Nadja Ehmke

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.

VarFish is a web application for variant analysis in rare disease genetics, offering quality control, filtering, annotation, and collaboration tools for diagnostic and research use.

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.

The paper reports a new clinical syndrome linked to ACTB mutations, characterized by thrombocytopenia, microcephaly, and developmental disability, and identifies altered cytoskeletal interactions in affected cells.