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

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

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

Statistical inference in two-sample summary-data Mendelian randomization using robust adjusted profile score

(2020) Qingyuan Zhao et al.   ANNALS OF STATISTICS

Whole-genome sequencing of patients with rare diseases in a national health system

(2020) Ernest Turro et al.   NATURE

Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery

(2019) Krishna G. Aragam et al.   CIRCULATION

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

Indexing left ventricular wall thickness to body surface area improves prognostic value

(2019) Troy M. LaBounty et al.   ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES

Genome-Wide Analysis of Left Ventricular Image-Derived Phenotypes Identifies Fourteen Loci Associated with Cardiac Morphogenesis and Heart Failure Development

(2019) Nay Aung et al.   CIRCULATION

Effect of body surface area and gender on wall thickness thresholds in hypertrophic cardiomyopathy

(2019) R. Huurman et al.   Netherlands Heart Journal

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

(2018) Nicola Whiffin et al.   GENETICS IN MEDICINE

Multi-trait analysis of genome-wide association summary statistics using MTAG

(2018) Patrick Turley et al.   NATURE GENETICS

Causal associations between risk factors and common diseases inferred from GWAS summary data

(2018) Zhihong Zhu et al.   Nature Communications

The MR-Base platform supports systematic causal inference across the human phenome

(2018) Gibran Hemani et al.   eLife

Effect of Gender and Genetic Mutations on Outcomes in Patients with Hypertrophic Cardiomyopathy

(2018) Hannah G. van Velzen et al.   AMERICAN JOURNAL OF CARDIOLOGY

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Robust inference in summary data Mendelian randomization via the zero modal pleiotropy assumption

(2017) Fernando Pires Hartwig et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Geometry as a Confounder When Assessing Ventricular Systolic Function

(2017) Thomas M. Stokke et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

HSPB7 is indispensable for heart development by modulating actin filament assembly

(2017) Tongbin Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional mapping and annotation of genetic associations with FUMA

(2017) Kyoko Watanabe et al.   Nature Communications

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

(2017) Ulrike Esslinger et al.   PLoS One

Consistent Estimation in Mendelian Randomization with Some Invalid Instruments Using a Weighted Median Estimator

(2016) Jack Bowden et al.   GENETIC EPIDEMIOLOGY

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice

(2016) E. M. Green et al.   SCIENCE

Hypertrophic Cardiomyopathy Registry: The rationale and design of an international, observational study of hypertrophic cardiomyopathy

(2015) Christopher M. Kramer et al.   AMERICAN 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

Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression

(2015) J. Bowden et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

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

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

(2015) Jian Yang et al.   NATURE GENETICS

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

Myotonic dystrophy: time for evidence-based therapy

(2014) Perry Elliott   EUROPEAN HEART JOURNAL

Long-Term Outcomes After Medical and Invasive Treatment in Patients With Hypertrophic Cardiomyopathy

(2014) Pieter A. Vriesendorp et al.   JACC-Heart Failure

A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy

(2013) Benjamin Meder et al.   EUROPEAN HEART JOURNAL

Formin Homology 2 Domain Containing 3 Variants Associated With Hypertrophic Cardiomyopathy

(2012) Eric C. Wooten et al.   Circulation-Cardiovascular Genetics

Estimating Missing Heritability for Disease from Genome-wide Association Studies

(2011) Sang Hong Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

(2011) Eric Villard et al.   EUROPEAN HEART JOURNAL

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

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