Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance-Reference-Cited by-同舟云学术

Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance

Published:2019-05 Issue:5 Volume:12 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Giudicessi John R.¹,Lieve Krystien V.V.²,Rohatgi Ram K.³,Koca Faruk²,Tester David J.⁴,van der Werf Christian²,Martijn Bos J.⁴,Wilde Arthur A.M.²,Ackerman Michael J.⁴

Affiliation:

1. Department of Cardiovascular Medicine (Clinician-Investigator Training Program) (J.R.G.)

2. Amsterdam UMC, University of Amsterdam, Heart Center and Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (K.V.V.L., F.K., C.v.d.W., A.A.M.W.).

3. Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology) (R.K.R.)

4. Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (D.J.T., J.M.B., M.J.A.).

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference38 articles.

1. Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

2. Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum

3. Catecholaminergic Polymorphic Ventricular Tachycardia in Children

4. Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia

Cited by 44 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome;JAMA;2024-07-16

2. Continuous variant reclassification: An effective tool in the ongoing quest to escape genetic purgatory;Heart Rhythm;2024-06

3. Prognosis and clinical management of asymptomatic family members with RYR2-mediated catecholaminergic polymorphic ventricular tachycardia: a review;Cardiology in the Young;2024-04-24

4. Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy;International Journal of Molecular Sciences;2024-03-29

5. Catecholaminergic Polymorphic Ventricular Tachycardia: Clinical Characteristics, Diagnostic Evaluation and Therapeutic Strategies;Journal of Clinical Medicine;2024-03-20