Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping. - Xiaoyi Chen; Nicolas Garcelon; Antoine Neuraz; Katy Billot; Marc Lelarge; Thomas Bonald; Hugo Garcia; Yoann Martin; Vincent Benoit; Marc Vincent; Hassan Faour; Maxime Douillet; et al. (J. Biomed. Informatics, 2019)

Using Deep Learning to Improve Phenotyping from Clinical Reports. - Marc Vincent; Maxime Douillet; Ivan Lerner; Antoine Neuraz; Anita Burgun; Nicolas Garcelon (MedInfo, 2021)

The Smart Data Extractor, a Clinician Friendly Solution to Accelerate and Improve the Data Collection During Clinical Trials. - Sophie Quennelle; Maxime Douillet; Lisa Friedlander; Olivia Boyer; Antoine Neuraz; Anita Burgun; Nicolas Garcelon (MIE, 2023)

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)