Margaret M. DeAngelis

The paper constructs a multi-omics single-cell atlas of human RPE and choroid, identifying cell types, aging patterns, and genetic risk factors for AMD.

OAK enables ultra-high throughput single-cell multiomic profiling with high sensitivity and reduced labor, demonstrating its utility in detecting rare resistant cell populations.

This study identifies differentially expressed genes and allele-specific expression in macular tissues across AMD stages, highlighting the RPE/choroid's role in disease pathophysiology.

The paper creates a comprehensive human retina cell atlas using single-cell multi-omics data, revealing over 110 cell types and their gene regulatory networks, and enables fine-mapping of GWAS and eQTL variants.

DeMixSC improves deconvolution accuracy by using single-cell RNA-seq and a benchmark dataset to account for technological discrepancies in complex tissue samples.

This paper presents a comprehensive single-cell multi-omics atlas of the human retina, integrating RNA-seq and ATAC-seq data to identify cell-type-specific cis-element-gene relationships and transcription factor regulons.

The paper identifies cell type-specific genetic effects on gene regulation in human retina using single-cell multiomics data and finds that trans-factors, not cis-elements, drive these effects.

The paper investigates harmonin expression and localization in human retinas to understand USH1C pathophysiology and potential gene therapy approaches.

This study uses single-nuclei RNA-seq to profile human retinal tissue, identifying cell-type-specific gene expression and improving disease gene prioritization compared to bulk RNA-seq and mouse models.