Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies
出版年份 2017 全文链接
标题
Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies
作者
关键词
Cardiomyopathies, Human genetics, Mutation databases, Phenotypes, Genetic screens, Channelopathies, Genetics of disease, Mutation detection
出版物
PLoS One
Volume 12, Issue 7, Pages e0181842
出版商
Public Library of Science (PLoS)
发表日期
2017-07-28
DOI
10.1371/journal.pone.0181842
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Relevance of truncating titin mutations in dilated cardiomyopathy
- (2016) O. Akinrinade et al. CLINICAL GENETICS
- Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting
- (2016) Sofie Lindgren Christiansen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Genetic basis of dilated cardiomyopathy
- (2016) Alexandra Pérez-Serra et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Obscurin Variants in Patients With Left Ventricular Noncompaction
- (2016) Teisha J. Rowland et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Arrhythmogenic cardiomyopathy
- (2016) Kalliopi Pilichou et al. Orphanet Journal of Rare Diseases
- Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis
- (2015) B. Cicero Willis et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy – Three Decades of Progress –
- (2015) Hugh Calkins CIRCULATION JOURNAL
- Identification and Functional Characterization of a NovelCACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death
- (2015) Nicole J. Boczek et al. Circulation-Arrhythmia and Electrophysiology
- Traditional vs. genetic pathogenesis of arrhythmogenic right ventricular cardiomyopathy
- (2015) Dongdong Que et al. EUROPACE
- The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics
- (2015) J. Mogensen et al. EUROPEAN HEART JOURNAL
- 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death
- (2015) Silvia G. Priori et al. EUROPEAN HEART JOURNAL
- Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young
- (2015) M. Brion et al. Forensic Science International-Genetics
- 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
- Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death
- (2015) Oscar Campuzano et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Role of Titin Missense Variants in Dilated Cardiomyopathy
- (2015) R. L. Begay et al. Journal of the American Heart Association
- Application of Next Generation Sequencing for personalized medicine for sudden cardiac death
- (2015) Elena Morini et al. Frontiers in Genetics
- Clinical and Functional Characterization of a Novel Mutation in Lamin A/C Gene in a Multigenerational Family with Arrhythmogenic Cardiac Laminopathy
- (2015) Cinzia Forleo et al. PLoS One
- OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency
- (2015) Steven Marston et al. PLoS One
- Prevalence of Titin Truncating Variants in General Population
- (2015) Oyediran Akinrinade et al. PLoS One
- Significance of Sarcomere Gene Mutations Analysis in the End-Stage Phase of Hypertrophic Cardiomyopathy
- (2014) Elena Biagini et al. AMERICAN JOURNAL OF CARDIOLOGY
- Inherited Cardiomyopathies
- (2014) Jeffrey A. Towbin CIRCULATION JOURNAL
- AKAP9 Is a Genetic Modifier of Congenital Long-QT Syndrome Type 1
- (2014) C. P. de Villiers et al. Circulation-Cardiovascular Genetics
- Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy
- (2014) J. R. Golbus et al. Circulation-Cardiovascular Genetics
- A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy
- (2014) J. M. Lopez-Ayala et al. CLINICAL GENETICS
- 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
- (2014) EUROPEAN HEART JOURNAL
- Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
- (2014) Luis R Lopes et al. HEART
- Genetic Cardiomyopathies Causing Heart Failure
- (2013) Thomas J. Cahill et al. CIRCULATION RESEARCH
- Obscurins: Unassuming giants enter the spotlight
- (2013) Nicole A. Perry et al. IUBMB LIFE
- Genetics of sudden cardiac death caused by ventricular arrhythmias
- (2013) Roos F. Marsman et al. Nature Reviews Cardiology
- Inherited Cardiomyopathies
- (2012) Polakit Teekakirikul et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Hypertrophic cardiomyopathy
- (2012) Barry J Maron et al. LANCET
- Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy
- (2012) Iacopo Olivotto et al. MAYO CLINIC PROCEEDINGS
- Truncations of Titin Causing Dilated Cardiomyopathy
- (2012) Daniel S. Herman et al. NEW ENGLAND JOURNAL OF MEDICINE
- Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes
- (2011) Matthew Taylor et al. CIRCULATION
- HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
- (2011) M. J. Ackerman et al. EUROPACE
- Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy
- (2011) Giovanni Quarta et al. EUROPEAN HEART JOURNAL
- 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary
- (2011) Bernard J. Gersh et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- SCN5A Mutations Associate With Arrhythmic Dilated Cardiomyopathy and Commonly Localize to the Voltage-Sensing Mechanism
- (2011) William P. McNair et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects
- (2011) Marta Diegoli et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy
- (2011) Ray E. Hershberger et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
- (2011) Bernard J. Gersh et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Inherited Cardiomyopathies
- (2011) Hugh Watkins et al. NEW ENGLAND JOURNAL OF MEDICINE
- Arrhythmogenic Cardiomyopathy: Etiology, Diagnosis, and Treatment
- (2010) Srijita Sen-Chowdhry et al. Annual Review of Medicine
- Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
- (2010) Frank I. Marcus et al. CIRCULATION
- Mutational Heterogeneity, Modifier Genes, and Environmental Influences Contribute to Phenotypic Diversity of Arrhythmogenic Cardiomyopathy
- (2010) Srijita Sen-Chowdhry et al. Circulation-Cardiovascular Genetics
- Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy
- (2010) Perry Elliott et al. Circulation-Cardiovascular Genetics
- Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed Modification of the Task Force Criteria
- (2010) F. I. Marcus et al. EUROPEAN HEART JOURNAL
- Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks
- (2010) Ellen Otten et al. HEART RHYTHM
- De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy
- (2010) Baerbel Klauke et al. HUMAN MOLECULAR GENETICS
- Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations
- (2010) Francesca Girolami et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Kv4 Potassium Channels Form a Tripartite Complex With the Anchoring Protein SAP97 and CaMKII in Cardiac Myocytes
- (2009) Saïd El-Haou et al. CIRCULATION RESEARCH
- Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia
- (2009) Barbara Bauce et al. HEART RHYTHM
- Muscle Giants: Molecular Scaffolds in Sarcomerogenesis
- (2009) Aikaterini Kontrogianni-Konstantopoulos et al. PHYSIOLOGICAL REVIEWS
- Cardiac Myotonic Dystrophy Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy in a Young Sudden Cardiac Death Victim
- (2008) Alex Hoerby Christensen et al. Circulation-Arrhythmia and Electrophysiology
- Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3
- (2008) Angelika Kuhl et al. EUROPEAN JOURNAL OF HUMAN GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started