Bert Louis Callewaert

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

Evaluating Variants of Uncertain Significance in Adult Knock-in Zebrafish: A Proof of Concept with a COL1A2 Variant

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.

Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish

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.

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment

The paper identifies a regulatory region affecting FOXG1 transcription in neurodevelopment through structural variants and chromatin analysis.

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

This study uses long-read sequencing and optical genome mapping to fully characterize unresolved structural variants, achieving single-basepair resolution and improving diagnostic yield.

Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture

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.

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

Loss of a subunit of vacuolar ATPase identifies unexpected biological signatures of reduced organelle acidification in vivo

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.

SLC2A knockout mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

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.