Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (25)

2024

  1. Engineered T cells secreting anti-BCMA T cell engagers control multiple myeloma and promote immune memory in vivo

    Science translational medicine, Vol. 16, Núm. 734, pp. eadg7962

  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. Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

    GeroScience, Vol. 45, Núm. 1, pp. 543-553

  3. Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study

    Andrology, Vol. 11, Núm. 1, pp. 24-31

  4. Genetic signature detected in T cell receptors from patients with severe COVID-19

    iScience, Vol. 26, Núm. 10

  5. Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension

    American Journal of Respiratory Cell and Molecular Biology, Vol. 69, Núm. 2, pp. 147-158

  6. 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

  7. The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent

    Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895

2022

  1. Human genetic and immunological determinants of critical COVID-19 pneumonia

    Nature, Vol. 603, Núm. 7902, pp. 587-598

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

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

2021

  1. Low factor H-related 5 levels contribute to infection-triggered haemolytic uraemic syndrome and membranoproliferative glomerulonephritis

    Clinical Kidney Journal, Vol. 14, Núm. 2, pp. 707-709

  2. Molecular bases for the association of FHR-1 with atypical hemolytic uremic syndrome and other diseases

    Blood, Vol. 137, Núm. 25, pp. 3484-3494

2020

  1. CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

    Human Genetics, Vol. 139, Núm. 10, pp. 1209-1231

2018

  1. Acquired angioedema with anti–C1-inhibitor autoantibodies during assisted reproduction techniques

    Journal of Investigational Allergology and Clinical Immunology

  2. Human plasma C3 is essential for the development of memory B, but not T, lymphocytes

    Journal of Allergy and Clinical Immunology, Vol. 141, Núm. 3, pp. 1151-1154.e14

2017

  1. FHR-1 binds to C-reactive protein and enhances rather than inhibits complement activation

    Journal of Immunology, Vol. 199, Núm. 1, pp. 292-303

  2. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

    Clinical Genetics, Vol. 91, Núm. 1, pp. 46-53

2016

  1. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

    Neurogenetics, Vol. 17, Núm. 4, pp. 259-263

2015

  1. Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: Transactivation and phenotypic variability

    PLoS ONE, Vol. 10, Núm. 3