Paul J. Coucke

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.

This study shows that loss of atp6v1e1b in zebrafish causes multisystemic defects linked to reduced organelle acidification, revealing new biological impacts of v-ATPase dysfunction.

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 identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

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