Associated Papers
Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying RBM20 mutations.
Sun S et al.
Stem Cell Research, 2026
Prime editing corrects the dilated cardiomyopathy causing RBM20-P633L-mutation in human cardiomyocytes.
Roman A et al.
Molecular Therapy. Nucleic Acids, 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
RBM20 p.Arg636Cys: A Pathogenic Variant Identified in a Family with Several Cases of Unexpected Sudden Deaths.
Lorca R et al.
Journal of Clinical Medicine, 2025
Ambiguous Clinical Presentations and Imaging Findings in Genetic Dilated Cardiomyopathy.
Ahmed MU et al.
Jacc. Case Reports, 2024
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 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
Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.
Gregorich ZR et al.
Circulation. Genomic and Precision Medicine, 2024
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
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
Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.
Zhang Y et al.
Jci Insight, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
Circulating c-Met-Expressing Memory T Cells Define Cardiac Autoimmunity.
Fanti S et al.
Circulation, 2022
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
Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family.
Malakootian M et al.
Bmc Medical Genomics, 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
Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach.
Jordà P et al.
Journal of Personalized Medicine, 2021
New Insights in RBM20 Cardiomyopathy.
Lennermann D et al.
Current Heart Failure Reports, 2020
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY et al.
The Lancet Regional Health. Western Pacific, 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
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Response to Brodehl et al.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
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
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.
Wells QS et al.
Circulation. Cardiovascular Genetics, 2013
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
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.
Li D et al.
Clinical and Translational Science, 2010
[LMNA gene and dilated cardiomyopathy].
Sun LP et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2009
Co-existence of RBM20 and KCNQ1 gene mutations in a patient with long QT syndrome and dilated cardiomyopathy. "Which came first: Chicken or the egg?"
Panicker JS et al.
Indian Pacing and Electrophysiology Journal, 0