Accuracy of Large Language Models in Generating Rare Disease Differential Diagnosis Using Key Clinical Features. - Cathy Shyr; Rory J. Tinker; Paul A. Harris; Alex C. Cheng; Kevin W. Byram; Lisa Bastarache; Josh F. Peterson; Rizwan Hamid; Hua Xu 001; Thomas Cassini (MedInfo, 2025)

An artificial intelligence framework for end-to-end rare disease phenotyping from clinical notes using large language models. - Cathy Shyr; Yan Hu; Rory J. Tinker; Thomas Cassini; Kevin W. Byram; Rizwan Hamid; Daniel Fabbri; Adam Wright; Josh F. Peterson; Lisa Bastarache; Hua Xu 001 (CoRR, 2026)