Beatríz
Sobrino Rey
Universidade de Santiago de Compostela
Santiago de Compostela, EspañaPublicaciones en colaboración con investigadores/as de Universidade de Santiago de Compostela (38)
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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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
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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
2019
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Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)
Frontiers in Genetics, Vol. 10, Núm. OCT
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Mutational analysis of CFTR in the Ecuadorian population using next-generation sequencing
Gene, Vol. 696, pp. 28-32
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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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
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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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Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing
Nature, Vol. 535, Núm. 7613, pp. 561-565
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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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Inter-laboratory evaluation of SNP-based forensic identification by massively parallel sequencing using the Ion PGM™
Forensic Science International: Genetics, Vol. 17, pp. 110-121
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Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young
Forensic Science International: Genetics, Vol. 18, pp. 160-170
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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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Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders
Electrophoresis, Vol. 35, Núm. 21-22, pp. 3111-3116
2013
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Next-Generation Sequencing Technologies
Encyclopedia of Forensic Sciences: Second Edition (Elsevier Inc.), pp. 278-281