Publicacións en colaboración con investigadores/as de Hospital Virgen de la Arrixaca (37)

2024

  1. A cost-effectiveness analysis of hypertrophic cardiomyopathy sudden cardiac death risk algorithms for implantable cardioverter defibrillator decision-making

    European Heart Journal - Quality of Care and Clinical Outcomes, Vol. 10, Núm. 4, pp. 285-293

  2. Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study

    American Journal of Kidney Diseases

2023

  1. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

    European Heart Journal - Quality of Care and Clinical Outcomes, Vol. 9, Núm. 1, pp. 42-53

  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

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. Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry

    ESC Heart Failure, Vol. 8, Núm. 1, pp. 95-105

  4. Incidence, diagnosis, and outcome of immune-mediated thrombotic thrombocytopenic purpura: A nationwide survey by the Spanish registry of thrombotic thrombocytopenic purpura

    Journal of Clinical Apheresis, Vol. 36, Núm. 4, pp. 563-573

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

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

  4. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

    Journal of the American College of Cardiology, Vol. 75, Núm. 15, pp. 1772-1784

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. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467

  2. 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

2017

  1. Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

    Journal of Translational Medicine, Vol. 15, Núm. 1

  2. Multicentric study of the effect of pre-analytical variables in the quality of plasma samples stored in biobanks using different complementary proteomic methods

    Journal of Proteomics, Vol. 150, pp. 109-120

2016

  1. European cardiomyopathy pilot registry: EURObservational research programme of the European society of cardiology

    European Heart Journal, Vol. 37, Núm. 2, pp. 164-173