Stuart MacGregor

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

This study identifies shared genetic factors between brain iron deposition and Alzheimer's disease, revealing a polygenic basis and potential neuroimmune mechanisms.

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.

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 analyzes 26 years of abstracts from two major human genetics conferences to identify geographic disparities in researcher representation and oral presentation success.

This study identifies key considerations for accrediting polygenic risk score testing through stakeholder consultations and proposes checklists for quality assessment.

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

This study identifies ancestry-specific and sex-specific genetic loci for primary open-angle glaucoma through a meta-analysis of 15 biobanks, highlighting shared biology with vascular mechanisms and cell proliferation.

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

This study identifies 49 genetic loci associated with sleep apnoea risk using multi-trait GWAS, with 29 replicated in a large cohort, and finds genetic correlations with several complex traits.

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

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 novel genetic risk loci for depression and anxiety using factor analysis and genomic SEM, revealing shared and trait-specific genetic influences.

The paper uses AI to label optic nerve head images, enabling cross-ancestry genetic studies and identifying over 200 new loci associated with glaucoma risk.

This study assesses polygenicity and risk prediction using common variants across 14 cancers, finding varying numbers of susceptibility variants and risk score effectiveness.

This study performs item-level genetic analyses of the PHQ-9 to explore genetic heterogeneity in major depression, identifying novel loci and revealing distinct genetic correlations across symptoms.

This study uses Mendelian randomization to find a causal link between major depression and alcohol dependence using large genetic datasets.

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

The paper identifies cell-type specific eQTLs in primary melanocytes, revealing novel melanoma susceptibility genes and associations with GWAS loci.

This study identifies 13 novel genetic loci associated with endometriosis through a large GWAS meta-analysis and finds genetic links to other pain-related conditions.

The paper finds a genetic association between schizophrenia risk and urban living, suggesting genetic factors influence migration to densely populated areas.

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

This study identifies 4 new risk loci for cannabis use through GWAS, finds genetic overlap with mental health, and shows a causal link between schizophrenia and cannabis use.