The contribution of non-coding regulatory elements to cardiovascular disease

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

(2020) Francesco Mazzarotto et al.   CIRCULATION

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

(2020) Sonia Shah et al.   Nature Communications

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

(2020) Evgeny Z. Kvon et al.   CELL

Association Between Ambient Air Pollution and Cardiac Morpho-Functional Phenotypes

(2019) Nay Aung et al.   CIRCULATION

Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits

(2019) Jessica van Setten et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Platform for Generation of Chamber-Specific Cardiac Tissues and Disease Modeling

(2019) Yimu Zhao et al.   CELL

On the utilization of polygenic risk scores for therapeutic targeting

(2019) Greg Gibson   PLoS Genetics

Rare non-coding Desmoglein-2 variant contributes to Arrhythmogenic right ventricular cardiomyopathy

(2019) Alex Hørby Christensen et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Identification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 Regulation

(2019) Malou van den Boogaard et al.   Cell Reports

Role of SCN5A coding and non-coding sequences in Brugada syndrome onset: What's behind the scenes?

(2019) Houria Daimi et al.   Biomedical Journal

Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

(2019) Dimuthu Alankarage et al.   HUMAN MOLECULAR GENETICS

Activity-by-contact model of enhancer–promoter regulation from thousands of CRISPR perturbations

(2019) Charles P. Fulco et al.   NATURE GENETICS

Identification of atrial fibrillation associated genes and functional non-coding variants

(2019) Antoinette F. van Ouwerkerk et al.   Nature Communications

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

(2019) W. Scott Watkins et al.   Nature Communications

Genetics of coronary artery disease in the light of genome-wide association studies

(2018) Heribert Schunkert et al.   Clinical Research in Cardiology

CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy

(2018) Diogo Mosqueira et al.   EUROPEAN HEART JOURNAL

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity

(2018) Sam Chai et al.   JOURNAL OF CLINICAL INVESTIGATION

Interplay between cardiac transcription factors and non-coding RNAs in predisposing to atrial fibrillation

(2018) Alexander T. Mikhailov et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Genome Editing of Induced Pluripotent Stem Cells to Decipher Cardiac Channelopathy Variant

(2018) Priyanka Garg et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

From genome-wide associations to candidate causal variants by statistical fine-mapping

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

Emerging applications of genome-editing technology to examine functionality of GWAS-associated variants for complex traits

(2018) Andrew J. P. Smith et al.   PHYSIOLOGICAL GENOMICS

A promoter interaction map for cardiovascular disease genetics

(2018) Lindsey E Montefiori et al.   eLife

Enhancer redundancy provides phenotypic robustness in mammalian development

(2018) Marco Osterwalder et al.   NATURE

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

(2018) Jonas B. Nielsen et al.   NATURE GENETICS

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

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

Unveiling the Role of the Most Impactful Cardiovascular Risk Locus through Haplotype Editing

(2018) Valentina Lo Sardo et al.   CELL

LncRNA‐MIAT regulates fibrosis in hypertrophic cardiomyopathy (HCM) by mediating the expression of miR‐29a‐3p

(2018) Jing Zhou et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Genetic variant at coronary artery disease and ischemic stroke locus 1p32.2 regulates endothelial responses to hemodynamics

(2018) Matthew D. Krause et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Perspectives on the Use of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes in Biomedical Research

(2018) Christine L. Mummery   Stem Cell Reports

Discovery of novel heart rate-associated loci using the Exome Chip

(2017) Marten E. van den Berg et al.   HUMAN MOLECULAR GENETICS

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease

(2017) Amit V. Khera et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

(2017) Valérie Turcot et al.   NATURE GENETICS

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation

(2017) Ingrid E Christophersen et al.   NATURE GENETICS

Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease

(2017) Derek Klarin et al.   NATURE GENETICS

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

Association analyses based on false discovery rate implicate new loci for coronary artery disease

(2017) Christopher P Nelson et al.   NATURE GENETICS

Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements

(2017) Maxwell R Mumbach et al.   NATURE GENETICS

Regulatory Variants Modulate Protein Kinase C α (PRKCA) Gene Expression in Human Heart

