Associated Papers
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
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
Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors.
Rudaka I et al.
Journal of Cardiovascular Development and Disease, 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
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
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 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
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 A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.
Hasselberg NE et al.
European Heart Journal, 2018
Using high-resolution variant frequencies to empower clinical genome interpretation.
Whiffin N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
Zaragoza MV et al.
Plos One, 2016
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
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
Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.
Stallmeyer B et al.
Genetic Testing and Molecular Biomarkers, 2012
Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement.
Meune C et al.
Neuromuscular Disorders : Nmd, 2012
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Rankin J et al.
American Journal of Medical Genetics. Part A, 2008
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Muntoni F et al.
Brain : a Journal of Neurology, 2006
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0