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Tools, Programs and Algorithms (425) Clinical Informatics (1499) Health Information Exchange (159) Advanced Data Analytics in eHealth (250) Ophthalmology (89) Standards and Interoperability (162)

Published on in Vol 14 (2026)

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/79378, first published .
Futuristic servers with glowing data streams, representing cloud computing and data storage.

Interoperable Integration of a National Rare Disease Registry Into a Rare Eye Disease Data Warehouse: Implementation Study

Interoperable Integration of a National Rare Disease Registry Into a Rare Eye Disease Data Warehouse: Implementation Study

Authors of this article:

Camille Beluffi Marin1 Author Orcid Image ;   Marilyne Oswald2 Author Orcid Image ;   Laura Ratenet2 Author Orcid Image ;   Matthieu Stoll2 Author Orcid Image ;   Kirsley Chennen1 Author Orcid Image ;   Hélène Dollfus1, 3 Author Orcid Image
Article Authors Cited by Tweetations Metrics

Camille Beluffi Marin   1 , ING, PhD ;   Marilyne Oswald   2 , PhD ;   Laura Ratenet   2 , MSc ;   Matthieu Stoll   2 , MSc ;   Kirsley Chennen   1 , PhD ;   Hélène Dollfus   1, 3 , MD

1 Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Strasbourg, France

2 FSMR SENSGENE, Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

3 FSMR SENSGENE, Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), ERN-EYE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

Corresponding Author:

  • Camille Beluffi Marin, ING, PhD
  • Laboratoire de Génétique Médicale
  • UMR_S INSERM U1112
  • 1 rue Eugène Boeckel
  • Strasbourg 67000
  • France
  • Phone: 33 03 68 85 36 60
  • Email: beluffi@unistra.fr