Publicacións nas que colabora con Beatríz Sobrino Rey (23)

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

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

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. 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. 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

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

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

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

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

  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. Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response

    Clinica Chimica Acta, Vol. 417, pp. 8-11

  2. 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

2009

  1. Development of predictive models of proliferative vitreoretinopathy based on genetic variables: The retina 4 project

    Investigative Ophthalmology and Visual Science, Vol. 50, Núm. 5, pp. 2384-2390

2005

  1. Hierarchical analysis of 30 Y-chromosome SNPs in European populations

    International Journal of Legal Medicine, Vol. 119, Núm. 1, pp. 10-15

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

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

2004

  1. SNP genotyping with single base extension-tag microarrays

    International Congress Series, Vol. 1261, Núm. C, pp. 331-333

  2. Selecting single nucleotide polymorphisms for forensic applications

    International Congress Series, Vol. 1261, Núm. C, pp. 18-20