List of works - Solena Le Scouarnec

0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients

0224 : Mental stress unmasked new phenotype of sudden cardiac death related to adrenalin dependent prolongation of the QT interval

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes

scientific article

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease

scientific article

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

scientific article

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

scientific article published on 10 June 2016

Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease

scientific article

Fine-scale human genetic structure in Western France

scientific article published on 3 September 2014

Genetic association analyses highlight IL6, ALPL, and NAV1 as three new susceptibility genes underlying calcific aortic valve stenosis

article

Genetics of syndromic and non-syndromic mitral valve prolapse

scientific article published on 19 January 2018

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

scientific article published in August 2014

Identification of large families in early repolarization syndrome

scientific article published in January 2013

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

scientific article published on 11 April 2016

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

scientific article

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation

scientific article published on 21 April 2014

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

scientific article published on 29 September 2009

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

scientific article

Sudden cardiac arrest associated with early repolarization

scientific article published in May 2008

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

article

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

article

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

scientific article

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

scientific article

aCGH.Spline--an R package for aCGH dye bias normalization

scientific article published on 25 February 2011

List of works by Solena Le Scouarnec

0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients

0224 : Mental stress unmasked new phenotype of sudden cardiac death related to adrenalin dependent prolongation of the QT interval

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease

Fine-scale human genetic structure in Western France

Genetic association analyses highlight IL6, ALPL, and NAV1 as three new susceptibility genes underlying calcific aortic valve stenosis

Genetics of syndromic and non-syndromic mitral valve prolapse

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

Identification of large families in early repolarization syndrome

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

Sudden cardiac arrest associated with early repolarization

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

aCGH.Spline--an R package for aCGH dye bias normalization