Publicacións en colaboración con investigadores/as de King Abdulaziz University (9)

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

2016

  1. Comprehensive molecular testing in patients with high functioning autism spectrum disorder

    Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 784-785, pp. 46-52

  2. D5S2500 is an ambiguously characterized STR: Identification and description of forensic microsatellites in the genomics age.

    Forensic Science International: Genetics, Vol. 23, pp. 19-24

2015

  1. 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

  2. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Applied and Translational Genomics, Vol. 5, pp. 33-36

  3. Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data

    Forensic Science International: Genetics, Vol. 19, pp. 100-106

2014

  1. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

    Journal of Medical Genetics, Vol. 51, Núm. 7, pp. 475-478

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

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

  3. Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

    Clinica Chimica Acta, Vol. 437, pp. 88-92