Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (11)

2024

  1. Extracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome

    Circulation Research, Vol. 134, Núm. 8, pp. E52-E71

  2. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

    Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651

  3. Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004404

2023

  1. A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 120

  2. Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

    European Heart Journal, Vol. 44, Núm. 48, pp. 5064-5073

  3. Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation

    European heart journal. Cardiovascular Imaging, Vol. 25, Núm. 1, pp. 75-85

  4. ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium

    Revista Espanola de Cardiologia, Vol. 76, Núm. 5, pp. 301-311

  5. Selection of the best of 2022 in familial heart disease and cardiovascular genetics

    REC: CardioClinics, Vol. 58, pp. S68-S73

2022

  1. Natural History of MYH7-Related Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 15, pp. 1447-1461

  2. Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome

    PLoS ONE, Vol. 17, Núm. 3 March

2021

  1. Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 78, Núm. 17, pp. 1682-1699