Publicaciones en colaboración con investigadores/as de Vall d'Hebron Institut de Recerca (16)

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

    Nature

  2. Neuroblastoma RAS viral oncogene homolog (N-RAS) deficiency aggravates liver injury and fibrosis

    Cell death & disease, Vol. 14, Núm. 8, pp. 514

  3. 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. Fat: Quality, or quantity? what matters most for the progression of metabolic associated fatty liver disease (mafld)

    Biomedicines, Vol. 9, Núm. 10

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

    Science, Vol. 370, Núm. 6515

  2. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

    Journal of Allergy and Clinical Immunology, Vol. 146, Núm. 4, pp. 901-911

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

    Science, Vol. 370, Núm. 6515

  4. Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

    Frontiers in Immunology, Vol. 11

2019

  1. Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations

    Clinical Immunology, Vol. 201, pp. 30-34

  2. Multi-centre validation of a flow cytometry method to identify optimal responders to interferon-beta in multiple sclerosis

    Clinica Chimica Acta, Vol. 488, pp. 135-142

  3. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

    Journal of Allergy and Clinical Immunology, Vol. 143, Núm. 1, pp. 359-368

2018

  1. Expression of microRNA-155 in inflammatory cells modulates liver injury

    Hepatology, Vol. 68, Núm. 2, pp. 691-706

2017

  1. A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis

    Journal of Allergy and Clinical Immunology, Vol. 139, Núm. 4, pp. 1302-1310.e4