Publicacións en colaboración con investigadores/as de University College London (34)

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. Proposed diagnostic criteria for arrhythmogenic cardiomyopathy: European Task Force consensus report

    International Journal of Cardiology, Vol. 395

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

2022

  1. Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

    Scientific Reports, Vol. 12, Núm. 1

  2. Subclinical Hypertrophic Cardiomyopathy in Elite Athletes: Knowledge Gaps Persist

    JACC: Case Reports, Vol. 4, Núm. 2, pp. 94-98

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

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

  3. Prognostic value of reduced heart rate reserve during exercise in hypertrophic cardiomyopathy

    Journal of Clinical Medicine, Vol. 10, Núm. 7

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. Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy

    Circulation: Genomic and Precision Medicine, Vol. 13, Núm. 3, pp. E002905

  5. Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy

    Clinical Genetics, Vol. 98, Núm. 1, pp. 86-90

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

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

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

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

  8. The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals

    European Journal of Medical Genetics, Vol. 63, Núm. 12

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

  2. Genetic Mosaicism in Calmodulinopathy

    Circulation: Genomic and Precision Medicine, Vol. 12, Núm. 9, pp. 375-385

  3. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease – A systematic literature review by a European panel of experts

    Molecular Genetics and Metabolism, Vol. 126, Núm. 3, pp. 212-223