Domain-Specific Common Data Elements for Rare Disease Registration: Conceptual Approach of a European Joint Initiative Toward Semantic Interoperability in Rare Disease Research

por Abaza, Haitham, Kadioglu, Dennis, Martin, Simona, Papadopoulou, Andri, dos Santos Vieira, Bruna, Schaefer, Franz, Storf, Holger
Publicado 2022

The de novo FAIRification process of a registry for vascular anomalies

por Groenen, Karlijn H. J., Jacobsen, Annika, Kersloot, Martijn G., dos Santos Vieira, Bruna, van Enckevort, Esther, Kaliyaperumal, Rajaram, Arts, Derk L., ‘t Hoen, Peter A. C., Cornet, Ronald, Roos, Marco, Kool, Leo Schultze
Publicado 2021

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries

por dos Santos Vieira, Bruna, Bernabé, César H., Zhang, Shuxin, Abaza, Haitham, Benis, Nirupama, Cámara, Alberto, Cornet, Ronald, Le Cornec, Clémence M. A., ’t Hoen, Peter A. C., Schaefer, Franz, van der Velde, K. Joeri, Swertz, Morris A., Wilkinson, Mark D., Jacobsen, Annika, Roos, Marco
Publicado 2022

Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data

por Kaliyaperumal, Rajaram, Wilkinson, Mark D., Moreno, Pablo Alarcón, Benis, Nirupama, Cornet, Ronald, dos Santos Vieira, Bruna, Dumontier, Michel, Bernabé, César Henrique, Jacobsen, Annika, Le Cornec, Clémence M. A., Godoy, Mario Prieto, Queralt-Rosinach, Núria, Schultze Kool, Leo J., Swertz, Morris A., van Damme, Philip, van der Velde, K. Joeri, Lalout, Nawel, Zhang, Shuxin, Roos, Marco
Publicado 2022