Diagnosing Rare Genetic Diseases From Facial Images Using Visual Prompting With Multimodal Large Language Models: Diagnostic Accuracy Study

Jie Song, Zhichuan Xu, Meng Xiao, Cheng Bi, Yuxin Zhang, Xin Zheng, Xiaoran Li, Ziyu Lu, Qiongfang Cao, Bairong Shen

Open source

DOI
10.2196/105860
Published
2026-11-02
Container
JMIR Medical Informatics
Publisher
JMIR Publications Inc.
Open access
unknown

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BibTeX

@article{allodium:10.2196/105860,
  title = {Diagnosing Rare Genetic Diseases From Facial Images Using Visual Prompting With Multimodal Large Language Models: Diagnostic Accuracy Study},
  author = {Jie Song and Zhichuan Xu and Meng Xiao and Cheng Bi and Yuxin Zhang and Xin Zheng and Xiaoran Li and Ziyu Lu and Qiongfang Cao and Bairong Shen},
  year = {2026},
  journal = {JMIR Medical Informatics},
  doi = {10.2196/105860},
  url = {https://doi.org/10.2196/105860}
}

RIS

TY  - JOUR
TI  - Diagnosing Rare Genetic Diseases From Facial Images Using Visual Prompting With Multimodal Large Language Models: Diagnostic Accuracy Study
AU  - Jie Song
AU  - Zhichuan Xu
AU  - Meng Xiao
AU  - Cheng Bi
AU  - Yuxin Zhang
AU  - Xin Zheng
AU  - Xiaoran Li
AU  - Ziyu Lu
AU  - Qiongfang Cao
AU  - Bairong Shen
PY  - 2026
JO  - JMIR Medical Informatics
DO  - 10.2196/105860
UR  - https://doi.org/10.2196/105860
ER  - 

APA

Song, J., Xu, Z., Xiao, M., Bi, C., Zhang, Y., Zheng, X., Li, X., Lu, Z., Cao, Q., & Shen, B. (2026). Diagnosing Rare Genetic Diseases From Facial Images Using Visual Prompting With Multimodal Large Language Models: Diagnostic Accuracy Study. JMIR Medical Informatics. https://doi.org/10.2196/105860

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