Pirro G. Hysi

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

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 study identifies 123 genome-wide significant loci associated with foveal pit depth, revealing new biological pathways and genes involved in human foveal development.

This study uses Mendelian randomisation to identify causal metabolome-wide effects on psychiatric and neurodegenerative disorders, finding 85 significant associations and shared genetic variants.

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 uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.

The paper investigates sex-specific genetic associations with vitamin C-related metabolites and identifies significant gene-sex interactions.

This study identifies 54 new genetic risk loci for cataract through a multiethnic GWAS meta-analysis and finds sex-specific effects and gene expression relevance in mouse models.

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 age-related DNA hypermethylation at specific human tRNA gene loci using DNA methylome data from peripheral blood.

The paper identifies SNPs with sex-specific effects on lung function traits using UK Biobank data, finding a significant interaction at rs7697189 near HHIP.

This study identifies 24 genetic loci associated with facial shape variation in humans through GWAS and confirms 13 of them in a multi-ethnic cohort.

The paper reports a detailed genetic and genomic map of multiple sclerosis, identifying susceptibility genes in peripheral immune cells and brain-resident microglia.

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.

The paper shows that most genetic variants associated with refractive error exhibit non-uniform effect sizes, suggesting widespread gene-gene or gene-environment interactions.

The paper identifies low-frequency coding variants contributing to multiple sclerosis risk using a large case-control study.

The paper identifies three genetic variants with notable effects on facial profiles and eyes using twin data and 3D facial imaging.