Robert F. Mullins

Transcriptomic Characterization of Terminal Complement Complex-bound Cells in Human Choroid Using Single-Cell RNA Sequencing

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.

Development of a Targeted Choroidal Injury Model for the Study of Retinal Degenerations and Therapeutic Cell Replacement

This paper develops a targeted choroidal injury model in rats using saporin-conjugated antibodies and compares it to systemic sodium iodate administration, showing localized injury with fewer side effects.

Single-cell quantitative trait loci analyses identify expression changes in macular degeneration risk genes

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

Mitfa-Independent Melanocyte Progenitors are Highly Susceptible to GNAQ-induced Uveal Melanoma in Adult Zebrafish

This study shows that Mitfa-independent melanocyte progenitors in zebrafish are more susceptible to GNAQ-induced uveal melanoma than differentiated melanocytes.

Using Patient iPSC-derived Retinal Pigment Epithelial Cells to Evaluate Differential Susceptibility to MEK Inhibitor-Associated Retinopathy

The paper compares MEK inhibitor effects on iPSC-derived RPE cells from patients with and without MEKAR, finding differential gene expression and phagocytic activity.

Metabolic Analysis of Human Retinal Pigment Epithelium and Choroid Tissue in Aging and Macular Degeneration

This study analyzes metabolites in human retinal pigment epithelium and choroid tissue across aging and macular degeneration stages, identifying key metabolic changes associated with aging.

Acriflavine delivery via Polyurethane nanocapsules to treat neovascular age-related macular degeneration

This study evaluates polyurethane nanocapsules delivering Acriflavine for treating CNVM in a rat model, showing reduced CNVM size and incidence compared to controls.

Production of clinical grade patient iPSC-derived 3D retinal organoids containing transplantable photoreceptor cells

This study develops a xeno-free 3D retinal differentiation protocol for iPSCs to generate transplantable photoreceptor cells in a cGMP-compliant manner.

Modeling MEK inhibitor-Associated Retinopathy in vitro using human induced pluripotent stem cell-derived retinal pigment epithelial cells

This study investigates the effects of MEK inhibitor selumetinib on hiPSC-derived RPE cells, finding increased internalization of rod outer segments and decreased aquaporin 1 expression, suggesting a mechanism for MEKAR.

Device-free isolation of photoreceptor cells from patient iPSC-derived retinal organoids

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

Sialoglycoconjugate Profiling of Human Choroid, Retinal Pigment Epithelium, and Macular Degeneration Related Lesions

This study examines sialoglycoconjugates in human choroid and macular degeneration lesions using lectins to identify sialic acid types and their distribution.

Exonic splice variant discovery using in vitro models of inherited retinal disease

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

Development of self-healing hydrogels to support choroidal endothelial cell transplantation for the treatment of early age related macular degeneration

This paper develops self-healing hydrogels to support choroidal endothelial cell transplantation in a rat model, showing improved cell retention compared to cell suspensions.

GENE EXPRESSION WITHIN A HUMAN CHOROIDAL NEOVASCULAR MEMBRANE USING SPATIAL TRANSCRIPTOMICS

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

Loss of NR2E3 disrupts rod photoreceptor cell maturation causing a fate switch late in human retinal development.

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.

Multimodal single-cell analysis of non-random heteroplasmy distribution in human retinal mitochondrial disease

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

Genetic modifiers of Cep290-mediated retinal degeneration

The paper identifies genetic modifiers of CEP290-mediated retinal degeneration in mice using QTL analysis and genetic crosses.