Sophie Debaenst

This study evaluates a COL1A2 variant of uncertain significance using zebrafish knock-in models, showing that pathogenic variants cause skeletal abnormalities while VUS and benign variants do not.

This study uses zebrafish models to link genetic mutations in type I collagen to phenotypic severity in OI, identifying biomarkers and mechanisms of variability.

This study uses zebrafish crispant screening to functionally validate disease-causing genes for bone fragility disorders, showing consistent skeletal phenotypes and differential gene expression in affected models.