kirithika Muthusamy, Christina Zarouchlioti, Jana Jedlickova, Alison J Hardcastle

Acta Ophthalmol· September 2023

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RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Michalis Georgiou, Anthony G Robson, Katarina Jovanovic, Thales A C de Guimarães, Naser Ali, Alison J Hardcastle

Ophthalmology· April 2023

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Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Samar Yahya, Claire E L Smith, James A Poulter, Martin McKibbin, Gavin Arno, Alison J Hardcastle

Ophthalmology· January 2023

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Foveal Cone Structure in Patients With Blue Cone Monochromacy.
Emily J Patterson, Angelos Kalitzeos, Thomas M Kane, Navjit Singh, Joseph Kreis, Alison J Hardcastle

Invest Ophthalmol Vis Sci· October 2022

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Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data.
Howard P Maile, Ji-Peng Olivia Li, Mary D Fortune, Patrick Royston, Marcello T Leucci, Alison J Hardcastle

Am J Ophthalmol· August 2022

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The landscape of submicroscopic structural variants at the gene cluster on Xq28 underlying blue cone monochromacy.
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V Cideciyan, Alison J Hardcastle

Proc Natl Acad Sci U S A· July 2022

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Novel disease-causing variants and phenotypic features of X-linked megalocornea.
Lubica Dudakova, Stephen Tuft, Sek-Shir Cheong, Pavlina Skalicka, Jana Jedlickova, Alison J Hardcastle

Acta Ophthalmol· June 2022

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Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review.
Howard Maile, Ji-Peng Olivia Li, Daniel Gore, Marcello Leucci, Padraig Mulholland, Alison Hardcastle

JMIR Med Inform· December 2021

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Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT.
Emily J Patterson, Christopher S Langlo, Michalis Georgiou, Angelos Kalitzeos, Mark E Pennesi, Alison J Hardcastle

Ophthalmol Sci· September 2021

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A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Alison J Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J McComish, Alice E Davidson

Commun Biol· March 2021

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Innate and Adaptive Gene Single Nucleotide Polymorphisms Associated With Susceptibility of Severe Inflammatory Complications in Acanthamoeba Keratitis.
Nicole A Carnt, Ignatius Pang, Kathryn P Burdon, Virginia Calder, John K Dart, Alison J Hardcastle

Invest Ophthalmol Vis Sci· March 2021

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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Suzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, Stephanie Fanucchi, Uirá S Melo, Alison J Hardcastle

Am J Hum Genet· November 2020

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