David Anthony Mackey

The paper uses AI-derived retinal thickness phenotypes from 2D images to identify novel genetic loci for neurodegenerative diseases.

This paper identifies 24 risk loci for corneal dystrophy, constructs polygenic risk scores (PRS) and STR-based models, and shows PRS improves FECD prediction, while STR expansion is the strongest predictor.

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 conducts a large-scale GWAS meta-analysis of nevus count, identifying 29 new loci and highlighting immune-related pathways relevant to melanoma risk.

This study performs genome-wide association meta-analyses on optic nerve structure biomarkers, identifying novel loci and potential drug targets independent of intraocular pressure.

This paper develops a polygenic risk score for glaucoma with improved performance across major ancestries, enabling earlier detection and targeted treatment of high-risk individuals.

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

The paper uses AI to identify genes associated with intraocular pressure by analyzing morphological changes in trabecular meshwork cells after gene knockouts.

This study uses gene knockouts and single-cell RNA sequencing to identify genetic networks contributing to elevated intraocular pressure in glaucoma.

This study surveys unaffected individuals' attitudes toward glaucoma polygenic risk testing and identifies factors associated with interest in the test.

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

This study identifies genetic and molecular differences in RPE cells from geographic atrophy patients compared to controls using transcriptomic and proteomic analyses.

This study uses iPSC-derived retinal organoids to identify retinal ganglion cell-specific expression quantitative trait loci associated with primary open-angle glaucoma.

The paper identifies 46 genetic loci associated with retinal thickness using OCT images from UK Biobank, finding new links to foveal hypoplasia and visual acuity.

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.

This study identifies transcriptomic biomarkers in CD4+ and CD8+ T cells from GCA patients over 12 months, revealing gene-phenotype associations and potential prognostic indicators.