Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Clinical Presentation, Diagnosis, and Genetic Insights of Miyoshi Myopathy: A Case Report and Literature Review.
Stolarski Ł et al.
Cureus, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies.
Rani DS et al.
Pharmacogenomics and Personalized Medicine, 2023
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 2022
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Kurzlechner LM et al.
Journal of Personalized Medicine, 2022
Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to p.Arg302Gln mutation.
Rodríguez Ortuño J et al.
Medicina Clinica, 2022
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
Al-Shafai KN et al.
Molecular Genetics & 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
Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy.
Schuldt M et al.
Circulation. Heart Failure, 2021
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Cardiomyopathy and Preeclampsia.
Gammill HS et al.
Circulation, 2018
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.
Verhagen JMA et al.
European Journal of Human Genetics : Ejhg, 2018
Genetic Etiology for Alcohol-Induced Cardiac Toxicity.
Ware JS et al.
Journal of the American College of Cardiology, 2018
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
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I et al.
Plos One, 2017
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
Teirlinck CH et al.
Bmc Medical Genetics, 2012
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.
Wells QS et al.
Cardiogenetics, 2011
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.
Morales A et al.
Circulation, 2010
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.
Hershberger RE et al.
Circulation. Cardiovascular Genetics, 2010
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
Ehlermann P et al.
Bmc Medical Genetics, 2008
Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.
Zeller R et al.
Journal of Molecular Medicine (berlin, Germany), 2006
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
Millat G et al.
European Journal of Medical Genetics, 0