Associated Papers
Major arrhythmias in non-dilated left ventricular cardiomyopathy: a novel prediction score.
Peretto G et al.
European Heart Journal, 2026
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
High incidence of malignant arrhythmias and heart failure in patients with RBM20-associated cardiomyopathy: A multicenter cohort study and review of the literature.
Tukker M et al.
International Journal of Cardiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 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
Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.
Inoue S et al.
Jacc. Basic to Translational Science, 2024
Clinical Insights in RNA-Binding Protein Motif 20 Cardiomyopathy: A Systematic Review.
Martini M et al.
Biomolecules, 2024
Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.
Pérez-Serra A et al.
International Journal of Molecular Sciences, 2024
Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients.
Voinescu OR et al.
International Journal of Molecular Sciences, 2024
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.
Gregorich ZR et al.
Circulation. Genomic and Precision Medicine, 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
Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3.
Kornienko J et al.
Nature Communications, 2023
Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.
Zhang Y et al.
Jci Insight, 2023
Application value of whole exome sequencing in screening and identifying novel mutations of hypopharyngeal cancer.
Yao J et al.
Scientific Reports, 2023
Genetic landscape in Russian patients with familial left ventricular noncompaction.
Meshkov AN et al.
Frontiers in Cardiovascular Medicine, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.
Yamamoto T et al.
Journal of Molecular Medicine (berlin, Germany), 2022
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D et al.
Science (new York, N.y.), 2022
Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family.
Malakootian M et al.
Bmc Medical Genomics, 2022
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.
Smith E et al.
Journal of the American Heart Association, 2022
Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy.
Inagaki N et al.
Human Genome Variation, 2022
RBM20-Related Cardiomyopathy: Current Understanding and Future Options.
Koelemen J et al.
Journal of Clinical Medicine, 2021
The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.
Gaertner A et al.
Genes, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach.
Jordà P et al.
Journal of Personalized Medicine, 2021
Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes.
Sielemann K et al.
Genes, 2020
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A et al.
Human Mutation, 2020
Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing.
Carnevale A et al.
Molecular Genetics & Genomic Medicine, 2020
New Insights in RBM20 Cardiomyopathy.
Lennermann D et al.
Current Heart Failure Reports, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.
van den Hoogenhof MMG et al.
Circulation, 2018
Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20.
Rexiati M et al.
Genes, 2018
Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy.
Zahr HC et al.
Frontiers in Genetics, 2018
Alternative Splicing Regulator RBM20 and Cardiomyopathy.
Watanabe T et al.
Frontiers in Molecular Biosciences, 2018
Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy.
Sedaghat-Hamedani F et al.
European Heart Journal, 2017
Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Streckfuss-Bömeke K et al.
Journal of Molecular and Cellular Cardiology, 2017
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.
Long PA et al.
Journal of Cardiovascular Development and Disease, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B et al.
Plos One, 2017
Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells.
Wyles SP et al.
Human Molecular Genetics, 2016
Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy.
Beraldi R et al.
Human Molecular Genetics, 2014
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.
Wells QS et al.
Circulation. Cardiovascular Genetics, 2013
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Guo W et al.
Nature Medicine, 2012
Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.
Refaat MM et al.
Heart Rhythm, 2012
Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.
Rampersaud E et al.
Progress in Pediatric Cardiology, 2011
[LMNA gene and dilated cardiomyopathy].
Sun LP et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2009
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.
Brauch KM et al.
Journal of the American College of Cardiology, 2009