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The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.
Lochmüller H, Torrent I Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM; IRDiRC Consortium Assembly. Lochmüller H, et al. Among authors: jonker ah. Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20. Eur J Hum Genet. 2017. PMID: 29158551 Free PMC article.
Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.
Dawkins HJS, Draghia-Akli R, Lasko P, Lau LPL, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Le Cam Y, Hivert V, Austin CP; International Rare Diseases Research Consortium (IRDiRC). Dawkins HJS, et al. Among authors: jonker ah. Clin Transl Sci. 2018 Jan;11(1):11-20. doi: 10.1111/cts.12501. Epub 2017 Oct 23. Clin Transl Sci. 2018. PMID: 28796411 Free PMC article. Review. No abstract available.
Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.
Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D, Thomson D, Terry SF, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJS; International Rare Diseases Research Consortium (IRDiRC). Austin CP, et al. Among authors: jonker ah. Clin Transl Sci. 2018 Jan;11(1):21-27. doi: 10.1111/cts.12500. Epub 2017 Oct 23. Clin Transl Sci. 2018. PMID: 28796445 Free PMC article. Review. No abstract available.
Model consent clauses for rare disease research.
Nguyen MT, Goldblatt J, Isasi R, Jagut M, Jonker AH, Kaufmann P, Ouillade L, Molnar-Gabor F, Shabani M, Sid E, Tassé AM, Wong-Rieger D, Knoppers BM; IRDiRC-GA4GH Model Consent Clauses Task Force. Nguyen MT, et al. Among authors: jonker ah. BMC Med Ethics. 2019 Aug 1;20(1):55. doi: 10.1186/s12910-019-0390-x. BMC Med Ethics. 2019. PMID: 31370847 Free PMC article.
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.
Southall NT, Natarajan M, Lau LPL, Jonker AH, Deprez B, Guilliams T, Hunter L, Rademaker CM, Hivert V, Ardigò D; IRDiRC Data Mining and Repurposing Task Force. Southall NT, et al. Among authors: jonker ah. Orphanet J Rare Dis. 2019 Oct 15;14(1):225. doi: 10.1186/s13023-019-1193-3. Orphanet J Rare Dis. 2019. PMID: 31615551 Free PMC article.
Research on rare diseases: ten years of progress and challenges at IRDiRC.
Monaco L, Zanello G, Baynam G, Jonker AH, Julkowska D, Hartman AL, O'Connor D, Wang CM, Wong-Rieger D, Pearce DA. Monaco L, et al. Among authors: jonker ah. Nat Rev Drug Discov. 2022 May;21(5):319-320. doi: 10.1038/d41573-022-00019-z. Nat Rev Drug Discov. 2022. PMID: 35079160 Free PMC article. No abstract available.
Recommendations for the design of small population clinical trials.
Day S, Jonker AH, Lau LPL, Hilgers RD, Irony I, Larsson K, Roes KC, Stallard N. Day S, et al. Among authors: jonker ah. Orphanet J Rare Dis. 2018 Nov 6;13(1):195. doi: 10.1186/s13023-018-0931-2. Orphanet J Rare Dis. 2018. PMID: 30400970 Free PMC article.
15 results