Lista de obras -

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2021

Brugada syndrome and p.E61X_RANGRF.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Determining the pathogenicity of genetic variants associated with cardiac channelopathies

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Genetics of arrhythmogenic right ventricular cardiomyopathy.

artículo científico

Genetics of sudden unexplained death

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

Negative autopsy and sudden cardiac death.

artículo científico publicado en 2014

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

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

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

artículo científico publicado en 2012

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

Lista de obras de

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

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

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

Brugada syndrome and p.E61X_RANGRF.

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

Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

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

Determining the pathogenicity of genetic variants associated with cardiac channelopathies

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

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

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

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

Genetics of arrhythmogenic right ventricular cardiomyopathy.

Genetics of sudden unexplained death

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

Molecular autopsy in a cohort of infants died suddenly at rest

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

Negative autopsy and sudden cardiac death.

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

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

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.

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

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

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