Publicaciones (78) Publicaciones en las que ha participado algún/a investigador/a

2019

  1. A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death

    Revista Espanola de Cardiologia, Vol. 72, Núm. 8, pp. 681-683

  2. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

    Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 5

  3. A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  4. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Nature Communications, Vol. 10, Núm. 1

  5. Assessing cross-national invariance of the Community Assessment of Psychic Experiences (CAPE)

    Psychological Medicine, Vol. 49, Núm. 15, pp. 2600-2607

  6. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

    Nature Communications, Vol. 10, Núm. 1

  7. Association of GSTP1 and ERCC1 polymorphisms with toxicity in locally advanced head and neck cancer platinum-based chemoradiotherapy treatment

    Head and Neck, Vol. 41, Núm. 8, pp. 2704-2715

  8. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

    Nature Genetics

  9. BDNF genetic variants and methylation: effects on cognition in major depressive disorder

    Translational Psychiatry, Vol. 9, Núm. 1

  10. BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

    Human Mutation, Vol. 40, Núm. 10, pp. 1781-1796

  11. Beyond the CSI effect: the keys to good forensic genetics communication

    Mètode Science Studies Journal: Annual Review, Núm. 9, pp. 30-37

  12. Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

    Scientific Reports, Vol. 9, Núm. 1

  13. Characterization of gut microbiota composition in HIV-infected patients with metabolic syndrome

    Journal of Physiology and Biochemistry, Vol. 75, Núm. 3, pp. 299-309

  14. Chromatin establishes an immature version of neuronal protocadherin selection during the naive-to-primed conversion of pluripotent stem cells

    Nature Genetics, Vol. 51, Núm. 12, pp. 1691-1701

  15. Circulating metabolic biomarkers of screen-detected prostate cancer in the ProtecT study

    Cancer Epidemiology Biomarkers and Prevention, Vol. 28, Núm. 1, pp. 208-216

  16. Correction to: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (Nature Genetics, (2018), 50, 7, (928-936), 10.1038/s41588-018-0142-8)

    Nature Genetics

  17. Depresión como factor de riesgo para la Enfermedad de Alzheimer: evidencias y papel de enfermería

    Enfermería global: revista electrónica trimestral de enfermería, Vol. 18, Núm. 3, pp. 612-642

  18. Development and validation of the EUROFORGEN NAME (North African and Middle Eastern) ancestry panel

    Forensic Science International: Genetics, Vol. 42, pp. 260-267

  19. Dietary care for ADPKD patients: Current status and future directions

    Nutrients, Vol. 11, Núm. 7

  20. Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene–environment interaction approach

    Translational Psychiatry, Vol. 9, Núm. 1