Leonardo Chimirri

5PUBLICATIONS
56CO-AUTHORS
Computational linguisticsEpigenetics (incl. genome methylation and epigenomics)Language documentation and descriptionKnowledge representation and reasoning
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Publications (5)

|Feb 24, 2026
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.

Justin T Reese, Leonardo Chimirri, Yasemin Bridges

|Mar 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Lauren Rekerle, Daniel Danis, Filip Rehburg

|Mar 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.

Leonardo Chimirri, J Harry Caufield, Yasemin Bridges

|Sep 04, 2024
Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare Disease.

Enock Niyonkuru, J Harry Caufield, Leigh C Carmody

|Aug 07, 2024
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.

Justin T Reese, Leonardo Chimirri, Yasemin Bridges

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Frequent Collaborators

6 joint publications

Peter N Robinson

6 joint publications

Melissa Haendel

5 joint publications

Justin T Reese

5 joint publications

Christopher J Mungall