Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans

(2017) Joel N. Buxbaum et al.   GENETICS IN MEDICINE

Cardiac involvement in female carriers of duchenne or becker muscular dystrophy

(2017) Thomas Mccaffrey et al.   MUSCLE & NERVE

Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test InterpretationCLINICAL PERSPECTIVE

(2017) Aisha Furqan et al.   Circulation-Cardiovascular Genetics

Genetic Testing in Pediatric Left Ventricular NoncompactionCLINICAL PERSPECTIVE

(2017) Erin M. Miller et al.   Circulation-Cardiovascular Genetics

Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients With Hypertrophic Cardiomyopathy

(2016) Hannah G. van Velzen et al.   AMERICAN JOURNAL OF CARDIOLOGY

Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association

(2016) Seema Mital et al.   Circulation-Cardiovascular Genetics

Phenotype-driven molecular autopsy for sudden cardiac death

(2016) F. Cann et al.   CLINICAL GENETICS

Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals

(2016) Elham Kayvanpour et al.   Clinical Research in Cardiology

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

(2016) Sara L. Van Driest et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease

(2016) Maria Gallego-Delgado 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

Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy

(2016) Michael A. Burke et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Titin-truncating variants affect heart function in disease cohorts and the general population

(2016) Sebastian Schafer et al.   NATURE GENETICS

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

(2016) James S. Ware et al.   NEW ENGLAND JOURNAL OF MEDICINE

Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association

(2016) Seema Mital et al.   Circulation-Cardiovascular Genetics

Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy

(2015) Pamela A. Long et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Rationale and Timing of Molecular Genetic Testing for Dilated Cardiomyopathy

(2015) Ana Morales et al.   CANADIAN JOURNAL OF CARDIOLOGY

Evaluation of genetic causes of cardiomyopathy in childhood

(2015) Stephanie M. Ware   CARDIOLOGY IN THE YOUNG

Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

(2015) Domenico Corrado et al.   CIRCULATION

A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart DiseasesNovelty and Significance

(2015) Kitchener D. Wilson et al.   CIRCULATION RESEARCH

Arrhythmogenic Right Ventricular Cardiomyopathy

(2015) Kyla E. Dunn et al.   Circulation-Cardiovascular Genetics

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE

(2015) Judith A. Groeneweg et al.   Circulation-Cardiovascular Genetics

Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives

(2015) C. Semsarian et al.   EUROPEAN HEART JOURNAL

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Cardiac amyloidosis: the great pretender

(2015) Claudio Rapezzi et al.   HEART FAILURE REVIEWS

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Arrhythmogenic Right Ventricular Cardiomyopathy

(2015) Kyla E. Dunn et al.   Circulation-Cardiovascular Genetics

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE

(2015) Judith A. Groeneweg et al.   Circulation-Cardiovascular Genetics

Diltiazem Treatment for Pre-Clinical Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers

(2015) Carolyn Y. Ho et al.   JACC-Heart Failure

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

(2015) Ozge Ceyhan-Birsoy et al.   Molecular Genetics & Genomic Medicine

Genotype-Positive Status in Patients With Hypertrophic Cardiomyopathy Is Associated With Higher Rates of Heart Failure Events

(2014) Q. Li et al.   Circulation-Cardiovascular Genetics

Outcome in Phospholamban R14del Carriers: Results of a Large Multicentre Cohort Study

(2014) I. A. W. van Rijsingen et al.   Circulation-Cardiovascular Genetics

Atlas of the clinical genetics of human dilated cardiomyopathy

(2014) Jan Haas et al.   EUROPEAN HEART JOURNAL

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

(2014) Trevor J. Pugh et al.   GENETICS IN MEDICINE

The cost-effectiveness of returning incidental findings from next-generation genomic sequencing

(2014) Caroline S. Bennette et al.   GENETICS IN MEDICINE

Conveying a probabilistic genetic test result to families with an inherited heart disease

(2014) Jodie Ingles et al.   HEART RHYTHM

Left Ventricular Noncompaction

(2014) Eloisa Arbustini et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Arrhythmogenic right ventricular cardiomyopathy/Dysplasia (ARVC/D)

(2013) V. Ramesh Iyer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

2013 ACCF/AHA Guideline for the Management of Heart Failure: Executive Summary

(2013) Clyde W. Yancy et al.   CIRCULATION

Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrate the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy

(2013) Nadine Norton et al.   Circulation-Cardiovascular Genetics

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

(2013) Jodie Ingles et al.   GENETICS IN MEDICINE

Exercise Increases Age-Related Penetrance and Arrhythmic Risk in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy–Associated Desmosomal Mutation Carriers

(2013) Cynthia A. James et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

(2013) Ray E. Hershberger et al.   Nature Reviews Cardiology

Cardiac Structural and Sarcomere Genes Associated With Cardiomyopathy Exhibit Marked Intolerance of Genetic Variation

(2012) Stephen Pan et al.   Circulation-Cardiovascular Genetics

Population-Based Variation in Cardiomyopathy Genes

(2012) Jessica R. Golbus et al.   Circulation-Cardiovascular Genetics

Pediatric Cardiomyopathy: Importance of Genetic and Metabolic Evaluation

(2012) Steven J. Kindel et al.   JOURNAL OF CARDIAC FAILURE

Genetic Testing for Dilated Cardiomyopathy in Clinical Practice

(2012) Neal K. Lakdawala et al.   JOURNAL OF CARDIAC FAILURE

Uptake of Cardiac Screening and Genetic Testing Among Hypertrophic and Dilated Cardiomyopathy Families

(2012) Erin M. Miller et al.   Journal of Genetic Counseling

Inherited Cardiomyopathies

(2012) Polakit Teekakirikul et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers

(2012) Ingrid A.W. van Rijsingen et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Iron Overload in Human Disease

(2012) Robert E. Fleming et al.   NEW ENGLAND JOURNAL OF MEDICINE

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

(2011) Nadine Norton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Arrhythmogenic Cardiomyopathy

(2011) Jeffrey E. Saffitz   CIRCULATION

Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Giovanni Quarta et al.   CIRCULATION

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy

(2011) et al.   CIRCULATION

Sarcomere Gene Mutations in Isolated Left Ventricular Noncompaction Cardiomyopathy Do Not Predict Clinical Phenotype

(2011) Susanne Probst et al.   Circulation-Cardiovascular Genetics

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy

(2011) Jodie Ingles et al.   HEART

Guidelines for Genetic Testing of Inherited Cardiac Disorders

(2011) Jodie Ingles et al.   Heart Lung and Circulation

Peripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy

(2010) Karin Y. van Spaendonck-Zwarts et al.   CIRCULATION

Rare Variant Mutations in Pregnancy-Associated or Peripartum Cardiomyopathy

(2010) Ana Morales et al.   CIRCULATION

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

(2010) Perry Elliott et al.   Circulation-Cardiovascular Genetics

Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals

(2010) Ray E Hershberger et al.   GENETICS IN MEDICINE

Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

(2010) Tianhong Xu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

(2009) Karen D Tsuchiya et al.   GENETICS IN MEDICINE

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

(2009) Barbara Bauce et al.   HEART RHYTHM

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

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

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

(2009) Katharine M. Brauch et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

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

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

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

(2008) Hiroyuki Morita et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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