Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome. - Carole Faviez; Marc Vincent; Nicolas Garcelon; Caroline Michot; Geneviève Baujat; Valerie Cormier-Daire; Sophie Saunier; Xiaoyi Chen; Anita Burgun (MIE, 2022)

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies. - 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; et al. (BMC Medical Informatics Decis. Mak., 2024)

Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome. - Carole Faviez; Xiaomeng Wang; Marc Vincent; Nicolas Garcelon; Sophie Saunier; Valerie Cormier-Daire; Xiaoyi Chen; Anita Burgun (Int. J. Medical Informatics, 2025)