Published on in Vol 10 (2024)

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/51391, first published .
Learning to Make Rare and Complex Diagnoses With Generative AI Assistance: Qualitative Study of Popular Large Language Models

Learning to Make Rare and Complex Diagnoses With Generative AI Assistance: Qualitative Study of Popular Large Language Models

Learning to Make Rare and Complex Diagnoses With Generative AI Assistance: Qualitative Study of Popular Large Language Models

Journals

  1. Cheng J. Applications of Large Language Models in Pathology. Bioengineering 2024;11(4):342 View
  2. Bragazzi N, Garbarino S. Toward Clinical Generative AI: Conceptual Framework. JMIR AI 2024;3:e55957 View
  3. Abdullahi T, Mercurio L, Singh R, Eickhoff C. Retrieval-Based Diagnostic Decision Support: Mixed Methods Study. JMIR Medical Informatics 2024;12:e50209 View
  4. Oami T, Okada Y, Nakada T. Performance of a Large Language Model in Screening Citations. JAMA Network Open 2024;7(7):e2420496 View
  5. Fabijan A, Zawadzka-Fabijan A, Fabijan R, Zakrzewski K, Nowosławska E, Polis B. Assessing the Accuracy of Artificial Intelligence Models in Scoliosis Classification and Suggested Therapeutic Approaches. Journal of Clinical Medicine 2024;13(14):4013 View
  6. Huang T, Safranek C, Socrates V, Chartash D, Wright D, Dilip M, Sangal R, Taylor R. Patient-Representing Population's Perceptions of GPT-Generated Versus Standard Emergency Department Discharge Instructions: Randomized Blind Survey Assessment. Journal of Medical Internet Research 2024;26:e60336 View
  7. Scott I, Miller T, Crock C. Using conversant artificial intelligence to improve diagnostic reasoning: ready for prime time?. Medical Journal of Australia 2024;221(5):240 View
  8. Kaczmarczyk R, Wilhelm T, Martin R, Roos J. Evaluating multimodal AI in medical diagnostics. npj Digital Medicine 2024;7(1) View
  9. Montalvo F, Pavlov K, Thai P, Devkota B, Takahashi B. Machine Learning and Human Expertise in the Balance: Generative AI in Healthcare Settings. Proceedings of the International Symposium on Human Factors and Ergonomics in Health Care 2024;13(1):211 View
  10. De Araújo Neto A, Pinto G, Corrêa J, Soares L, Batista C, Pinheiro F, Teles A. Chatbots na identificação de problemas de amamentação: avaliação de desempenho. Journal of Health Informatics 2024;16(Especial) View
  11. Ho C, Tian T, Ayers A, Aaron R, Phillips V, Wolf R, Mathioudakis N, Dai T, Klonoff D. Qualitative metrics from the biomedical literature for evaluating large language models in clinical decision-making: a narrative review. BMC Medical Informatics and Decision Making 2024;24(1) View
  12. Biesheuvel L, Workum J, Reuland M, van Genderen M, Thoral P, Dongelmans D, Elbers P. Large language models in critical care. Journal of Intensive Medicine 2025;5(2):113 View
  13. Yamamura Y, Fujii K, Nakashima C, Otsuka A. Evaluation of the Accuracy of Artificial Intelligence (AI) Models in Dermatological Diagnosis and Comparison With Dermatology Specialists. Cureus 2025 View
  14. Nan D, Zhao X, Chen C, Sun S, Lee K, Kim J. Bibliometric Analysis on ChatGPT Research with CiteSpace. Information 2025;16(1):38 View
  15. Gao Y, Myers S, Chen S, Dligach D, Miller T, Bitterman D, Chen G, Mayampurath A, Churpek M, Afshar M. Uncertainty estimation in diagnosis generation from large language models: next-word probability is not pre-test probability. JAMIA Open 2024;8(1) View
  16. Wu C, Liu W, Mei P, Liu Y, Cai J, Liu L, Wang J, Ling X, Wang M, Cheng Y, He M, He Q, He Q, Yuan X, Tong J. The large language model diagnoses tuberculous pleural effusion in pleural effusion patients through clinical feature landscapes. Respiratory Research 2025;26(1) View
  17. Takita H, Kabata D, Walston S, Tatekawa H, Saito K, Tsujimoto Y, Miki Y, Ueda D. A systematic review and meta-analysis of diagnostic performance comparison between generative AI and physicians. npj Digital Medicine 2025;8(1) View
  18. Merdler-Rabinowicz R, Omar M, Ganesh J, Morava E, Nadkarni G, Klang E. The role of large language models in medical genetics. Molecular Genetics and Metabolism 2025;145(1):109098 View
  19. Sadowsky S. Can ChatGPT be trusted as a resource for a scholarly article on treatment planning implant-supported prostheses?. The Journal of Prosthetic Dentistry 2025;134(2):438 View
  20. Kim H, Kim B, Choi M, Choi J, Oh S, Rha S. Conversion of Mixed-Language Free-Text CT Reports of Pancreatic Cancer to National Comprehensive Cancer Network Structured Reporting Templates by Using GPT-4. Korean Journal of Radiology 2025;26(6):557 View
