Author

P. Krawitz

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Preprint Oct 2026

FaceKit: a Toolkit for Interpretable Facial Phenotyping, Synthetic Image Generation and Privacy Analysis in Rare Diseases

Many rare genetic diseases are associated with recognizable craniofacial features. However, traditional approaches for describing facial morphology rely largely on qualitative clinical observation and free-text descriptions, which are often subjective, non-standardized, and difficult to reproduce across observers and i...

Hong-Zhuo Chen, Zhanliang Wang, Florent Pollet et al. · 0 citations

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

Open access Jul 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Variants in BRSK2, encoding brain specific kinase-2, have recently been associated with an autosomal dominant neurodevelopmental disorder (NDD). We have assembled 52 cases with heterozygous BRSK2 variants and variable neurodevelopmental phenotypes with frequent neuropsychiatric and behavioral symptoms. The variant spec...

Palak Singhal, Tzung-Chien Hsieh, Nadja Ehmke et al. · European Journal of Human Ge... · 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