Publicacions en col·laboració amb investigadors/es de University of Innsbruck (3)

2024

  1. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency

    Clinical chemistry, Vol. 70, Núm. 5, pp. 737-746

  2. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

    The Journal of experimental medicine, Vol. 221, Núm. 2

2020

  1. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers

    Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 269-273