Alison J. Hardcastle
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 90 publications
Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.
Journal: Investigative ophthalmology & visual science
Published: August 03, 2026
Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review.
Journal: Translational vision science & technology
Published: June 06, 2025
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.
Journal: European journal of human genetics : EJHG
Published: June 04, 2025
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.
Journal: JAMA ophthalmology
Published: March 13, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
Influence of inflammatory and metabolic factors on keratoconus risk: a causal inference analysis.
Journal: Eye (London, England)
Published: December 23, 2024
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.
Journal: Human molecular genetics
Published: October 25, 2024
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.
Journal: American journal of human genetics
Published: October 15, 2024
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.
Journal: Nature machine intelligence
Published: September 09, 2024
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
Journal: Frontiers in genetics
Published: July 24, 2024
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.
Journal: European journal of human genetics : EJHG
Published: June 26, 2024
Last Updated: 09/26/2026