Associated Papers
Functional interrogation of contextually correct MYH7 variants using CRaTER-flox gene editing and contractility profiling.
Loiben AM et al.
The Journal of Clinical Investigation, 2026
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Genetics of Sudden Cardiac Arrest: Overview of Genetic Risk Factors and Aetiologies.
Li Tan SM et al.
Arrhythmia & Electrophysiology Review, 2025
Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.
Cianci V et al.
International Journal of Molecular Sciences, 2024
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
Monda E et al.
International Journal of Molecular Sciences, 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
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
Rare Genetic Variants Associated With Myocardial Fibrosis: Multi-Ethnic Study of Atherosclerosis.
Shabani M et al.
Frontiers in Cardiovascular Medicine, 2022
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
Tekendo-Ngongang C et al.
Genes, 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
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
High-throughput genetic characterization of a cohort of Brugada syndrome patients.
Di Resta C et al.
Human Molecular Genetics, 2015
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Tajsharghi H et al.
European Journal of Human Genetics : Ejhg, 2014
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.
Larsen MK et al.
Forensic Science International, 2012