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Support for international rare disease research to serve the IRDiRC objectives

Veröffentlichungen

Additional file 2: of Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures

Autoren: Morel, Thomas; Cano, Stefan
Veröffentlicht in: Figshare Array 2017
Dauerhafte ID: Digital Object Identifier:10.6084/m9.figshare.c.3921052_d2.v1

Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measures.

Autoren: Morel, Thomas; Cano, Stefan J.
Veröffentlicht in: BioMed Central Orphanet Journal of Rare Diseases 2017
Dauerhafte ID: PubMed Central ID:PMC5667521; PubMed ID:29096663; Digital Object Identifier:10.1186/s13023-017-0718-x

Additional file 1: of Measuring what matters to rare disease patients â reflections on the work by the IRDiRC taskforce on patient-centered outcome measures

Autoren: Morel, Thomas; Cano, Stefan
Veröffentlicht in: Figshare Array 2017
Dauerhafte ID: Digital Object Identifier:10.6084/m9.figshare.c.3921052_d1.v1

The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases - recommendations of the IRDiRC Data Mining and Repurposing Task Force

Autoren: Southall, N.T.; Natarajan, M.; Lau, L.P.L.; Jonker, A.H.; Deprez, B.; Guilliams, T.; Hunter, L.; Rademaker, C.M.A.; Hivert, V.; Ardigo, D.; Cavalla, D.; Colvis, C.; Hettne, K.; t'Hoen, P.B.; Kant, C.; Krischer, J.; Marin, F.; Quintana, J.; Rademaker, C.; Reed, J.; Southali, N.; Tsigkos, S.; Thompson, R.; IRDiRC Data Min Repurposing Task
Dauerhafte ID: Handle:1887/106083; Handle:1887/122239; Digital Object Identifier:10.1186/s13023-019-1193-3; PubMed Central ID:PMC6794821; PubMed ID:31615551

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

Autoren: Yann Le Cam; Hanns Lochmüller; Hugh Dawkins; Lilian P.L. Lau; Paul Lasko; Gareth Baynam; Kym M. Boycott; Anneliene Hechtelt Jonker; Petra Kaufmann; Christopher P. Austin
Veröffentlicht in: Springer Science and Business Media LLC 2016
Dauerhafte ID: Digital Object Identifier:10.1038/ejhg.2016.137; PubMed Central ID:PMC5255942; PubMed ID:27782107

Additional file 1: of Model consent clauses for rare disease research

Autoren: Nguyen, Minh; Goldblatt, Jack; Isasi, Rosario; Jagut, Marlene; Anneliene Jonker; Kaufmann, Petra; Ouillade, Laetitia; Fruszina Molnar-Gabor; Shabani, Mahsa; Sid, Eric; TassĂŠ, Anne; Durhane Wong-Rieger; Bartha Knoppers
Veröffentlicht in: figshare Array 2019
Dauerhafte ID: Digital Object Identifier:10.6084/m9.figshare.9210542.v1; Digital Object Identifier:10.6084/m9.figshare.9210542

Model consent clauses for rare disease research.

Autoren: Nguyen, Minh Thu; Goldblatt, Jack; Isasi, Rosario; Jagut, Marlene; Jonker, Anneliene Hechtelt; Kautmann, Petra; Ouillade, Laetitia; Molnar-Gabor, Fruszina; Shabani, Mahsa; Sid, Eric; Tasse, Anne Marie; Wong-Rieger, Durhane; Knoppers, Bartha Maria; Kaufmann, Petra; Knoppers, Bartha; Tasse, Anne-Marie
Dauerhafte ID: PubMed Central ID:PMC6676617; PubMed ID:31370847; Digital Object Identifier:10.1186/s12910-019-0390-x; Handle:1854/LU-8629771

The importance of international collaboration for rare diseases research: a European perspective

Autoren: Julkowska, D; Austin, C P; Cutillo, C M; Gancberg, D; Hager, C; Halftermeyer, J; Jonker, A H; Lau, L P L; Norstedt, I; Rath, A; Schuster, R; Simelyte, E; van Weely, S
Dauerhafte ID: Digital Object Identifier:10.1038/gt.2017.29; PubMed Central ID:PMC5628265; PubMed ID:28440796

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Autoren: Lochmüller, Hanns; Torrent i Farnell, Josep; Le Cam, Yann; Jonker, Anneliene H; Lau, Lilian PL; Baynam, Gareth; Kaufmann, Petra; Dawkins, Hugh JS; Lasko, Paul; Austin, Christopher P; Boycott, Kym M; on behalf of the IRDiRC Consortium Assembly
Dauerhafte ID: Digital Object Identifier:10.1038/s41431-017-0008-z; PubMed Central ID:PMC5865169; PubMed ID:29158551

Future of Rare Diseases Research 2017-2027

Autoren: Austin, Christopher P.; Cutillo, Christine M.; Lau, Lilian P.L.; Jonker, Anneliene H.; Rath, Ana; Julkowska, Daria; Thomson, David; Terry, Sharon F.; de Montleau, Béatrice; Ardigò, Diego; Hivert, Virginie; Boycott, Kym M.; Baynam, Gareth; Kaufmann, Petra; Taruscio, Domenica; Lochmüller, Hanns; Suematsu, Makoto; Incerti, Carlo; Draghia-Akli, Ruxandra; Norstedt, Irene; Wang, Lu; Dawkins, Hugh J.S.; on behalf of the International Rare Diseases Research Consortium (IRDiRC)
Dauerhafte ID: Digital Object Identifier:10.1111/cts.12500; PubMed Central ID:PMC5759721; PubMed ID:28796445

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective

Autoren: Dawkins, Hugh J.S.; Draghia-Akli, Ruxandra; Lasko, Paul; Lau, Lilian P.L.; Jonker, Anneliene H.; Cutillo, Christine M.; Rath, Ana; Boycott, Kym M.; Baynam, Gareth; Lochmüller, Hanns; Kaufmann, Petra; Le Cam, Yann; Hivert, Virginie; Austin, Christopher P.; International Rare Diseases Research Consortium (IRDiRC)
Veröffentlicht in: Wiley Clinical and Translational Science 2017
Dauerhafte ID: Digital Object Identifier:10.1111/cts.12501; PubMed Central ID:PMC5759730; PubMed ID:28796411

Recommendations for the design of small population clinical trials

Autoren: Day, Simon; Jonker, Anneliene Hechtelt; Lau, Lilian Pek Lian; Hilgers, Ralf-Dieter; Irony, Ilan; Larsson, Kristina; Roes, Kit CB; Stallard, Nigel
Dauerhafte ID: Digital Object Identifier:10.18154/rwth-conv-237580; Digital Object Identifier:10.1186/s13023-018-0931-2; PubMed Central ID:PMC6219020; PubMed ID:30400970; Handle:1874/377134