CEMARA: a Web Dynamic Application Within a N-tier Architecture for Rare Diseases. - Claude Messiaen; Loïc Le Mignot; Ana Rath; Jean-Baptiste Richard; Eric Dufour; Mohamed Ben Saïd; Jean Philippe Jaïs; Alain Verloes; Martine Le Merrer; Christine Bodemer; Geneviève Baujat; Marion Gerard-Blanluet; et al. (MIE, 2008)

CEMARA an information system for rare diseases. - Paul Landais; Claude Messiaen; Ana Rath; Loïc Le Mignot; Eric Dufour; Mohamed Ben Saïd; Jean Philippe Jaïs; Laurent Toubiana; Geneviève Baujat; Eva Bourdon-Lanoy; Marion Gerard-Blanluet; Christine Bodemer; et al. (MedInfo, 2010)

Mapping Orphanet Terminology to UMLS. - Maja Milicic Brandt; Ana Rath; Andrew Devereau; Ségolène Aymé (AIME, 2011)

Projet OrphaOnto - Première étape de l'ontologisation des bases de connaissances d'Orphanet. - Ferdinand Dhombres; Pierre-Yves Vandenbussche; Ana Rath; Marc Hanauer; Annie Olry; Bruno Urbero; Jean Charlet (IC, 2011)

OntoOrpha: An Ontology to Support Edition and Audit of Knowledge of Rare Diseases in ORPHANET. - Ferdinand Dhombres; Pierre-Yves Vandenbussche; Ana Rath; Marc Hanauer; Annie Olry; Bruno Urbero; Rémy Choquet; Jean Charlet (ICBO, 2011)

The Human Phenotype Ontology in 2017. - Sebastian Köhler 001; Nicole A. Vasilevsky; Mark Engelstad; Erin Foster; Julie A. McMurry; Ségolène Aymé; Gareth Baynam; Susan M. Bello; Cornelius F. Boerkoel; Kym M. Boycott; Michael Brudno; Orion J. Buske; et al. (Nucleic Acids Res., 2017)

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. - Sebastian Köhler 001; Leigh Carmody; Nicole A. Vasilevsky; Julius O. B. Jacobsen; Daniel Danis; Jean-Philippe F. Gourdine; Michael A. Gargano; Nomi L. Harris; Nicolas Matentzoglu; Julie A. McMurry; David Osumi-Sutherland; Valentina Cipriani; et al. (Nucleic Acids Res., 2019)

The ELIXIR Core Data Resources: fundamental infrastructure for the life sciences. - Rachel Drysdale; Charles E. Cook; Robert Petryszak; Vivienne Baillie Gerritsen; Mary Barlow; Elisabeth Gasteiger; Franziska Gruhl; Jürgen Haas; Jerry Lanfear; Rodrigo Lopez; Nicole Redaschi; Heinz Stockinger; et al. (Bioinform., 2020)

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. - David Salgado; Irina M. Armean; Michael Baudis; Sergi Beltran; Salvador Capella-Gutiérrez; Denise Carvalho-Silva; Victoria Dominguez Del Angel; Joaquín Dopazo; Laura I. Furlong; Bo Gao; Leyla Jael García Castro; Dietlind Gerloff; et al. (F1000Research, 2020)

The Human Phenotype Ontology in 2021. - Sebastian Köhler 001; Michael A. Gargano; Nicolas Matentzoglu; Leigh Carmody; David Lewis-Smith; Nicole A. Vasilevsky; Daniel Danis; Ganna Balagura; Gareth Baynam; Amy M. Brower; Tiffany J. Callahan; Christopher G. Chute; et al. (Nucleic Acids Res., 2021)