List of works - Oscar Campuzano

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

scientific article published in December 2015

A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome

scientific article published in July 2014

A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.

scientific article published on 29 April 2013

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome

scientific article

A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death

scientific article published on 9 December 2014

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

scientific article published on 9 December 2016

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

scientific article published on 3 August 2017

Age, Genetics, and Fibrosis in the Brugada Syndrome

scientific article published on 01 November 2015

Arrhythmogenic right ventricular cardiomyopathy: severe structural alterations are associated with inflammation

scientific article published on 03 September 2012

Autopsy investigation and Bayesian approach to coronary artery disease in victims of motor-vehicle accidents.

scientific article published on 20 May 2011

Brugada Syndrome and PKP2: Evidences and uncertainties

scientific article published on 07 April 2016

Brugada syndrome

scientific article published on 01 January 2014

Brugada syndrome and p.E61X_RANGRF.

scientific article

Brugada syndrome: clinical and genetic findings.

scientific article published on 23 April 2015

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

scientific article published on 29 January 2017

Cardiovascular translational medicine (IV): The genetic basis of malignant arrhythmias and cardiomyopathies.

scientific article published on April 2009

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

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

scientific article published on 25 March 2013

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort

scientific article published on 14 July 2015

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

scientific article published on 6 February 2017

Decreased myeloperoxidase expressing cells in the aged rat brain after excitotoxic damage

scientific article published on 13 May 2011

Delayed neurodegeneration and early astrogliosis after excitotoxicity to the aged brain.

scientific article published on 28 November 2006

Determining the pathogenicity of genetic variants associated with cardiac channelopathies

scientific article

Distinct pattern of microglial response, cyclooxygenase-2, and inducible nitric oxide synthase expression in the aged rat brain after excitotoxic damage

scientific article published in November 2008

Dual fatty acid synthase and HER2 signaling blockade shows marked antitumor activity against breast cancer models resistant to anti-HER2 drugs

scientific article

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

scientific article published on 29 July 2021

Electrocardiogram in Newborns: Beneficial or Not?

scientific article published on 27 June 2019

Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion

scientific article published on 01 January 2019

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

scientific article published on 7 September 2020

Erratum to: Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects

scientific article published on 01 September 2015

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

scientific article

Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers.

scientific article published on 8 November 2016

Flecainide in patient with aggressive catecholaminergic polymorphic ventricular tachycardia due to novel RYR2 mutation

scientific article published in August 2014

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 Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation

scientific article published on 15 June 2020

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 and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects.

scientific article published on 16 November 2014

Genetic basis of atrial fibrillation

scientific article published on 24 September 2016

Genetic basis of dilated cardiomyopathy.

scientific article

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

scientific article published on 30 September 2015

Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

scientific article published on 22 February 2012

Genetics and cardiac channelopathies.

scientific article published on May 2010

Genetics of Brugada syndrome

scientific article published on 01 May 2010

Genetics of arrhythmogenic right ventricular cardiomyopathy.

scientific article published on 06 March 2013

Genetics of channelopathies associated with sudden cardiac death

scientific article

Genetics of familial atrial fibrillation

scientific article published on 06 August 2009

Genetics of inherited arrhythmias in pediatrics.

scientific article published on 12 September 2015

Genetics of sudden cardiac death in children and young athletes.

scientific article published on 24 July 2012

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

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

scientific article published on 26 December 2017

Increase in sudden death from coronary artery disease in young adults

scientific article

Increased levels of proinflammatory cytokines in the aged rat brain attenuate injury-induced cytokine response after excitotoxic damage.

scientific article published on August 2009

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

scientific article published on 20 July 2018

Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation

scientific article published on 20 February 2017

Lafora Disease Is an Inherited Metabolic Cardiomyopathy.

scientific article published in June 2017

Large Genomic Imbalances in Brugada Syndrome.

scientific article

Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

scientific article published on August 2013

Medico-legal perspectives on sudden cardiac death in young athletes

scientific article published on 21 September 2016

Molecular autopsy in a cohort of infants died suddenly at rest

scientific article published on 31 July 2018

Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model

scientific article published on 12 July 2016

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

Novel anti-fatty acid synthase compounds with anti-cancer activity in HER2+ breast cancer.

scientific article published on October 2010

Patients With Brugada Syndrome and Implanted Cardioverter-Defibrillators: Long-Term Follow-Up.

scientific article published in October 2017

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

scientific article published on 15 May 2019

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

scientific article published on 14 October 2014

Pre- and post-treatment with cyclosporine A in a rat model of transient focal cerebral ischaemia with multimodal MRI screening.

