Jos G.A. Smits

The paper uses single-cell multi-modal analysis to identify molecular drivers of limbal stem cell differentiation from human PSCs, revealing key transcription factors and enhancers involved in lineage specification.

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

This paper integrates single-cell RNA-seq data to create a human corneal cell state meta-atlas and develops a machine learning tool to annotate cell states and identify key transcription factors.

The paper demonstrates that HiFi long-read sequencing can detect 93% of clinically relevant variants challenging to identify with short-read sequencing, using 30x coverage and showing potential for cost-effective diagnostic implementation.

This study uses scRNA-seq to analyze hPSC differentiation into corneal limbal stem cells, identifying nine clusters and four novel cell states, and provides markers for isolating pure LSC-like populations.

This paper generates and characterizes CRISPR-Cas9-mediated XPC gene knockout in human skin cells to model XP-C disease and study its phenotypes and molecular mechanisms.

The paper identifies transcription factor interplay in corneal epithelial fate determination and disease using multi-omics analyses of limbal stem cells and epidermal keratinocytes.