Alison J. Hardcastle

This study uses human stem cell models to investigate IFT140 variants causing retinal dystrophy and identifies eupatilin as a potential therapeutic for cilia defects.

GIMMEcpg is a fast, scalable methylation imputation tool that improves accuracy and efficiency over existing methods, with a machine learning variant offering higher accuracy.

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

The paper uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.

This study identifies two pathogenic mechanisms, RNA toxicity and TCF4 isoform dysregulation, in Fuchs endothelial corneal dystrophy using patient-derived corneal endothelial cells and multi-omics analyses.

The paper uses optical genome mapping to analyze tissue-specific instability of the CTG18.1 triplet repeat in FECD, finding higher instability in corneal endothelial cells than in blood leukocytes.

This study uses iPSC-derived retinal organoids to model RP2 retinitis pigmentosa and shows that AAV-mediated gene augmentation can rescue photoreceptor degeneration.

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.