Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (10)

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

2019

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

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

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

    Forensic Science International: Genetics, Vol. 43

2015

  1. Broad-based molecular autopsy: A potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood

    Archives of Disease in Childhood, Vol. 100, Núm. 10, pp. 952-956

2014

  1. Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders

    Electrophoresis, Vol. 35, Núm. 21-22, pp. 3111-3116

2012

  1. Sarcomeric gene mutations in sudden infant death syndrome (SIDS)

    Forensic Science International, Vol. 219, Núm. 1-3, pp. 278-281

2011

  1. Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

    International Journal of Legal Medicine, Vol. 125, Núm. 4, pp. 565-572

2010

  1. A new approach to long QT syndrome mutation detection by Sequenom MassARRAY® system

    Electrophoresis, Vol. 31, Núm. 10, pp. 1648-1655

  2. Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy

    Annals of Clinical and Laboratory Science, Vol. 40, Núm. 3, pp. 285-289

2009

  1. Involvement of hypertrophic cardiomyopathy genes in sudden infant death syndrome (SIDS)

    Forensic Science International: Genetics Supplement Series, Vol. 2, Núm. 1, pp. 495-496