Publicacións en colaboración con investigadores/as de Universidad Francisco de Vitoria (23)

2024

  1. Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy

    Journal of the American Heart Association, Vol. 13, Núm. 21, pp. e036208

  2. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

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

  3. Pregnancy in women with dilated cardiomyopathy genetic variants

    Revista Espanola de Cardiologia

  4. Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy

    ESC Heart Failure

2023

  1. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

    Amyloid, Vol. 30, Núm. 2, pp. 199-207

2022

  1. Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy

    European Journal of Heart Failure, Vol. 24, Núm. 7, pp. 1183-1196

  2. 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

  3. Natural History of MYH7-Related Dilated Cardiomyopathy

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

  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. 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

  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. Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction

    Journal of the American College of Cardiology, Vol. 78, Núm. 7, pp. 643-662

  4. 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

  5. Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy

    Journal of Biological Chemistry, Vol. 297, Núm. 1

  6. Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry

    Revista Espanola de Cardiologia, Vol. 74, Núm. 3, pp. 216-224

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. 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

  2. Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1