Hanna De Saffel

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 compares CRISPR-mediated homology-directed repair (HDR) and prime editing (PE) for precise genetic variant knock-in in zebrafish, finding PE achieves higher editing efficiency and fewer off-target effects.

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.

This study develops a zebrafish model of thoracic aortic dissection and rupture by knocking out SMAD3 and SMAD6 genes, revealing novel pathways and potential therapeutic targets.

This study shows zebrafish mutants with type I collagen mutations closely mimic human collagenopathies, revealing phenotypic variability linked to disease severity and potential for identifying genetic modifiers.