Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Molecular diagnosis & therapy - 1 May 2021

Janin Alexandre, Januel Louis, Cazeneuve Cécile, Delinière Antoine, Chevalier Philippe, Millat Gilles

Abstract excerpt

BACKGROUND AND OBJECTIVE: Molecular diagnosis in inherited cardiac diseases is challenging because of the significant genetic and clinical heterogeneity. We present a detailed molecular investigation of a cohort of 4185 patients with referrals for inherited cardiac diseases. METHODS: Patients suffering from cardiomyopathies (3235 probands), arrhythmia syndromes (760 probands), or unexplained sudden cardiac arrest...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arrhythmias, Cardiac
Share to Cardiomyopathies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Death, Sudden, Cardiac

Share to DNA Copy Number Variations

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Pathology, Molecular

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 33954932
DOI: 10.1007/s40291-021-00530-w

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.PMID 33954932Read ↗

The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.Semantic proximity Read ↗

Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions.Semantic proximity Read ↗

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon GenesSemantic proximity Read ↗

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.Semantic proximity Read ↗

Next-generation sequencing to identify genetic causes of cardiomyopathies.Semantic proximity Read ↗

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significanceSemantic proximity Read ↗

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disordersSemantic proximity Read ↗

Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.Semantic proximity Read ↗

Next-generation sequencing for the diagnosis of cardiac arrhythmia syndromes.Semantic proximity Read ↗

Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.Semantic proximity Read ↗

Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.Semantic proximity Read ↗

Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA SequencersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.