scientific article published on 7 August 2012

Present Status of Brugada Syndrome: JACC State-of-the-Art Review

scientific article published on 01 August 2018

Proteomic identification of putative biomarkers for early detection of sudden cardiac death in a family with a LMNA gene mutation causing dilated cardiomyopathy.

scientific article published on 22 July 2016

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

scientific article published on 27 October 2015

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

scientific article published on 05 April 2020

Recent Advances in Short QT Syndrome

Reply to letter to editor: "Genetic basis of dilated cardiomyopathy"

scientific article published on 29 November 2016

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

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia

scientific article published on 15 October 2009

Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy

scientific article published on 14 August 2013

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

scientific article

Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications

scientific article published on 16 May 2014

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

scientific article published on 16 July 2019

Short QT and atrial fibrillation: A KCNQ1 mutation-specific disease. Late follow-up in three unrelated children.

scientific article

Short QT syndrome in pediatrics

scientific article published on 16 March 2017

Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy

scientific article

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

scientific article

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

scientific article published on 13 April 2017

Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

scientific article published on 12 February 2016

Syncope and polymorphic ventricular tachycardia in the setting of a febrile illness

scientific article published on 19 March 2013

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

scientific article published on 19 December 2017

The role of clinical assessment and electrophysiology study in Brugada syndrome patients with syncope

scientific article published on 08 November 2019

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

scientific article

Update about atrial fibrillation genetics.

scientific article published on 4 February 2017

Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic?

scientific article published on 28 September 2020

Update on the Genetic Basis of Sudden Unexpected Death in Epilepsy

scientific article published on 23 April 2019

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data

scientific article

Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family

scientific article published on 10 July 2017

List of works by Oscar Campuzano

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome

A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome

A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death

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.

Age, Genetics, and Fibrosis in the Brugada Syndrome

Arrhythmogenic right ventricular cardiomyopathy: severe structural alterations are associated with inflammation

Autopsy investigation and Bayesian approach to coronary artery disease in victims of motor-vehicle accidents.

Brugada Syndrome and PKP2: Evidences and uncertainties

Brugada syndrome

Brugada syndrome and p.E61X_RANGRF.

Brugada syndrome: clinical and genetic findings.

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

Cardiovascular translational medicine (IV): The genetic basis of malignant arrhythmias and cardiomyopathies.

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

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort

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

Decreased myeloperoxidase expressing cells in the aged rat brain after excitotoxic damage

Delayed neurodegeneration and early astrogliosis after excitotoxicity to the aged brain.

Determining the pathogenicity of genetic variants associated with cardiac channelopathies

Distinct pattern of microglial response, cyclooxygenase-2, and inducible nitric oxide synthase expression in the aged rat brain after excitotoxic damage

Dual fatty acid synthase and HER2 signaling blockade shows marked antitumor activity against breast cancer models resistant to anti-HER2 drugs

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

Electrocardiogram in Newborns: Beneficial or Not?

Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Erratum to: Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects

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

Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers.

Flecainide in patient with aggressive catecholaminergic polymorphic ventricular tachycardia due to novel RYR2 mutation

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 Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation

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 and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects.

Genetic basis of atrial fibrillation

Genetic basis of dilated cardiomyopathy.

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

Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Genetics and cardiac channelopathies.

Genetics of Brugada syndrome

Genetics of arrhythmogenic right ventricular cardiomyopathy.

Genetics of channelopathies associated with sudden cardiac death

Genetics of familial atrial fibrillation

Genetics of inherited arrhythmias in pediatrics.

Genetics of sudden cardiac death in children and young athletes.

Genetics of sudden unexplained death

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

Increase in sudden death from coronary artery disease in young adults

Increased levels of proinflammatory cytokines in the aged rat brain attenuate injury-induced cytokine response after excitotoxic damage.

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

Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation

Lafora Disease Is an Inherited Metabolic Cardiomyopathy.

Large Genomic Imbalances in Brugada Syndrome.

Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

Medico-legal perspectives on sudden cardiac death in young athletes

Molecular autopsy in a cohort of infants died suddenly at rest

Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model

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

Negative autopsy and sudden cardiac death.

Novel anti-fatty acid synthase compounds with anti-cancer activity in HER2+ breast cancer.

Patients With Brugada Syndrome and Implanted Cardioverter-Defibrillators: Long-Term Follow-Up.

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

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

Pre- and post-treatment with cyclosporine A in a rat model of transient focal cerebral ischaemia with multimodal MRI screening.

Present Status of Brugada Syndrome: JACC State-of-the-Art Review

Proteomic identification of putative biomarkers for early detection of sudden cardiac death in a family with a LMNA gene mutation causing dilated cardiomyopathy.

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

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

Recent Advances in Short QT Syndrome

Reply to letter to editor: "Genetic basis of dilated cardiomyopathy"