Browsing by Author "Domènech Salgado, Laura, 1989-"

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  • Domènech Salgado, Laura, 1989- (Universitat Pompeu Fabra, 2018-12-20)
    To date, very little progress has been made towards elucidating the genetic causes of obsessive-compulsive disorder (OCD). In this project we have performed rare variant association study (RVAS) transcriptomics and ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Costas, Javier; Carrera, Noa; Alonso, Pino; Gurriarán, X.; Segalàs, Cinto; Real, Eva; López-Solà, Clara; Mas, Sebastian; Gassó, Patricia; Domènech Salgado, Laura, 1989-; Morell, Marta; Quintela Garcia, Ines; Lázaro, Luisa; Menchón, José M.; Estivill, Xavier, 1955-; Carracedo, Ángel (Nature publishing group, 2016)
    Common single-nucleotide polymorphisms (SNPs) account for a large proportion of the heritability of obsessive-compulsive disorder (OCD). Co-ocurrence of OCD and schizophrenia is commoner than expected based on their ...
  • 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 ...