Alex William Hewitt

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

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

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.

The paper curates 271 MYOC variants in open-angle glaucoma patients using updated ClinGen guidelines, increasing definitive classifications and highlighting the need for functional evidence.

This study optimizes AAV serotypes and promoters to specifically target Muller glial cells in rats, identifying ShH10Y and GFAP promoter as the most effective combination for in vivo delivery.

The paper uses computational drug repurposing to identify N-acetylglucosamine as a potential therapy for CLN3 Batten disease, showing it reduces lipofuscin burden in cell models.

The paper uses iPSC-derived RPE cells to compare molecular differences between AMD with and without reticular pseudodrusen, identifying distinct pathways and genetic influences.

The paper examines sex differences in the immune system at the single-cell level, identifying sex-biased genes and eQTLs linked to autoimmune diseases.

This study optimizes AAV serotypes and promoters to specifically target Müller glial cells in rats, identifying ShH10Y and GFAP promoter as the most effective combination for in vivo delivery.

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 uses prime editing to correct a common TPP1 mutation in cultured cells and eVLPs, achieving on-target editing efficiencies of up to 27.36% and 12.6% in vivo.

The paper uses single-cell eQTL data to identify cell-type-specific effector genes associated with 69 diseases and 31 biomarker traits, revealing distinct immune cell contributions to disease.

The paper maps chromatin accessibility and genetic variation in immune cells, showing how integrating cell-type-specific data improves disease risk understanding.

This paper develops an RNA base editor using CRISPR-Cas13 and ADAR2DD to correct mutations in inherited retinal diseases, showing up to 60% editing efficiency in vitro and partial rescue in mouse models.

This paper uses long-read sequencing to simultaneously detect genetic variation and methylation, enabling phenotypic classification of inherited and acquired genetic diseases.

This study compares generative AI models for protein design, finding structural models produce more confident structures but less diversity, while language models generate more diverse proteins with lower structural confidence.

This study investigates how CLN3 mutations impair phagocytosis and cause photoreceptor degeneration in CLN3 disease using patient-derived cells and a miniswine model.

The paper uses Iso-Seq to discover novel isoform variants in human retinal cells at single-cell resolution, identifying thousands of new transcripts and differential splicing patterns.

The paper introduces MEOTIVE, a statistical framework to identify genetic effects on gene expression variability, revealing new mechanisms of genome regulation and associations with autoimmune disease risk.

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

This study uses spatial transcriptomics to analyze human retinoblastoma, revealing tumor heterogeneity, cell-cell communication networks, and key signaling pathways involved in tumor progression.

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

This study profiles genomic structural variation in Indigenous Australians using whole genome long-read sequencing, revealing abundant and previously unannotated variants and unique STR diversity.

The paper demonstrates that village cultures of hiPSCs maintain consistent transcriptional profiles across uni- and village-cultured samples, enabling population-scale studies.

This study shows that knocking out POLDIP2 in human RPE cells reduces mitochondrial superoxide levels, linking POLDIP2 to oxidative stress in AMD.

This study examines CLN3 disease using patient-derived cortical neurons, finding reduced electrophysiological activity and lysosomal alterations.