Andy Willaert

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.

The paper identifies ultraconserved cis-regulatory elements in the human retina linked to rare eye diseases through multi-omics analysis and genomic variant mining.

This study shows that b3galt6 knock-out zebrafish exhibit human β3GalT6-deficiency disorders, revealing a novel proteoglycan linkage region mechanism.

This study generates a novel mouse model of arterial tortuosity syndrome by knocking out Slc2a10 and Gulo, revealing mitochondrial respiration defects and compromised extracellular matrix formation.

This paper identifies spatial phenotypic patterns in zebrafish somatic mutants using deep phenotyping and statistical frameworks to improve discrimination of mutant populations.

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.

This study uses microCT to analyze zebrafish skeletons, identifying phenotypes linked to human diseases and showing how deep phenotyping improves mutant discrimination.