Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Yaffa R. Rubinstein"'
Autor:
Tamar B. Rubinstein, Melissa A. Haendel, Jonathan Pevsner, Christoffer Nellåker, Paul Avillach, Domenica Taruscio, Stephen C. Groft, Rebecca M. Goodwin, Dina N. Paltoo, Nomi L. Harris, Peter N. Robinson, Vojtech Huser, Marco Roos, Julie A. McMurry, Mats G. Hansson, Matthew Might, Barend Mons, Yaffa R. Rubinstein, Helene Cederroth, Alison P Rockett-Frase, Gareth Baynam, William A. Gahl, Deborah Mascalzoni, Esther van Enckevort, Manuel Posada
Publikováno v:
JAMIA Open
Repisalud
Instituto de Salud Carlos III (ISCIII)
Repisalud
Instituto de Salud Carlos III (ISCIII)
The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. Research in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be23627405e1f832a3596a4894cb3fd4
https://europepmc.org/articles/PMC7660964/
https://europepmc.org/articles/PMC7660964/
Autor:
Sabina Gainotti, Hanns Lochmüller, Lucia Monaco, Verónica Alonso, Manuel Posada de la Paz, Domenica Taruscio, Chiuhui Mary Wang, Estrella Lopez, Rachel Thompson, Yaffa R. Rubinstein
Publikováno v:
Expert Opinion on Orphan Drugs. 4:729-739
Introduction: There are currently several strategies developed to facilitate access and data sharing in the rare disease field. These strategies have paid special attention to the importance of rare disease patient registries and biobanks, as they ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0d46afa1ed7da310e68ce5e2baff0e3
https://doi.org/10.1080/21678707.2016.1188002
https://doi.org/10.1080/21678707.2016.1188002
Autor:
Paul Landais, Heimo Müller, Deborah Mascalzoni, Virginie Bros-Facer, Yllka Kodra, Ronald Cornet, Daniel Renault, Paola Torreri, Claudio Carta, Marco Roos, Marieke Van Meel, Alessio Coi, Annika Jacobsen, Veronica Popa, Manuel Posada-de-la-Paz, Yaffa R. Rubinstein, Rainald von Gizycki, S Faisal Ahmed, Michele Santoro, Estrella Lopez, Robert Reis, Jérôme Weinbach, David van Enckevort, Domenica Taruscio, S Lydie Lemonnier, Anna Ambrosini, Sabina Gainotti, Hanns Lochmüller, Fabrizio Bianchi
Publikováno v:
International Journal of Environmental Research and Public Health, 15(8)
International Journal of Environmental Research and Public Health
Repisalud
Instituto de Salud Carlos III (ISCIII)
International Journal of Environmental Research and Public Health, Vol 15, Iss 8, p 1644 (2018)
International Journal of Environmental Research and Public Health
Repisalud
Instituto de Salud Carlos III (ISCIII)
International Journal of Environmental Research and Public Health, Vol 15, Iss 8, p 1644 (2018)
Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information sys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ade81687afb2be56949118ac12a5edc
http://hdl.handle.net/1887/86526
http://hdl.handle.net/1887/86526
Autor:
Claudio Carta, Paola Torreri, Vanessa Rangel Miller, Domenica Taruscio, Federico de Paulis, Estrella López Martín, Dorota Mazena Badowska, Marco Roos, Chiuhui Mary Wang, Sabina Gainotti, Mark Thompson, Mirella Filocamo, Marina Mora, Heimo Mueller, Hanns Lochmüller, Robert Reihs, Yllka Kodra, Lucia Monaco, Emma Heslop, Yaffa R. Rubinstein, Manuel Posada de la Paz
Publikováno v:
Repisalud
Instituto de Salud Carlos III (ISCIII)
European Journal of Human Genetics, 26(5), 631-643
Instituto de Salud Carlos III (ISCIII)
European Journal of Human Genetics, 26(5), 631-643
In rare disease (RD) research, there is a huge need to systematically collect biomaterials, phenotypic, and genomic data in a standardized way and to make them findable, accessible, interoperable and reusable (FAIR). RD-Connect is a 6 years global in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b94bdf0dad723261ebf90cc5f551274
