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The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 818 | 2021 |
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 724 | 2019 |
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International cooperation to enable the diagnosis of all rare genetic diseases KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ... The American Journal of Human Genetics 100 (5), 695-705, 2017 | 423 | 2017 |
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users A Rath, A Olry, F Dhombres, MM Brandt, B Urbero, S Ayme Human mutation 33 (5), 803-808, 2012 | 404 | 2012 |
How many rare diseases are there? M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ... Nature reviews drug discovery 19 (2), 77-78, 2020 | 402 | 2020 |
The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 368 | 2017 |
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 | 228 | 2018 |
Clinical practice guidelines for rare diseases: the orphanet database S Pavan, K Rommel, ME Mateo Marquina, S Höhn, V Lanneau, A Rath PloS one 12 (1), e0170365, 2017 | 174 | 2017 |
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 | 162 | 2018 |
Barriers to the conduct of randomised clinical trials within all disease areas S Djurisic, A Rath, S Gaber, S Garattini, V Bertele, SN Ngwabyt, V Hivert, ... Trials 18, 1-10, 2017 | 152 | 2017 |
Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding S Aymé, B Bellet, A Rath Orphanet Journal of Rare Diseases 10, 1-14, 2015 | 150 | 2015 |
Evidence-based clinical practice: overview of threats to the validity of evidence and how to minimise them S Garattini, JC Jakobsen, J Wetterslev, V Bertelé, R Banzi, A Rath, ... European journal of internal medicine 32, 13-21, 2016 | 132 | 2016 |
The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort CE Walker, T Mahede, G Davis, LJ Miller, J Girschik, K Brameld, W Sun, ... Genetics in Medicine 19 (5), 546-552, 2017 | 114 | 2017 |
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 | 98 | 2017 |
The gene curation coalition: a global effort to harmonize gene–disease evidence resources MT DiStefano, S Goehringer, L Babb, FS Alkuraya, J Amberger, M Amin, ... Genetics in Medicine 24 (8), 1732-1742, 2022 | 97 | 2022 |
A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be … A Rath, V Salamon, S Peixoto, V Hivert, M Laville, B Segrestin, ... Trials 18, 1-11, 2017 | 91 | 2017 |
Specific barriers to the conduct of randomised clinical trials on medical devices EAM Neugebauer, A Rath, SL Antoine, M Eikermann, D Seidel, C Koenen, ... Trials 18, 1-10, 2017 | 91 | 2017 |
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1325-1331, 2021 | 87 | 2021 |