Associated Papers
Novel mutation associated with non-compaction ventricular myocardium: A case report.
Li Y et al.
Esc Heart Failure, 2025
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2025
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.
Hammer-Hansen S et al.
European Journal of Human Genetics : Ejhg, 2024
Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Miceikaite I et al.
Prenatal Diagnosis, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
van der Meulen MH et al.
Circulation. Genomic and Precision Medicine, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 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
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.
Marttila M et al.
Cold Spring Harbor Molecular Case Studies, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
Weterman MA et al.
Brain : a Journal of Neurology, 2013
In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.
Harris SP et al.
Circulation Research, 2011