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Synthetic Tabular Data Generation Under Horizontal Federated Learning Environments in Acute Myeloid Leukemia: Case-Based Simulation Study

Imanol Isasa, Mikel Catalina, Gorka Epelde, Naiara Aginako, Andoni Beristain

JMIR Med Inform 2025;13:e74116

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Medical Expert Knowledge Meets AI to Enhance Symptom Checker Performance for Rare Disease Identification in Fabry Disease: Mixed Methods Study

Anne Pankow, Nico Meißner-Bendzko, Jessica Kaufeld, Laura Fouquette, Fabienne Cotte, Stephen Gilbert, Ewelina Türk, Anibh Das, Christoph Terkamp, Gerhard-Rüdiger Burmester, Annette Doris Wagner

JMIR AI 2025;4:e55001

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Quality of Life Among Family Caregivers of Individuals With Rare Diseases: Web-Based Population Study on the Validity and Reliability of the Polish World Health Organization Quality of Life-BREF Questionnaire

Piotr Jabkowski, Jan Domaradzki, Dariusz Walkowiak

JMIR Public Health Surveill 2025;11:e72590

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Performance of ChatGPT-4o and Four Open-Source Large Language Models in Generating Diagnoses Based on China’s Rare Disease Catalog: Comparative Study

Wei Zhong, YiFan Liu, Yan Liu, Kai Yang, HuiMin Gao, HuiHui Yan, WenJing Hao, YouSheng Yan, ChengHong Yin

J Med Internet Res 2025;27:e69929

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Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Population

Shifali Singh, Lisa Kluen, Katelin Curtis, Raquel Norel, Carla Agurto, Elizabeth Grinspoon, Zoe Hawks, Shawn Christ, Susan Waisbren, Guillermo Cecchi, Laura Germine

JMIR Form Res 2025;9:e63644

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Enhancing the Accuracy of Human Phenotype Ontology Identification: Comparative Evaluation of Multimodal Large Language Models

Wei Zhong, Mingyue Sun, Shun Yao, YiFan Liu, Dingchuan Peng, Yan Liu, Kai Yang, HuiMin Gao, HuiHui Yan, WenJing Hao, YouSheng Yan, ChengHong Yin

J Med Internet Res 2025;27:e73233

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The Potential to Leverage Real-World Data for Pediatric Clinical Trials: A Proof-of-Concept Study

Jens Declerck, Joanne Lee, Anando Sen, Avril Palmeri, Rianne Oostenbrink, Viviana Giannuzzi, Simon Woodworth, Salma Malik, Fenna Mahler, Beate Aurich, Rebecca Leary, Dipak Kalra, Volker Straub

J Med Internet Res 2025;27:e72573

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Tracking Public Interest in Rare Diseases and Eosinophilic Disorders in Germany: Web Search Analysis

Michael Hindelang, Sebastian Sitaru, Alexander Zink

JMIR Infodemiology 2025;5:e69040

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Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis

Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, Wilmar Saldarriaga, Juan David Gutierrez-Medina, Harry Pachajoa

JMIR Res Protoc 2024;13:e56649

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Early Diagnosis of Hereditary Angioedema in Japan Based on a US Medical Dataset: Algorithm Development and Validation

Kouhei Yamashita, Yuji Nomoto, Tomoya Hirose, Akira Yutani, Akira Okada, Nayu Watanabe, Ken Suzuki, Munenori Senzaki, Tomohiro Kuroda

JMIR Med Inform 2024;12:e59858

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