Associated Papers
Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.
Fan X et al.
Stem Cell Reviews and Reports, 2023
Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.
Chua CJ et al.
Genes, 2023
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani K et al.
European Journal of Human Genetics : Ejhg, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
Vermeer MCSC et al.
International Journal of Molecular Sciences, 2022
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic Medicine, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.
van Rooij J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.
Stevens TL et al.
Journal of Cardiovascular Development and Disease, 2020
G790del mutation in DSC2 alone is insufficient to develop the pathogenesis of ARVC in a mouse model.
Hamada Y et al.
Biochemistry and Biophysics Reports, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Animal models of arrhythmogenic right ventricular cardiomyopathy: what have we learned and where do we go? Insight for therapeutics.
Padrón-Barthe L et al.
Basic Research in Cardiology, 2017
Whole-genome sequencing of the world's oldest people.
Gierman HJ et al.
Plos One, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
Baskin B et al.
Human Genetics, 2013
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
De Bortoli M et al.
European Journal of Human Genetics : Ejhg, 2010
Skin and heart: une liaison dangereuse.
Bolling MC et al.
Experimental Dermatology, 2009
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser A et al.
American Journal of Human Genetics, 2006