| scholarly article | Q13442814 |
| P50 | author | Arthur Wilde | Q88314138 |
| P2093 | author name string | David J Tester | |
| Michael J Ackerman | |||
| Thomas E Callis | |||
| Nicholas B Larson | |||
| Jamie D Kapplinger | |||
| Hennie Bikker | |||
| Krishna N Pundi | |||
| P2860 | cites work | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test | Q24607414 |
| Guidelines for the diagnosis and management of syncope (version 2009) | Q24622801 | ||
| Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
| Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia | Q28142708 | ||
| Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia | Q28201561 | ||
| Letting the genome out of the bottle--will we get our wish? | Q28264215 | ||
| The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading [...] | Q28265202 | ||
| Catecholaminergic polymorphic ventricular tachycardia | Q28287523 | ||
| ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Q29616235 | ||
| New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia | Q30666264 | ||
| Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia | Q33157356 | ||
| Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives | Q33161522 | ||
| Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry | Q33165339 | ||
| Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients | Q33173888 | ||
| 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 | Q34465792 | ||
| Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. | Q34514756 | ||
| Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies | Q36642953 | ||
| Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. | Q36847480 | ||
| Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel | Q36931645 | ||
| Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. | Q37465444 | ||
| 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). | Q37905310 | ||
| HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. | Q38134931 | ||
| Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue | Q38542943 | ||
| Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. | Q41543943 | ||
| Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome | Q42071091 | ||
| Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). | Q42128337 | ||
| Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome | Q55422968 | ||
| Stratified false discovery control for large-scale hypothesis testing with application to genome-wide association studies | Q57591588 | ||
| Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia | Q61632866 | ||
| Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia | Q62105551 | ||
| Catecholaminergic polymorphic ventricular tachycardia (CPVT) initially diagnosed as idiopathic ventricular fibrillation: the importance of thorough diagnostic work-up and follow-up | Q86129816 | ||
| Training in cardiovascular genetics | Q86835601 | ||
| P433 | issue | 2 | |
| P921 | main subject | ventricular tachycardia | Q56002 |
| catecholaminergic polymorphic ventricular tachycardia | Q1649897 | ||
| P304 | page(s) | e001424 | |
| P577 | publication date | 2018-02-01 | |
| P1476 | title | Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation | |
| P478 | volume | 11 |
| Q64076962 | Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2 |
| Q58601770 | Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry |
| Q64065574 | Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications |
| Q61807219 | Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy |
| Q56761537 | Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum |
| Q57172466 | [Genetic testing to prevent sudden cardiac death] |
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