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)