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Plos One|May 5, 2025
Replacing non-biomedical concepts improves embedding of biomedical conceptsEnock Niyonkuru, Mauricio Soto Gomez, Elena Casarighi, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2024
Replacing non-biomedical concepts improves embedding of biomedical conceptsEnock Niyonkuru, Mauricio Soto Gomez, Elena Casiraghi, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare DiseaseEnock Niyonkuru, J Harry Caufield, Leigh C Carmody, et al.
Bioinformatics Advances|July 7, 2025
Leveraging generative AI to assist biocuration of medical actions for rare diseaseEnock Niyonkuru, J Harry Caufield, Leigh C Carmody, et al.
European Journal of Human Genetics : EJHG|February 24, 2026
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support toolsJustin T Reese, Leonardo Chimirri, Yasemin Bridges, et al.
Medrxiv : the Preprint Server for Health Sciences|March 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 CasesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Ebiomedicine|October 15, 2025
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 casesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
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