37 citations · 72 across the 5 of their papers we have counts for
3 papers · 1 filter
ProtoGestalt: Interpretable Prototypes for Facial Phenotyping and Diagnosis of Rare Genetic Disorders
Ranga Baminiwatte, Alexander Hustinx, Fabio Hellmann +1
Rare genetic disorders are difficult to diagnose due to their diversity and overlapping clinical features. Facial morphology can provide diagnostic clues, yet most diagnostic model…
Hierarchical Classification via Cascading Feature Elimination: Application to Human Phenotype Ontology-Aligned Facial Phenotyping (FaceMesh2HPO)
Fabio Hellmann, Alexander Hustinx, Benjamin D. Solomon +4
FaceMesh2HPO is a framework for classifying facial phenotypic descriptors aligned with the Human Phenotype Ontology (HPO) to support clinical diagnosis. Using annotations from 124…
Multi-Level Evidence Aggregation for Robust Facial Phenotype Retrieval in Rare Genetic Disorder Prioritization
Alexander Hustinx, Carolin Kaffiné, Behnam Javanmardi +2
AI-assisted facial phenotyping supports rare genetic disorder prioritization by retrieving visually similar diagnosed cases from facial image reference databases such as the Gestal…