• 22 Citations
  • 3 h-Index
20182018
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Fingerprint Dive into the research topics where Paola Torreri is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 17 Similar Profiles
Rare Diseases Medicine & Life Sciences
Registries Medicine & Life Sciences
Information Dissemination Medicine & Life Sciences
Italy Medicine & Life Sciences
Research Personnel Medicine & Life Sciences
Databases Medicine & Life Sciences
Research Medicine & Life Sciences
Computational Biology Medicine & Life Sciences

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Research Output 2018 2018

  • 22 Citations
  • 3 h-Index
  • 2 Article
  • 1 Review article
11 Citations (Scopus)

Recommendations for improving the quality of rare disease registries

Kodra, Y., Weinbach, J., Posada-De-La-Paz, M., Coi, A., Lemonnier, S. L., van Enckevort, D., Roos, M., Jacobsen, A., Cornet, R., Ahmed, S. F., Bros-Facer, V., Popa, V., van Meel, M., Renault, D., von Gizycki, R., Santoro, M., Landais, P., Torreri, P., Carta, C., Mascalzoni, D. & 9 others, Gainotti, S., Lopez, E., Ambrosini, A., Müller, H., Reis, R., Bianchi, F., Rubinstein, Y. R., Lochmüller, H. & Taruscio, D., Aug 3 2018, In : International Journal of Environmental Research and Public Health. 15, 8, 1644.

Research output: Contribution to journalReview article

Open Access
Rare Diseases
Registries
Computational Biology
Information Systems
Documentation
4 Citations (Scopus)
Open Access
Rare Diseases
Italy
Registries
Sex Distribution
Information Storage and Retrieval
7 Citations (Scopus)

The RD-Connect Registry & Biobank Finder: A tool for sharing aggregated data and metadata among rare disease researchers

Gainotti, S., Torreri, P., Wang, C. M., Reihs, R., Mueller, H., Heslop, E., Roos, M., Badowska, D. M., De Paulis, F., Kodra, Y., Carta, C., Martìn, E. L., Miller, V. R., Filocamo, M., Mora, M., Thompson, M., Rubinstein, Y., Posada De La Paz, M., Monaco, L., Lochmüller, H. & 1 others, Taruscio, D., May 1 2018, In : European Journal of Human Genetics. 26, 5, p. 631-643 13 p.

Research output: Contribution to journalArticle

Information Dissemination
Rare Diseases
Registries
Research Personnel
Research