Louis Robert Pasquale

Genetic discovery using deep learning-derived optic nerve integrity phenotypes

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

Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses

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

Step change in glaucoma polygenic risk score performance enables clinical utility and disease prediction across all major ancestries

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.

Pyruvate and Related Energetic Metabolites Modulate Resilience Against High Genetic Risk for Glaucoma

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

Network-based representation learning enables the identification of risk genes and latent functional pathways in primary open-angle glaucoma

The paper uses network-based representation learning to identify risk genes and functional pathways in primary open-angle glaucoma using protein-protein interaction networks and gene embeddings.

Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

Association between Cognitive Function and Large Optic Nerve Cupping, Accounting for Cup-Disc-Ratio Genetic Risk Score

The paper examines if a genetic risk score for cup-to-disc ratio modifies the link between large CDR and cognitive function in women, finding that large CDR is still associated with lower cognitive scores even after accounting for genetic risk.

Distribution of rare LOXL1 missense alleles, haplotypes and diplotypes suggests association with reduced risk of glaucoma-related exfoliation syndrome.

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

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank Optical Coherence Tomography images

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.

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer's disease