Núria Queralt-Rosinach - Chemogenomics Laboratory, Institut Municipal d’Investigació Mèdica and Universitat Pompeu Fabra

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论文共 64 篇作者统计合作学者相似作者

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Updating the CEMO ontology for future epidemiological challenges

Núria Queralt-Rosinach,Paul N. Schofield,Marco Roos,Robert Hoehndorf

SWAT4HCLSpp.151-152, (2023)

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FAIRification and semantic modelling for Duchenne and Becker Muscular Dystrophy rare diseases

Pablo Perdomo-Quinteiro, Sergiu Siminiuc, Paraskevi Sakellariou,Marco Roos,Pietro Spitali,Núria Queralt-Rosinach

SWAT4HCLSpp.130-132, (2023)

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Building expertise on FAIR through evolving Bring Your Own Data (BYOD) workshops: describing the data, software, and management-focused approaches and their evolution

César H. Bernabé, Lieze Thielemans,Rajaram Kaliyaperumal,Claudio Carta,Shuxin Zhang, Celia van Gelder,Nirupama Benis,Luiz Olavo Bonino da Silva Santos,Ronald Cornet,Bruna dos Santos Vieira, Nawel Lalout, Inês Henriques,

Data intelligencepp.1-23, (2023)

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Collaborative network analysis for the interpretation of transcriptomics data in rare diseases, an application to Huntington’s disease

Özan Özışık, Nurten Kara,Tooba Abbassi-Daloii,Morgane Térézol,Núria Queralt-Rosiñach,Annika Jacobsen,Uğur Sezerman,Marco Roos,Chris T. Evelo,Anaı̈s Baudot,Friederike Ehrhart,Eleni Mina

bioRxiv (Cold Spring Harbor Laboratory) (2023)

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Structured review on Huntington's disease iron hypothesis

Karolis Cremers,Marco Roos, Katy Wolstencroft,Eleni Mina,Núria Queralt-Rosinach

SWAT4HCLSpp.147-148, (2023)

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The use of foundational ontologies in biomedical research

César H. Bernabé,Núria Queralt-Rosinach,Vítor E. Silva Souza,Luiz Olavo Bonino da Silva Santos,Barend Mons,Annika Jacobsen,Marco Roos

Journal of Biomedical Semanticsno. 1 (2023): 1-14

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Integrative analysis of CAKUT multi-omics data

Jumamurat R. Bayjanov,Cenna Doornbos,Özan Özışık,Woosub Shin,Núria Queralt-Rosiñach, Daphne Wijnbergen, Jean-Sebastien Saulnier Blache,Joost P. Schanstra, José Marı́a Fernández,Rajaram Kaliyaperumal,Anaı̈s Baudot,Peter A C ‘t Hoen,

bioRxiv (Cold Spring Harbor Laboratory) (2023)

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The GA4GH Phenopacket schema defines a computable representation of clinical data

Julius O. B. Jacobsen,Michael Baudis,Gareth S. Baynam,Jacques S. Beckmann,Sergi Beltran,Orion J. Buske,Tiffany J. Callahan, Christopher G. Chute,Mélanie Courtot,Daniel Danis,Olivier Elemento,Andrea Essenwanger,

Nature Biotechnologyno. 6 (2022): 817-820

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Design and application of a knowledge network for automatic prioritization of drug mechanisms

Michael Mayers,Roger Tu, Dylan Steinecke,Tong Shu Li,Núria Queralt-Rosinach,Andrew I. Su

BIOINFORMATICS（2022）

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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

Núria Queralt-Rosinach

Data Sci.no. 1 (2022): 57-59

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