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List of works by Catarina Allegue Toscano

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

scientific article published in December 2015

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

scientific article published on 3 August 2017

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

scientific article published on 20 April 2021

Brugada syndrome and p.E61X_RANGRF.

scientific article

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

scientific article published in July 2015

Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

scientific article

Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

scientific article published on 6 February 2017

Determining the pathogenicity of genetic variants associated with cardiac channelopathies

scientific article

Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene

scientific article

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

scientific article published on 9 January 2015

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

scientific article published on 31 July 2015

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

scientific article published on 03 January 2017

Genetic analysis, in silico prediction, and family segregation in long QT syndrome

scientific article

Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

scientific article published on 15 August 2014

Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

scientific article published on 30 September 2015

Genetics of arrhythmogenic right ventricular cardiomyopathy.

scientific article published on 06 March 2013

Genetics of sudden unexplained death

scientific article published on 7 September 2013

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.

scientific article

Molecular autopsy in a cohort of infants died suddenly at rest

scientific article published on 31 July 2018

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

scientific article

Negative autopsy and sudden cardiac death.

scientific article published on 16 February 2014

Post-mortem genetic analysis in juvenile cases of sudden cardiac death.

scientific article published on 14 October 2014

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

scientific article published on 27 October 2015

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

scientific article published on 06 March 2018

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients.

scientific article published on 18 July 2018

Sarcomeric gene mutations in sudden infant death syndrome (SIDS).

scientific article

The association of germline variants with chronic lymphocytic leukemia outcome suggests the implication of novel genes and pathways in clinical evolution.

scientific article published on 29 May 2019

The role of clinical, genetic and segregation evaluation in sudden infant death.

scientific article

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