Publicacións en colaboración con investigadores/as de Hospital Universitario Puerta de Hierro (19)

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

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. 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. Nanomechanical Phenotypes in Cardiac Myosin-Binding Protein C Mutants That Cause Hypertrophic Cardiomyopathy

    ACS Nano, Vol. 15, Núm. 6, pp. 10203-10216

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

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

  4. 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. Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry

    Circulation: Genomic and Precision Medicine, Vol. 13, Núm. 6, pp. E003117

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

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

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

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

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. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2471-2481

  2. 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

2017

  1. Predictors of atrial fibrillation in hypertrophic cardiomyopathy

    Heart, Vol. 103, Núm. 9, pp. 672-678

2016

  1. Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation

    Journal of Heart and Lung Transplantation, Vol. 35, Núm. 5, pp. 625-635

  2. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

    Journal of the American College of Cardiology, Vol. 68, Núm. 22, pp. 2440-2451

2015

  1. Prediction of thrombo-embolic risk in patients with hypertrophic cardiomyopathy (HCM Risk-CVA)

    European Journal of Heart Failure, Vol. 17, Núm. 8, pp. 837-845

2013

  1. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

    Nature Medicine, Vol. 19, Núm. 2, pp. 193-201