Kathryn P. Burdon

The paper benchmarks structural variant analysis tools on short-read WGS data, finding that ensemble pipelines significantly reduce accuracy compared to individual tools.

The paper curates 271 MYOC variants in open-angle glaucoma patients using updated ClinGen guidelines, increasing definitive classifications and highlighting the need for functional evidence.

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

The paper adapts ACMG/AMP variant curation guidelines for the myocilin gene, leading to changes in variant classification for 38% of tested variants.

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

The paper identifies biallelic CPAMD8 variants as a cause of congenital glaucoma with anterior segment dysgenesis in four individuals from three families.

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

The paper identifies a partial duplication of the CRYBB1-CRYBA4 locus as a cause of autosomal dominant congenital cataract through copy number variant analysis in a pedigree.