Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all

Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption

(2010) Pallavi Gupta et al.   BASIC RESEARCH IN CARDIOLOGY

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3gene

(2009) Philipp Ehlermann et al.   BMC Medical Genetics

Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Disease-Causing or Innocent Bystanders?

(2009) Alex Hørby Christensen et al.   CARDIOLOGY

Atrogin-1 and MuRF1 regulate cardiac MyBP-C levels via different mechanisms

(2009) Giulia Mearini et al.   CARDIOVASCULAR RESEARCH

A potential link between peroxisome proliferator-activated receptor signalling and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

(2009) F. Djouadi et al.   CARDIOVASCULAR RESEARCH

The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy

(2009) L. Carrier et al.   CARDIOVASCULAR RESEARCH

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

(2009) Sabine J. van Dijk et al.   CIRCULATION

Identification and Functional Characterization of Cardiac Troponin I As a Novel Disease Gene in Autosomal Dominant Dilated Cardiomyopathy

(2009) Sebastian Carballo et al.   CIRCULATION RESEARCH

Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2009) A. Dénise den Haan et al.   Circulation-Cardiovascular Genetics

Progress With Genetic Cardiomyopathies

(2009) Ray E. Hershberger et al.   Circulation-Heart Failure

Familial hypertrophic cardiomyopathy: Basic concepts and future molecular diagnostics

(2009) Jessica E. Rodríguez et al.   CLINICAL BIOCHEMISTRY

Restrictive cardiomyopathy

(2009) Jens Mogensen et al.   CURRENT OPINION IN CARDIOLOGY

Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy

(2009) Laëtitia Duboscq-Bidot et al.   EUROPEAN HEART JOURNAL

Ventricular fibrillation in MYH7-related hypertrophic cardiomyopathy before onset of ventricular hypertrophy

(2009) Imke Christiaans et al.   HEART RHYTHM

Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy

(2009) Barry J. Maron   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

(2009) Ray E. Hershberger et al.   JOURNAL OF CARDIAC FAILURE

Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy

(2009) J. Martijn Bos et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

ANKRD1, the Gene Encoding Cardiac Ankyrin Repeat Protein, Is a Novel Dilated Cardiomyopathy Gene

(2009) Mousumi Moulik et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Cardiac Ankyrin Repeat Protein Gene (ANKRD1) Mutations in Hypertrophic Cardiomyopathy

(2009) Takuro Arimura et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

(2009) Angeliki Asimaki et al.   NEW ENGLAND JOURNAL OF MEDICINE

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

(2009) Björn Hoffmann   Orphanet Journal of Rare Diseases

Noninvasive Evaluation of Left Ventricular Noncompaction: What’s New in 2009?

(2009) Benjamin W. Eidem   PEDIATRIC CARDIOLOGY

Estimating the number of unseen variants in the human genome

(2009) I. Ionita-Laza et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

(2008) Sharie B. Parks et al.   AMERICAN HEART JOURNAL

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

(2008) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

(2008) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

(2008) Sabine Klaassen et al.   CIRCULATION

Array-Based Resequencing Assay for Mutations Causing Hypertrophic Cardiomyopathy

(2008) S. Waldmuller et al.   CLINICAL CHEMISTRY

Coding Sequence Mutations Identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 Patients with Familial or Idiopathic Dilated Cardiomyopathy

(2008) Ray E. Hershberger et al.   CTS-Clinical and Translational Science

Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon?

(2008) Srijita Sen-Chowdhry et al.   CURRENT OPINION IN CARDIOLOGY

The cardiac sodium channel mutation delQKP 1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death

(2008) R. Shi et al.   EUROPACE

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

(2008) J P Kaski et al.   HEART

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

(2008) Siv Fokstuen et al.   HUMAN MUTATION

1000 Genomes Project Promises Closer Look at Variation in Human Genome

(2008) Bridget M. Kuehn   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Dilated cardiomyopathy: a review

(2008) A Luk et al.   JOURNAL OF CLINICAL PATHOLOGY

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

(2008) Andrew P. Landstrom et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Lamin A/C Gene and the Heart

(2008) Luisa Mestroni et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Introducing sense into nonsense in treatments of human genetic diseases

(2008) Liat Linde et al.   TRENDS IN GENETICS

A de novo Mutation of the Beta Cardiac Myosin Heavy Chain Gene in an Infantile Restrictive Cardiomyopathy

(2008) Simon Karam et al.   Congenital Heart Disease

Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression

(2008) Andre Keren et al.   Nature clinical practice. Cardiovascular medicine

Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2008) Mark M Awad et al.   Nature clinical practice. Cardiovascular medicine

Genetic Heterogeneity of Left-ventricular Noncompaction Cardiomyopathy

(2007) Ewa Moric-Janiszewska et al.   CLINICAL CARDIOLOGY

Deletion in TNNI3 gene is associated with restrictive cardiomyopathy

(2007) Anna Kostareva et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY