L
Lucia Monaco
Researcher at University of Messina
Publications - 16
Citations - 412
Lucia Monaco is an academic researcher from University of Messina. The author has contributed to research in topics: Biobank & Medicine. The author has an hindex of 8, co-authored 13 publications receiving 348 citations.
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Journal ArticleDOI
RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
Rachel Thompson,Louise Johnston,Domenica Taruscio,Lucia Monaco,Christophe Béroud,Ivo Gut,Mats G. Hansson,Peter-Bram A. ’t Hoen,George P. Patrinos,Hugh Dawkins,Monica Ensini,Kurt Zatloukal,David Koubi,Emma Heslop,Justin Paschall,Manuel Posada,Peter N. Robinson,Kate Bushby,Hanns Lochmüller +18 more
TL;DR: RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.
Journal ArticleDOI
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
Marina Mora,Corrado Angelini,Fabrizia Bignami,Anne Mary Bodin,Marco Crimi,Jeanne Hélène di Donato,Alex E. Felice,Cécile Jaeger,Veronika Karcagi,Yann Lecam,Stephen Lynn,Marija Meznaric,Maurizio Moggio,Lucia Monaco,Luisa Politano,Manuel Posada de la Paz,Safaa Saker,Peter Schneiderat,Monica Ensini,Barbara Garavaglia,David Gurwitz,Diana Johnson,Francesco Muntoni,Jack Puymirat,Mojgan Reza,Thomas Voit,C. Baldo,Franca Dagna Bricarelli,Stefano Goldwurm,Giuseppe Merla,Elena Pegoraro,Alessandra Renieri,Kurt Zatloukal,Mirella Filocamo,Hanns Lochmüller +34 more
TL;DR: The EuroBioBank network, the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases, is implementing integration with RD patient registries and ‘omics’ data, thus challenging the fragmentation of international cooperation on the field.
Journal ArticleDOI
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
C. Baldo,Lorena Casareto,Alessandra Renieri,Giuseppe Merla,Barbara Garavaglia,Stefano Goldwurm,Elena Pegoraro,Maurizio Moggio,Marina Mora,Luisa Politano,Luca Sangiorgi,Raffaella Mazzotti,Valeria Viotti,Ilaria Meloni,Maria Teresa Pellico,Chiara Barzaghi,Chiuhui Mary Wang,Lucia Monaco,Mirella Filocamo +18 more
TL;DR: The TNGB experience has proven to be an example of good practice with regard to patient engagement in biobanking and may serve as a model of collaboration between disease-oriented Biobanks and Patient Organisations.
Journal ArticleDOI
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Sabina Gainotti,Paola Torreri,Chiuhui Mary Wang,Robert Reihs,Heimo Mueller,Emma Heslop,Marco Roos,Dorota Mazena Badowska,Federico de Paulis,Yllka Kodra,Claudio Carta,Estrella López Martín,Vanessa Rangel Miller,Mirella Filocamo,Marina Mora,Mark Thompson,Yaffa R. Rubinstein,Manuel Posada de la Paz,Lucia Monaco,Hanns Lochmüller,Domenica Taruscio +20 more
TL;DR: The RD-Connect Registry & Biobank Finder is a tool that helps RD researchers to find RD biobanks and registries and provide information on the availability and accessibility of content in each database, including aggregated data and metadata from participating databases.
Journal ArticleDOI
Current trends in biobanking for rare diseases: a review
Caroline E Graham,Caron Molster,Gareth Baynam,Kate Bushby,Mats G. Hansson,Anna Kole,Marina Mora,Lucia Monaco,Matthew I. Bellgard,David Carpentieri,Manuel Posada,Olaf Reiss,Yaffa R. Rubinstein,Franz Schaefer,Domenica Taruscio,Sharon F. Terry,Kurt Zatloukal,Bartha Maria Knoppers,Hanns Lochmüller,Hugh Dawkins +19 more
TL;DR: This work is distributed under the terms of the License http://creativecommons.org/licenses/by-nc/3.0/.