Publicacións (44) Publicacións de Catarina Allegue Toscano

2022

  1. Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies

    Cells, Vol. 11, Núm. 9

  2. 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

  1. 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

  2. Identification of Novel Regulators of Zalcitabine-Induced Neuropathic Pain

    ACS Chemical Neuroscience, Vol. 12, Núm. 14, pp. 2619-2628

2020

  1. Experimental models to study autism spectrum disorders: Hipscs, rodents and zebrafish

    Genes, Vol. 11, Núm. 11, pp. 1-45

2019

  1. 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

  1. Molecular autopsy in a cohort of infants died suddenly at rest

    Forensic Science International: Genetics, Vol. 37, pp. 54-63

  2. 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

  3. 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

  1. Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

    PLoS ONE, Vol. 12, Núm. 8

  2. 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

  3. Genetic analysis in post-mortem samples with micro-ischemic alterations

    Forensic Science International, Vol. 271, pp. 120-125

2016

  1. Familial dilated cardiomyopathy caused by a novel frameshift in the BAG3 gene

    PLoS ONE, Vol. 11, Núm. 7

  2. 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

  3. Natural and undetermined sudden death: Value of post-mortem genetic investigation

    PLoS ONE, Vol. 11, Núm. 12

2015

  1. A Genetically Vulnerable Myocardium May Predispose to Myocarditis

    Journal of the American College of Cardiology

  2. 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

  3. Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

    Clinical Research in Cardiology, Vol. 104, Núm. 4, pp. 288-303

  4. Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies

    Scientific Reports, Vol. 5

  5. Erratum: Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant (Seizure (2015) 25 (65-67))

    Seizure