Anthony P. Khawaja

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

This study combines monogenic and polygenic risk factors to predict disease progression in Fuchs endothelial corneal dystrophy, showing improved prediction when integrating both factors.

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 KALRN and TMCO1 as interdependent regulators of trabecular meshwork homeostasis and intraocular pressure, linking ER and calcium homeostasis to glaucoma pathogenesis.

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 introduces MR-Fish, a method using proteomics and Mendelian randomisation to identify causal relationships between proteins and diseases, finding causal links for several proteins associated with conditions like T2DM and CHD.

This paper introduces a deep learning framework, REGLE, that improves genomic discovery and risk prediction for respiratory and circulatory diseases by learning low-dimensional embeddings from high-dimensional clinical data.

This paper introduces M-REGLE, a multimodal deep learning method that improves genetic analysis of cardiovascular traits by integrating multiple clinical data modalities and outperforms unimodal approaches in locus discovery and risk prediction.

The paper identifies genetic variants associated with photoreceptor layer thickness using OCT data from UK Biobank, revealing a continuum between normal variation and rare disease.

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.