Condition: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
rs1057517903 in
DSP gene and
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
PMID 20716751 2010 Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
PMID 25227139 2015 Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
PMID 25820315 2015 Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
PMID 27831900 2016 Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
PMID 21859740 2011 Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
PMID 23671136 2013 Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
PMID 28527814 2017 Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
PMID 28442525 2017 Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.
PMID 11063735 2000 Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
PMID 26735901 2016 Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
PMID 16061754 2005 Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.
PMID 12373648 2002 Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.
PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 15941723 2005 Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.
PMID 23810894 2013 Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
PMID 16917092 2006 Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
PMID 10594734 1999 Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.
PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
PMID 24070718 2013 Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
PMID 25616645 2015 Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
PMID 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.