Ivana K. Kim

This study identifies 63 AMD risk loci across multiple ancestries, highlighting ancestry-dependent genetic heterogeneity and potential therapeutic targets.

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.

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 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.

The paper investigates the relationship between visual acuity and the percentage of foveal geographic atrophy in age-related macular degeneration, finding that foveal GA percentage is significantly associated with VA impairment.

The paper analyzes rare germline variation in cancer predisposing genes across cancer patients and controls to identify shared mutation properties and candidate susceptibility genes.