  21. Kremer P, Schiebisch H, Lechner F, Haase I, Cirkel L, Kötter I, Kuhn S, Krusche M, Knitza J. Comparative analysis of large language models and traditional diagnostic decision support systems for rare rheumatic disease identification. EULAR Rheumatology Open 2025;1(2):51 View
  22. Zhou S, Xu Z, Zhang M, Xu C, Guo Y, Zhan Z, Fang Y, Ding S, Wang J, Xu K, Xia L, Yeung J, Zha D, Cai D, Melton G, Lin M, Zhang R. Large language models for disease diagnosis: a scoping review. npj Artificial Intelligence 2025;1(1) View
  23. Oami T, Okada Y, Nakada T. Optimal large language models to screen citations for systematic reviews. Research Synthesis Methods 2025;16(6):859 View
  24. Qian Y. Prompt Engineering in Education: A Systematic Review of Approaches and Educational Applications. Journal of Educational Computing Research 2025;63(7-8):1782 View
  25. Barba G, Lezzi M, Lazoi M, Corallo A. Combined use of web scraping and AI-based models for business applications: research evolution and future trends. Management Review Quarterly 2025 View
  26. Gao C, Gheihman G, Kaplan T, McCoy L, Collins L, Wenzel T, Paul A, Reda H, Stein L, Kimbaris G, Sutherland H, Stacpoole S, Milligan T, Goh R, Bacchi S. Education Research: Creating Online Interactive Case-Based Learning Experiences From Educational Case Reports With Large Language Models. Neurology Education 2025;4(4) View
  27. Lin Y, Luo Z, Ye Z, Zhong N, Zhao L, Zhang L, Li X, Chen Z, Chen Y. Applications, Challenges, and Prospects of Generative Artificial Intelligence Empowering Medical Education: Scoping Review. JMIR Medical Education 2025;11:e71125 View
  28. Serugunda H, Jianquan O, Kasujja Namatovu H, Ssemaluulu P, Kimbugwe N, Garimoi Orach C, Waiswa P. Using Large Language Models for Chronic Disease Management Tasks: Scoping Review. JMIR Medical Informatics 2025;13:e66905 View
  29. Yu H, Chen T, Zhang X, Yang Y, Liu Q, Yang C, Shen K, Li H, Tang W, Zhong X, Shuai X, Yu X, Liao Y, Wang C, Zhu H, Wu Y. Performance of Large Language Models in Diagnosing Rare Hematologic Diseases and the Impact of Their Diagnostic Outputs on Physicians: Combined Retrospective and Prospective Study. Journal of Medical Internet Research 2025;27:e77334 View
  30. Li X, Yan X, Lai H, Metwally A. The ethical challenges in the integration of artificial intelligence and large language models in medical education: A scoping review. PLOS One 2025;20(10):e0333411 View
  31. Sendtner G, Muecke M, Grigull L, Bender T, Behning C, Schäfer V. Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases. Orphanet Journal of Rare Diseases 2025;20(1) View
  32. Sciurti A, Migliara G, Siena L, Isonne C, De Blasiis M, Sinopoli A, Iera J, Marzuillo C, De Vito C, Villari P, Baccolini V. Compact large language models for title and abstract screening in systematic reviews: An assessment of feasibility, accuracy, and workload reduction. Research Synthesis Methods 2025:1 View
  33. Kazim S, Goodacre C, Kan J, Goldstein G. Can artificial intelligence (AI)-based software programs generate accurate clinical dictation?. The Journal of Prosthetic Dentistry 2025 View
  34. Punnen T, Shan K, Patel M, McCreary M, Tran D, Santoyo J, Burgess K, Moog T, Smith A, Okuda D. Diagnostic accuracy and bias in open access and subscription-based large language models for multiple sclerosis and neuromyelitis optica spectrum disorder. Intelligence-Based Medicine 2025;12:100314 View
  35. Gabibov A, Knorre V, Solov’ev Y. Genetic Technologies and Methods of Combinatorial Chemistry and Biology in the Study of Biological Processes. Russian Journal of Genetics 2025;61(11):1355 View
  36. Shi T, Ma J, Yu Z, Xu H, Yang R, Xiong M, Xiao M, Li Y, Zhao H, Kong G. Large Language Models in Critical Care Medicine: Scoping Review. JMIR Medical Informatics 2025;13:e76326 View

Books/Policy Documents

  1. Musunuri R, Bhatt A. Improving Healthcare Quality and Patient Engagement. View

Conference Proceedings

  1. Berger A, Berghaus D, Bashir A, Grigull L, Fendrich L, Lagones T, Högl H, Ernst G, Schmidt R, Bascom D, Deußer T, Bell T, Lübbering M, Sifa R. 2024 IEEE International Conference on Big Data (BigData). Advancing Personalized Medicine: A Scalable LLM-based Recommender System for Patient Matching View
  2. Abdullahi T, Gemou I, Nayak N, Murtaza G, Bach S, Eickhoff C, Singh R. Proceedings of the 31st ACM SIGKDD Conference on Knowledge Discovery and Data Mining V.2. K-Paths: Reasoning over Graph Paths for Drug Repurposing and Drug Interaction Prediction View