Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (17)

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

2021

  1. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

    Scientific Reports, Vol. 11, Núm. 1

2019

  1. Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum

    Cancers, Vol. 11, Núm. 8

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 identifies new host genomic susceptibility factors in empyema caused by streptococcus pneumoniae in children: A pilot study

    Genes, Vol. 9, Núm. 5

2017

  1. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

    Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313

  2. 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

  3. Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. 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. Mitogenomes from The 1000 Genome Project reveal new Near Eastern features in present-day Tuscans

    PLoS ONE, Vol. 10, Núm. 3

  3. 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 genome-wide study of modern-day Tuscans: Revisiting Herodotus's theory on the origin of the Etruscans

    PLoS ONE, Vol. 9, Núm. 9

  2. 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

  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

2012

  1. GDF: Dealing with high-throughput genotyping multiplatform data for medical and population genetic applications

    Journal of Proteomics and Bioinformatics, Vol. 5, Núm. 1, pp. 1-6