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Ana Rath
Ana Rath
Director Inserm US14 Orphanet
Verified email at inserm.fr - Homepage
Title
Cited by
Cited by
Year
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
S Nguengang Wakap, DM Lambert, A Olry, C Rodwell, C Gueydan, ...
European Journal of Human Genetics 28 (2), 165-173, 2020
10292020
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
7982017
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
7842021
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
6672019
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
3812012
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
3802017
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
3012020
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
1962018
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
1602017
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
1422018
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
1332015
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
1262017
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
1202016
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
1052017
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
852017
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
832017
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
802017
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
682021
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
672022
Ordo: an ontology connecting rare disease, epidemiology and genetic data
D Vasant, L Chanas, J Malone, M Hanauer, A Olry, S Jupp, PN Robinson, ...
Proceedings of ISMB 30, 2014
662014
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