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

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

(2018) Sean V Tavtigian et al.   GENETICS IN MEDICINE

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

(2018) Nicola Whiffin et al.   GENETICS IN MEDICINE

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 Testing for Inherited Cardiac Diseases in Underserved Populations of Non-European Ancestry

(2018) Glenn S. Gerhard et al.   JAMA Cardiology

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

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

(2018) Carolyn Y. Ho et al.   CIRCULATION

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

(2018) Juan Pablo Ochoa et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A new era in the interpretation of human genomic variation

(2017) Heidi L Rehm   GENETICS IN MEDICINE

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy PatientsCLINICAL PERSPECTIVE

(2017) Juan Gómez et al.   Circulation-Cardiovascular Genetics

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes

(2017) Lorenzo Alamo et al.   eLife

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

(2016) Gail P. Jarvik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases

(2016) Yigal M. Pinto et al.   EUROPEAN HEART JOURNAL

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

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

(2016) Monkol Lek et al.   NATURE

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation

(2016) Julian R. Homburger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations

(2014) Raffaele Coppini et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

(2014) Rafael Valdés-Mas et al.   Nature Communications

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

Maturity onset diabetes of the young: identification and diagnosis

(2013) T. J. McDonald et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers

(2012) Ingrid A.W. van Rijsingen et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

(2007) Joël Vos et al.   PSYCHO-ONCOLOGY