| Gateways to the FANTOM5 promoter level mammalian expression atlas M Lizio, J Harshbarger, H Shimoji, J Severin, T Kasukawa, S Sahin, ... Genome biology 16, 1-14, 2015 | 878 | 2015 |
| FAIR principles: interpretations and implementation considerations A Jacobsen, R de Miranda Azevedo, N Juty, D Batista, S Coles, R Cornet, ... Data intelligence 2 (1-2), 10-29, 2020 | 306 | 2020 |
| Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy N Doorenweerd, A Mahfouz, M van Putten, R Kaliyaperumal, PAC t’Hoen, ... Scientific reports 7 (1), 12575, 2017 | 193 | 2017 |
| A generic workflow for the data FAIRification process A Jacobsen, R Kaliyaperumal, LOB da Silva Santos, B Mons, E Schultes, ... Data Intelligence 2 (1-2), 56-65, 2020 | 106 | 2020 |
| Interoperability and FAIRness through a novel combination of Web technologies MD Wilkinson, R Verborgh, LOB da Silva Santos, T Clark, MA Swertz, ... PeerJ Computer Science 3, e110, 2017 | 105 | 2017 |
| The GA4GH Phenopacket schema defines a computable representation of clinical data JOB Jacobsen, M Baudis, GS Baynam, JS Beckmann, S Beltran, ... Nature biotechnology 40 (6), 817-820, 2022 | 75 | 2022 |
| Making FAIR easy with FAIR tools: From creolization to convergence M Thompson, K Burger, R Kaliyaperumal, M Roos, LOB da Silva Santos Data Intelligence 2 (1-2), 87-95, 2020 | 49 | 2020 |
| From peer-reviewed to peer-reproduced in scholarly publishing: the complementary roles of data models and workflows in bioinformatics A González-Beltrán, P Li, J Zhao, MS Avila-Garcia, M Roos, M Thompson, ... PLOS one 10 (7), e0127612, 2015 | 46 | 2015 |
| Linked registries: connecting rare diseases patient registries through a semantic web layer P Sernadela, L González-Castro, C Carta, E Van Der Horst, P Lopes, ... BioMed Research International 2017 (1), 8327980, 2017 | 44 | 2017 |
| FAIR data points supporting big data interoperability LOB da Silva Santos, MD Wilkinson, A Kuzniar, R Kaliyaperumal, ... Enterprise Interoperability in the Digitized and Networked Factory of the …, 2016 | 44 | 2016 |
| The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases S Laurie, D Piscia, L Matalonga, A Corvó, M Fernández‐Callejo, ... Human mutation 43 (6), 717-733, 2022 | 40 | 2022 |
| The implicitome: a resource for rationalizing gene-disease associations KM Hettne, M Thompson, HH van Haagen, E Van Der Horst, ... PLoS one 11 (2), e0149621, 2016 | 40 | 2016 |
| Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic N Queralt-Rosinach, R Kaliyaperumal, CH Bernabé, Q Long, SA Joosten, ... Journal of biomedical semantics 13 (1), 12, 2022 | 38 | 2022 |
| Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data R Kaliyaperumal, MD Wilkinson, PA Moreno, N Benis, R Cornet, ... Journal of biomedical semantics 13 (1), 9, 2022 | 32 | 2022 |
| FAIR data point: a FAIR-oriented approach for metadata publication LOB da Silva Santos, K Burger, R Kaliyaperumal, MD Wilkinson Data Intelligence 5 (1), 163-183, 2023 | 30 | 2023 |
| A session-based approach for aligning large ontologies P Lambrix, R Kaliyaperumal The Semantic Web: Semantics and Big Data: 10th International Conference …, 2013 | 25 | 2013 |
| A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration F Ehrhart, A Jacobsen, M Rigau, M Bosio, R Kaliyaperumal, JFJ Laros, ... Scientific data 8 (1), 10, 2021 | 24 | 2021 |
| A session-based ontology alignment approach enabling user involvement 1 P Lambrix, R Kaliyaperumal Semantic Web 8 (2), 225-251, 2017 | 24 | 2017 |
| De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data MG Kersloot, A Jacobsen, KHJ Groenen, B dos Santos Vieira, ... Journal of Biomedical Informatics 122, 103897, 2021 | 22 | 2021 |
| FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research KJ van der Velde, G Singh, R Kaliyaperumal, XF Liao, S de Ridder, ... Scientific data 9 (1), 169, 2022 | 21 | 2022 |
Marco RoosLeiden University Medical Centre, Human Genetics Department, BioSemantics groupVerified email at lumc.nl
