The genetic architecture of pediatric cardiomyopathy

Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy

(2021) Christopher M. Richmond et al.   GENETICS IN MEDICINE

An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

(2021) Elizabeth Jordan et al.   CIRCULATION

ACMG SF v3.0 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)

(2021) David T. Miller et al.   GENETICS IN MEDICINE

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

(2020) Francesco Mazzarotto et al.   CIRCULATION

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

(2020) Konrad J. Karczewski et al.   NATURE

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers

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

Novel BAG3 Variants in African American Patients With Cardiomyopathy: Reduced β-Adrenergic Responsiveness in Excitation–Contraction

(2020) Arthur M. Feldman et al.   JOURNAL OF CARDIAC FAILURE

Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

(2019) Gabrielle Norrish et al.   JAMA Cardiology

Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy – a pilot study

(2019) Elena Zaklyazminskaya et al.   Scientific Reports

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

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

(2018) Pamela Feliciano et al.   NEURON

Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals

(2018) Valerie D. Myers et al.   JAMA Cardiology

Genetic Basis of Severe Childhood-Onset Cardiomyopathies

(2018) Catalina Vasilescu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

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

Genetic Testing in Pediatric Cardiomyopathy

(2017) Chalani D. Ellepola et al.   PEDIATRIC CARDIOLOGY

Genetic Testing in Pediatric Left Ventricular NoncompactionCLINICAL PERSPECTIVE

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

Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations

(2017) Maria Franaszczyk et al.   PLoS One

Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans

(2016) NAB Ntusi et al.   Cardiovascular Journal of Africa

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai et al.   NEW ENGLAND JOURNAL OF MEDICINE

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy

(2016) Nina Nouhravesh et al.   Molecular Genetics & Genomic Medicine

Evaluation of genetic causes of cardiomyopathy in childhood

(2015) Stephanie M. Ware   CARDIOLOGY IN THE YOUNG

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

Sudden Death in Childhood Cardiomyopathy

(2015) Tara Bharucha et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   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

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

(2013) Jodie Ingles et al.   GENETICS IN MEDICINE

Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry

(2013) Steven E Lipshultz et al.   LANCET

Outcomes of Restrictive Cardiomyopathy in Childhood and the Influence of Phenotype

(2012) Steven A. Webber et al.   CIRCULATION

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

Incidence of and Risk Factors for Sudden Cardiac Death in Children With Dilated Cardiomyopathy

(2012) Elfriede Pahl et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Truncations of Titin Causing Dilated Cardiomyopathy

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

Identifying Sarcomere Gene Mutations in Hypertrophic Cardiomyopathy

(2011) Christine E. Seidman et al.   CIRCULATION RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The Pediatric Cardiomyopathy Registry and Heart Failure: Key Results from the First 15 Years

(2010) James D. Wilkinson et al.   Heart Failure Clinics

Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy

(2009) Juan Pablo Kaski et al.   Circulation-Cardiovascular Genetics

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

(2009) J. Chen et al.   NUCLEIC ACIDS RESEARCH

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

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