Alison J Hardcastle

11PUBLICATIONS
246CO-AUTHORS
Environmental epidemiologySensory systemsEpigenetics (incl. genome methylation and epigenomics)Genetic immunologyNeurology and neuromuscular diseases
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Publications (11)

|Feb 19, 2026
Influence of inflammatory and metabolic factors on keratoconus risk: a causal inference analysis.

Pirro G Hysi, Alison J Hardcastle, Alice E Davidson

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Oct 23, 2025
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.

Leon Chang, James A Poulter, Andrew R Webster

|Jun 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.

Nikolas Pontikos, William A Woof, Siying Lin

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Aug 21, 2024
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.

Freddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya

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