Thomas L. Edwards

This study uses adaptive nanopore sequencing to measure X inactivation skew in carrier females with X-linked retinal diseases, showing a strong correlation between skew and disease presentation.

This study shows that knocking out POLDIP2 in human RPE cells reduces mitochondrial superoxide levels, linking POLDIP2 to oxidative stress in AMD.

This study uses CRISPR interference to show that TMEM97 knockdown protects ARPE19 cells from oxidative stress-induced death, supporting its role in AMD pathobiology.

The paper identifies genetic variants associated with nanophthalmos in an Australian cohort, linking them to clinical features like axial length and hyperopia.