Lista de obras -

A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn’s Disease and Is Independent of CARD15 and IBD5

artículo científico publicado en 2007

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

artículo científico publicado en 2016

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death

scientific article published on 28 August 2018

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia

artículo científico publicado en 2016

A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.

artículo científico publicado en 2011

Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.

artículo científico publicado en 2010

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

scientific article published on 08 September 2020

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

artículo científico publicado en 2017

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

scientific article published on 25 September 2020

Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy

artículo científico publicado en 2021

Clinical Utility of a Phenotype Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing

artículo científico publicado en 2020

Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing.

artículo científico

Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events

scientific article published on 01 November 2018

Correction: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

scientific article published on 01 May 2019

Detection of mutations in hemophilia a patients by chemical cleavage of mismatch method.

artículo científico publicado en 1999

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

artículo científico publicado en 2013

Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain.

artículo científico publicado en 1999

Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young.

artículo científico publicado en 2014

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

artículo científico publicado en 2014

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest

artículo científico publicado en 2015

Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.

artículo científico publicado en 2017

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

artículo científico publicado en 2015

Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation

artículo científico publicado en 1998

Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A

artículo científico publicado en 2005

Genetic Basis of Sudden Unexpected Death in Epilepsy.

artículo científico publicado en 2017

Genetic Testing for Cardiomyopathies in Clinical Practice.

artículo científico publicado en 2018

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.

artículo científico publicado en 2014

Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases

artículo científico publicado en 2011

Genetic architecture of left ventricular noncompaction in adults

scientific article published on 15 October 2020

Genetic basis of familial valvular heart disease

artículo científico publicado en 2012

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

artículo científico publicado en 2018

Global microRNA profiling of the mouse ventricles during development of severe hypertrophic cardiomyopathy and heart failure

artículo científico publicado en 2012

Haemophilia A mutations in the UK: results of screening one-third of the population.

artículo científico publicado en 2008

Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease

artículo científico publicado en 2018

Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.

artículo científico publicado en 2007

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

artículo científico publicado en 2008

Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection.

artículo científico publicado en 2006

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

scientific article published on 01 January 2019

LAMP2 shines a light on cardiomyopathy in an athlete

artículo científico publicado en 2017

Molecular diagnostics of cardiomyopathies: the future is here.

artículo científico publicado en 2011

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing

artículo científico publicado en 2017

Mutation detection in factor VIII cDNA from lymphocytes of hemophilia A patients by solid phase fluorescent chemical cleavage of mismatch

artículo científico publicado en 2002

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis

artículo científico publicado en 2010

NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy

artículo científico publicado en 2015

No association of G-protein-coupled receptor kinase 5 or β-adrenergic receptor polymorphisms with Takotsubo cardiomyopathy in a large Australian cohort.

artículo científico publicado en 2013

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

artículo científico publicado en 2017

Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.

artículo científico publicado en 2008

Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy.

artículo científico publicado en 2017

Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus

artículo científico publicado en 2010

Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

scientific article published on 28 September 2010

Postmortem review and genetic analysis in sudden infant death syndrome: an 11-year review.

artículo científico

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multi-Center Molecular Autopsy Cohort of Sudden Unexplained Death Victims

artículo científico publicado en 2020

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

artículo científico publicado en 2012

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

artículo científico publicado en 2002

Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome

artículo científico publicado en 2018

Response to Brodehl et al

scientific article published on 28 September 2018

Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations

artículo científico publicado en 2019

Revisiting the Diagnostic Yield of Hypertrophic Cardiomyopathy Genetic Testing

scientific article published on 21 April 2020

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

artículo científico publicado en 2007

Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres

artículo científico publicado en 1999

Sudden Cardiac Death in Children and Young Adults

artículo científico publicado en 2016

Sudden Cardiac Death in the Young

artículo científico publicado en 2019

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention

artículo científico publicado en 2016

The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy

artículo científico publicado en 2009

Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in <i>MYBPC3</i>

artículo científico publicado en 2021

Triadin Knockout Syndrome is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and is Extremely Rare in the General Population

artículo científico publicado en 2020

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

scientific article published on 01 July 2018

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

artículo científico publicado en 2022

Lista de obras de

A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn’s Disease and Is Independent of CARD15 and IBD5

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia

A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.

Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy

Clinical Utility of a Phenotype Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing

Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing.

Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events

Correction: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

Detection of mutations in hemophilia a patients by chemical cleavage of mismatch method.

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain.

Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young.

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest

Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation

Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A

Genetic Basis of Sudden Unexpected Death in Epilepsy.

Genetic Testing for Cardiomyopathies in Clinical Practice.

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.

Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases

Genetic architecture of left ventricular noncompaction in adults

Genetic basis of familial valvular heart disease

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Global microRNA profiling of the mouse ventricles during development of severe hypertrophic cardiomyopathy and heart failure

Haemophilia A mutations in the UK: results of screening one-third of the population.

Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease

Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection.

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

LAMP2 shines a light on cardiomyopathy in an athlete

Molecular diagnostics of cardiomyopathies: the future is here.

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing

Mutation detection in factor VIII cDNA from lymphocytes of hemophilia A patients by solid phase fluorescent chemical cleavage of mismatch

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis

NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy

No association of G-protein-coupled receptor kinase 5 or β-adrenergic receptor polymorphisms with Takotsubo cardiomyopathy in a large Australian cohort.

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.

Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy.

Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus

Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

Postmortem review and genetic analysis in sudden infant death syndrome: an 11-year review.

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multi-Center Molecular Autopsy Cohort of Sudden Unexplained Death Victims

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome

Response to Brodehl et al

Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations

Revisiting the Diagnostic Yield of Hypertrophic Cardiomyopathy Genetic Testing

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres

Sudden Cardiac Death in Children and Young Adults

Sudden Cardiac Death in the Young

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention

The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy

Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in <i>MYBPC3</i>

Triadin Knockout Syndrome is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and is Extremely Rare in the General Population

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy