Browsing by Author "Ossowski, Stephan"

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  • Urreizti, Roser; Cueto González, Anna María; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F.; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana (Nature Publishing Group, 2017)
    Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different ...
  • 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 ...
  • Danko, David; Hecht, Jochen; Mutai, Beth; Ossowski, Stephan; International MetaSUB Consortium (Elsevier, 2021)
    We present a global atlas of 4,728 metagenomic samples from mass-transit systems in 60 cities over 3 years, representing the first systematic, worldwide catalog of the urban microbial ecosystem. This atlas provides an ...
  • 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 ...
  • Muyas, Francesc; Bosio, Mattia; Puig, Anna; Sušak, Hana, 1985-; 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 ...
  • Willmann, Matthias; Bezdan, Daniela; Zapata Ortiz, Luis, 1985-; Sušak, Hana, 1985-; Vogel, Wichard; Schröppel, Klaus; Liese, Jan; Weidenmaier, Christopher; Autenrieth, Ingo B.; Ossowski, Stephan; Peter, Silke (Oxford University Press, 2015)
    OBJECTIVES: Here we report on a long-term outbreak from 2009 to 2012 with an XDR Pseudomonas aeruginosa on two wards at a university hospital in southern Germany. METHODS: Whole-genome sequencing was performed on the ...
  • 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 ...
  • Vona, Chiara Di; Bezdan, Daniela; Islam, Abul, 1978-; Salichs Fradera, Eulàlia; López Bigas, Núria; Ossowski, Stephan; Luna, Susana de la (Elsevier, 2015)
    DYRK1A is a dosage-sensitive protein kinase that fulfills key roles during development and in tissue homeostasis, and its dysregulation results in human pathologies. DYRK1A is present in both the nucleus and cytoplasm of ...
  • Zapata Ortiz, Luis, 1985-; Ding, Jia; Willing, Eva-Maria; Hartwig, Benjamin; Bezdan, Daniela; Jiao, Wen-Biao; Patel, Vipul; Velikkakam, James Geo; Koornneef, Maarten; Ossowski, Stephan; Schneeberger, Korbinian (National Academy of Sciences, 2016)
    Resequencing or reference-based assemblies reveal large parts of the small-scale sequence variation. However, they typically fail to separate such local variation into colinear and rearranged variation, because they usually ...
  • Cortés-Ciriano, Isidro; Lee, Jake June-Koo; Xi, Ruibin; Jain, Dhawal; Jung, Youngsook L.; Yang, Lixing; Gordenin, Dmitry; Klimczak, Leszek J.; Zhang, Cheng-Zhong; Pellman, David S.; PCAWG Structural Variation Working Group; Park, Peter J.; PCAWG Consortium; Ossowski, Stephan; Pearson, John V. (Nature Research, 2020)
    Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may ...
  • Jhanwar, Shalu, 1986- (Universitat Pompeu Fabra, 2017-01-11)
    Epigenetics provides a plausible link between the environment and changes in gene expression that might contribute to disease phenotypes. The main goal of the thesis is to study epigenomic variability and their effect on ...
  • Trujillano Lidón, Daniel, 1987-; Bullich, Gemma; Ossowski, Stephan; Ballarín, José; Torra, Roser; Estivill, Xavier, 1955-; Ars, Elisabet (Wiley, 2014)
    Molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) relies on mutation screening of PKD1 and PKD2, which is complicated by extensive allelic heterogeneity and the presence of six highly homologous ...
  • Akdemir, Kadir C.; Le, Victoria T.; Chandran, Sahaana; Li, Yilong; Verhaak, Roel G.; Beroukhim, Rameen; Campbell, Peter J.; Chin, Linda; PCAWG Structural Variation Working Group; Dixon, Jesse R.; Futreal, P. Andrew; PCAWG Consortium; Ossowski, Stephan (Nature Research, 2020)
    Chromatin is folded into successive layers to organize linear DNA. Genes within the same topologically associating domains (TADs) demonstrate similar expression and histone-modification profiles, and boundaries separating ...
  • 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 ...
  • 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 ...
  • Espeso Gil, Sergio, 1985-; Holik, Aliaksei Z.; Bonnin, Sarah; Jhanwar, Shalu, 1986-; Chandrasekaran, Sandhya; Pique Regi, Roger; Albaigès-Ràfols, Júlia; Maher, Michael; Permanyer, Jon; Irimia, Manuel; Friedländer, Marc R.; Pons Espinal, Meritxell, 1986-; Akbarian, Schahram; Dierssen, Mara; Maass, Philipp G.; Hor, Charlotte N.; Ossowski, Stephan (Frontiers, 2021)
    In early development, the environment triggers mnemonic epigenomic programs resulting in memory and learning experiences to confer cognitive phenotypes into adulthood. To uncover how environmental stimulation impacts the ...
  • Peter, Silke; Oberhettinger, Philipp; Schuele, Leonard; Dinkelacker, Ariane; Vogel, Wichard; Dörfel, Daniela; Bezdan, Daniela; Ossowski, Stephan; Marschal, Matthias; Liese, Jan; Willmann, Matthias (BioMed Central, 2017)
    BACKGROUND: Pseudomonas putida is a Gram-negative, non-fermenting bacterium frequently encountered in various environmental niches. P. putida rarely causes disease in humans, though serious infections and outbreaks have ...
  • Zhang, Yikun; Chen, Fengju; Fonseca, Nuno; He, Yao; Fujita, Masashi; Nakagawa, Hidewaki; Zhang, Zemin; Brazma, Alvis; PCAWG Transcriptome Working Group; PCAWG Structural Variation Working Group; Creighton, Chad J.; PCAWG Consortium; Ossowski, Stephan (Nature Research, 2020)
    The impact of somatic structural variants (SVs) on gene expression in cancer is largely unknown. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole-genome sequencing ...
  • Muyas Remolar, Francesc, 1992- (Universitat Pompeu Fabra, 2019-12-20)
    The rapid development of high-throughput sequencing technologies pushed forward the fields of medical genomics and precision medicine, creating many new applications for diagnostics and clinical studies that require high ...
  • 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 ...