Publicaciones en colaboración con investigadores/as de Aarhus University Hospital (13)

2023

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

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

  2. Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy

    Circulation

2022

  1. Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 79, Núm. 20, pp. 1986-1997

  2. Natural History of MYH7-Related Dilated Cardiomyopathy

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

  3. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

    Circulation. Arrhythmia and electrophysiology, Vol. 15, Núm. 5, pp. e010075

  4. The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

    European Journal of Preventive Cardiology, Vol. 29, Núm. 4, pp. 645-653

2021

  1. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

    European Heart Journal, Vol. 42, Núm. 32, pp. 3063-3073

  2. 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

  3. 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. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial

    The Lancet, Vol. 396, Núm. 10253, pp. 759-769

2019

  1. Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

    JAMA Cardiology, Vol. 4, Núm. 9, pp. 918-927

2015

  1. Atlas of the clinical genetics of human dilated cardiomyopathy

    European Heart Journal, Vol. 36, Núm. 18, pp. 1123-1135