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Journal Articles
- 2024
[j2]Carole Faviez, Xiaoyi Chen, Nicolas Garcelon
, Mohamad Zaidan, Katy Billot, Friederike Petzold, Hassan Faour, Maxime Douillet, Jean-Michel Rozet, Valerie Cormier-Daire, Tania Attié-Bitach, Stanislas Lyonnet, Sophie Saunier, Anita Burgun:
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies. BMC Medical Informatics Decis. Mak. 24(1): 134 (2024)- 2019
- [j1]Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Katy Billot, Marc Lelarge, Thomas Bonald, Hugo Garcia, Yoann Martin, Vincent Benoit, Marc Vincent, Hassan Faour, Maxime Douillet, Stanislas Lyonnet, Sophie Saunier, Anita Burgun:
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping. J. Biomed. Informatics 100 (2019)
Conference and Workshop Papers
- 2023
- [c3]Xiaoyi Chen, Carole Faviez, Marc Vincent, Sophie Saunier, Nicolas Garcelon, Anita Burgun:
Improving Patient Similarity Using Different Modalities of Phenotypes Extracted from Clinical Narratives. MIE 2023: 1037-1041 - 2022
- [c2]Carole Faviez, Marc Vincent, Nicolas Garcelon, Caroline Michot, Geneviève Baujat, Valerie Cormier-Daire, Sophie Saunier, Xiaoyi Chen, Anita Burgun:
Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome. MIE 2022: 844-848 - 2021
- [c1]Xiaoyi Chen, Carole Faviez, Marc Vincent, Nicolas Garcelon, Sophie Saunier, Anita Burgun:
Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis. MIE 2021: 600-604
Coauthor Index
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