Publicacións (191) Publicacións de Lorenzo Monserrat Iglesias

2024

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

    International Journal of Cardiology, Vol. 395

2023

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

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

  2. 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

  3. 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

  4. Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

    Circulation: Genomic and Precision Medicine, Vol. 16, Núm. 5, pp. 434-441

  5. iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy

    Circulation Research, Vol. 133, Núm. 2, pp. 108-119

2022

  1. A novel Troponin I mutation associated with severe restrictive cardiomyopathy - A case report of a 27-year-old woman with fatigue

    European Heart Journal - Case Reports, Vol. 6, Núm. 2

  2. Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach

    Pharmacogenomics Journal, Vol. 22, Núm. 3, pp. 180-187

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

    Scientific Reports, Vol. 12, Núm. 1

  4. 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

  5. Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia Treated with β-Blockers

    JAMA Cardiology, Vol. 7, Núm. 5, pp. 504-512

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

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

2021

  1. A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

    npj Genomic Medicine, Vol. 6, Núm. 1

  2. 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

  3. Clinical utility of genetic testing in patients with dilated cardiomyopathy

    Medicina Clinica, Vol. 156, Núm. 10, pp. 485-495

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

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

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

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

  6. Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology

    npj Genomic Medicine, Vol. 6, Núm. 1

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

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

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

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