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

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Journal of the American Heart Association - 16 Sept 2025

Suzuki Takanori, Lesurf Robert, Akilen Rajadurai, Xu Xiaoqiao, Batke Eva Maria, Rao Vinay J, Jobling Rebekah, Zahavich Laura, Henden Natasha, Ingles Jodie, Torres Edgardo Alania, Hirono Keiichi, Roux-Buisson Nathalie, Dhandapany Perundurai S, Sandmann Christoph, Mital Seema

Abstract excerpt

BACKGROUND: Variant interpretation can change over time as new knowledge emerges. Our aim was to determine the frequency and causes of variant reinterpretation on systematic reevaluation in pediatric patients with cardiomyopathy. METHODS: Overall, 227 unrelated pediatric patients with cardiomyopathy enrolled in the Heart Centre Biobank harbored a pathogenic/likely pathogenic (P/LP) variant or a variant of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cardiomyopathies

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

Share to Child, Preschool

Share to Gene Frequency

Share to Genetic Testing

Share to Genetic Variation

Share to Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 40932142
DOI: 10.1161/JAHA.125.041298
PMCID: PMC12554398

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 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

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.PMID 40932142Read ↗

The yield on re-interpretation of genetic variants in pediatric cardiomyopathySemantic proximity Read ↗

Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.Semantic proximity Read ↗

Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department.Semantic proximity Read ↗

Clinical and genetic variant re-analysis among pediatric probands undergoing genetic testing for arrhythmia syndromes.Semantic proximity Read ↗

Reclassification of Genetic Variants in Patients with Hypertrophic Cardiomyopathy from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)Semantic proximity Read ↗

Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.Semantic proximity Read ↗

Impact of variant reclassification on genetic testing yield and clinical outlook in patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.Semantic proximity Read ↗

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.Semantic proximity Read ↗

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.Semantic proximity Read ↗

Genetic variant burden and adverse outcomes in pediatric cardiomyopathy.Semantic proximity Read ↗

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesSemantic proximity Read ↗

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