Associated Papers
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.
Park KS et al.
Annals of Laboratory Medicine, 2026
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.
Kubanek M et al.
Esc Heart Failure, 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
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.
Lian H et al.
Journal of Translational Medicine, 2023
Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants.
Weis A et al.
Journal of Personalized Medicine, 2023
Genetic landscape in Russian patients with familial left ventricular noncompaction.
Meshkov AN et al.
Frontiers in Cardiovascular Medicine, 2023
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
van der Meulen MH et al.
Circulation. Genomic and Precision Medicine, 2022
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D et al.
Science (new York, N.y.), 2022
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
Liu J et al.
Human Mutation, 2021
Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy.
Nguyen TV et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2021
Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.
Li M et al.
Journal of Translational Medicine, 2021
P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.
van der Klooster ZJ et al.
Journal of Cellular and Molecular Medicine, 2021
Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.
Quiat D et al.
Journal of the American Heart Association, 2020
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.
Morales A et al.
Circulation. Genomic and Precision Medicine, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Dyssynchronopathy Can be a Manifestation of Heritable Cardiomyopathy.
Te Rijdt WP et al.
Circulation. Genomic and Precision Medicine, 2019
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Herkert JC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Cardiomyopathies and Related Changes in Contractility of Human Heart Muscle.
Vikhorev PG et al.
International Journal of Molecular Sciences, 2018
Genotype-specific pathogenic effects in human dilated cardiomyopathy.
Bollen IAE et al.
The Journal of Physiology, 2017
A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.
Chanavat V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.
Otten E et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2010
Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy.
Te Rijdt WP et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0