Publicacións en colaboración con investigadores/as de Universitat de Girona (26)

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

    Scientific Reports, Vol. 5

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

    Seizure

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

    Seizure, Vol. 25, pp. 65-67

  6. 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

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

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

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

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

2014

  1. Brugada syndrome and p.E61X_RANGRF

    Cardiology Journal, Vol. 21, Núm. 2, pp. 121-127

  2. Genética de la muerte súbita inexplicada

    Medicina Clinica, Vol. 142, Núm. 6, pp. 265-269

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

    PLoS ONE, Vol. 9, Núm. 12

  4. Negative autopsy and sudden cardiac death

    International Journal of Legal Medicine, Vol. 128, Núm. 4, pp. 599-606