Publications by the researcher in collaboration with Ramón Brugada Terradellas (31)

2021

  1. Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

    Cell Reports Medicine, Vol. 2, Núm. 4

2018

  1. Molecular autopsy in a cohort of infants died suddenly at rest

    Forensic Science International: Genetics, Vol. 37, pp. 54-63

  2. Role of copy number variants in sudden cardiac death and related diseases: Genetic analysis and translation into clinical practice

    European Journal of Human Genetics, Vol. 26, Núm. 7, pp. 1014-1025

  3. Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients

    PLoS ONE, Vol. 13, Núm. 7

2017

  1. Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

    PLoS ONE, Vol. 12, Núm. 8

  2. Characterization of genetic variation on transcription factor binding sites near human genes associated with Brugada syndrome

    I Conference of Pre-doctoral researchers: abstract book (Escola de Doctorat), pp. 149

  3. Genetic analysis in post-mortem samples with micro-ischemic alterations

    Forensic Science International, Vol. 271, pp. 120-125

2016

  1. Familial dilated cardiomyopathy caused by a novel frameshift in the BAG3 gene

    PLoS ONE, Vol. 11, Núm. 7

  2. Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

    International Journal of Legal Medicine, Vol. 130, Núm. 2, pp. 331-339

  3. Natural and undetermined sudden death: Value of post-mortem genetic investigation

    PLoS ONE, Vol. 11, Núm. 12

2015

  1. A Genetically Vulnerable Myocardium May Predispose to Myocarditis

    Journal of the American College of Cardiology

  2. Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

    Heart Rhythm, Vol. 12, Núm. 7, pp. 1636-1643

  3. Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

    Clinical Research in Cardiology, Vol. 104, Núm. 4, pp. 288-303

  4. Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies

    Scientific Reports, Vol. 5

  5. Erratum: Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant (Seizure (2015) 25 (65-67))

    Seizure

  6. Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

    Seizure, Vol. 25, pp. 65-67

  7. Genetic analysis of arrhythmogenic diseases in the era of NGS: The complexity of clinical decision-making in Brugada Syndrome

    PLoS ONE, Vol. 10, Núm. 7

  8. Genetic analysis, in silico prediction, and family segregation in long QT syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 1, pp. 79-85

  9. Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

    International Journal of Legal Medicine, Vol. 129, Núm. 3, pp. 495-504

  10. Rare titin (TTN) variants in diseases associated with sudden cardiac death

    International Journal of Molecular Sciences, Vol. 16, Núm. 10, pp. 25773-25787