Frank G. van Steenbeek

CardioShift resolves cell-to-cell functional heterogeneity in hiPSC-derived cardiomyocytes by accounting for nested variance, revealing hidden subpopulations and condition-dependent phenotypes.

This paper outlines a protocol to identify genetic variants associated with portopulmonary hypertension in congenital portosystemic shunt patients using whole-genome sequencing and family-based analyses.

This study develops bioengineered liver tissues using multiple cell types and synthetic hydrogels, showing improved structure, function, and maturation.

This study assesses the reproducibility of pathogenicity classification using the animal variant classification guidelines across three species, finding 65% reproducibility for pathogenicity and 83% clinically relevant agreement.

This paper develops a liver organoid-on-a-chip model using hollow fiber membranes to study drug metabolism and transport, showing improved hepatocyte-like maturation and functional drug processing.

This study uses a genotype-first approach to identify new mutations related to craniofacial morphology and stature in dogs, highlighting the role of allelic heterogeneity in breed trait selection.

This paper develops and validates variant classification guidelines for animals, improving the accuracy of pathogenicity assessment in cats and eight other species.

The paper investigates epigenetic and transcriptional changes in PLN R14del cardiomyopathy, identifying disrupted lipid metabolism and altered gene regulation.