http://hdl.handle.net/20.500.12105/11233
http://hdl.handle.net/20.500.12105/11233
Publikováno v:
Advances in experimental medicine and biology. 1031
Well-annotated and properly preserved specimens are crucial both for diagnostic purposes and for use in basic and pre-clinical research, and are especially important for rare disease (RD) studies. Several consortia have been established in the recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9bf41e8400e828c196d6614c46802de7
https://pubmed.ncbi.nlm.nih.gov/29214569
https://pubmed.ncbi.nlm.nih.gov/29214569
Autor:
Alan H. Bittles, Sue Fletcher, Stephen C. Groft, Felix D. Guerrero, Roberto A. Barrero, Christopher E. Mason, Matthew I. Bellgard, Callum J. Bell, Yaffa R. Rubinstein, Jack Goldblatt, Gareth Baynam, Mark W. Sleeman, Tarun Weeramanthri, Stephen D. Wilton
Publikováno v:
Health Policy and Technology. 3:325-335
Rare disease registries have now been recognized as a global priority for progress both in monitoring and documenting the natural course, and preventing and treating rare diseases. However, a disease registry is only one element of rare disease trans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::017b3de490a1437d6d9a89c049eca8ca
https://doi.org/10.1016/j.hlpt.2014.08.007
https://doi.org/10.1016/j.hlpt.2014.08.007
Autor:
Jérôme Weinbach, Alessio Coi, Yaffa R. Rubinstein, Manuel Posada de la Paz, Michele Santoro, Fabrizio Bianchi, Faisal Ahmed, Yllka Kodra, Domenica Taruscio
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9783319671420
In the field of rare diseases, registries are considered power tool to develop clinical research, to facilitate the planning of appropriate clinical trials, to improve patient care and healthcare planning. Therefore high quality data of rare diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::922ec55aff8b81990c68fc696edc74e1
https://doi.org/10.1007/978-3-319-67144-4_8
https://doi.org/10.1007/978-3-319-67144-4_8
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9783319671420
Well-annotated and properly preserved specimens are crucial both for diagnostic purposes and for use in basic and pre-clinical research, and are especially important for rare disease (RD) studies. Several consortia have been established in the recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a390b42927d6cfcce54dd30aab3ebbe
https://doi.org/10.1007/978-3-319-67144-4_7
https://doi.org/10.1007/978-3-319-67144-4_7
Autor:
Yaffa R. Rubinstein, Pamela McInnes
Publikováno v:
Contemporary Clinical Trials. 42:78-80
The main goal of the NIH/NCATS GRDR® program is to serve as a central web-based global data repository to integrate de-identified patient clinical data from rare disease registries, and other data sources, in a standardized manner, to be available t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a3bc6eb1c749fe65b105e1307d1bdd9
https://doi.org/10.1016/j.cct.2015.03.003
https://doi.org/10.1016/j.cct.2015.03.003
Autor:
Matthew I. Bellgard, Joshua W. Knowles, Hanns Lochmüller, Hugh Dawkins, Michael Livingston, Gerald F. Watts, Yaffa R. Rubinstein, Emma Hammond, Waleed O Farid
Publikováno v:
International Journal of Evidence-Based Healthcare. 11:134-139
Familial hypercholesterolaemia (FH) is a relatively common genetic disorder associated with high risk of coronary heart disease that is preventable by early diagnosis and treatment. In a previous article, we reviewed the evidence for clinical managem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e350824bd66e172b891ff8fd7a85bba1
https://doi.org/10.1111/1744-1609.12023
https://doi.org/10.1111/1744-1609.12023