Publicacións en colaboración con investigadores/as de Universitat de Barcelona (15)

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

2017

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

    PLoS ONE, Vol. 12, Núm. 8

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

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

2016

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

    PLoS ONE, Vol. 11, Núm. 12

2015

  1. 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

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

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

  3. 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

2014

  1. Identification of genetic alterations, as causative genetic defects in long QT syndrome, using next generation sequencing technology

    PLoS ONE, Vol. 9, Núm. 12

  2. Post-mortem genetic analysis in juvenile cases of sudden cardiac death

    Forensic Science International, Vol. 245, pp. 30-37

  3. Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications

    International Journal of Legal Medicine, Vol. 129, Núm. 1

  4. The role of clinical, genetic and segregation evaluation in sudden infant death

    Forensic Science International, Vol. 242, pp. 9-15

2013

  1. Genetics of arrhythmogenic right ventricular cardiomyopathy

    Journal of Medical Genetics, Vol. 50, Núm. 5, pp. 280-289

  2. Genetics of channelopathies associated to sudden cardiac death

    Sudden Cardiac Death: Epidemiology, Genetics and Predictive/Prevention Strategies (Nova Science Publishers, Inc.), pp. 45-66