Browsing by Author "Drechsel, Oliver"

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  • Bahamonde Santos, María Isabel, 1972-; Serra Pascual, Selma A., 1981-; Drechsel, Oliver; Rahman, Rubayte; Marcé-Grau, Anna; Prieto, Marta; Ossowski, Stephan; Macaya, Alfons; Fernández-Fernández, José Manuel, 1967- (Public Library of Science (PLoS), 2015)
    Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, result in heterogeneous human neurological disorders, including familial and sporadic hemiplegic migraine along with episodic ...
  • 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 ...
  • 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 ...
  • ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Demidov, German; 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 ...
  • Urbizu, Aintzane; Garrett, Melanie E.; Soldano, Karen; Drechsel, Oliver; Loth, Dorothy; Marcé-Grau, Anna; Mestres Soler, Olga; Poca, María A.; Ossowski, Stephan; Macaya, Alfons; Loth, Francis; Labuda, Rick; Ashley-Koch, Allison (Public Library of Science (PLoS), 2021)
    Chiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms. Cranial bone constriction is suspected to be ...
  • Bailey, Matthew H.; Drechsel, Oliver; Gut, Ivo Glynne; Ossowski, Stephan; Stobbe, Miranda D.; Gonzalez-Perez, Abel; PCAWG Consortium (Nature Research, 2020)
    The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part ...
  • 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 ...
  • Zapata Ortiz, Luis, 1985-; Sušak, Hana, 1985-; Drechsel, Oliver; Friedländer, Marc R.; Estivill, Xavier, 1955-; Ossowski, Stephan (Nature Publishing Group, 2017)
    Tumors are composed of an evolving population of cells subjected to tissue-specific selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene identification. Here, we integrate cancer cell ...