(2017) Liang Li et al.   PHARMACEUTICAL RESEARCH

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

(2017) Bo Yang et al.   Nature Communications

Diminished PRRX1 Expression Is Associated With Increased Risk of Atrial Fibrillation and Shortening of the Cardiac Action PotentialCLINICAL PERSPECTIVE

(2017) Nathan R. Tucker et al.   Circulation-Cardiovascular Genetics

A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a

(2016) Jiangchuan Ye et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The impact of recent advances in genetics in understanding disease mechanisms underlying the long QT syndromes

(2016) Stephen C. Harmer et al.   BIOLOGICAL CHEMISTRY

Complex Interdependence Regulates Heterotypic Transcription Factor Distribution and Coordinates Cardiogenesis

(2016) Luis Luna-Zurita et al.   CELL

Genetic Risk Prediction of Atrial FibrillationClinical Perspective

(2016) Steven A. Lubitz et al.   CIRCULATION

New Insights Into the Genetic Basis of Inherited Arrhythmia Syndromes

(2016) Belinda Gray et al.   Circulation-Cardiovascular Genetics

Identification of a regulatory domain controlling theNppa-Nppbgene cluster during heart development and stress

(2016) Irina A. Sergeeva et al.   DEVELOPMENT

The impact of genome‐wide association studies on the pathophysiology and therapy of cardiovascular disease

(2016) Thorsten Kessler et al.   EMBO Molecular Medicine

miR-208b upregulation interferes with calcium handling in HL-1 atrial myocytes: Implications in human chronic atrial fibrillation

(2016) Susana Cañón et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

52 Genetic Loci Influencing Myocardial Mass

(2016) Pim van der Harst et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The long noncoding RNA Chaer defines an epigenetic checkpoint in cardiac hypertrophy

(2016) Zhihua Wang et al.   NATURE MEDICINE

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

(2016) Noura S. Abul-Husn et al.   SCIENCE

Emerging Field of Cardiomics: High-Throughput Investigations into Transcriptional Regulation of Cardiovascular Development and Disease

(2016) Christopher E. Slagle et al.   TRENDS IN GENETICS

Genome-wide compendium and functional assessment of in vivo heart enhancers

(2016) Diane E. Dickel et al.   Nature Communications

Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci

(2016) Clint L. Miller et al.   Nature Communications

Whole Exome Sequencing in Atrial Fibrillation

(2016) Steven A. Lubitz et al.   PLoS Genetics

New Insights Into the Genetic Basis of Inherited Arrhythmia Syndromes

(2016) Belinda Gray et al.   Circulation-Cardiovascular Genetics

Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel

(2016) Eva Lana-Elola et al.   eLife

Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures

(2016) Xinchen Wang et al.   eLife

Myocardial Infarction-Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries

(2015) M. Beaudoin et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Long Noncoding RNAs in Cardiovascular Diseases

(2015) S. Uchida et al.   CIRCULATION RESEARCH

Genetics of atrial fibrillation: from families to genomes

(2015) Ingrid E Christophersen et al.   JOURNAL OF HUMAN GENETICS

Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials

(2015) Jessica L Mega et al.   LANCET

An Overview of Genome Organization and How We Got There: from FISH to Hi-C

(2015) James Fraser et al.   MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

(2015) Majid Nikpay et al.   NATURE GENETICS

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval

(2014) Ashish Kapoor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

(2014) Saeed Al Turki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deep RNA Sequencing Reveals Dynamic Regulation of Myocardial Noncoding RNAs in Failing Human Heart and Remodeling With Mechanical Circulatory Support

(2014) Kai-Chien Yang et al.   CIRCULATION

Pitx2, an Atrial Fibrillation Predisposition Gene, Directly Regulates Ion Transport and Intercalated Disc Genes

(2014) Y. Tao et al.   Circulation-Cardiovascular Genetics

Whole Exome Sequencing for Familial Bicuspid Aortic Valve Identifies Putative Variants

(2014) L. J. Martin et al.   Circulation-Cardiovascular Genetics

A common genetic variant within SCN10A modulates cardiac SCN5A expression

(2014) Malou van den Boogaard et al.   JOURNAL OF CLINICAL INVESTIGATION

Functional importance of cardiac enhancer-associated noncoding RNAs in heart development and disease

(2014) Samir Ounzain et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Principles of regulatory information conservation between mouse and human

(2014) Yong Cheng et al.   NATURE

Obesity-associated variants within FTO form long-range functional connections with IRX3

