标题
An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy
作者
关键词
-
出版物
CIRCULATION
Volume -, Issue -, Pages -
出版商
Ovid Technologies (Wolters Kluwer Health)
发表日期
2021-05-05
DOI
10.1161/circulationaha.120.053033
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。- Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
- (2021) Rafik Tadros et al. NATURE GENETICS
- An International Evidence Based Reappraisal of Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) using the ClinGen Framework
- (2021) Cynthia A. James et al. Circulation-Genomic and Precision Medicine
- Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
- (2020) Francesco Mazzarotto et al. CIRCULATION
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Variant Interpretation for Dilated Cardiomyopathy
- (2020) Ana Morales et al. Circulation-Genomic and Precision Medicine
- Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association
- (2020) Kiran Musunuru et al. Circulation-Genomic and Precision Medicine
- Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome
- (2018) S. Mohsen Hosseini et al. CIRCULATION
- Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
- (2018) Melissa A Kelly et al. GENETICS IN MEDICINE
- Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
- (2018) Marjolijn Renard et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- The progression of the ClinGen gene clinical validity classification over time
- (2018) Jennifer L. McGlaughon et al. HUMAN MUTATION
- Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy
- (2017) Daniel D. Kinnamon et al. Circulation-Cardiovascular Genetics
- Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
- (2016) Roddy Walsh et al. GENETICS IN MEDICINE
- 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
- Titin-truncating variants affect heart function in disease cohorts and the general population
- (2016) Sebastian Schafer et al. NATURE GENETICS
- Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies
- (2016) James S. Ware et al. NEW ENGLAND JOURNAL OF MEDICINE
- 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
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy
- (2015) J. T. Hinson et al. SCIENCE
- 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
- A systematic review and meta-analysis of genotype–phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations
- (2013) Luís R Lopes et al. HEART
- Dilated cardiomyopathy: the complexity of a diverse genetic architecture
- (2013) Ray E. Hershberger et al. Nature Reviews Cardiology
- Truncations of Titin Causing Dilated Cardiomyopathy
- (2012) Daniel S. Herman et al. NEW ENGLAND JOURNAL OF MEDICINE
- The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
- (2012) Wendy S. Rubinstein et al. NUCLEIC ACIDS RESEARCH
- Ablation of the Cardiac-Specific Gene Leucine-Rich Repeat Containing 10 (Lrrc10) Results in Dilated Cardiomyopathy
- (2012) Matthew J. Brody et al. PLoS One
- Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy
- (2011) Marwan M. Refaat et al. HEART RHYTHM
- Rare Variant Mutations in Pregnancy-Associated or Peripartum Cardiomyopathy
- (2010) Ana Morales et al. CIRCULATION
- 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
- Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals
- (2010) Ray E Hershberger et al. GENETICS IN MEDICINE
- Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
- (2008) Sharie B. Parks et al. AMERICAN HEART JOURNAL
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk 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