Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy

Alexandre Janin, Kim‐Huong Thi Nguyen, Gilbert Habib, +7

Clinical Genetics

Cardiac MuscleHeart FailureGeneticsGenetic EpidemiologyMolecular Biology +15

Atrial fibrillation is associated with hypermethylation in human left atrium, and treatment with decitabine reduces atrial tachyarrhythmias in spontaneously hypertensive rats

Rosa Doñate Puertas, Emmanuelle Meugnier, Caroline Romestaing, +14

Translational research

HypertensionCardiomyopathyCardiovascular DiseaseMedicinePhysiology +10

Homozygous <i><scp>PKP2</scp></i> deletion associated with neonatal left ventricle noncompaction

Francis Ramond, Alexandre Janin, Sylvie Di Filippo, +6

Clinical Genetics

Heart FailureEngineeringGeneticsGenetic EpidemiologyPathology +14

Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy

Adrien Moreau, Jean‐Baptiste Reisqs, Hélène Delanoë‐Ayari, +18

Clinical and Translational Medicine

Sequencing‐based typing reveals six novel MHC class I chain‐related gene B (MICB) alleles

C.J.T. Visser, M.G.J. Tilanus, Véronique Schaeffer, +3

Tissue Antigens

HistocompatibilityGeneticsImmunologyHuman PolymorphismMolecular Biology +18

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death

Valérie Chanavat, Alexandre Janin, Gilles Millat

Clinica Chimica Acta

Genetic DiseasesMolecular Diagnostic TechniquesHeart FailureCardiomyopathyMedicine +8

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene

Claire Goursaud, Delphine Mallet, Alexandre Janin, +8

Frontiers in Endocrinology

Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization

Yohann Jourdy, Alexandre Janin, Mathilde Frétigny, +4

The American Journal of Human Genetics

GeneticsPathogenesisHematologyPathologyHeme Signaling +2

Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia

Oriane Marmontel, Pierre Antoine Rollat‐Farnier, Anne‐Sophie Wozny, +19

Clinical Genetics

Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy

Oriane Marmontel, Sybil Charrière, Thomas Simonet, +15

Clinical Genetics