Publicaciones en colaboración con investigadores/as de Erasmus University Medical Center (10)

2023

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

    Nature

  2. 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

  3. The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities — proceedings from the IPOPI global multi-stakeholders’ summit (June 2022)

    Frontiers in Immunology, Vol. 14

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

2020

  1. Eyelid Disorders in Ophthalmology Practice: Results from a Large International Epidemiological Study in Eleven Countries

    Ophthalmology and Therapy, Vol. 9, Núm. 3, pp. 597-608

2019

  1. Recommendations for the management of hemophagocytic lymphohistiocytosis in adults

    Blood, Vol. 133, Núm. 23, pp. 2465-2477

2017

  1. New insights into the genetic component of non-infectious uveitis through an Immunochip strategy

    Journal of Medical Genetics, Vol. 54, Núm. 1, pp. 38-46

2013

  1. Early steps of double-strand break repair in Bacillus subtilis

    DNA Repair, Vol. 12, Núm. 3, pp. 162-176

2012

  1. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update

    Clinical and Experimental Immunology, Vol. 167, Núm. 1, pp. 108-119

2009

  1. Bacillus subtilis polynucleotide phosphorylase 3′-to-5′ DNase activity is involved in DNA repair

    Nucleic Acids Research, Vol. 37, Núm. 12, pp. 4157-4169