Variant Interpretation for Dilated Cardiomyopathy

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

(2018) Ray E. Hershberger et al.   GENETICS IN MEDICINE

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

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

(2018) Ray E. Hershberger et al.   JOURNAL OF CARDIAC FAILURE

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy

(2018) Latrice G. Landry et al.   JAMA Cardiology

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

(2018) Laura V. Milko et al.   GENETICS IN MEDICINE

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing

(2018) Jacqueline Mersch et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Enhancing diversity to reduce health information disparities and build an evidence base for genomic medicine

(2018) Lucia A Hindorff et al.   Personalized Medicine

Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy

(2017) Daniel D. Kinnamon et al.   Circulation-Cardiovascular Genetics

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All ThreeCLINICAL PERSPECTIVE

(2016) Rahul C. Deo   Circulation-Cardiovascular Genetics

Relevance of truncating titin mutations in dilated cardiomyopathy

(2016) O. Akinrinade et al.   CLINICAL GENETICS

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

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

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

(2016) Sebastian Schafer et al.   NATURE GENETICS

Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All ThreeCLINICAL PERSPECTIVE

(2016) Rahul C. Deo   Circulation-Cardiovascular Genetics

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

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

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

(2014) Gail P. Jarvik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sodium Channelopathy Underlying Familial Sick Sinus Syndrome With Early Onset and Predominantly Male Characteristics

(2014) Keisuke Abe et al.   Circulation-Arrhythmia and Electrophysiology

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

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

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

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

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation

(2014) Maria Franaszczyk et al.   Journal of Translational Medicine

Brugada Syndrome 2012

(2012) Paola Berne et al.   CIRCULATION JOURNAL

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

Lethal, Hereditary Mutants of Phospholamban Elude Phosphorylation by Protein Kinase A

(2012) Delaine K. Ceholski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Truncations of Titin Causing Dilated Cardiomyopathy

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

A Proton Leak Current through the Cardiac Sodium Channel Is Linked to Mixed Arrhythmia and the Dilated Cardiomyopathy Phenotype

(2012) Pascal Gosselin-Badaroudine et al.   PLoS One

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

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing

(2010) Andrew P. Landstrom et al.   AMERICAN HEART JOURNAL

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

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

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

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

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