Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years
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Title
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years
Authors
Keywords
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Journal
Molecular Diagnosis & Therapy
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2021-05-06
DOI
10.1007/s40291-021-00530-w
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Note: Only part of the references are listed.- Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
- (2021) Julie Hathaway et al. BMC Cardiovascular Disorders
- An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
- (2020) Arnon Adler et al. CIRCULATION
- A novel variant of RyR2 gene in a family misdiagnosed as congenital long QT syndrome: The importance of genetic testing
- (2020) Konstantinos P. Letsas et al. JOURNAL OF ELECTROCARDIOLOGY
- High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1
- (2020) Krystian A. Kozek et al. HEART RHYTHM
- Left Ventricular Noncompaction Syndrome: Genetic Insights and Therapeutic Perspectives
- (2020) Josef Finsterer et al. Current Cardiology Reports
- Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants
- (2020) Anthony M. Pettinato et al. CIRCULATION
- Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20
- (2020) Anna Gaertner et al. HUMAN MUTATION
- Epidemiology of the inherited cardiomyopathies
- (2020) William J. McKenna et al. Nature Reviews Cardiology
- Clinical Utility of a Phenotype-Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing
- (2020) Connor L. Mattivi et al. Circulation-Genomic and Precision Medicine
- Genetic interpretation and clinical translation of minor genes related to Brugada syndrome
- (2019) Oscar Campuzano et al. HUMAN MUTATION
- High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia
- (2019) Alexis Hermida et al. EUROPEAN JOURNAL OF HEART FAILURE
- Titin-truncating Variants Are Associated with Heart Failure Events in Patients with Left Ventricular Noncompaction Cardiomyopathy
- (2019) Shijie Li et al. CLINICAL CARDIOLOGY
- Molecular and genetic insights into progressive cardiac conduction disease
- (2019) Babken Asatryan et al. EUROPACE
- Molecular mechanisms of arrhythmogenic cardiomyopathy
- (2019) Karyn M. Austin et al. Nature Reviews Cardiology
- Sudden cardiac death in long QT syndrome (LQTS), Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT)
- (2019) Mohita Singh et al. PROGRESS IN CARDIOVASCULAR DISEASES
- FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations
- (2019) Flavie Ader et al. CLINICAL GENETICS
- Inherited Cardiac Arrhythmias and Channelopathies
- (2019) Jessica Kline et al. MEDICAL CLINICS OF NORTH AMERICA
- Cronos Titin Is Expressed in Human Cardiomyocytes and Necessary for Normal Sarcomere Function
- (2019) Rebecca J. Zaunbrecher et al. CIRCULATION
- Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy
- (2019) Alexandre Janin et al. HUMAN MUTATION
- Genetic cardiomyopathies
- (2018) Jane E. Wilcox et al. CURRENT OPINION IN CARDIOLOGY
- Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice
- (2018) Jesus Mates et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy
- (2018) Alexandre Janin et al. GENE
- Hypertrophic cardiomyopathy mutation R58Q in the myosin regulatory light chain perturbs thick filament-based regulation in cardiac muscle
- (2018) Thomas Kampourakis et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy
- (2018) Jeffrey Schubert et al. HUMAN MUTATION
- Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity
- (2018) Pascale Richard et al. CLINICAL GENETICS
- Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience
- (2018) Dorota Rowczenio et al. HUMAN MUTATION
- Role of titin in cardiomyopathy: from DNA variants to patient stratification
- (2017) James S. Ware et al. Nature Reviews Cardiology
- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
- (2016) Laura M. Amendola et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death
- (2016) Valérie Chanavat et al. CLINICA CHIMICA ACTA
- HomozygousPKP2deletion associated with neonatal left ventricle noncompaction
- (2016) F. Ramond et al. CLINICAL GENETICS
- Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy
- (2016) Andreas Brodehl et al. HUMAN MUTATION
- Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome
- (2016) Jia Zhang et al. Molecular Medicine Reports
- Functional Characterization of Putative Novel Splicing Mutations in the Cardiomyopathy-Causing Genes
- (2015) Gilles Millat et al. DNA AND CELL BIOLOGY
- HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy
- (2015) Gilles Millat et al. European Journal of Medical 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
- New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy
- (2015) Christopher Semsarian et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Incidence of sudden cardiac death in Germany: results from an emergency medical service registry in Lower Saxony
- (2014) E. Martens et al. EUROPACE
- Atlas of the clinical genetics of human dilated cardiomyopathy
- (2014) Jan Haas et al. EUROPEAN HEART JOURNAL
- HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy
- (2014) Annalisa Milano et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Dilated cardiomyopathy: the complexity of a diverse genetic architecture
- (2013) Ray E. Hershberger et al. Nature Reviews Cardiology
- Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy
- (2012) V. Chanavat et al. European Journal of Medical Genetics
- Inherited Cardiomyopathies
- (2012) Polakit Teekakirikul et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- 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
- Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed Modification of the Task Force Criteria
- (2010) F. I. Marcus et al. EUROPEAN HEART JOURNAL
- Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test
- (2009) Jamie D. Kapplinger et al. HEART RHYTHM
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