AH
Alison J. Hardcastle

Elite Scholar

328
Works
9,958
Citations
55
H-Index
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Alison J. Hardcastle

Also known as: A HARDCASTLE, A J Hardcastle, A. Hardcastle, A. J Hardcastle, A. J. HARDCASTLE

328

Total Works

9,958

Citations

55

H-Index

148

i10-Index

Citation & Works Trend by Year
36 years active
Top Research Topics
Retinal Development and Disorders (187) Retinal Diseases and Treatments (76) Genetic and Kidney Cyst Diseases (69) Genomics and Rare Diseases (68) Ocular Disorders and Treatments (63)
Recent Publications
15 shown
Year Publication Title Citations Action
2026 Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification Investigative Ophthalmology & Visual Science 0
2026 Pharmacological rescue of cilia trafficking defects in IFT140 retinal organoid and RPE models of retinal dystrophy bioRxiv (Cold Spring Harbor Laboratory) 0
2026 Nonuniform Association of Genetic Risk Scores for Intraocular Pressure JAMA Ophthalmology 0
2026 Fuchs Endothelial Corneal Dystrophy: Genetic, Demographic And Phenotypic Correlations ESCRS Abstracts 0
2026 Influence of inflammatory and metabolic factors on keratoconus risk: a causal inference analysis Eye 3
2026 De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa Nature Genetics 16
2025 RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa European Journal of Human Genetics 1
2025 Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene Nature Machine Intelligence 35
2025 Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review Translational Vision Science & Technology 5
2025 GIMMEcpg: Global Imputation of Mean CpG MEthylation in Real-time bioRxiv (Cold Spring Harbor Laboratory) 2
2025 Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity JAMA Ophthalmology 14
2025 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 Human Molecular Genetics 7
2025 Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7 The American Journal of Human Genetics 10
2025 De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa medRxiv 15
2025 Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology Nature Communications 22

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