Catarina
Allegue Toscano
Publicaciones (45) Publicaciones de Catarina Allegue Toscano
2024
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CARTAR: a comprehensive web tool for identifying potential targets in chimeric antigen receptor therapies using TCGA and GTEx data
Briefings in Bioinformatics, Vol. 25, Núm. 4
2022
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Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies
Cells, Vol. 11, Núm. 9
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Identification of Sodium Transients Through NaV1.5 Channels as Regulators of Differentiation in Immortalized Dorsal Root Ganglia Neurons
Frontiers in Cellular Neuroscience, Vol. 16
2021
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Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants
Cell Reports Medicine, Vol. 2, Núm. 4
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Identification of Novel Regulators of Zalcitabine-Induced Neuropathic Pain
ACS Chemical Neuroscience, Vol. 12, Núm. 14, pp. 2619-2628
2020
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Experimental models to study autism spectrum disorders: Hipscs, rodents and zebrafish
Genes, Vol. 11, Núm. 11, pp. 1-45
2019
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Chromatin establishes an immature version of neuronal protocadherin selection during the naive-to-primed conversion of pluripotent stem cells
Nature Genetics, Vol. 51, Núm. 12, pp. 1691-1701
2018
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Molecular autopsy in a cohort of infants died suddenly at rest
Forensic Science International: Genetics, Vol. 37, pp. 54-63
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Role of copy number variants in sudden cardiac death and related diseases: Genetic analysis and translation into clinical practice
European Journal of Human Genetics, Vol. 26, Núm. 7, pp. 1014-1025
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Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients
PLoS ONE, Vol. 13, Núm. 7
2017
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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
PLoS ONE, Vol. 12, Núm. 8
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Characterization of genetic variation on transcription factor binding sites near human genes associated with Brugada syndrome
I Conference of Pre-doctoral researchers: abstract book (Escola de Doctorat), pp. 149
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Genetic analysis in post-mortem samples with micro-ischemic alterations
Forensic Science International, Vol. 271, pp. 120-125
2016
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Familial dilated cardiomyopathy caused by a novel frameshift in the BAG3 gene
PLoS ONE, Vol. 11, Núm. 7
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Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing
International Journal of Legal Medicine, Vol. 130, Núm. 2, pp. 331-339
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Natural and undetermined sudden death: Value of post-mortem genetic investigation
PLoS ONE, Vol. 11, Núm. 12
2015
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A Genetically Vulnerable Myocardium May Predispose to Myocarditis
Journal of the American College of Cardiology
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Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia
Heart Rhythm, Vol. 12, Núm. 7, pp. 1636-1643
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Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy
Clinical Research in Cardiology, Vol. 104, Núm. 4, pp. 288-303
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Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies
Scientific Reports, Vol. 5