Alison J. Hardcastle

Moorfields Eye Hospital NHS Foundation Trust — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

52h-index9.0kcitations266works5.62yr avg
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Research Topics

Retinal Development and Disorders(96), Corneal surgery and disorders(63), Retinal Diseases and Treatments(56), Glaucoma and retinal disorders(42), Corneal Surgery and Treatments(40)

Publications259 total

RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa
European Journal of Human Genetics·2025· 1 citedOpen Access
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
Nature Machine Intelligence·2025· 15 citedOpen Access
Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review
Translational Vision Science & Technology·2025· 3 citedOpen Access
GIMMEcpg: Global Imputation of Mean CpG MEthylation in Real-time
2025· 1 citedOpen Access
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity
JAMA Ophthalmology·2025· 9 citedOpen Access
A novel recurrent <i>ARL3</i> variant c.209G &amp;gt; A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
Human Molecular Genetics·2025· 3 citedOpen Access
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
The American Journal of Human Genetics·2025· 3 citedOpen Access
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
2025· 13 citedOpen Access
Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology
Nature Communications·2025· 9 citedOpen Access
Current applications of artificial intelligence for Fuchs endothelial corneal dystrophy: a systematic review
2024Open Access
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach
Frontiers in Genetics·2024· 2 citedOpen Access
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity
2024Open Access
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping
EBioMedicine·2024· 15 citedOpen Access
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
The American Journal of Human Genetics·2024· 5 citedOpen Access
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
European Journal of Human Genetics·2024· 3 citedOpen Access
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
2024Open Access
The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population
Ophthalmology Glaucoma·2024· 5 citedOpen Access
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease
PLoS Genetics·2024· 12 citedOpen Access
Convolutional neural network-based classification of glaucoma using optic radiation tissue properties
Communications Medicine·2024· 16 citedOpen Access
Tissue-Specific Dynamics of <i>TCF4</i> Triplet Repeat Instability Revealed by Optical Genome Mapping
2024· 2 citedOpen Access
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Frequent Co-authors

Michael E. Cheetham(23), Michel Michaelides(18), Stephen J. Tuft(12), Nikolas Pontikos(11), Alice E. Davidson(11), Anthony T. Moore(10), Andrew R. Webster(9), Neil D. Ebenezer(9), Petra Lišková(9), Pirro G. Hysi(8), Nele Schwarz(8), Naheed Kanuga(8), Anthony P. Khawaja(7), Shomi S. Bhattacharya(7), Graeme C. Black(6), Paul J. Foster(6), Christopher J. Hammond(6), Martin McKibbin(6), Gavin Arno(6), Graham E. Holder(6)