Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

(2021) Andrew R. Harper et al.   NATURE GENETICS

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

(2021) Rafik Tadros et al.   NATURE GENETICS

An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

(2021) Elizabeth Jordan et al.   CIRCULATION

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

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

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

(2021) Joseph D. Szustakowski et al.   NATURE GENETICS

Comparison of risk factor associations in UK Biobank against representative, general population based studies with conventional response rates: prospective cohort study and individual participant meta-analysis

(2020) G David Batty et al.   BMJ-British Medical Journal

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

(2020) Konrad J. Karczewski et al.   NATURE

The UK Biobank imaging enhancement of 100,000 participants: rationale, data collection, management and future directions

(2020) Thomas J. Littlejohns et al.   Nature Communications

Revisiting the Diagnostic Yield of Hypertrophic Cardiomyopathy Genetic Testing

(2020) Alexandra Butters 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 and functional insights into the fractal structure of the heart

(2020) Hannah V. Meyer et al.   NATURE

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

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

(2019) Roddy Walsh et al.   Genome Medicine

ACMG response to Nussbaum et al. letter on ACMG policy statement: the use of secondary findings recommendations for general population screening: a policy statement of the ACMG

(2019)   GENETICS IN MEDICINE

Automatic 3D Bi-Ventricular Segmentation of Cardiac Images by a Shape-Refined Multi- Task Deep Learning Approach

(2019) Jinming Duan et al.   IEEE TRANSACTIONS ON MEDICAL IMAGING

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

(2018) Nicola Whiffin et al.   GENETICS IN MEDICINE

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

(2018) Carolyn Y. Ho et al.   CIRCULATION

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Women with hypertrophic cardiomyopathy have worse survival

(2017) Jeffrey B Geske et al.   EUROPEAN HEART JOURNAL

Collider scope: when selection bias can substantially influence observed associations

(2017) Marcus R Munafò et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Nonfamilial Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE

(2017) Jodie Ingles et al.   Circulation-Cardiovascular Genetics

Introduction to the Analysis of Survival Data in the Presence of Competing Risks

(2016) Peter C. Austin et al.   CIRCULATION

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

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

(2016) Sebastian Schafer et al.   NATURE GENETICS

How Hypertrophic Cardiomyopathy Became a Contemporary Treatable Genetic Disease With Low Mortality

(2016) Barry J. Maron et al.   JAMA Cardiology

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

New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

(2015) Christopher Semsarian et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Precursors of Hypertensive Heart Phenotype Develop in Healthy Adults

(2015) Antonio de Marvao et al.   JACC-Cardiovascular Imaging

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

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

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

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

(2012) Alexander G. Bick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of Hypertrophic Cardiomyopathy After 20 Years

(2012) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Myocardial Fibrosis as an Early Manifestation of Hypertrophic Cardiomyopathy

(2010) Carolyn Y. Ho et al.   NEW ENGLAND JOURNAL OF MEDICINE