Chloë M. Stanton

The paper shows that disease-associated variants in alternative protein isoforms can cause structural mutations, emphasizing the need to consider tissue-specific expression and full-length transcripts in variant interpretation.

This study identifies 63 AMD risk loci across multiple ancestries, highlighting ancestry-dependent genetic heterogeneity and potential therapeutic targets.

This paper creates a mouse model of Brittle Cornea Syndrome to study the molecular mechanisms of corneal thinning and its pathogenic effects.