Associated Papers
Autosomal-Recessive LMNA Dilated Cardiomyopathy.
Sterner RM et al.
Jacc. Case Reports, 2026
Cardiovascular prognostic impact of missense vs nonmissense lamin A/C variants: A systematic review and meta-analysis.
Guaricci AI et al.
Heart Rhythm, 2026
Cardiac fibroblasts counterbalance cardiomyocytes in LMNA cardiomyopathy pathogenesis.
Sikder K et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.
Wong LY et al.
Scientific Reports, 2025
Domain-specific association of single-nucleotide variants in the LMNA gene with the phenotypic expression of dilated cardiomyopathy.
Zhuo W et al.
International Journal of Cardiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.
Baskar D et al.
Journal of Neuromuscular Diseases, 2024
Tracking updates in clinical databases increases efficiency for variant reanalysis.
Li L et al.
Genetics in Medicine Open, 2024
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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
Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.
Gregory EF et al.
Plos Genetics, 2023
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT et al.
European Journal of Preventive Cardiology, 2022
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
Lota AS et al.
Circulation, 2022
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
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Patel AP et al.
Jama Cardiology, 2022
Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.
Castrini AI et al.
Journal of the American Heart Association, 2022
Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.
van Wijk SW et al.
Cells, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants.
Ferradini V et al.
Journal of Clinical Medicine, 2021
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 2021
A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.
Tao J et al.
Journal of Clinical Laboratory Analysis, 2021
P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.
van der Klooster ZJ et al.
Journal of Cellular and Molecular Medicine, 2021
Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease.
Gao Y et al.
Medicine, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Exercise is Associated With Impaired Left Ventricular Systolic Function in Patients With Lamin A/C Genotype.
Skjølsvik ET et al.
Journal of the American Heart Association, 2020
Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.
Kwapich M et al.
Diabetes & Metabolism, 2019
Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents.
DeWitt ES et al.
Journal of the American College of Cardiology, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.
van Tienen FHJ et al.
European Journal of Human Genetics : Ejhg, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Lamin missense mutations-the spectrum of phenotype variability is increasing.
Captur G et al.
European Journal of Heart Failure, 2018
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Cardiomyopathies and Related Changes in Contractility of Human Heart Muscle.
Vikhorev PG et al.
International Journal of Molecular Sciences, 2018
Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.
Hasselberg NE et al.
European Heart Journal, 2018
Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy.
Zahr HC et al.
Frontiers in Genetics, 2018
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Hoorntje ET et al.
Circulation. Cardiovascular Genetics, 2017
LMNA Mutations Associated With Mild and Late-Onset Phenotype: The Case of the Dutch Founder Mutation p.(Arg331Gln).
Arbustini E et al.
Circulation. Cardiovascular Genetics, 2017
Genotype-specific pathogenic effects in human dilated cardiomyopathy.
Bollen IAE et al.
The Journal of Physiology, 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
Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.
Madej-Pilarczyk A et al.
Journal of Applied Genetics, 2017
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
van Spaendonck-Zwarts KY et al.
European Journal of Heart Failure, 2013
Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation.
Gangemi F et al.
Journal of Structural Biology, 2013