Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

Association of Titin Variations With Late-Onset Dilated Cardiomyopathy

(2022) Antonio Cannatà et al.   JAMA Cardiology

Genetic Basis of Left Ventricular Noncompaction

(2022) Pakdee Rojanasopondist et al.   Circulation-Genomic and Precision Medicine

Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years

(2021) Alexandre Janin et al.   Molecular Diagnosis & Therapy

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure

(2021) Mohammed Majid Akhtar et al.   JAMA Cardiology

Deciphering pathogenicity of variants of uncertain significance with CRISPR-edited iPSCs

(2021) Hongchao Guo et al.   TRENDS IN GENETICS

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis

(2021) Amy C. Sturm et al.   JAMA Cardiology

Genomic Autopsy of Sudden Deaths in Young Individuals

(2021) Gregory Webster et al.   JAMA Cardiology

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes

(2021) Zachary T. Yoneda et al.   JAMA Cardiology

Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

(2021) Andrew P. Landstrom et al.   Circulation-Genomic and Precision Medicine

Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions

(2021) Dana B. Gal et al.   PEDIATRIC CARDIOLOGY

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

(2020) Sonia Shah et al.   Nature Communications

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

Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?

(2020) Francesco Mazzarotto et al.   Journal of the American Heart Association

Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics

(2020) Sara Hoss et al.   Circulation-Genomic and Precision Medicine

Inherited cardiac arrhythmias

(2020) Peter J. Schwartz et al.   Nature Reviews Disease Primers

Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association

(2020) Kiran Musunuru 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

“Concealed cardiomyopathy” as a cause of previously unexplained sudden cardiac arrest

(2020) Julia C. Isbister et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy

(2020) Steve R. Ommen et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing

(2019) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Biophysical and Mechanistic Models for Disease-Causing Protein Variants

(2019) Amelie Stein et al.   TRENDS IN BIOCHEMICAL SCIENCES

A systematic review and meta-analysis of the prevalence of left ventricular non-compaction in adults

(2019) Samantha B Ross et al.   EUROPEAN HEART JOURNAL

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

(2019) Christopher M. Haggerty et al.   CIRCULATION

Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association

(2019) Ferhaan Ahmad et al.   Circulation-Genomic and Precision Medicine

Genetic Arrhythmias Complicating Patients with Dilated Cardiomyopathy

(2019) Zongzhe Li et al.   HEART RHYTHM

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary

(2019) Jeffrey A. Towbin et al.   HEART RHYTHM

Risk Stratification for Sudden Cardiac Death in Non-Ischaemic Dilated Cardiomyopathy

(2019) M. Akhtar et al.   Current Cardiology Reports

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

(2018) Rebecca Truty 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

Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment

(2018) Omar K. Siddiqi et al.   TRENDS IN CARDIOVASCULAR MEDICINE

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

Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening

(2018) Charles Muller et al.   Clinical Gastroenterology and Hepatology

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

(2018) Carolyn Y. Ho et al.   CIRCULATION

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

(2018) Seung Hoan Choi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Role of Genetic Testing in Inherited Cardiovascular Disease

(2017) Allison L. Cirino et al.   JAMA Cardiology

2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death

(2017) Sana M. Al-Khatib et al.   CIRCULATION

Occurrence of Clinically Diagnosed Hypertrophic Cardiomyopathy in the United States

(2016) Martin S. Maron 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

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai 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

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(2016)   CLINICAL GENETICS

The Rationale and Timing of Molecular Genetic Testing for Dilated Cardiomyopathy

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

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

A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

(2015) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise

(2014) Jamie D. Kapplinger et al.   Journal of Cardiovascular Translational Research

The Electronic Medical Records and Genomics (eMERGE) Network: past, present and future

(2013) Omri Gottesman et al.   GENETICS IN MEDICINE

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

(2013) Silvia G. Priori et al.   HEART RHYTHM

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

Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy

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