Associated Papers
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.
Chang Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.
Caroselli S et al.
Annals of Laboratory Medicine, 2025
Cardiomyopathies: The Role of Non-Coding RNAs.
Carabetta N et al.
Non-coding Rna, 2024
Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review.
Wild KT et al.
The Journal of Pediatrics, 2024
Whole genome sequencing in paediatric channelopathy and cardiomyopathy.
Kwok SY et al.
Frontiers in Cardiovascular Medicine, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
39669597 (PubMed )
Supplement: mmc2.xlsx › Supp_tab_6
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.
Singer ES et al.
Npj Genomic Medicine, 2023
Role of non-coding variants in cardiovascular disease.
Heshmatzad K et al.
Journal of Cellular and Molecular Medicine, 2023
The role of noncoding genetic variants in cardiomyopathy.
Htet M et al.
Frontiers in Cardiovascular Medicine, 2023
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.
Torrado M et al.
Scientific Reports, 2022
Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.
Lopes LR et al.
Circulation. Genomic and Precision Medicine, 2020
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
Janin A et al.
Human Mutation, 2020
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