| Future of rare diseases research 2017–2027: an IRDiRC perspective CP Austin, CM Cutillo, LPL Lau, AH Jonker, A Rath, D Julkowska, ... Clinical and translational science 11 (1), 21, 2018 | 196 | 2018 |
| Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite TGP Grünewald, V Bernard, P Gilardi-Hebenstreit, V Raynal, D Surdez, ... Nature genetics 47 (9), 1073-1078, 2015 | 194 | 2015 |
| Progress in rare diseases research 2010–2016: an IRDiRC perspective HJS Dawkins, R Draghia‐Akli, P Lasko, LPL Lau, AH Jonker, CM Cutillo, ... Clinical and translational science 11 (1), 11, 2018 | 143 | 2018 |
| Recommendations for the design of small population clinical trials S Day, AH Jonker, LPL Lau, RD Hilgers, I Irony, K Larsson, KCB Roes, ... Orphanet journal of rare diseases 13, 1-9, 2018 | 96 | 2018 |
| The importance of international collaboration for rare diseases research: a European perspective D Julkowska, CP Austin, CM Cutillo, D Gancberg, C Hager, ... Gene therapy 24 (9), 562-571, 2017 | 85 | 2017 |
| The international rare diseases research consortium: policies and guidelines to maximize impact H Lochmüller, J Torrent i Farnell, Y Le Cam, AH Jonker, LPL Lau, ... European Journal of Human Genetics 25 (12), 1293-1302, 2017 | 70 | 2017 |
| ‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases H Lochmüller, Y Le Cam, AH Jonker, LPL Lau, G Baynam, P Kaufmann, ... European Journal of Human Genetics 25 (2), 162-165, 2017 | 38 | 2017 |
| Genome-wide functional screening identifies CDC37 as a crucial HSP90-cofactor for KIT oncogenic expression in gastrointestinal stromal tumors A Mariño-Enríquez, WB Ou, G Cowley, B Luo, AH Jonker, M Mayeda, ... Oncogene 33 (14), 1872-1876, 2014 | 36 | 2014 |
| 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 … NT Southall, M Natarajan, LPL Lau, AH Jonker, B Deprez, T Guilliams, ... Orphanet Journal of Rare Diseases 14, 1-8, 2019 | 26 | 2019 |
| Model consent clauses for rare disease research MT Nguyen, J Goldblatt, R Isasi, M Jagut, AH Jonker, P Kaufmann, ... BMC medical ethics 20, 1-7, 2019 | 25 | 2019 |
| Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders AL Hartman, A Hechtelt Jonker, MA Parisi, D Julkowska, N Lockhart, ... European Journal of Human Genetics 28 (2), 174-181, 2020 | 18 | 2020 |
| Deciphering tissue morphodynamics using bioimage informatics AC Dufour, AH Jonker, JC Olivo-Marin Philosophical Transactions of the Royal Society B: Biological Sciences 372 …, 2017 | 17 | 2017 |
| International Rare Diseases Research, C CP Austin, CM Cutillo, LPL Lau, AH Jonker, A Rath, D Julkowska, ... Future of rare diseases research 2027, 21-27, 2017 | 15 | 2017 |
| Boosting delivery of rare disease therapies: the IRDiRC Orphan Drug Development Guidebook A Hechtelt Jonker, V Hivert, M Gabaldo, L Batista, D O’Connor, ... Nature Reviews Drug Discovery 19 (8), 495-496, 2020 | 14 | 2020 |
| Research on rare diseases: ten years of progress and challenges at IRDiRC L Monaco, G Zanello, G Baynam, AH Jonker, D Julkowska, AL Hartman, ... Nature Reviews Drug Discovery 21 (5), 319-320, 2022 | 13 | 2022 |
| Patient-centered outcome measures in the field of rare diseases Task Force on Patient-Centered Outcome Measures, IRDiRC, 30, 2016 | 10 | 2016 |
| Small population clinical trials: Challenges in the field of rare diseases AH Jonker, A Mills, L Lau, Y Ando, P Baroldi, F Bretz, CF Burman, ... Small Population Clinical Trials Task Force, IRDiRC, 2016 | 8 | 2016 |
| IRDiRC: 1000 new rare diseases treatments by 2027, identifying and bringing forward strategic actions V Hivert, AH Jonker, D O’Connor, D Ardigo Rare Disease and Orphan Drugs Journal 1 (3), 2021 | 7 | 2021 |
| European expert recommendations on clinical investigation and evaluation of high‐risk medical devices for children K Guerlich, B Patro‐Golab, A Barnacle, U Baumann, A Eicken, AG Fraser, ... Acta Paediatrica 112 (11), 2440-2448, 2023 | 6 | 2023 |
| Progress in rare diseases research 2010–2016: an IRDiRC perspective. Clin Transl Sci. 2018; 11 (1): 11–20 HJS Dawkins, R Draghia-Akli, P Lasko, LP Lau, AH Jonker, CM Cutillo Epub 2017/08/11. doi: 10.1111/cts. 12501. PubMed PMID: 28796411, 0 | 6 | |
Lilian PL LauTCD, IRDiRCVerified email at tcd.ie
