Associated Papers
Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.
Bauer R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Correction: "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".
Martin S et al.
Bmc Cardiovascular Disorders, 2024
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
"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".
Martin S et al.
Bmc Cardiovascular Disorders, 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
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
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
Lota AS et al.
Circulation, 2022
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente GD et al.
Frontiers in Cardiovascular Medicine, 2022
Preclinical Advances of Therapies for Laminopathies.
Benarroch L et al.
Journal of Clinical Medicine, 2021
Timing of pacemaker and ICD implantation in LMNA mutation carriers.
Ollila LH et al.
Open Heart, 2021
Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy.
Storey EC et al.
Neuromuscular Disorders : Nmd, 2020
Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy.
Mattioli E et al.
Cells, 2018
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
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.
Robyns T et al.
European Journal of Human Genetics : Ejhg, 2017
Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress.
Angori S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2017
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0