Lista de obras - Monica Coll - Dominio Público Uruguay

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

artículo científico publicado en 2015

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

artículo científico publicado en 2021

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome

scientific article published on 29 March 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death

artículo científico publicado en 2017

Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome

scientific article published on 20 July 2018

Large Genomic Imbalances in Brugada Syndrome.

artículo científico publicado en 2016

Medico-legal perspectives on sudden cardiac death in young athletes

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes

scientific article published on 05 April 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants

scientific article published on 16 July 2019

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

artículo científico publicado en 2017

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

scientific article published on 20 March 2020

Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications

artículo científico publicado en 2017

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Update on the Genetic Basis of Sudden Unexpected Death in Epilepsy

artículo científico publicado en 2019

Lista de obras de Monica Coll

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.

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

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort

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

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

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

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

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

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome

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

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

Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death

Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome

Large Genomic Imbalances in Brugada Syndrome.

Medico-legal perspectives on sudden cardiac death in young athletes

Molecular autopsy in a cohort of infants died suddenly at rest

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

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.

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

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

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes

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

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

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

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

Update on the Genetic Basis of Sudden Unexpected Death in Epilepsy