AI-assisted facial phenotyping supports rare genetic disorder prioritization by retrieving visually similar diagnosed cases from facial image reference databases such as the GestaltMatcher Database (GMDB). Existing GestaltMatcher-based retrieval frameworks compare each test image with individual gallery images in a facial phenotype embedding space.
arXiv:2608. 08926v1 Announce Type: new Abstract: Neuroimaging and genetic testing are two important clinical references for nervous system diseases, offering complementary diagnostic information.
By Tianli Tao, Ziyang Wang, Emma Robinson, Rachel Sparks, Le Zhang
arXiv:2606. 20037v1 Announce Type: new Abstract: Alzheimer's disease (AD) is an irreversible neurodegenerative disorder and a leading cause of death worldwide.
By Loukas Ilias, Anthi-Maria Vozinaki, Christos Ntanos, Dimitris Askounis
arXiv:2607. 05585v1 Announce Type: cross Abstract: FaceMesh2HPO is a framework for classifying facial phenotypic descriptors aligned with the Human Phenotype Ontology (HPO) to support clinical diagnosis.
By Fabio Hellmann, Alexander Hustinx, Benjamin D. Solomon, GestaltMatcher Database Consortium, Tzung-Chien Hsieh, Peter Krawitz, Elisabeth Andr\'e
arXiv:2606. 11794v1 Announce Type: cross Abstract: Neurodegenerative diseases such as Alzheimer's disease (AD) require accurate and scalable tools for assessing disease severity, yet current clinical staging remains time-intensive and prone to variability.
By Boris-Stephan Rauchmann, Jonathan Laib, Buse Ercik, Robert Perneczky, Sergio Altares-L\'opez
arXiv:2605. 18419v2 Announce Type: replace-cross Abstract: Vision-language models (VLMs) can couple visual perception with open-ended clinical reasoning, making them attractive for computational histopathology.
By Franciskus Xaverius Erick, Johanna Paula M\"uller, Bernhard Kainz