Publicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (16)

2023

  1. Cribriform morular thyroid carcinoma: a case report with pathological, immunohistochemical, and molecular findings suggesting an origin from follicular cells (or their endodermal precursors)

    Virchows Archiv, Vol. 482, Núm. 3, pp. 615-623

  2. 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

2018

  1. Identification of genes carrying rare variants of moderate to large effect in schizophrenia: A replication study

    Schizophrenia Research

  2. Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples

    European Archives of Psychiatry and Clinical Neuroscience, Vol. 268, Núm. 6, pp. 585-592

  3. Whole exome sequencing approach to analysis of the origin of cancer stem cells in patients with head and neck squamous cell carcinoma

    Journal of Oral Pathology and Medicine, Vol. 47, Núm. 10, pp. 938-944

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. Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing

    Nature, Vol. 535, Núm. 7613, pp. 561-565

  2. Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states

    Schizophrenia Research, Vol. 174, Núm. 1-3, pp. 10-16

2015

  1. An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders

    Clinica Chimica Acta, Vol. 445, pp. 34-40

  2. Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility

    Journal of Psychiatric Research, Vol. 66-67, pp. 38-44

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. 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

2013

  1. Next-Generation Sequencing Technologies

    Encyclopedia of Forensic Sciences: Second Edition (Elsevier Inc.), pp. 278-281

2011

  1. Genetic association study of age-related macular degeneration in the Spanish population

    Acta Ophthalmologica, Vol. 89, Núm. 1

2010

  1. New technologies in the genetic approach to sudden cardiac death in the young

    Forensic Science International, Vol. 203, Núm. 1-3, pp. 15-24

2005

  1. SNPs in forensic genetics: A review on SNP typing methodologies

    Forensic Science International, Vol. 154, Núm. 2-3, pp. 181-194