Role of non‐coding variants in cardiovascular disease

Polygenic overlap and shared genetic loci between loneliness, severe mental disorders, and cardiovascular disease risk factors suggest shared molecular mechanisms

(2021) Linn Rødevand et al.   Translational Psychiatry

Shared Genetic Liability and Causal Associations Between Major Depressive Disorder and Cardiovascular Diseases

(2021) Fuquan Zhang et al.   Frontiers in Cardiovascular Medicine

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

(2020) Francesco Mazzarotto et al.   CIRCULATION

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct from Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

(2020) Eric D. Smith et al.   CIRCULATION

Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease

(2020) Pengwei Hu et al.   CIRCULATION

Variant Interpretation for Dilated Cardiomyopathy

(2020) Ana Morales et al.   Circulation-Genomic and Precision Medicine

Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy

(2020) Luis R. Lopes et al.   Circulation-Genomic and Precision Medicine

The contribution of non-coding regulatory elements to cardiovascular disease

(2020) Diego Villar et al.   Open Biology

Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports

(2020) Anna Keravnou et al.   Molecular Genetics & Genomic Medicine

Allele Frequency of ACE2 Intron Variants and Its Association with Blood Pressure

(2020) Karla Lozano-Gonzalez et al.   DNA AND CELL BIOLOGY

Genetic variant associated with stroke outcomes

(2019) Rebecca Kelsey   Nature Reviews Neurology

A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)

(2019) Malena P. Pantou et al.   BMC Medical Genetics

Heart failure in cardiomyopathies: a position paper from the Heart Failure Association of the European Society of Cardiology

(2019) Petar M. Seferović et al.   EUROPEAN JOURNAL OF HEART FAILURE

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

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

Disrupted mechanobiology links the molecular and cellular phenotypes in familial dilated cardiomyopathy

(2019) Sarah R. Clippinger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genes Potentially Associated with Familial Hypercholesterolemia

(2019) Svetlana Mikhailova et al.   Biomolecules

Precision Medicine in the Management of Dilated Cardiomyopathy

(2019) Diane Fatkin et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Sex- and age-based differences in the natural history and outcome of dilated cardiomyopathy

(2018) Brian P. Halliday et al.   EUROPEAN JOURNAL OF HEART FAILURE

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

(2018) Claire Horvat et al.   GENETICS IN MEDICINE

Eukaryotic core promoters and the functional basis of transcription initiation

(2018) Vanja Haberle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Genetic variants in mRNA untranslated regions

(2018) Maristella Steri et al.   Wiley Interdisciplinary Reviews-RNA

Unusual genetic variants associated with hypercholesterolemia in Argentina

(2018) Pablo Corral et al.   ATHEROSCLEROSIS

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

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

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

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

(2018) Carolyn Y. Ho et al.   CIRCULATION

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

(2018) Seung Hoan Choi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy

(2017) Edgar T. Hoorntje et al.   EUROPEAN JOURNAL OF HEART FAILURE

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

(2017) Giulio Calcagni et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

(2017) Christopher M Haggerty et al.   GENETICS IN MEDICINE

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries

(2017) Raul D. Santos et al.   Journal of Clinical Lipidology

Phenotype and Clinical Outcomes of Titin Cardiomyopathy

(2017) Upasana Tayal et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Comparison of 10 murine models reveals a distinct biomechanical phenotype in thoracic aortic aneurysms

(2017) C. Bellini et al.   Journal of the Royal Society Interface

Global, regional, and national burden of neurological disorders during 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015

(2017) Valery L Feigin et al.   LANCET NEUROLOGY

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

(2017) Helen R Warren 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

Human gene essentiality

(2017) István Bartha et al.   NATURE REVIEWS GENETICS

Rare non-coding variants are associated with plasma lipid traits in a founder population

(2017) Catherine Igartua et al.   Scientific Reports

Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome

(2017) Elizaveta Mamedova et al.   Endocrine Connections

A Functional Variant of SMAD4 Enhances Thoracic Aortic Aneurysm and Dissection Risk through Promoting Smooth Muscle Cell Apoptosis and Proteoglycan Degradation

(2017) Ying Wang et al.   EBioMedicine

A TBX5 3′UTR variant increases the risk of congenital heart disease in the Han Chinese population

(2017) Feng Wang et al.   Cell Discovery

Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy

(2017) Rita Mendes de Almeida et al.   PLoS One

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

(2016) Alice E. Davidson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Responding to challenges for people with psychotic illness: Updated evidence from the Survey of High Impact Psychosis

(2016) Vera A Morgan et al.   AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

