Publicacions en col·laboració amb investigadors/es de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (6)

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

2022

  1. Impact of cytomegalovirus infection prior to hematopoietic stem cell transplantation in children with inborn errors of immunity

    European Journal of Pediatrics, Vol. 181, Núm. 11, pp. 3889-3898

2020

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

    Frontiers in Immunology, Vol. 11

2019

  1. Fatal pneumocystis jirovecii and cytomegalovirus infections in an infant with normal trecs count: Pitfalls of newborn screening for severe combined immunodeficiency

    Pediatric Infectious Disease Journal, Vol. 38, Núm. 2, pp. 157-160

  2. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2017

  1. Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16

    Journal of Allergy and Clinical Immunology: In Practice, Vol. 5, Núm. 4, pp. 1146-1148