Publicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (14)

2024

  1. Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies

    Genes, Vol. 15, Núm. 6

2023

  1. A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve

    Circulation, Vol. 147, Núm. 1, pp. 47-65

  2. 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

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

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

  4. iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy

    Circulation Research, Vol. 133, Núm. 2, pp. 108-119

2022

  1. Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry

    ESC Heart Failure, Vol. 9, Núm. 4, pp. 2189-2198

2021

  1. Clinical utility of genetic testing in patients with dilated cardiomyopathy

    Medicina Clinica, Vol. 156, Núm. 10, pp. 485-495

2020

  1. Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy

    Gene, Vol. 746

  2. Mortality among Referral Patients with Hypertrophic Cardiomyopathy vs the General European Population

    JAMA Cardiology, Vol. 5, Núm. 1, pp. 73-80

  3. Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

    Heart, Vol. 106, Núm. 17, pp. 1342-1348

  4. Prognostic implications of pathogenic truncating variants in the TTN gene

    International Journal of Cardiology, Vol. 316, pp. 180-183

2019

  1. Effectiveness of the 2014 european society of cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: A systematic review and meta-analysis

    Heart, Vol. 105, Núm. 8, pp. 623-631

2018

  1. The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: Baseline data and contemporary management of adult patients with cardiomyopathies

    European Heart Journal, Vol. 39, Núm. 20, pp. 1784-1793

2007

  1. Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 50, Núm. 25, pp. 2399-2403