Publicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (40)

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. Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

    Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113

  2. 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

  3. Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

    Frontiers in Medicine, Vol. 10

2022

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  2. Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome

    PLoS ONE, Vol. 17, Núm. 3 March

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 variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy

    Forensic Science International: Genetics, Vol. 52

  3. Molecular study of sticky platelet syndrome using exome sequencing

    Revista Facultad de Medicina, Vol. 69, Núm. 3

2019

  1. A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death

    Revista Espanola de Cardiologia, Vol. 72, Núm. 8, pp. 681-683

  2. Genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying drug-induced arrhythmia and sudden unexplained deaths

    Forensic Science International: Genetics, Vol. 42, pp. 203-212

  3. Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation

    Forensic Science International: Genetics, Vol. 43

2018

  1. Innovative Strategies in Heart Failure: Present and Future

    Archives of Medical Research, Vol. 49, Núm. 8, pp. 558-567

  2. Research update for articles published in EJCI in 2016

    European Journal of Clinical Investigation, Vol. 48, Núm. 10

  3. Sudden unexpected death in the young — Value of massive parallel sequencing in postmortem genetic analyses

    Forensic Science International, Vol. 293, pp. 70-76

2017

  1. Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection

    International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219

  2. The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study

    Journal of Molecular and Cellular Cardiology, Vol. 102, pp. 3-9

2016

  1. PRKG1 and genetic diagnosis of early-onset thoracic aortic disease

    European Journal of Clinical Investigation, Vol. 46, Núm. 9, pp. 787-794

  2. Prospective and retrospective diagnosis of barth syndrome aided by next-generation sequencing

    American Journal of Clinical Pathology, Vol. 145, Núm. 4, pp. 507-513

  3. The relationship between surname frequency and Y chromosome variation in Spain

    European Journal of Human Genetics, Vol. 24, Núm. 1, pp. 120-128