Browsing by Author "Escaramís, Geòrgia"

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  • Escaramís, Geòrgia; Docampo, Elisa; Rabionet, Raquel (Oxford University Press, 2015)
    In the past decade, the view on genomic structural variation (SV) has been changed completely. SVs, previously considered rare events, are now recognized as the largest source of interindividual genetic variation affecting ...
  • Pallarès Albanell, Joan, 1988-; Zomeño-Abellán, M. Teresa; Escaramís, Geòrgia; Pantano Rubiño, Lorena, 1982-; Soriano, Aroa; Segura, Miguel F.; Martí, Eulàlia (Elsevier, 2019)
    Small non-coding RNAs (sncRNAs), including microRNAs (miRNAs) are important post-transcriptional gene expression regulators relevant in physiological and pathological processes. Here, we combined a high-throughput functional ...
  • 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 ...
  • Bosch Pagès, Nina; Escaramís, Geòrgia; Mercader Bigas, Josep Maria; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (Elsevier, 2008)
    Copy number variants contribute extensively to inter-individual genomic differences, but little is known about their inter-population variability and diversity. In a previous study (Bosch et al., 2007; 16:2572-2582), we ...
  • Mercader Bigas, Josep Maria; Saus Martínez, Ester; Agüera, Zaida; Bayés, Mònica; Boni, Claudette; Carreras, Anna; Cellini, Elena; Cid Ibeas, Rafael de; Dierssen, Mara; Escaramís, Geòrgia; Fernández Aranda, Fernando; Forcano, Laura; Gallego, Xavier; González Ruiz, Juan Ramón; Gorwood, Philip; Hebebrand, Johannes; Hinney, Anke; Nacmias, Benedetta; Puig, Anna; Ribasés, Marta; Ricca, Valdo; Romo, Lucía; Sorbi, Sandro; Versini, Audrey; Gratacós Mayora, Mònica; Estivill, Xavier, 1955- (Oxford University Press, 2008)
    Eating disorders (EDs) are complex psychiatric diseases that include anorexia nervosa and bulimia nervosa, and have higher than 50% heritability. Previous studies have found association of BDNF and NTRK2 to ED, while animal ...
  • ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Deminov, German M.; Drechsel, Oliver; Ossowski, Stephan; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Bosio, Mattia; Holik, Aliaksei Z.; Susak, Hana; Rabionet, Raquel; Stobbe, Miranda D.; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Gut, Ivo Glynne; Beltran, Sergi; Gut, Marta; Trotta, Jean-Remi; Whalley, Justin P.; Heath, Simon; Prasad, Aparna; Heredia Genestar, José María, 1985-; Sabarinathan, Radhakrishnan; Pich, Oriol; Gonzalez-Perez, Abel; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David; Mularoni, Loris; Deu-Pons, Jordi; Muiños, Ferran; Muyas Remolar, Francesc, 1992- (Nature Research, 2020)
    Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale . Here we report the integrative analysis of 2,658 ...
  • 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 ...
  • Vilahur Chiaraviglio, Nadia, 1982-; Bustamante Pineda, Mariona; Morales, Eva; Motta, Valeria; Fernandez, Mariana F.; Salas, Lucas A.; Escaramís, Geòrgia; Ballester Díez, Ferran; Murcia, Mario; Tardón, Adonina; Riaño, Isolina; Santa Marina, Loreto; Ibarluzea, Jesús; Arrebola, Juan Pedro; Estivill, Xavier, 1955-; Bollati, Valentina; Sunyer Deu, Jordi; Olea, Nicolás (Future Medicine, 2016)
    BACKGROUND: In utero exposure to xenostrogens may modify the epigenome. We explored the association of prenatal exposure to mixtures of xenoestrogens and genome-wide placental DNA methylation. MATERIALS & METHODS: Sex-specific ...
  • Puente, Xosé S.; Escaramís, Geòrgia; Bassaganyas Bars, Laia, 1985-; Tubio, José M. C.; Tornador Antolin, Cristian, 1979-; Himmelbauer, Heinz; Castillo Andreo, Esther; Dohm, Juliane C.; Guigó Serra, Roderic; Estivill, Xavier, 1955-; Campo, Elias (Nature Research, 2011)
    Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western countries, is a heterogeneous disease with variable clinical presentation and evolution. Two major molecular subtypes can be distinguished, ...