Associated Papers
Genetic evaluation of early-onset atrial fibrillation: impact on patient management.
Laws JL et al.
European Heart Journal, 2025
Somatic and germinal mosaicism of a canonical splicing variant causing limb-girdle muscular dystrophy type 1B.
Wang G et al.
Journal of Applied Genetics, 2025
The Therapeutic Impact of Genetic Evaluation in an Atrial Fibrillation Precision Medicine Clinic.
Laws JL et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.
Kim Y et al.
Circulation. Genomic and Precision Medicine, 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
Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.
Castrini AI et al.
Journal of the American Heart Association, 2022
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.
Bernasconi P et al.
Nucleus (austin, Tex.), 2018
Clinical Yield of Familial Screening After Sudden Death in Young Subjects: The French Experience.
Quenin P et al.
Circulation. Arrhythmia and Electrophysiology, 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
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.
Di Resta C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S et al.
Neurology, 2007
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0