Profil bibliographique

Alison J. Hardcastle

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

270Publications signalées

9435Citations signalées

1Affiliations récentes

Institutions déclarées

Domaines associés

Retinal Development and DisordersCorneal surgery and disordersRetinal Diseases and TreatmentsGlaucoma and retinal disordersCorneal Surgery and Treatments

Publications récentes

Accès ouvert 2026 articleOpenAlex

Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification

Lara K. Holtes, Di Chen, Siobhan Guilfoyle, Harriet O'Leary et autres

0 citationsInvestigative Ophthalmology & Visual Science

2026 preprintOpenAlex

Pharmacological rescue of cilia trafficking defects in IFT140 retinal organoid and RPE models of retinal dystrophy

Julio C. Corral-Serrano, Yi Jiang, Nele Schwarz, Sara E. Nieuwenhuis et autres

0 citationsbioRxiv (Cold Spring Harbor Laboratory)

Accès ouvert 2026 articleOpenAlex

Influence of inflammatory and metabolic factors on keratoconus risk: a causal inference analysis

Pirro G. Hysi, Alison J. Hardcastle, Alice E. Davidson, Loretta Szczotka‐Flynn et autres

3 citationsEye

Accès ouvert 2026 articleOpenAlex

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et autres

14 citationsNature Genetics

Accès ouvert 2025 articleOpenAlex

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 et autres

1 citationEuropean Journal of Human Genetics

Accès ouvert 2025 articleOpenAlex

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene

Nikolas Pontikos, William Woof, Siying Lin, Biraja Ghoshal et autres

30 citationsNature Machine Intelligence

Accès ouvert 2025 reviewOpenAlex

Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review

Siyin Liu, Lynn Kandakji, Aleksander Stupnicki, Dayyanah Sumodhee et autres

3 citationsTranslational Vision Science & Technology

Accès ouvert 2025 preprintOpenAlex

GIMMEcpg: Global Imputation of Mean CpG MEthylation in Real-time

Ismail Moghul, Niuzheng Chai, Nikolas Pontikos, Alison J. Hardcastle et autres

2 citationsbioRxiv (Cold Spring Harbor Laboratory)

Accès ouvert 2025 articleOpenAlex

Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity

Siyin Liu, Amanda N. Sadan, Nihar Bhattacharyya, Christina Zarouchlioti et autres

14 citationsJAMA Ophthalmology

Accès ouvert 2025 articleOpenAlex

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 Kamińska et autres

7 citationsHuman Molecular Genetics

Accès ouvert 2025 articleOpenAlex

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7

Jessica C. Gardner, Katarina Jovanović, Uirá Souto Melo, Joshua Jackson et autres

9 citationsThe American Journal of Human Genetics

Accès ouvert 2025 preprintOpenAlex

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et autres

15 citationsmedRxiv

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