Janey L. Wiggs

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

The paper identifies two non-coding structural variants associated with Axenfeld-Rieger Syndrome, showing how enhancer disruption can cause disease without affecting the PITX2 gene itself.

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 glucocorticoid-induced transcriptomic changes in human trabecular meshwork and Schlemm's canal cells using RNA-seq, finding genes associated with glaucoma and intraocular pressure.

The paper identifies a metabolomic signature of resilience to glaucoma in high-risk individuals and validates pyruvate's protective role in a mouse model.

The paper identifies rare SMPD1 variants in Asian populations that increase Parkinson's disease risk through exome sequencing and functional assays.

The paper identifies rare protective LOXL1 missense variants and shows their haplotypes and diplotypes are associated with reduced risk of exfoliation syndrome and 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.

This study identifies a genomic locus on Chromosome 18 associated with retinal ganglion cell loss in a mouse glaucoma model.

The paper identifies a genomic locus modulating corneal thickness in mice and links it to POU6F2, a potential risk factor for glaucoma.