Sophie Saunier

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 5

Top Topics

Disease Diagnosis

Clinical Trials

Caenorhabditis Elegans

Electronic Health Records

Top Venues

BMC Medical Informatics Decis. Mak.

J. Biomed. Informatics

Publications

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) (2024)
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)
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)
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)
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)