Valérie Cormier‐Daire

COBT is a gene-based rare variant burden test for case-only studies that outperforms existing methods and identifies novel candidate variants in rare diseases.

The paper identifies an ER pathway that regulates N-glycosylation by modulating OST-A activity, impacting cell-surface signaling and tissue development.

This study identifies TGFβ pathway dysregulation and cell senescence as key factors in CdLS mouse model, showing that inhibiting TGFβR prevents cardiac and growth defects.