(2016) J. Thevenon et al.   CLINICAL GENETICS

Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals

(2016) Elham Kayvanpour et al.   Clinical Research in Cardiology

Non-Coding Loss-of-Function Variation in Human Genomes

(2016) Zachary Zappala et al.   HUMAN HEREDITY

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

(2016) Sarah Leigh et al.   JOURNAL OF MEDICAL GENETICS

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

(2016) Martín F. Ortiz-Genga et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

(2016) J. K. Poninska et al.   Journal of Translational Medicine

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

(2016) Alejandro Sifrim et al.   NATURE GENETICS

Noncoding Genome‐Wide Association Studies Variant for Obesity: Inroads Into Mechanism

(2016) Connie Wu et al.   Journal of the American Heart Association

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The fat mass and obesity-associated (FTO) gene variant rs9939609 predicts long-term incidence of cardiovascular disease and related death independent of the traditional risk factors

(2015) Meiju Äijälä et al.   ANNALS OF MEDICINE

Genetic advances in sarcomeric cardiomyopathies: state of the art

(2015) C. Y. Ho et al.   CARDIOVASCULAR RESEARCH

Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease

(2015) Faisal A. Al-Allaf et al.   GENE

Association of MEF2A gene 3'UTR mutations with coronary artery disease

(2015) X.C. Huang et al.   GENETICS AND MOLECULAR RESEARCH

Non-coding genetic variants in human disease: Figure 1.

(2015) Feng Zhang et al.   HUMAN MOLECULAR GENETICS

Non-coding genome functions in diabetes

(2015) Inês Cebola et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

A Case of Rheumatoid Arthritis Associated with SMAD3 Gene Mutation: A New Clinical Entity?

(2015) E. BERTHET et al.   JOURNAL OF RHEUMATOLOGY

Hypertrophic Cardiomyopathy in Adulthood Associated With Low Cardiovascular Mortality With Contemporary Management Strategies

(2015) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

The Genetic and Mechanistic Basis for Variation in Gene Regulation

(2015) Athma A. Pai et al.   PLoS Genetics

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

(2014) Leslie A. Lange et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic variation in the non-coding genome: Involvement of micro-RNAs and long non-coding RNAs in disease

(2014) Barbara Hrdlickova et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

(2014) M. Cuchel et al.   EUROPEAN HEART JOURNAL

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Atlas of the clinical genetics of human dilated cardiomyopathy

(2014) Jan Haas et al.   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

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

(2014) Luis R Lopes et al.   HEART

Negative autopsy and sudden cardiac death

(2014) Oscar Campuzano et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease

(2014) Gillian M. Blue et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

(2014) Mélodie Aubart et al.   PLoS One

Effects of GWAS-Associated Genetic Variants on lncRNAs within IBD and T1D Candidate Loci

(2014) Aashiq H. Mirza et al.   PLoS One

Computational approaches to interpreting genomic sequence variation

(2014) Graham RS Ritchie et al.   Genome Medicine

Beyond GWASs: Illuminating the Dark Road from Association to Function

(2013) Stacey L. Edwards et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Estimation and Partition of Heritability in Human Populations Using Whole-Genome Analysis Methods

(2013) Anna A.E. Vinkhuyzen et al.   Annual Review of Genetics

Of mice and men: molecular genetics of congenital heart disease

(2013) Troels Askhøj Andersen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Worldwide Epidemiology of Atrial Fibrillation

(2013) Sumeet S. Chugh et al.   CIRCULATION

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

Novel Predictors of Left Ventricular Reverse Remodeling in Individuals With Recent-Onset Dilated Cardiomyopathy

(2013) Milos Kubanek et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

(2013) Philippa J Talmud et al.   LANCET

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

(2013) Ray E. Hershberger et al.   Nature Reviews Cardiology

Detection and Impact of Rare Regulatory Variants in Human Disease

(2013) Xin Li et al.   Frontiers in Genetics

Identifying miRNAs, targets and functions

(2012) B. Liu et al.   BRIEFINGS IN BIOINFORMATICS

Epidemiology and Genetics of Sudden Cardiac Death

(2012) Rajat Deo et al.   CIRCULATION

Exome Analysis of a Family With Pleiotropic Congenital Heart Disease

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

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

(2012) Jolanda van Hengel et al.   EUROPEAN HEART JOURNAL

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

(2012) Paul A. van der Zwaag et al.   EUROPEAN JOURNAL OF HEART FAILURE

Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication

(2012) Marianne Benn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Hereditary cerebral small vessel diseases: A review

(2012) Antonio Federico et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Natural history of thoracic aortic aneurysms

