David J. Green

The paper investigates how variants in OCA2 exon 10 affect splicing and pigmentation, showing that some variants increase exon skipping and contribute to hypopigmentation.

The paper evaluates and optimizes computational tools for predicting the pathogenicity of PAX6 missense variants, finding that AlphaMissense performs best with an optimized threshold.

The paper investigates the combined effect of TYR and OCA2 variants on albinism risk and finds synergistic effects increasing diagnosis odds.

The paper investigates the role of common regulatory and protein-coding TYR variants in albinism, finding a high-frequency promoter variant modulates penetrance of a missense change and a haplotype associated with increased albinism risk.

The paper investigates the association between gene expression variability and incomplete penetrance in inherited eye disorders using genomic and transcriptomic data.