Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario Pío del Río Hortega (5)

2022

  1. First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease

    American Journal of Respiratory and Critical Care Medicine, Vol. 206, Núm. 12, pp. 1522-1533

2021

  1. Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease

    Cells, Vol. 10, Núm. 6

2020

  1. Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

    Scientific Reports, Vol. 10, Núm. 1

  2. Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

    PLoS ONE, Vol. 15, Núm. 4

  3. Customized massive parallel sequencing panel for diagnosis of pulmonary arterial hypertension

    Genes, Vol. 11, Núm. 10, pp. 1-15