Publikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (4)

2025

  1. IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients

    NAR GENOMICS AND BIOINFORMATICS, Vol. 7, Núm. 2

  2. Spanish Consensus on the Diagnosis and Management of Patients With Activated PI3K Delta Syndrome (APDS)

    Journal of investigational allergology & clinical immunology, Vol. 35, Núm. 2, pp. 87-102

2024

  1. Unveiling the value of C-reactive protein as a severity biomarker and the IL4/IL13 pathway as a therapeutic target in recessive dystrophic epidermolysis bullosa: A multiparametric cross-sectional study

    Experimental Dermatology, Vol. 33, Núm. 8

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