Publicacións en colaboración con investigadores/as de Harvard Medical School (63)

2023

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

    Nature

  2. Correction: “The 5th edition of The World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms” Leukemia. 2022 Jul;36(7):1720–1748 (Leukemia, (2022), 36, 7, (1720-1748), 10.1038/s41375-022-01620-2)

    Leukemia

  3. Expression of HMGCS2 in intestinal epithelial cells is downregulated in inflammatory bowel disease associated with endoplasmic reticulum stress

    Frontiers in immunology, Vol. 14, pp. 1185517

  4. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

    Journal of Allergy and Clinical Immunology, Vol. 151, Núm. 4, pp. 1081-1095

  5. Worldwide outcomes of nasal transposition of the split lateral rectus muscle for strabismus associated with 3rd-nerve palsy

    British Journal of Ophthalmology, Vol. 107, Núm. 5, pp. 725-731

2022

  1. Genetic and pharmacological inhibition of XBP1 protects against APAP hepatotoxicity through the activation of autophagy

    Cell death & disease, Vol. 13, Núm. 2, pp. 143

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

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

  3. Secondary Immune Deficiency and Primary Immune Deficiency Crossovers: Hematological Malignancies and Autoimmune Diseases

    Frontiers in Immunology, Vol. 13

  4. Splicing factor SRSF1 is essential for CD8 T cell function and host antigen-specific viral immunity

    Frontiers in Immunology, Vol. 13

  5. Structural, biochemical, and functional properties of the Rap1-Interacting Adaptor Molecule (RIAM)

    Biomedical journal, Vol. 45, Núm. 2, pp. 289-298

2021

  1. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

    Journal of Allergy and Clinical Immunology, Vol. 147, Núm. 2, pp. 520-531

  2. Differential role of MLKL in alcohol-associated and non-alcohol-associated fatty liver diseases in mice and humans

    JCI Insight, Vol. 6, Núm. 4

  3. Molecular design of the γδT cell receptor ectodomain encodes biologically fit ligand recognition in the absence of mechanosensing

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 118, Núm. 26

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. JNK-mediated disruption of bile acid homeostasis promotes intrahepatic cholangiocarcinoma

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 117, Núm. 28, pp. 16492-16499

  5. TFOS European Ambassador meeting: Unmet needs and future scientific and clinical solutions for ocular surface diseases

    Ocular Surface

2018

  1. The T Cell Antigen Receptor α Transmembrane Domain Coordinates Triggering through Regulation of Bilayer Immersion and CD3 Subunit Associations

    Immunity, Vol. 49, Núm. 5, pp. 829-841.e6

  2. The genetic heterogeneity of Arab populations as inferred from HLA genes

    PLoS ONE, Vol. 13, Núm. 3