Publications by the researcher in collaboration with J. Jiménez Jáimez (28)

2024

  1. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

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

  2. Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy

    JACC: Clinical Electrophysiology, Vol. 10, Núm. 6, pp. 1178-1190

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

    International Journal of Cardiology, Vol. 395

  4. Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004404

2023

  1. A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 120

  2. Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

    European Heart Journal, Vol. 44, Núm. 48, pp. 5064-5073

  3. 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

  4. ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium

    Revista Espanola de Cardiologia, Vol. 76, Núm. 5, pp. 301-311

2022

  1. Characterization of hereditary transthyretin cardiac amyloidosis in Spain

    Revista Espanola de Cardiologia, Vol. 75, Núm. 6, pp. 488-495

  2. Natural History of MYH7-Related Dilated Cardiomyopathy

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

  3. Selection of the best of 2021 in familial heart disease and cardiovascular genetics

    REC: CardioClinics, Vol. 57, pp. S54-S59

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. Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction

    Journal of the American College of Cardiology, Vol. 78, Núm. 7, pp. 643-662

  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

  6. Selección de lo mejor del año 2020 en cardiopatías familiares y genética cardiovascular

    REC: CardioClinics, Vol. 56, Núm. 0, pp. 9-14

  7. Selection of the best of 2020 in familial heart disease and cardiovascular genetics

    REC: CardioClinics, Vol. 56, pp. 9-14

2020

  1. 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. Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family

    Revista Espanola de Cardiologia, Vol. 72, Núm. 4, pp. 324-332