Associated Papers
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.
Kubanek M et al.
Esc Heart Failure, 2024
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.
Biesecker LG et al.
American Journal of Human Genetics, 2024
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
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 Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.
Sun Y et al.
Frontiers in Cardiovascular Medicine, 2021
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Sapp JC et al.
American Journal of Human Genetics, 2018
A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.
Parker F et al.
Journal of Molecular Biology, 2018
Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.
Hazebroek MR et al.
Circulation. Heart Failure, 2018
Actionable secondary findings from whole-genome sequencing of 954 East Asians.
Tang CS et al.
Human Genetics, 2018
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.
Viswanathan MC et al.
Human Molecular Genetics, 2017
Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.
Forleo C et al.
Plos One, 2017
Structural implications of β-cardiac myosin heavy chain mutations in human disease.
Colegrave M et al.
Anatomical Record (hoboken, N.j. : 2007), 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ et al.
Human Mutation, 2014
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
Merlo M et al.
Clinical and Translational Science, 2013
Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes.
Wolny M et al.
The Journal of Biological Chemistry, 2013
A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.
Murgiano L et al.
Bmc Genetics, 2012
Effects of pathogenic proline mutations on myosin assembly.
Buvoli M et al.
Journal of Molecular Biology, 2012
Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.
Armel TZ et al.
Journal of Molecular and Cellular Cardiology, 2010
Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy.
Jerosch-Herold M et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2008
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
Hershberger RE et al.
Clinical and Translational Science, 2008
Sarcomeric protein mutations in dilated cardiomyopathy.
Chang AN et al.
Heart Failure Reviews, 2005