Associated Papers
Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening.
Silajdzija E et al.
Journal of the American Heart Association, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Heterogeneous Dysregulation of Myosin Super-Relaxation and Energetics in Hypertrophic Cardiomyopathy.
Ochala J et al.
Circulation. Heart Failure, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
Silva SME et al.
Cardiovascular Diagnosis and Therapy, 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 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
Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents.
Wagener R et al.
Journal of Pediatric Hematology/oncology, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Sepp R et al.
Diagnostics (basel, Switzerland), 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
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS et al.
Journal of the American Heart Association, 2022
Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy.
Schuldt M et al.
Cells, 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature 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
Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.
Sitbon YH et al.
Journal of Muscle Research and Cell Motility, 2020
Respiratory syncytial virus-associated mortality in a healthy 3-year-old child: a case report.
Gavotto A et al.
Bmc Pediatrics, 2019
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.
Thauvin-Robinet C et al.
European Journal of Human Genetics : Ejhg, 2019
Protein Quality Control Activation and Microtubule Remodeling in Hypertrophic Cardiomyopathy.
Dorsch LM et al.
Cells, 2019
Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.
Yadav S et al.
Pflugers Archiv : European Journal of Physiology, 2019
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing.
Stępień-Wojno M et al.
Polish Archives of Internal Medicine, 2018
Using high-resolution variant frequencies to empower clinical genome interpretation.
Whiffin N 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
Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.
Yadav S et al.
Biophysical Reviews, 2017
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I et al.
Plos One, 2017
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Cecconi M et al.
International Journal of Molecular Medicine, 2016
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
Rubattu S et al.
International Journal of Molecular Sciences, 2016
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
Coppini R et al.
Journal of the American College of Cardiology, 2014
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR et al.
Journal of Medical Genetics, 2013
Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.
Burghardt TP et al.
Biochemistry, 2013
Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression.
Di Donna P et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2010