Alexandre Janin

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling

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

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years

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

Whole <i>MYBPC3</i> NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy

Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles

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

TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome

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

First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology

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

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

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

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