(2014) Scott Smemo et al.   NATURE

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

(2014) Dan E Arking et al.   NATURE GENETICS

Atrial Fibrillation Associated Chromosome 4q25 Variants Are Not Associated with PITX2c Expression in Human Adult Left Atrial Appendages

(2014) Shamone R. Gore-Panter et al.   PLoS One

Dynamic GATA4 enhancers shape the chromatin landscape central to heart development and disease

(2014) Aibin He et al.   Nature Communications

Identification of a KCNQ1 Polymorphism Acting as a Protective Modifier Against Arrhythmic Risk in Long-QT Syndrome

(2013) Sabine Duchatelet et al.   Circulation-Cardiovascular Genetics

The Tissue-Specific lncRNA Fendrr Is an Essential Regulator of Heart and Body Wall Development in the Mouse

(2013) Phillip Grote et al.   DEVELOPMENTAL CELL

Transcriptome sequencing during mouse brain development identifies long non-coding RNAs functionally involved in neurogenic commitment

(2013) Julieta Aprea et al.   EMBO JOURNAL

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

(2013) Benjamin Meder et al.   EUROPEAN HEART JOURNAL

Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

(2013) D. S. Paul et al.   GENOME RESEARCH

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

(2013) H. J. Cordell et al.   HUMAN MOLECULAR GENETICS

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

(2013) Heather J Cordell et al.   NATURE GENETICS

Genome-wide analysis of histone marks identifying an epigenetic signature of promoters and enhancers underlying cardiac hypertrophy

(2013) R. Papait et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome Analysis of a Family With Pleiotropic Congenital Heart Disease

(2012) Cammon B. Arrington et al.   Circulation-Cardiovascular Genetics

Functional analyses of coronary artery disease associated variation on chromosome 9p21 in vascular smooth muscle cells

(2012) A. Motterle et al.   HUMAN MOLECULAR GENETICS

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer

(2012) Malou van den Boogaard et al.   JOURNAL OF CLINICAL INVESTIGATION

Common Variation in the NOS1AP Gene Is Associated With Drug-Induced QT Prolongation and Ventricular Arrhythmia

(2012) Yalda Jamshidi et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Epistatic Effects of Potassium Channel Variation on Cardiac Repolarization and Atrial Fibrillation Risk

(2012) Stefan A. Mann et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Meta-analysis identifies six new susceptibility loci for atrial fibrillation

(2012) Patrick T Ellinor et al.   NATURE GENETICS

Truncations of Titin Causing Dilated Cardiomyopathy

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

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

(2011) Nadine Norton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional Variant in Methionine Synthase Reductase Intron-1 Significantly Increases the Risk of Congenital Heart Disease in the Han Chinese Population

(2011) Jian-Yuan Zhao et al.   CIRCULATION

Prevalence and Distribution of Sarcomeric Gene Mutations in Japanese Patients With Familial Hypertrophic Cardiomyopathy

(2011) Haruna Otsuka et al.   CIRCULATION JOURNAL

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

(2011) Olivier Harismendy et al.   NATURE

Genome-Wide Association Studies of the PR Interval in African Americans

(2011) J. Gustav Smith et al.   PLoS Genetics

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice

(2010) Axel Visel et al.   NATURE

The changing epidemiology of congenital heart disease

(2010) Teun van der Bom et al.   Nature Reviews Cardiology

Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome

(2010) Alessandra Moretti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Association Study Identifies HSPB7 as a Risk Gene for Idiopathic Dilated Cardiomyopathy

(2010) Klaus Stark et al.   PLoS Genetics

NOS1AP Is a Genetic Modifier of the Long-QT Syndrome

(2009) Lia Crotti et al.   CIRCULATION

Familial Aggregation of Atrial Fibrillation

(2009) Ingrid Elisabeth Christophersen et al.   Circulation-Arrhythmia and Electrophysiology

Mutational analysis of the PITX2 and NKX2-5 genes in patients with idiopathic atrial fibrillation

(2009) Leif-Hendrik Boldt et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Inactivation of the Fto gene protects from obesity

(2009) Julia Fischer et al.   NATURE

CAPON modulates cardiac repolarization via neuronal nitric oxide synthase signaling in the heart

(2008) K.-C. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA