Publications by the researcher in collaboration with María Sabater-Molina (16)

2024

  1. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

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

2023

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

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

  2. 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

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. Natural History of MYH7-Related Dilated Cardiomyopathy

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

  3. Polymorphisms in ACE, ACE2, AGTR1 genes and severity of COVID-19 disease

    PloS one, Vol. 17, Núm. 2, pp. e0263140

2021

  1. 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

  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. Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy

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

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

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

2017

  1. Nueva mutación fundadora en MYBPC3: comparación fenotípica con la mutación de MYBPC3 más frecuente en España

    Revista Espanola de Cardiologia, Vol. 70, Núm. 2, pp. 105-114

2013

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

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

2010

  1. Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3

    Heart, Vol. 96, Núm. 24, pp. 1980-1984