Publicaciones en colaboración con investigadores/as de Centro de Regulación Genómica (20)

2024

  1. Erratum: Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome medicine (2023) 15 1 (22))

    Genome medicine

  2. The mediating role of neuroimaging-derived biological brain age in the association between risk factors for dementia and cognitive decline in middle-aged and older individuals without cognitive impairment: a cohort study

    The Lancet Healthy Longevity, Vol. 5, Núm. 4, pp. e276-e286

2023

  1. Engineered live bacteria suppress Pseudomonas aeruginosa infection in mouse lung and dissolve endotracheal-tube biofilms

    Nature Biotechnology, Vol. 41, Núm. 8, pp. 1089-1098

  2. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

2022

  1. Emergence of 16S rRNA methyltransferases among carbapenemase-producing Enterobacterales in Spain studied by whole-genome sequencing

    International Journal of Antimicrobial Agents, Vol. 59, Núm. 1

  2. PLCγ1/PKCθ Downstream Signaling Controls Cutaneous T-Cell Lymphoma Development and Progression

    Journal of Investigative Dermatology, Vol. 142, Núm. 5, pp. 1391-1400.e15

2021

  1. Activity of imipenem/relebactam against a Spanish nationwide collection of carbapenemase-producing Enterobacterales

    Journal of Antimicrobial Chemotherapy, Vol. 76, Núm. 6, pp. 1498-1510

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  3. SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

    Journal of Experimental Medicine, Vol. 218, Núm. 6

  4. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

    Science immunology, Vol. 6, Núm. 62

2019

  1. Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis

    Annals of the Rheumatic Diseases, Vol. 78, Núm. 3, pp. 355-364

  2. Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

    Human Mutation, Vol. 40, Núm. 10, pp. 1700-1712

  3. The circulating transcriptome as a source of biomarkers for melanoma

    Cancers, Vol. 11, Núm. 1

2018

  1. Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus

    Arthritis Research and Therapy, Vol. 20, Núm. 1

2017

  1. Phosphorylation of filamin A regulates chemokine receptor CCR2 recycling

    Journal of Cell Science, Vol. 130, Núm. 2, pp. 490-501

  2. Shared Oncogenic Pathways Implicated in Both Virus-Positive and UV-Induced Merkel Cell Carcinomas

    Journal of Investigative Dermatology, Vol. 137, Núm. 1, pp. 197-206

  3. Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

    Scientific Reports, Vol. 7

2016

  1. Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia

    Translational Psychiatry, Vol. 6, Núm. 3

2014

  1. DREAM controls the on/off switch of specific activity-dependent transcription pathways

    Molecular and Cellular Biology, Vol. 34, Núm. 5, pp. 877-887

2009

  1. Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency

    Mitochondrion, Vol. 9, Núm. 5, pp. 299-305