(2012) Gregory A. Kuzmik et al.   JOURNAL OF VASCULAR SURGERY

Acute Aortic Syndromes and Thoracic Aortic Aneurysm

(2012) Vijay S. Ramanath et al.   MAYO CLINIC PROCEEDINGS

DNase I sensitivity QTLs are a major determinant of human expression variation

(2012) Jacob F. Degner et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

(2012) Catherine Boileau et al.   NATURE GENETICS

Truncations of Titin Causing Dilated Cardiomyopathy

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

Diagnostic Challenge in Desmin Cardiomyopathy With Transformation of Clinical Phenotypes

(2012) Alexandra Gudkova et al.   PEDIATRIC CARDIOLOGY

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Increase in sudden death from coronary artery disease in young adults

(2011) Dabit Arzamendi et al.   AMERICAN HEART JOURNAL

Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes

(2011) Matthew Taylor et al.   CIRCULATION

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

(2011) Ellen S. Regalado et al.   CIRCULATION RESEARCH

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update

(2011) A. Azaouagh et al.   Clinical Research in Cardiology

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

(2011) Giovanni Quarta et al.   EUROPEAN HEART JOURNAL

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

(2011) Jamie D. Kapplinger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Lessons on the pathogenesis of aneurysm from heritable conditions

(2011) Mark E. Lindsay et al.   NATURE

Common variation in GPC5 is associated with acquired nephrotic syndrome

(2011) Koji Okamoto et al.   NATURE GENETICS

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

(2011) Ingrid M B H van de Laar et al.   NATURE GENETICS

Genetic variants inMTNR1Baffecting insulin secretion

(2010) Karsten Müssig et al.   ANNALS OF MEDICINE

Controlling the Activity of the Tec Kinase Itk by Mutation of the Phenylalanine Gatekeeper Residue

(2010) Raji E. Joseph et al.   BIOCHEMISTRY

Association of Genome-Wide Variation With the Risk of Incident Heart Failure in Adults of European and African Ancestry

(2010) Nicholas L. Smith et al.   Circulation-Cardiovascular Genetics

The genetics of dilated cardiomyopathy

(2010) Lisa Dellefave et al.   CURRENT OPINION IN CARDIOLOGY

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

(2010) Veronique Fressart et al.   EUROPACE

Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all

(2010) Thomas E Callis et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Genetics and cardiac channelopathies

(2010) Oscar Campuzano et al.   GENETICS IN MEDICINE

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

(2010) Ellen Otten et al.   HEART RHYTHM

Divergent Molecular Effects of Desmin Mutations on Protein Assembly in Myofibrillar Myopathy

(2010) Johannes Levin et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

(2010) Tianhong Xu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2010) Kiran Musunuru et al.   NATURE

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

A map of open chromatin in human pancreatic islets

(2010) Kyle J Gaulton et al.   NATURE GENETICS

Sudden cardiac death: epidemiology and risk factors

(2010) A. Selcuk Adabag et al.   Nature Reviews Cardiology

The changing epidemiology of congenital heart disease

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

Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS

(2010) Dan L. Nicolae et al.   PLoS Genetics

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

(2010) Klaus Stark et al.   PLoS Genetics

Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension

(2010) Sandosh Padmanabhan et al.   PLoS Genetics

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Identification of Two Common Variants Contributing to Serum Apolipoprotein B Levels in Mexicans

(2009) Daphna Weissglas-Volkov et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Heart Disease and Stroke Statistics—2009 Update

(2009) et al.   CIRCULATION

Sudden Deaths in Young Competitive Athletes

(2009) Barry J. Maron et al.   CIRCULATION

Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2009) A. Dénise den Haan et al.   Circulation-Cardiovascular Genetics

Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy

(2009) Rita Wen Kaspar et al.   Circulation-Cardiovascular Genetics

A novel ACO–GA hybrid algorithm for feature selection in protein function prediction

(2009) Shahla Nemati et al.   EXPERT SYSTEMS WITH APPLICATIONS

Mutation ofACTA2gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD)

(2009) Hiroko Morisaki et al.   HUMAN MUTATION

Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

(2009) Ray E. Hershberger et al.   JOURNAL OF CARDIAC FAILURE

Gender Differences Relating to Metabolic Syndrome and Proinflammation in Finnish Subjects with Elevated Blood Pressure

(2009) Tiina Ahonen et al.   MEDIATORS OF INFLAMMATION

The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer

(2009) Mark M Pomerantz et al.   NATURE GENETICS

Mapping complex disease traits with global gene expression

(2009) William Cookson et al.   NATURE REVIEWS 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

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations

(2008) Rune Frank-Hansen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

(2008) J P Kaski et al.   HEART

Unregulated smooth-muscle myosin in human intestinal neoplasia

(2008) P. Alhopuro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Glypicans

(2008) Jorge Filmus et al.   GENOME BIOLOGY