Browsing by Author "Escaramís, Geòrgia"

Sort by: Order: Results:

  • A decade of structural variants: description, history and methods to detect structural variation
    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 ...
  • A high-throughput screening identifies microRNA inhibitors that influence neuronal maintenance and/or response to oxidative stress
    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 ...
  • Allele balance bias identifies systematic genotyping errors and false disease associations
    Muyas, Francesc; Bosio, Mattia; Puig, Anna; Sušak, Hana, 1985-; Domènech Salgado, Laura, 1989-; Escaramís, Geòrgia; Zapata Ortiz, Luis, 1985-; Demidov, German, 1990-; 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 ...
  • Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds
    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 ...
  • Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders
    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 ...
  • Blood miRNA levels associated with ADHD traits in children across six European birth cohorts
    Dypås, Lene B.; Duale, Nur; Olsen, Ann-Karin; Bustamante Pineda, Mariona; Maitre, Léa; Escaramís, Geòrgia; Júlvez Calvo, Jordi; Aguilar Lacasaña, Sofía; Andrušaitytė, Sandra; Casas Sanahuja, Maribel; Vafeiadi, Marina, 1983-; Gražulevičienė, Regina; Heude, Barbara; Lepeule, Johanna; Urquiza, José M.; Wright, John; Yang, Tiffany C.; Vrijheid, Martine; Gützkow, Kristine B. (BioMed Central, 2023)
    Background: Attention-deficit/hyperactivity disorder (ADHD) is a prevalent and highly heritable neurodevelopmental disorder of major societal concern. Diagnosis can be challenging and there are large knowledge gaps regarding ...
  • Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder
    Domènech Salgado, Laura, 1989-; Willis, Jesse R.; Alemany-Navarro, María; Morell, Marta; Real, Eva; Escaramís, Geòrgia; Bertolín, Sara; Sánchez Chinchilla, Daniel; Balcells, Susana; Segalàs, Cinto; Estivill, Xavier, 1955-; Menchón, José M.; Gabaldón Estevan, Juan Antonio, 1973-; Alonso, Pino; Rabionet, Raquel (Nature Research, 2022)
    Although the etiology of obsessive-compulsive disorder (OCD) is largely unknown, it is accepted that OCD is a complex disorder. There is a known bi-directional interaction between the gut microbiome and brain activity. ...
  • Cluster analysis of clinical data identifies fibromyalgia subgroups
    Docampo, Elisa; Collado, Antonio; Escaramís, Geòrgia; Carbonell, Jordi; Rivera, Javier; Vidal, Javier; Alegre, José; Rabionet, Raquel; Estivill, Xavier, 1955- (Public Library of Science (PLoS), 2013)
    Introduction. Fibromyalgia (FM) is mainly characterized by widespread pain and multiple accompanying symptoms, which hinder FM assessment and management. In order to reduce FM heterogeneity we classified clinical data into ...
  • Comparison of zebrafish larvae and hiPSC cardiomyocytes for predicting drug-induced cardiotoxicity in humans
    Dyballa, Sylvia, 1982-; Miñana, Rafael; Rubio-Brotons, Maria; Cornet Bartolomé, Carles, 1991-; Pederzani, Tiziana; Escaramís, Geòrgia; Garcia-Serna, Ricard; Mestres i López, Jordi; Terriente, Javier (Oxford University Press, 2019)
    Cardiovascular drug toxicity is responsible for 17% of drug withdrawals in clinical phases, half of post-marketed drug withdrawals and remains an important adverse effect of several marketed drugs. Early assessment of ...
  • Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation
    Sušak, Hana, 1985-; Serra Saurina, Laura; Demidov, German, 1990-; Rabionet, Raquel; Domènech Salgado, Laura, 1989-; Bosio, Mattia; Muyas Remolar, Francesc, 1992-; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Ossowski, Stephan (Public Library of Science (PLoS), 2021)
    Rare variants are thought to play an important role in the etiology of complex diseases and may explain a significant fraction of the missing heritability in genetic disease studies. Next-generation sequencing facilitates ...
  • Pan-cancer analysis of whole genomes
    ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Demidov, German, 1990-; Drechsel, Oliver; Ossowski, Stephan; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Bosio, Mattia; Holik, Aliaksei Z.; Sušak, Hana, 1985-; 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 ...
  • PeSV-Fisher: identification of somatic and non-somatic structural variants using nextgeneration sequencing data
    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 ...
  • Prenatal exposure to mixtures of xenoestrogens and genome-wide DNA methylation in human placenta
    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 ...
  • Sex differences in oncogenic mutational processes
    Li, Constance H.; Stobbe, Miranda D.; Déu Pons, Jordi; Gonzalez-Perez, Abel; Muiños, Ferran; Mularoni, Loris; Pich Roselló, Oriol, 1992-; Rubio Pérez, Carlota, 1990-; Sabarinathan, Radhakrishnan; Tamborero Noguera, David; Heredia Genestar, José María, 1985-; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Bosio, Mattia; Demidov, German, 1990-; Drechsel, Oliver; Escaramís, Geòrgia; Estivill, Xavier, 1955-; Holik, Aliaksei Z.; Muyas Remolar, Francesc, 1992-; Ossowski, Stephan; Rabionet, Raquel; Sušak, Hana, 1985-; PCAWG Consortium (Nature Research, 2020)
    Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features ...
  • Urinary metabolite quantitative trait loci in children and their interaction with dietary factors
    Calvo Serra, Beatriz; Maitre, Léa; Lau, Chung-Ho E.; Siskos, Alexandros P.; Gützkow, Kristine B.; Andrušaitytė, Sandra; Casas Sanahuja, Maribel; Cadiou, Solène; Chatzi, Leda; González, Juan Ramón; Gražulevičienė, Regina; McEachan, Rosemary R.C.; Slama, Rémy; Vafeiadi, Marina, 1983-; Wright, John; Coen, Muireann; Vrijheid, Martine; Keun, Hector C.; Escaramís, Geòrgia; Bustamante Pineda, Mariona (Oxford University Press, 2021)
    Human metabolism is influenced by genetic and environmental factors. Previous studies have identified over 23 loci associated with more than 26 urine metabolites levels in adults, which are known as urinary metabolite ...
  • Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
    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, ...

Search DSpace

Browse

My Account

In collaboration with Compliant to Partaking