Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.

Chimirri L, Caufield JH, Bridges Y, Matentzoglu N, Gargano M, Cazalla M, Chen S, Danis D, Dingemans AJM, Gehle K, Gehle P, Graefe ASL, Gu W, Ladewig MS, Lapunzina P, Nevado J, Niyonkuru E, Ogishima S, Seelow D, Tenorio Castaño JA, Turnovec M, de Vries BBA, Wang K, Wissink K, Yüksel Z, Zucca G, Haendel MA, Mungall CJ, Reese J, Robinson PN

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DOI: 10.1016/j.ebiom.2025.105957
Published: 2025 Nov
Container: EBioMedicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ebiom.2025.105957,
  title = {Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.},
  author = {Chimirri L and Caufield JH and Bridges Y and Matentzoglu N and Gargano M and Cazalla M and Chen S and Danis D and Dingemans AJM and Gehle K and Gehle P and Graefe ASL and Gu W and Ladewig MS and Lapunzina P and Nevado J and Niyonkuru E and Ogishima S and Seelow D and Tenorio Castaño JA and Turnovec M and de Vries BBA and Wang K and Wissink K and Yüksel Z and Zucca G and Haendel MA and Mungall CJ and Reese J and Robinson PN},
  year = {2025},
  journal = {EBioMedicine},
  doi = {10.1016/j.ebiom.2025.105957},
  url = {https://doi.org/10.1016/j.ebiom.2025.105957}
}

RIS

TY  - JOUR
TI  - Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.
AU  - Chimirri L
AU  - Caufield JH
AU  - Bridges Y
AU  - Matentzoglu N
AU  - Gargano M
AU  - Cazalla M
AU  - Chen S
AU  - Danis D
AU  - Dingemans AJM
AU  - Gehle K
AU  - Gehle P
AU  - Graefe ASL
AU  - Gu W
AU  - Ladewig MS
AU  - Lapunzina P
AU  - Nevado J
AU  - Niyonkuru E
AU  - Ogishima S
AU  - Seelow D
AU  - Tenorio Castaño JA
AU  - Turnovec M
AU  - de Vries BBA
AU  - Wang K
AU  - Wissink K
AU  - Yüksel Z
AU  - Zucca G
AU  - Haendel MA
AU  - Mungall CJ
AU  - Reese J
AU  - Robinson PN
PY  - 2025
JO  - EBioMedicine
DO  - 10.1016/j.ebiom.2025.105957
UR  - https://doi.org/10.1016/j.ebiom.2025.105957
ER  -

APA

L, C., JH, C., Y, B., N, M., M, G., M, C., S, C., D, D., AJM, D., K, G., P, G., ASL, G., W, G., MS, L., P, L., J, N., E, N., S, O., D, S., JA, T. C., M, T., BBA, D. V., K, W., K, W., Z, Y., G, Z., MA, H., CJ, M., J, R., & PN, R. (2025). Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.. EBioMedicine. https://doi.org/10.1016/j.ebiom.2025.105957

Source records

pubmed · retrieved 2026-09-25T13:15:14.719Z