Philippe M. Campeau

This paper identifies population-scale SNV targets for allele-specific ASO therapy design, achieving high coverage across diverse ancestry groups and supporting clinical relevance.

The paper validates a DNA methylation episignature for VACTERL and finds evidence of epigenomic convergence across related embryonic malformation conditions.

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

The paper estimates an elevated birth prevalence of Fraser syndrome in Quebec's French-Canadian population and identifies a founder pathogenic variant.

The paper identifies enriched coding variants in a French-Canadian founder population and explores their association with inflammatory bowel diseases.

This study shows CHD3 regulates BMP signaling during cranial neural crest cell specification by modulating chromatin accessibility and gene expression.

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

This paper investigates how fibronectin mutations impair chondrogenesis in skeletal dysplasia by disrupting protein secretion and causing cellular stress in mesenchymal stem cells.

This study shows TBC1D24 regulates mitochondrial structure, activity, and ER-mitochondria contact sites, contributing to neurological disorders.

This study investigates the role of fibronectin isoforms in postnatal skeletal development using knockout mice, finding that combined deletion of both isoforms leads to skeletal defects and altered chondrogenesis.

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.

The paper shows EthN-P on Man2 is the preferential bridge for GPI-AP attachment, challenging the current view of GPI anchoring and explaining PIGG deficiency mechanisms.

The paper shows that minor and major spliceosomes interact to regulate alternative splicing around minor introns, linking this interaction to disease pathogenesis.

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.