Author

Alexander Hustinx

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Preprint Aug 2026

Multi-Level Evidence Aggregation for Robust Facial Phenotype Retrieval in Rare Genetic Disorder Prioritization

Inference-time aggregation can improve next-generation facial phenotype retrieval without retraining the encoder, supporting a shift from isolated single-image matching toward multi-level aggregation of patient and disorder evidence for rare-disorder prioritization.

Alexander Hustinx, Carolin Kaffiné, Behnam Javanmardi et al. · 0 citations

#artificial intelligence Preprint Jul 2026

Hierarchical Classification via Cascading Feature Elimination: Application to Human Phenotype Ontology-Aligned Facial Phenotyping (FaceMesh2HPO)

Results demonstrate that hierarchical modeling of 3D facial geometry enables interpretable, ontology-linked phenotype classification, though performance on rare leaf terms remains limited.

F. Hellmann, Alexander Hustinx, Benjamin D. Solomon et al. · 0 citations