| Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds Bovine HapMap Consortium, RA Gibbs, JF Taylor, CP Van Tassell, ... Science 324 (5926), 528-532, 2009 | 977 | 2009 |
| The genome sequence of taurine cattle: a window to ruminant biology and evolution TBG Sequencing, CG Elsik, RL Tellam, KC Worley, Analysis Consortium Science (New York, NY) 324 (5926), 522, 2009 | 399 | 2009 |
| 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), 21-27, 2018 | 196 | 2018 |
| 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), 11-20, 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), 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 |
| International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases KM Boycott, LPL Lau, CM Cutillo, CP Austin EMBO molecular medicine 11 (5), e10486, 2019 | 38 | 2019 |
| ‘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 |
| 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), 1-8, 2019 | 26 | 2019 |
| 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 |
| Patient-centered outcome measures in the field of rare diseases G Sabino, A Mills, AH Jonker, LPL Lau, A Aartsma-Rus, S Aarum, J Arora, ... Task Force on Patient-Centered Outcome Measures, IRDiRC, 30, 2016 | 10 | 2016 |
| Small population clinical trials: Challenges in the field of rare diseases A Jonker, A Mills, L Lau, Y Ando, P Baroldi, F Bretz, CF Burman, ... Small Population Clinical Trials Task Force, IRDiRC, 2016 | 8 | 2016 |
| Future of rare diseases research 2017-2027: an IRDiRC perspective. Clin Transl Sci CP Austin, CM Cutillo, LPL Lau, A Jonker, A Rath, D Julkowska, ... | 4 | 2017 |
| POSITION STATEMENT Open Access NT Southall, M Natarajan, LPL Lau, AH Jonker, B Deprez, T Guilliams, ... | | 2019 |
| Detection of Selection in Mammalian Genomes and Populations LPL Lau Trinity College Dublin, 2010 | | 2010 |
