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Browsing Documents OpenAIRE (Open Access Infrastructure for Research in Europe) by Author "Rabionet, Raquel"

Browsing Documents OpenAIRE (Open Access Infrastructure for Research in Europe) by Author "Rabionet, Raquel"

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  • Muyas, Francesc; Bosio, Mattia; Puig, Anna; Susak, Hana; Domènech Salgado, Laura, 1989-; Escaramís, Geòrgia; Zapata Ortiz, Luis, 1985-; Demidov, German; Estivill, Xavier, 1955-; Rabionet, Raquel; Ossowski, Stephan (Wiley, 2019)
    In recent years, next-generation sequencing (NGS) has become a cornerstone of clinical genetics and diagnostics. Many clinical applications require high precision, especially if rare events such as somatic mutations in ...
  • Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murías, Sara; Alcobendas, Rosa; González-Roca, Eva; Ruíz Ortiz, Estíbaliz; Antón, Jordi; Iglesias, Estibaliz; Modesto, Consuelo; Comas, David, 1969-; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yagüe, Jordi L.; Merino, Rosa; Estivill, Xavier, 1955-; Aróstegui, Juan Ignacio (Nature Research, 2019)
    Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/FAMIN. We ...
  • Aigner, Johanna, 1981-; Villatoro, Sergi; Rabionet, Raquel; Roquer, Jaume; Jiménez Conde, Jordi; Martí, Eulàlia; Estivill, Xavier, 1955- (BioMed Central, 2013)
    Background: The Butyrophilin-like (BTNL) proteins are likely to play an important role in inflammation and immune response. Like the B7 protein family, many human and murine BTNL members have been shown to control T ...
  • Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet, Raquel; Bezdan, Daniela; Domenech Salgado, Laura; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan (Wiley, 2019)
    Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in ...
  • Escaramís, Geòrgia; Tornador Antolin, Cristian, 1979-; Bassaganyas Bars, Laia, 1985-; Rabionet, Raquel; Tubio, José M. C.; Martínez Fundichely, Alexander, 1978-; Cáceres Aguilar, Mario; Gut, Marta; Ossowski, Stephan; Estivill, Xavier, 1955- (Public Library of Science (PLoS), 2013)
    Next-generation sequencing technologies expedited research to develop efficient computational tools for the identification of structural variants (SVs) and their use to study human diseases. As deeper data is obtained, the ...

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