Publicacións en colaboración con investigadores/as de Hospital General Universitario de Alicante (25)

2024

  1. Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers

    Journal of Medical Genetics, Vol. 61, Núm. 5, pp. 423-427

  2. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

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

2023

  1. Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation

    European heart journal. Cardiovascular Imaging, Vol. 25, Núm. 1, pp. 75-85

2022

  1. Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 12, pp. 1115-1126

  2. 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

  3. 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

  4. Natural History of MYH7-Related Dilated Cardiomyopathy

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

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 Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 78, Núm. 17, pp. 1682-1699

  3. 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

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

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

  3. 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. Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A Genes

    Revista Espanola de Cardiologia, Vol. 72, Núm. 2, pp. 176-178

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

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

2018

  1. Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results

    Revista Clinica Espanola, Vol. 218, Núm. 9, pp. 468-476

  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. Direct oral anticoagulants in patients with hypertrophic cardiomyopathy and atrial fibrillation

    International Journal of Cardiology, Vol. 248, pp. 232-238