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RBM20 Regulates Circular RNA Production From the Titin Gene

Circulation research, 2016-10, Vol.119 (9), p.996-1003

2016

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A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism

Cardiovascular research, 2016-10, Vol.112 (1), p.452-463

2016

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Randomized Trial of Metoprolol in Patients With Obstructive Hypertrophic Cardiomyopathy

Journal of the American College of Cardiology, 2021-12, Vol.78 (25), p.2505-2517

2021

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Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy

Cardiogenetics, 2022-01, Vol.12 (1), p.1-11

2022

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Effects of Metoprolol on Exercise Hemodynamics in Patients With Obstructive Hypertrophic Cardiomyopathy

Journal of the American College of Cardiology, 2022-04, Vol.79 (16), p.1565-1575

2022

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Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy

Circulation. Heart failure, 2019-03, Vol.12 (3), p.e005700-e005700

2019

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Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives

Journal of the American College of Cardiology, 2023-10, Vol.82 (18), p.1751-1761

2023

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Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

JAMA cardiology, 2019-09, Vol.4 (9), p.918

2019

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The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

European journal of preventive cardiology, 2022-03, Vol.29 (4), p.645-653

2022

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Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis

Scientific reports, 2020-06, Vol.10 (1), p.10039-10039, Article 10039

2020

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Clinical and Genetic Investigations of 109 Index Patients With Dilated Cardiomyopathy and 445 of Their Relatives

Circulation. Heart failure, 2020-10, Vol.13 (10), p.e006701-e006701

2020

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Prevalence and clinical outcomes of dystrophin‐associated dilated cardiomyopathy without severe skeletal myopathy

European journal of heart failure, 2021-08, Vol.23 (8), p.1276-1286

2021

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Frequency of misdiagnosis in hypertrophic cardiomyopathy

European heart journal. Quality of care & clinical outcomes, 2024-04

2024

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Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

Circulation. Arrhythmia and electrophysiology, 2022-05, Vol.15 (5), p.e010075-e010075

2022

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The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins

Experimental cell research, 2013-11, Vol.319 (19), p.3010-3019

2013

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The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope

European journal of heart failure, 2018-10, Vol.20 (10), p.1404-1412

2018

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Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy

JACC. Advances (Online), 2023-10, Vol.2 (8), p.100604, Article 100604

2023

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Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis

Circulation. Cardiovascular genetics, 2014-06, Vol.7 (3), p.230-240

2014

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Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy

Human mutation, 2013-05, Vol.34 (5), p.697-705

2013

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Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Journal of the American College of Cardiology, 2020-07, Vol.76 (2), p.186-197

2020

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Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

Journal of the American College of Cardiology, 2022-05, Vol.79 (20), p.1986-1997

2022

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Abstract 9571: Major Adverse Cardiac Events in Hypertrophic Cardiomyopathy Among Index Patients and Their Affected Relatives

Circulation (New York, N.Y.), 2021-11, Vol.144 (Suppl_1)

2021

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Abstract 12535: The Hemodynamic Response to Exercise in Patients With Obstructive Hypertrophic Cardiomyopathy and the Effect of Metoprolol

Circulation (New York, N.Y.), 2021-11, Vol.144 (Suppl_1)

2021

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Abstract 12010: Index Patients With Hypertrophic Cardiomyopathy and a Normal Genetic Investigation of Recognized HCM Genes Do Rarely Have Affected Relatives

Circulation (New York, N.Y.), 2021-11, Vol.144 (Suppl_1)

2021

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RBM20 Regulates Circular RNA Production From the Titin Gene

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism

Randomized Trial of Metoprolol in Patients With Obstructive Hypertrophic Cardiomyopathy

Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy

Effects of Metoprolol on Exercise Hemodynamics in Patients With Obstructive Hypertrophic Cardiomyopathy

Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy

Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives

Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis

Clinical and Genetic Investigations of 109 Index Patients With Dilated Cardiomyopathy and 445 of Their Relatives

Prevalence and clinical outcomes of dystrophin‐associated dilated cardiomyopathy without severe skeletal myopathy

Frequency of misdiagnosis in hypertrophic cardiomyopathy

Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins

The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope

Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy

Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis

Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy

Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

Abstract 9571: Major Adverse Cardiac Events in Hypertrophic Cardiomyopathy Among Index Patients and Their Affected Relatives

Abstract 12535: The Hemodynamic Response to Exercise in Patients With Obstructive Hypertrophic Cardiomyopathy and the Effect of Metoprolol

Abstract 12010: Index Patients With Hypertrophic Cardiomyopathy and a Normal Genetic Investigation of Recognized HCM Genes Do Rarely Have Affected Relatives

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