Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (7)

2023

  1. NLRP3 inflammasome activation and symptom burden in KRAS-mutated CMML patients is reverted by IL-1 blocking therapy

    Cell Reports Medicine, Vol. 4, Núm. 12

2022

  1. Clonal heterogeneity and rates of specific chromosome gains are risk predictors in childhood high-hyperdiploid B-cell acute lymphoblastic leukemia

    Molecular Oncology, Vol. 16, Núm. 16, pp. 2899-2919

2021

  1. Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

    Human Genomics, Vol. 15, Núm. 1

2020

  1. Helpful criteria when implementing ngs panels in childhood lymphoblastic leukemia

    Journal of Personalized Medicine, Vol. 10, Núm. 4, pp. 1-15

  2. Novel dominant kcnq2 exon 7 partial in-frame duplication in a complex epileptic and neurodevelopmental delay syndrome

    International Journal of Molecular Sciences, Vol. 21, Núm. 12, pp. 1-11

2019

  1. Association of polyps with early-onset colorectal cancer and throughout surveillance: novel clinical and molecular implications

    Cancers, Vol. 11, Núm. 12

2016

  1. Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

    Blood, Vol. 128, Núm. 9, pp. 1282-1289