Publicaciones en colaboración con investigadores/as de University College London (9)

2023

  1. 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

  2. Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

    Circulation: Genomic and Precision Medicine, Vol. 16, Núm. 5, pp. 434-441

2022

  1. Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant

    Revista Espanola de Cardiologia, Vol. 75, Núm. 3, pp. 242-250

  2. Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

    European heart journal, Vol. 43, Núm. 32, pp. 3053-3067

2021

  1. Association of Left Ventricular Systolic Dysfunction among Carriers of Truncating Variants in Filamin C with Frequent Ventricular Arrhythmia and End-stage Heart Failure

    JAMA Cardiology, Vol. 6, Núm. 8, pp. 891-901

  2. Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy

    European Journal of Heart Failure, Vol. 23, Núm. 8, pp. 1276-1286

2020

  1. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

    Journal of the American College of Cardiology, Vol. 76, Núm. 2, pp. 186-197

  2. Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

    Circulation: Heart Failure, Vol. 13, Núm. 10, pp. E006832

  3. The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals

    European Journal of Medical Genetics, Vol. 63, Núm. 12