DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies

Clinical profile and long-term follow-up of a cohort of patients with desmoplakin cardiomyopathy

(2022) Riccardo Bariani et al.   HEART RHYTHM

HF-566-04 PATHOGENIC VARIANTS IN EMD ARE ASSOCIATED WITH AN ISOLATED CARDIAC EMERINOPATHY

(2022) Ahmed Alsalem et al.   HEART RHYTHM

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies

(2022) Daniel Reichart et al.   SCIENCE

Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy

(2021) Thuy Vy Nguyen et al.   CIRCULATION JOURNAL

Clinical characteristics and risk stratification of desmoplakin cardiomyopathy

(2021) Weijia Wang et al.   EUROPACE

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

(2021) Maria A. Restrepo‐Cordoba et al.   EUROPEAN JOURNAL OF HEART FAILURE

Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy

(2021) Aoife Gowran et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Titin (TTN): from molecule to modifications, mechanics, and medical significance

(2021) Christine M Loescher et al.   CARDIOVASCULAR RESEARCH

Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants

(2021) Marta Gigli et al.   CIRCULATION

Genetic correction strategies for Duchenne muscular dystrophy and their impact on the heart

(2021) Jamie R. Johnston et al.   PROGRESS IN PEDIATRIC CARDIOLOGY

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct from Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

(2020) Eric D. Smith et al.   CIRCULATION

Variant Interpretation for Dilated Cardiomyopathy

(2020) Ana Morales et al.   Circulation-Genomic and Precision Medicine

Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

(2020) Mohammed Majid Akhtar et al.   Circulation-Heart Failure

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Danon disease: Gender differences in presentation and outcomes

(2019) Michela Brambatti et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy

(2019) Victoria N. Parikh et al.   Circulation-Heart Failure

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

(2019) Thomas Morris Hey et al.   Circulation-Heart Failure

Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort

(2019) Kiran Polavarapu et al.   JOURNAL OF NEUROLOGY

Gene expression across mammalian organ development

(2019) Margarida Cardoso-Moreira et al.   NATURE

VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants

(2019) Eddie Ip et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

(2018) Andre E. Minoche et al.   GENETICS IN MEDICINE

A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia

(2018) Jin Tang et al.   MEDICINE

Telomere shortening is a hallmark of genetic cardiomyopathies

(2018) Alex C. Y. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sudden unexpected death in the young — Value of massive parallel sequencing in postmortem genetic analyses

(2018) Stefanie Scheiper et al.   FORENSIC SCIENCE INTERNATIONAL

Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

(2018) Fernando Domínguez et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Phenotype and Clinical Outcomes of Titin Cardiomyopathy

(2017) Upasana Tayal et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

(2016) Martín F. Ortiz-Genga et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers

(2016) Saurabh Kumar et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Dystrophin-Deficient Cardiomyopathy

(2016) Forum Kamdar et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Telomere shortening and metabolic compromise underlie dystrophic cardiomyopathy

(2016) Alex Chia Yu Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IBS: an illustrator for the presentation and visualization of biological sequences: Fig. 1.

(2015) Wenzhong Liu et al.   BIOINFORMATICS

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

(2015) Catherine L. Bladen et al.   HUMAN MUTATION

Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy

(2015) Reid C. Chamberlain et al.   PEDIATRIC NEUROLOGY

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

(2015) Angharad M. Roberts et al.   Science Translational Medicine

Atlas of the clinical genetics of human dilated cardiomyopathy

(2014) Jan Haas et al.   EUROPEAN HEART JOURNAL

Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing

(2013) Wan-Jin Chen et al.   CLINICA CHIMICA ACTA

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience

(2013) Karin Y. van Spaendonck-Zwarts et al.   EUROPEAN JOURNAL OF HEART FAILURE

Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy

(2013) Foteini Mourkioti et al.   NATURE CELL BIOLOGY

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

(2012) Amy E. Roberts et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers

(2012) Ingrid A.W. van Rijsingen et al.   EUROPEAN JOURNAL OF HEART FAILURE

Isolated cardiomyopathy caused by aDMDnonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle

(2011) J Juan-Mateu et al.   CLINICAL GENETICS

Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects

(2011) Marta Diegoli et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Desmin-related myopathy

(2010) KY van Spaendonck-Zwarts et al.   CLINICAL GENETICS

Familial Dilated Cardiomyopathy Secondary to Dystrophin Splice Site Mutation

(2010) Dita Obler et al.   JOURNAL OF CARDIAC FAILURE

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION

A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin

(2009) Sébastien Legardinier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Microarray-based mutation detection in thedystrophingene

(2008) Madhuri R. Hegde et al.   HUMAN MUTATION

Follow-up of three patients with a large in-frame deletion of exons 45–55 in the Duchenne muscular dystrophy (DMD) gene

(2008) Akinori Nakamura et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families – Detection of carrier status in symptomatic and asymptomatic female relatives

(2008) Henriett Pikó et al.   NEUROMUSCULAR DISORDERS