Sangbae Kim

To be or not to be - Decoding the Trabecular Meshwork Cell Identity

This study performs single-cell RNA sequencing on primary human trabecular meshwork cells in vitro to compare gene expression with in situ tissue, providing a public resource for studying cellular identity and translatability.

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2

The paper shows SOX7 deficiency causes ventricular septal defects by impairing endocardial-to-mesenchymal transition through reduced Wnt4 and Bmp2 expression in developing atrioventricular canals.

iGWAS: image-based genome-wide association of self-supervised deep phenotyping of human medical images

The paper introduces iGWAS, a method using self-supervised deep learning to extract phenotypes from medical images for GWAS, finding new genetic loci related to retinal vessel development.

Unbiased integration of single cell multi-omics data

bindSC integrates single-cell multi-omics data accurately by aligning rows and columns without approximations, outperforming existing methods in various biological contexts.

A unique and evolutionarily conserved retinal interneuron relays rod and cone input to the inner plexiform layer

The paper identifies a new retinal interneuron type, the Campana cell, that integrates rod and cone input and has features of both bipolar and amacrine cells.

Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling.

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.

Epigenetic adaptation prolongs photoreceptor survival during retinal degeneration

The paper shows that epigenetic changes allow some photoreceptor cells to survive longer during retinal degeneration in Spata7 mutant mice.