#AI #FacialAnalysis #VascularEhlersDanlosSyndrome

30 vEDS @MACAorta
21 hEDS
597 #ChicagoFaceDatabase

#Phenoscore QMagFace (once working on #MarfanSyndrome + other #RareGeneticDiseases)
LIME for feature interpretation

#GIMO 2025
www.sciencedirect.com/science/arti...

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1111/...