Núria Queralt-Rosinach

Orcid: 0000-0003-0169-8159

Affiliations:
  • Leiden Univeristy, Medical Center (LUMC), The Netherlands
  • University of Rovira i Virgili, Tarragona, Spain (PhD 2010)


According to our database1, Núria Queralt-Rosinach authored at least 34 papers between 2012 and 2023.

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Bibliography

2023
The use of foundational ontologies in biomedical research.
J. Biomed. Semant., December, 2023

Updating the CEMO ontology for future epidemiological challenges.
Proceedings of the 14th International Conference on Semantic Web Applications and Tools for Health Care and Life Sciences (SWAT4HCLS 2023), 2023

FAIRification and semantic modelling for Duchenne and Becker Muscular Dystrophy rare diseases.
Proceedings of the 14th International Conference on Semantic Web Applications and Tools for Health Care and Life Sciences (SWAT4HCLS 2023), 2023

Structured review on Huntington's disease iron hypothesis.
Proceedings of the 14th International Conference on Semantic Web Applications and Tools for Health Care and Life Sciences (SWAT4HCLS 2023), 2023

2022
A formalization of one of the main claims of "Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway" by Enns et al. 20141.
Data Sci., 2022

Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic.
J. Biomed. Semant., 2022

Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.
J. Biomed. Semant., 2022

Design and application of a knowledge network for automatic prioritization of drug mechanisms.
Bioinform., 2022

A Simple Standard for Sharing Ontological Mappings (SSSOM).
Database J. Biol. Databases Curation, 2022

Phenopackets for the Semantic Web.
Proceedings of the 13th International Conference on Semantic Web Applications and Tools for Health Care and Life Sciences, 2022

The Use of Foundational Ontologies in Bioinformatics.
Proceedings of the 13th International Conference on Semantic Web Applications and Tools for Health Care and Life Sciences, 2022

2021
Reuse of Design Pattern Measurements for Health Data.
Proceedings of the Joint Ontology Workshops 2021 Episode VII: The Bolzano Summer of Knowledge co-located with the 12th International Conference on Formal Ontology in Information Systems (FOIS 2021), 2021

LUMC Clinical Ontology for Biomedical Research.
Proceedings of the International Conference on Biomedical Ontologies 2021 co-located with the Workshop on Ontologies for the Behavioural and Social Sciences (OntoBess 2021) as part of the Bolzano Summer of Knowledge (BOSK 2021), 2021

Enabling FAIR Discovery of Rare Disease Digital Resources.
Proceedings of the Navigating Healthcare Through Challenging Times - Proceedings of dHealth 2021, 2021

2020
BioHackathon 2015: Semantics of data for life sciences and reproducible research.
F1000Research, 2020

Structured reviews for data and knowledge-driven research.
Database J. Biol. Databases Curation, 2020

FAIR Data Management to Access Patient Data.
Proceedings of the DaMaLOS, 2020

2019
Time-resolved evaluation of compound repositioning predictions on a text-mined knowledge network.
BMC Bioinform., 2019

2018
Nanopublications: A Growing Resource of Provenance-Centric Scientific Linked Data.
Proceedings of the 14th IEEE International Conference on e-Science, 2018

2017
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants.
Nucleic Acids Res., 2017

Data Science and symbolic AI: Synergies, challenges and opportunities.
Data Sci., 2017

Neuro-symbolic representation learning on biological knowledge graphs.
Bioinform., 2017

Reliable Granular References to Changing Linked Data.
Proceedings of the Semantic Web - ISWC 2017, 2017

2016
Publishing DisGeNET as nanopublications.
Semantic Web, 2016

Decentralized provenance-aware publishing with nanopublications.
PeerJ Comput. Sci., 2016

DisGeNET-RDF: harnessing the innovative power of the Semantic Web to explore the genetic basis of diseases.
Bioinform., 2016

Linking Wikidata to the Rest of the Semantic Web.
Proceedings of the 9th International Conference Semantic Web Applications and Tools for Life Sciences, 2016

2015
On Reasoning with RDF Statements about Statements using Singleton Property Triples.
CoRR, 2015

Extraction of relations between genes and diseases from text and large-scale data analysis: implications for translational research.
BMC Bioinform., 2015

DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes.
Database J. Biol. Databases Curation, 2015

Exposing Provenance Metadata Using Different RDF Models.
Proceedings of the 8th Semantic Web Applications and Tools for Life Sciences International Conference, 2015

2014
The Semanticscience Integrated Ontology (SIO) for biomedical research and knowledge discovery.
J. Biomed. Semant., 2014

2013
DisGeNET RDF: A Gene-Disease Association Linked Open Data Resource.
Proceedings of the 6th International Workshop on Semantic Web Applications and Tools for Life Sciences, 2013

2012
DisGeNET: from MySQL to Nanopublication, Modelling Gene-Disease Associations for the Semantic Web.
Proceedings of the 5th International Workshop on Semantic Web Applications and Tools for Life Sciences, 2012


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