Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association

(2023) Andrew P. Landstrom et al.   Circulation-Genomic and Precision Medicine

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

(2022) Marina T. DiStefano et al.   GENETICS IN MEDICINE

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases

(2022) Arthur A.M. Wilde et al.   HEART RHYTHM

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2022) David T. Miller et al.   GENETICS IN MEDICINE

An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

(2021) Elizabeth Jordan et al.   CIRCULATION

An International Evidence Based Reappraisal of Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) using the ClinGen Framework

(2021) Cynthia A. James et al.   Circulation-Genomic and Precision Medicine

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

(2021) Roddy Walsh et al.   EUROPEAN HEART JOURNAL

Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics

(2021) Eloisa Arbustini et al.   EUROPEAN HEART JOURNAL

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

(2020) Arnon Adler et al.   CIRCULATION

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Variant Interpretation for Dilated Cardiomyopathy

(2020) Ana Morales et al.   Circulation-Genomic and Precision Medicine

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers

(2020) Massimiliano Lorenzini et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2020) Kiran Musunuru et al.   Circulation-Genomic and Precision Medicine

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

(2020) Roddy Walsh et al.   GENETICS IN MEDICINE

The Human Phenotype Ontology in 2021

(2020) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular non‐compaction phenotype

(2019) Konstantinos Kolokotronis et al.   HUMAN MUTATION

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

(2019) Anja Thormann et al.   Nature Communications

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

(2019) Lia Crotti et al.   EUROPEAN HEART JOURNAL

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

(2018) S. Mohsen Hosseini et al.   CIRCULATION

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

Dilated cardiomyopathy myosin mutants have reduced force-generating capacity

(2018) Zoltan Ujfalusi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

(2017) Roddy Walsh et al.   EUROPEAN HEART JOURNAL

Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling

(2017) Hsiang-Chun Lee et al.   Journal of Medical and Biological Engineering

ClinVar: improving access to variant interpretations and supporting evidence

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

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

(2016) Sebastian Schafer et al.   NATURE GENETICS

Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers

(2015) Aditya Bhonsale 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

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

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

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

Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

(2010) Francesca Girolami et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

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

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