Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

doi:10.1186/s40246-015-0038-y

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

Community

Back to search

Article

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Human genomics - 19 Jul 2015

Li Mindy H, Abrudan Jenica L, Dulik Matthew C, Sasson Ariella, Brunton Joshua, Jayaraman Vijayakumar, Dugan Noreen, Haley Danielle, Rajagopalan Ramakrishnan, Biswas Sawona, Sarmady Mahdi, DeChene Elizabeth T, Deardorff Matthew A, Wilkens Alisha, Noon Sarah E, Scarano Maria I, Santani Avni B, White Peter S, Pennington Jeffrey, Conlin Laura K, Spinner Nancy B, Krantz Ian D, Vetter Victoria L

Abstract excerpt

BACKGROUND: Conditions associated with sudden cardiac arrest/death (SCA/D) in youth often have a genetic etiology. While SCA/D is uncommon, a pro-active family screening approach may identify these inherited structural and electrical abnormalities prior to symptomatic events and allow appropriate surveillance and treatment. This study investigated the diagnostic utility of exome sequencing (ES) by evaluating the...

Read the complete abstract on PubMed

Topics

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

Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Death, Sudden, Cardiac

Share to Exome

Share to Genome, Human

Share to Genomics

Share to High-Throughput Nucleotide Sequencing

Share to Sequence Analysis, DNA

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 26187847
DOI: 10.1186/s40246-015-0038-y
PMCID: PMC4506570

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.PMID 26187847Read ↗

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the youngSemantic proximity Read ↗

Population-Based Analysis of Rare Genetic Variants in Sudden Cardiac Arrest.Semantic proximity Read ↗

Rare Genetic Variants Associated with Sudden Cardiac Arrest in the Young: A Prospective, Population-Based StudySemantic proximity Read ↗

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the youngSemantic proximity Read ↗

Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac DeathSemantic proximity Read ↗

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.Semantic proximity Read ↗

Genetic Causes of Sudden Cardiac Arrest in the CommunitySemantic proximity Read ↗

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

Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death.Semantic proximity Read ↗

Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders.Semantic proximity Read ↗

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.Semantic proximity Read ↗

Sudden death and cardiac arrest without phenotype: the utility of genetic testing.Semantic proximity Read ↗

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