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This paper is in the following e-collection/theme issue:

Generative Language Models Including ChatGPT (1467) Clinical Information and Decision Making (3630) Artificial Intelligence (4658) Computer-Aided Diagnosis (415) AI Language Models in Health Care (721) Responsible Health AI (218)

Published on in Vol 27 (2025)

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/77334, first published .
Medical professionals reviewing patient data on computer screens in a modern clinic

Performance of Large Language Models in Diagnosing Rare Hematologic Diseases and the Impact of Their Diagnostic Outputs on Physicians: Combined Retrospective and Prospective Study

Performance of Large Language Models in Diagnosing Rare Hematologic Diseases and the Impact of Their Diagnostic Outputs on Physicians: Combined Retrospective and Prospective Study

Authors of this article:

Hongbin Yu1 Author Orcid Image ;   Tian Chen1 Author Orcid Image ;   Xin Zhang1 Author Orcid Image ;   Yunfan Yang1 Author Orcid Image ;   Qinyu Liu1 Author Orcid Image ;   Chenlu Yang1 Author Orcid Image ;   Kai Shen1 Author Orcid Image ;   He Li1 Author Orcid Image ;   Wenjiao Tang1 Author Orcid Image ;   Xushu Zhong1 Author Orcid Image ;   Xiao Shuai1 Author Orcid Image ;   Xinmei Yu1 Author Orcid Image ;   Yi Liao1 Author Orcid Image ;   Chiyi Wang1 Author Orcid Image ;   Huanling Zhu1 Author Orcid Image ;   Yu Wu1 Author Orcid Image
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Journals

  1. Pantel J, Hübel K, Fluch-Niebuhr J, Hentrich M, Liedgens P, Hermeneit S, Lipp T, Maoz D, Kirchhoff J, Mücke M, Dalhaus L, Rott U, van Rooij N. Früherkennung seltener Erkrankungen mit künstlicher Intelligenz. Zeitschrift für Allgemeinmedizin 2026;102(2):86 View
  2. Awan S, Khattak M, Khan A, Sathio A, Alsayaydeh J, Bacarra R, Herawan S, Aziz R. Meta-analysis of large language models: benchmarking DeepSeek-R1 against ChatGPT, Gemini, Qwen, and LLaMA. Journal of Big Data 2025;13(1) View
  3. Scott I. Can AI assist in reducing diagnostic error? A narrative review. Diagnosis 2026 View
  4. Li T, Ma Z, Wang B, Fan N, Wang A, Zang L. Diagnostic Performance of Large Language Models for Orthopedic-Related Rare Diseases and Their Impact on Physicians’ Diagnostic Accuracy: 2-Stage Comparative Evaluation Study Based on the Chinese Rare Disease Catalog. Journal of Medical Internet Research 2026;28:e92931 View