Genética
Servicio
Publicaciones en las que colabora con Beatríz Sobrino Rey (18)
2024
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Design, synthesis and validation of a new Crimped Head-Piece for DNA-Encoded libraries generation
Bioorganic and Medicinal Chemistry, Vol. 99
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Prevalence and population genetic analyses of parasites in invasive Vespa velutina and native Hymenoptera
Journal of Invertebrate Pathology, Vol. 207
2023
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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
2020
2018
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Identification of genes carrying rare variants of moderate to large effect in schizophrenia: A replication study
Schizophrenia Research
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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
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tagFinder: A Novel Tag Analysis Methodology That Enables Detection of Molecules from DNA-Encoded Chemical Libraries
SLAS Discovery, Vol. 23, Núm. 5, pp. 397-404
2017
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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
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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
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An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders
Clinica Chimica Acta, Vol. 445, pp. 34-40
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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
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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
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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
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Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders
Electrophoresis, Vol. 35, Núm. 21-22, pp. 3111-3116
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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
2010
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New technologies in the genetic approach to sudden cardiac death in the young
Forensic Science International, Vol. 203, Núm. 1-3, pp. 15-24
2007
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Evaluation of the Genplex SNP typing system and a 49plex forensic marker panel
Forensic Science International: Genetics, Vol. 1, Núm. 2, pp. 180-185
2001
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The use of the LightCycler for the detection of Y chromosome SNPs
Forensic Science International, Vol. 118, Núm. 2-3, pp. 163-168