Cenna Doornbos

The paper identifies major sources of variability in iPSC-derived neurons and shows how correcting these improves disease signature detection.

The paper uses GSEA and WGCNA to identify dysregulated pathways in Porto-sinusoidal vascular disease, revealing immune, signaling, and metabolic dysfunctions.

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

The paper integrates multi-omics data from CAKUT patients to identify collagen's role in disease development and provides containerized workflows for analysis.