Publicacións en colaboración con investigadores/as de King Abdulaziz University (12)

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

  2. The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study

    Journal of Molecular and Cellular Cardiology, Vol. 102, pp. 3-9

2016

  1. PRKG1 and genetic diagnosis of early-onset thoracic aortic disease

    European Journal of Clinical Investigation, Vol. 46, Núm. 9, pp. 787-794

  2. The relationship between surname frequency and Y chromosome variation in Spain

    European Journal of Human Genetics, Vol. 24, Núm. 1, pp. 120-128

2015

  1. Association between SNPs of metalloproteinases and prostaglandin f2α receptor genes and latanoprost response in open-angle glaucoma

    Ophthalmology, Vol. 122, Núm. 5, pp. 1040-1048.e4

  2. 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

  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

  4. Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young

    Forensic Science International: Genetics, Vol. 18, pp. 160-170

  5. The potential of lipocalin-2/NGAL as biomarker for inflammatory and metabolic diseases

    Biomarkers, Vol. 20, Núm. 8, pp. 565-571

2014

  1. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

    Nature Genetics, Vol. 46, Núm. 8, pp. 826-836

  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