Nathaniel K. Mullin

This study uses single-cell RNA sequencing to analyze MAC-bound cells in human choroid, revealing patterns of complement deposition and regulator expression in AMD.

The paper identifies expression changes in AMD risk genes using single-cell eQTL analysis across AMD stages and tissues.

This paper describes a method to isolate photoreceptor cells from retinal organoids without specialized equipment, using standard lab materials for potential clinical applications.

The paper identifies a splice defect caused by the NR2E3 c.932G>A variant in retinal disease, challenging previous assumptions about its molecular mechanism.

This study uses spatial transcriptomics to analyze gene expression in a human choroidal neovascular membrane and identifies dysregulated genes and potential upstream regulators.

This study uses human retinal organoids to show that loss of NR2E3 disrupts rod photoreceptor maturation, leading to a fate switch to cone-like cells.

The paper uses multimodal single-cell sequencing to show non-random distribution of a pathogenic mtDNA variant in retinal cells of a MELAS patient.