Associated Papers
Undetected Neuromuscular Disease in Patients after Heart Transplantation.
Bekele BM et al.
International Journal of Molecular Sciences, 2024
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Cardiomyopathy and Preeclampsia.
Gammill HS et al.
Circulation, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue.
Crocini C et al.
Basic Research in Cardiology, 2013
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Norton N et al.
Circulation. Cardiovascular Genetics, 2012
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy.
Duboscq-Bidot L et al.
European Heart Journal, 2009
Intracellular ANKRD1 protein levels are regulated by 26S proteasome-mediated degradation.
Badi I et al.
Febs Letters, 2009
Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy.
Arimura T et al.
Journal of the American College of Cardiology, 2009
Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return.
Cinquetti R et al.
Human Mutation, 2008