Publicaciones en colaboración con investigadores/as de Institut d'Investigació Biomédica de Bellvitge (16)

2024

  1. Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis

    ERJ Open Research, Vol. 10, Núm. 1

  2. 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

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

    Nature, Vol. 623, Núm. 7988, pp. 803-813

  3. Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine

    Frontiers in Medicine, Vol. 10

  4. 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. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2021

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

    Science immunology, Vol. 6, Núm. 62

2020

  1. Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis

    American Journal of Respiratory and Critical Care Medicine, Vol. 201, Núm. 5, pp. 564-574

  2. Prevalence and genotype distribution of cervical human papilomavirus infection in the pre-vaccination era: A population-based study in the Canary Islands

    BMJ Open, Vol. 10, Núm. 9

  3. The Value of Mouse Models of Rare Diseases: A Spanish Experience

    Frontiers in Genetics, Vol. 11

2017

  1. ERBP guideline on management of patients with diabetes and chronic kidney disease stage 3B or higher. Metformin for all?

    Nefrologia, Vol. 37, Núm. 6, pp. 567-571

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

2015

  1. Digenic inheritance in cystinuria mouse model

    PLoS ONE, Vol. 10, Núm. 9

2013

  1. β-adrenergic receptors activate exchange protein directly activated by cAMP (Epac), translocate munc13-1, and enhance the Rab3A-RIM1 α interaction to potentiate glutamate release at cerebrocortical nerve terminals

    Journal of Biological Chemistry, Vol. 288, Núm. 43, pp. 31370-31385