Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (6)

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. Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

    npj Genomic Medicine, Vol. 7, Núm. 1

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