Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation

scientific article published on 15 April 2019

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/MGG3.593
P932PMC publication ID6565596
P698PubMed publication ID30985088

P50authorAndrew P. LandstromQ37836642
P2093author name stringDaniel J Penny
Yaping Yang
Jill A Rosenfeld
Hugh D Allen
Jeffrey J Kim
Hari Tunuguntla
Andrew T Headrick
P2860cites workDefining desmosomal plakophilin-3 interactionsQ24675159
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathyQ28304094
Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasiaQ28304979
The function of plakophilin 1 in desmosome assembly and actin filament organizationQ30321137
Different roles of cadherins in the assembly and structural integrity of the desmosome complexQ30578092
Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk.Q33167985
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force CriteriaQ33764619
Immunohistochemical localization of plakophilins (PKP1, PKP2, PKP3, and p0071) in primary oropharyngeal tumors: correlation with clinical parametersQ34209123
Clinical whole-exome sequencing for the diagnosis of mendelian disordersQ34413680
Molecular findings among patients referred for clinical whole-exome sequencingQ35078373
Characterization of full-length and proteolytic cleavage fragments of desmoglein-2 in native human colon and colonic epithelial cell linesQ35534067
Cell-cell connection to cardiac diseaseQ36697431
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).Q37910512
Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physiciansQ38090311
Evolving form to fit function: cardiomyocyte intercalated disc and transverse-tubule membranesQ38161133
Etiology of Sudden Death in Sports: Insights From a United Kingdom Regional Registry.Q40766721
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingQ50202075
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.Q50260153
Outcome of cardioverter-defibrillator implant in patients with arrhythmogenic right ventricular cardiomyopathy.Q50993655
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.Q51061793
Familial Evaluation in Arrhythmogenic Right Ventricular CardiomyopathyQ57901803
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.Q64934138
Arrhythmogenic right ventricular cardiomyopathyQ77335464
Clinical course of arrhythmogenic right ventricular cardiomyopathy in the era of implantable cardioverter-defibrillators and radiofrequency catheter ablationQ82848138
Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noiseQ87948377
P433issue6
P304page(s)e593
P577publication date2019-04-15
P1433published inMolecular genetics & genomic medicineQ27724709
P1476titleIncidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation
P478volume7