Browsing by Author "Rabionet, Raquel"

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  • 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 family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis
    Aróstegui, Juan Ignacio; Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murias, Sara; Alcobendas, Rosa; González-Roca, Eva; Dreschsel, Oliver; Ruíz Ortiz, Estíbaliz; Puig, Anna; Comas, David, 1969-; Ossowski, Stephan; Yagüe, Jordi L.; Estivill, Xavier, 1955-; Merino, Rosa (BioMed Central, 2015)
    We identified a consanguineous Moroccan family with three affected siblings diagnosed with rheumatoid factor-negative polyarticular juvenile idiopathic arthritis. They all suffered from an early-onset (2-4 years-old) chronic ...
  • 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 ...
  • Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
    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 ...
  • 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. ...
  • A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein
    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 ...
  • Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach
    Alemany-Navarro, María; Costas, Javier; Real, Eva; Segalàs, Cinto; Bertolín, Sara; Domènech Salgado, Laura, 1989-; Rabionet, Raquel; Carracedo, Ángel; Menchón, José M.; Alonso, Pino (Nature Research, 2019)
    The rate of response to pharmacological treatment in Obsessive-compulsive disorder (OCD) oscillates between 40 and 70%. Genetic and environmental factors have been associated with treatment response in OCD. This study ...
  • eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics
    Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet, Raquel; Bezdan, Daniela; Domènech Salgado, Laura, 1989-; 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 ...
  • 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 ...
  • Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus
    Steyn, Angela; Crowther, Nigel J.; Norris, Shane A.; Rabionet, Raquel; Estivill, Xavier, 1955-; Ramsay, Michèle (Future Medicine, 2019)
    Aim: Gestational diabetes mellitus (GDM) has been linked with adverse long-term health outcomes for the fetus and mother. These effects may be mediated by epigenetic modifications. Materials & methods: Genome-wide RNA ...
  • Exploring genetic variants in obsessive compulsive disorder severity: A GWAS approach
    Alemany-Navarro, María; Cruz, Raquel; Real, Eva; Segalàs, Cinto; Bertolín, Sara; Baenas, Isabel; Domènech Salgado, Laura, 1989-; Rabionet, Raquel; Carracedo, Ángel; Menchón, José M.; Alonso, Pino (Elsevier, 2020)
    BACKGROUND: The severity of Obsessive-Compulsive Disorder (OCD) varies significantly among probands. No study has specifically investigated the genetic base of OCD severity. A previous study from our group found an OCD ...
  • Functional analyses of four CYP1A1 missense mutations present in patients with atypical femoral fractures
    Ugartondo, Nerea; Martínez-Gil, Núria; Esteve, Mònica; Garcia Giralt, Natàlia; Roca Ayats, Neus; Ovejero Crespo, Diana; Nogués Solan, Francesc Xavier; Díez Pérez, Adolfo; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana (MDPI, 2021)
    Osteoporosis is the most common metabolic bone disorder and nitrogen-containing bisphosphonates (BP) are a first line treatment for it. Yet, atypical femoral fractures (AFF), a rare adverse effect, may appear after prolonged ...
  • Gene network of susceptibility to atypical femoral fractures related to bisphosphonate treatment
    Garcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc; Martínez-Gil, Núria; Ovejero Crespo, Diana; Castañeda, Santos; Nogués Solan, Francesc Xavier; Grinberg, Daniel; Balcells, Susana; Rabionet, Raquel (MDPI, 2022)
    Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of AFF is still unclear even though a ...
  • Genetic analysis in a familial case with high bone mineral density suggests additive effects at two loci
    Martínez-Gil, Núria; Ovejero Crespo, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana (Wiley, 2022)
    Osteoporosis is the most common bone disease, characterized by a low bone mineral density (BMD) and increased risk of fracture. At the other end of the BMD spectrum, some individuals present strong, fracture-resistant, ...
  • Identification of gene mutations and fusion genes in patients with Sézary syndrome.
    Prasad, Aparna; Rabionet, Raquel; Espinet Solà, Blanca; Zapata Ortiz, Luis, 1985-; Puiggros Metje, Anna Maria; Melero Vilella, Maria Carme; Puig, Anna; Sarria-Trujillo, Yaris; Ossowski, Stephan; Garcia-Muret, Maria P.; Estrach, Teresa; Servitje, Octavio; Lopez-Lerma, Ingrid; Gallardo Hernández, Fernando; Pujol Vallverdú, Ramon Maria; Estivill, Xavier, 1955- (Elsevier, 2016)
    Sézary syndrome is a leukemic form of cutaneous T-cell lymphoma with an aggressive clinical course. The genetic etiology of the disease is poorly understood, with chromosomal abnormalities and mutations in some genes being ...
  • On the association between Chiari malformation type 1, bone mineral density and bone related genes
    Martínez-Gil, Núria; Mellibovsky, Leonardo; Manzano-López González, Demián; Patiño, Juan David; Cozar, Mónica; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana (Elsevier, 2022)
    Background: Chiari malformation type 1 (C1M) is a neurological disease characterized by herniation of the cerebellar tonsils below the foramen magnum. Cranial bone constriction is suspected to be its main cause. To date, ...
  • 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 ...
  • 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 ...