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

Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.

Annals of laboratory medicine - 1 Jan 2025

Caroselli Silvia, Fabiani Marco, Micolonghi Caterina, Savio Camilla, Tini Giacomo, Musumeci Beatrice, Pagannone Erika, Germani Aldo, Libi Fabio, Visco Vincenzo, Pizzuti Antonio, Autore Camillo, Petrucci Simona, Rubattu Speranza, Piane Maria

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and genetic heterogeneity. Genetic testing can reveal the presence of disease-causing variants in genes encoding sarcomere proteins. However, it yields inconclusive or negative results in 40-60% of HCM cases, owing to, among other causes, technical limitations such as the inability to detect pathogenic intronic...

Topics

Join the communities discussing this publication.

Cardiomyopathy, Hypertrophic
Carrier Proteins
Cohort Studies
Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

High-Throughput Nucleotide Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 39355877
DOI: 10.3343/alm.2024.0201
PMCID: PMC11609707

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.PMID 39355877Read ↗

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.Semantic proximity Read ↗

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.Semantic proximity Read ↗

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic CardiomyopathySemantic proximity Read ↗

Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy.Semantic proximity Read ↗

Protein haploinsufficiency drivers identify<i>MYBPC3</i>mutations that cause hypertrophic cardiomyopathySemantic proximity Read ↗

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.Semantic proximity Read ↗

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes <i>MYBPC3</i> and <i>MYH7</i> in a medical biobankSemantic proximity Read ↗

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.Semantic proximity Read ↗

Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.Semantic proximity Read ↗

Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Genetic and Clinical Characterization of a South-Brazilian Hypertrophic Cardiomyopathy Cohort.Semantic proximity Read ↗

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