(Q48105793)

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Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.

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21 March 2020

Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants (English)

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21 March 2020

catecholaminergic polymorphic ventricular tachycardia

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Morten Salling Olesen

8

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21 March 2020

Christian Paludan-Müller

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21 March 2020

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21 March 2020

Jorgen K. Kanters

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21 March 2020

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J Ghouse

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21 March 2020

C Herfelt

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21 March 2020

S Haunsø

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21 March 2020

J H Svendsen

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21 March 2020

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26 September 2016

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21 March 2020

Clinical Genetics

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21 March 2020

91

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21 March 2020

1

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21 March 2020

63-72

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21 March 2020

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Diagnosis of unexplained cardiac arrest: role of adrenaline and procainamide infusion

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

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).

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Action and the actionability in exome variation

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Impact of genetics on the clinical management of channelopathies

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

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 [...]

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Atrial fibrillation is associated with increased spontaneous calcium release from the sarcoplasmic reticulum in human atrial myocytes

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

beta-adrenergic receptor blockers restore cardiac calcium release channel (ryanodine receptor) structure and function in heart failure

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Phosphodiesterase 4D deficiency in the ryanodine-receptor complex promotes heart failure and arrhythmias

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Phospholamban knockout breaks arrhythmogenic Ca²⁺ waves and suppresses catecholaminergic polymorphic ventricular tachycardia in mice

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Modulation of human ether a gogo related channels by CASQ2 contributes to etiology of catecholaminergic polymorphic ventricular tachycardia (CPVT)

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Pathogenesis of unexplained drowning: new insights from a molecular autopsy

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Catecholaminergic polymorphic ventricular tachycardia in a patient with recurrent exertional syncope

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12847

21 January 2018

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10.1111/CGE.12847

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27538377%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27538377%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

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