Publications by the researcher in collaboration with Pilar Escribano Subías (8)

2023

  1. Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension

    American Journal of Respiratory Cell and Molecular Biology, Vol. 69, Núm. 2, pp. 147-158

  2. Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature

    Genes, Vol. 14, Núm. 10

  3. Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension

    Revista Espanola de Cardiologia, Vol. 76, Núm. 6, pp. 460-467

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