Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants

(2019) Christopher M. Haggerty et al.   CIRCULATION

A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes

(2019) Joseph Park et al.   GENETICS IN MEDICINE

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

(2017) Christopher M Haggerty et al.   GENETICS IN MEDICINE

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Comparison of the Frequency of Sudden Cardiovascular Deaths in Young Competitive Athletes Versus Nonathletes: Should We Really Screen Only Athletes?

(2016) Barry J. Maron et al.   AMERICAN JOURNAL OF 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

The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research

(2016) David J. Carey 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

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

Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2015) Anneline S.J.M. te Riele et al.   EUROPEAN HEART JOURNAL

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

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

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

Yield of Serial Evaluation in At-Risk Family Members of Patients With ARVD/C

(2014) Anneline S.J.M. te Riele et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

(2013) Charlotte Andreasen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Malignant Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy with a normal 12-lead electrocardiogram: A rare but underrecognized clinical entity

(2013) Anneline S.J.M. te Riele et al.   HEART RHYTHM

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

Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Giovanni Quarta et al.   CIRCULATION

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

(2011) Jamie D. Kapplinger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Pathophysiology of arrhythmogenic cardiomyopathy

(2011) Cristina Basso et al.   Nature Reviews Cardiology

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

Arrhythmogenic right ventricular cardiomyopathy

(2009) Cristina Basso et al.   LANCET