Publicaciones en colaboración con investigadores/as de Hospital Universitario Reina Sofia (6)

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

2023

  1. 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

2020

  1. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  2. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

2005

  1. The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping

    Journal of Human Genetics, Vol. 50, Núm. 7, pp. 370-374

2003

  1. De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

    Human Genetics, Vol. 113, Núm. 6, pp. 480-485