Béatrice Jaspard‐Vinassa

This study identifies TRIM47 as a genetic determinant of cerebral small vessel disease, showing it regulates brain homeostasis through the NRF2 antioxidant pathway by stabilizing NRF2 protein levels.

This study identifies ENG 5UTR variants altering upstream ORFs that reduce Endoglin levels and links uPAR pathway loci to soluble Endoglin levels through proteogenomics and functional assays.

This paper identifies two novel 5UTR ENG variants in HHT patients that create uAUGs, leading to uoORFs and reduced ENG protein levels and function.

MORFEE identifies and annotates single nucleotide variants in 5UTR regions that create upstream open reading frames (uORFs) from VCF files, aiding in interpreting genetic association signals and disease mechanisms.