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Title
Prevalence of Titin Truncating Variants in General Population
Authors
Keywords
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Journal
PLoS One
Volume 10, Issue 12, Pages e0145284
Publisher
Public Library of Science (PLoS)
Online
2015-12-24
DOI
10.1371/journal.pone.0145284
References
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Related references
Note: Only part of the references are listed.- Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
- (2015) Angharad M. Roberts et al. Science Translational Medicine
- Atypical phenotypes in titinopathies explained by second titin mutations
- (2014) Anni Evilä et al. ANNALS OF NEUROLOGY
- Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy
- (2014) K. Y. van Spaendonck-Zwarts 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
- Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory
- (2014) Samuel P. Strom et al. GENETICS IN MEDICINE
- Clinical Interpretation and Implications of Whole-Genome Sequencing
- (2014) Frederick E. Dewey et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Alterations in cardiac DNA methylation in human dilated cardiomyopathy
- (2013) Jan Haas et al. EMBO Molecular Medicine
- Recessive TTN truncating mutations define novel forms of core myopathy with heart disease
- (2013) C. Chauveau et al. HUMAN MOLECULAR GENETICS
- Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
- (2013) O. Ceyhan-Birsoy et al. NEUROLOGY
- Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
- (2013) Jason O'Rawe et al. Genome Medicine
- A Novel Titin Mutation in Adult-Onset Familial Dilated Cardiomyopathy
- (2012) Guy Yoskovitz et al. AMERICAN JOURNAL OF CARDIOLOGY
- Cardiac Structural and Sarcomere Genes Associated With Cardiomyopathy Exhibit Marked Intolerance of Genetic Variation
- (2012) Stephen Pan et al. Circulation-Cardiovascular Genetics
- Population-Based Variation in Cardiomyopathy Genes
- (2012) Jessica R. Golbus et al. Circulation-Cardiovascular Genetics
- Truncations of Titin Causing Dilated Cardiomyopathy
- (2012) Daniel S. Herman et al. NEW ENGLAND JOURNAL OF MEDICINE
- Distinct Epigenomic Features in End-Stage Failing Human Hearts
- (2011) Mehregan Movassagh et al. CIRCULATION
- Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes
- (2011) Matthew Taylor et al. CIRCULATION
- Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene
- (2010) Kathryn M. Meurs et al. ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)
- (2008) Peter Hackman et al. NEUROMUSCULAR DISORDERS
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