Hervé Le Marec
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View article: SURFBAT: a surrogate family based association test building on large imputation reference panels
SURFBAT: a surrogate family based association test building on large imputation reference panels Open
Genotype–phenotype association tests are typically adjusted for population stratification using principal components that are estimated genome-wide. This lacks resolution when analyzing populations with fine structure and/or individuals wi…
View article: Human genetic structure in Northwest France provides new insights into West European historical demography
Human genetic structure in Northwest France provides new insights into West European historical demography Open
View article: TAD boundary deletion causes PITX2-related cardiac electrical and structural defects
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects Open
View article: How local reference panels improve imputation in French populations
How local reference panels improve imputation in French populations Open
View article: Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-A rat model
Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-A rat model Open
Aims Degenerative mitral valve dystrophy (MVD) leading to mitral valve prolapse is the most frequent form of MV disease, and there is currently no pharmacological treatment available. The limited understanding of the pathophysiological mec…
View article: Moment estimators of relatedness from low-depth whole-genome sequencing data
Moment estimators of relatedness from low-depth whole-genome sequencing data Open
Background Estimating relatedness is an important step for many genetic study designs. A variety of methods for estimating coefficients of pairwise relatedness from genotype data have been proposed. Both the kinship coefficient $$\varphi$$…
View article: Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility Open
View article: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility Open
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we …
View article: Generation of human induced pluripotent stem cell lines from three patients affected by Catecholaminergic Polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene
Generation of human induced pluripotent stem cell lines from three patients affected by Catecholaminergic Polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene Open
View article: Gap-134, a Connexin43 activator, prevents age-related development of ventricular fibrosis in Scn5a− mice
Gap-134, a Connexin43 activator, prevents age-related development of ventricular fibrosis in Scn5a− mice Open
View article: Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly Open
Holoprosencephaly is a pathology of forebrain development characterized by high phenotypic heterogeneity. The disease presents with various clinical manifestations at the cerebral or facial levels. Several genes have been implicated in hol…
View article: P5441Aortic valve phenotype associated with filamin-A mutations: a comprehensive echocardiographic and outcomes analyses
P5441Aortic valve phenotype associated with filamin-A mutations: a comprehensive echocardiographic and outcomes analyses Open
Pathophysiology and mechanisms in valve disease 1123variable logistic regression model including EF, age and MVP, lower EF (Adjusted OR 0.86 (95% CI, 0.77-0.97,p=0.01)) and lower age (Adjusted OR 0.94 (95% CI, 0.89-0.98,p=0.006) remained i…
View article: SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups
SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups Open
In this large paediatric cohort of SCN5A mutation-positive subjects, cardiac conduction disorders were the most prevalent phenotype; CEs occurred in about one-third of genotype-positive children, and several independent risk factors were i…
View article: Genetics of syndromic and non-syndromic mitral valve prolapse
Genetics of syndromic and non-syndromic mitral valve prolapse Open
Mitral valve prolapse (MVP) is a common condition that affects 2%–3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degenerati…
View article: Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm Open
View article: New insights into mitral valve dystrophy: a Filamin-A genotype–phenotype and outcome study
New insights into mitral valve dystrophy: a Filamin-A genotype–phenotype and outcome study Open
FLNA-MVD is a developmental and degenerative disease with complex phenotypic expression which can influence patient management. FLNA-MVD has unique features with both MVP and paradoxical restricted motion in diastole, sub-valvular mitral a…
View article: Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation
Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation Open
View article: Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity
Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity Open
View article: The QUIDAM study: Hydroquinidine therapy for the management of Brugada syndrome patients at high arrhythmic risk
The QUIDAM study: Hydroquinidine therapy for the management of Brugada syndrome patients at high arrhythmic risk Open
View article: Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death
Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death Open
View article: Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN Project
Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN Project Open
BACKGROUND: Understanding the pathophysiologic mechanism of intracranial aneurysm (IA) formation is a prerequisite to assess the potential risk of rupture. Nowadays, there are neither reliable biomarkers nor diagnostic tools to predict the…
View article: Brugada syndrome: Diagnosis, risk stratification and management
Brugada syndrome: Diagnosis, risk stratification and management Open
View article: Polymorphisms in the GNAS Gene as Predictors of Ventricular Tachyarrhythmias and Sudden Cardiac Death: Results From the DISCOVERY Trial and Oregon Sudden Unexpected Death Study
Polymorphisms in the GNAS Gene as Predictors of Ventricular Tachyarrhythmias and Sudden Cardiac Death: Results From the DISCOVERY Trial and Oregon Sudden Unexpected Death Study Open
Background Population‐based studies suggest that genetic factors contribute to sudden cardiac death ( SCD ). Methods and Results In the first part of the present study (Diagnostic Data Influence on Disease Management and Relation of Geneti…
View article: Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy Open
View article: Dysfunction of the Voltage‐Gated K <sup>+</sup> Channel β2 Subunit in a Familial Case of Brugada Syndrome
Dysfunction of the Voltage‐Gated K <sup>+</sup> Channel β2 Subunit in a Familial Case of Brugada Syndrome Open
Background The Brugada syndrome is an inherited cardiac arrhythmia associated with high risk of sudden death. Although 20% of patients with Brugada syndrome carry mutations in SCN 5A , the molecular mechanisms underlying this condition are…
View article: The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance
The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance Open
For the last 10 years, applying new sequencing technologies to thousands of whole exomes has revealed the high variability of the human genome. Extreme caution should thus be taken to avoid misinterpretation when associating rare genetic v…
View article: Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia Open
View article: Young Investigator Award session – Clinical Science442Left bundle branch block and coronary artery disease in coronary ct angiography443Focal myocardial fibrosis and abnormal left ventricular strain in patients with sarcoidosis without clinical evidence of cardiac disease444Arhgap24, a first gene for fibro elastic deficiency mitral valve prolapse? A phenotypic study445Advantage of using ASE/EACVI criteria for detection of subclinical cardiotoxicity in breast cancer patients undergoing anthracycline and trastuzumab therapy
Young Investigator Award session – Clinical Science442Left bundle branch block and coronary artery disease in coronary ct angiography443Focal myocardial fibrosis and abnormal left ventricular strain in patients with sarcoidosis without clinical evidence of cardiac disease444Arhgap24, a first gene for fibro elastic deficiency mitral valve prolapse? A phenotypic study445Advantage of using ASE/EACVI criteria for detection of subclinical cardiotoxicity in breast cancer patients undergoing anthracycline and trastuzumab therapy Open
# 442 Left bundle branch block and coronary artery disease in coronary ct angiography {#article-title-2}
Purpose: Left bundle branch block (LBBB) is considered an unfavourable prognostic marker in heart disease. Testing for coronary art…
View article: Mitral valve disease—morphology and mechanisms
Mitral valve disease—morphology and mechanisms Open
View article: Genetic association analyses highlight biological pathways underlying mitral valve prolapse
Genetic association analyses highlight biological pathways underlying mitral valve prolapse Open