Associated Papers
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.
Chang Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026
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
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins
Lamin missense mutations-the spectrum of phenotype variability is increasing.
Captur G et al.
European Journal of Heart Failure, 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
28790152 (PubMed )
Supplement: circgenetics_circcvg-2016-001631_supp1.pdf
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy.
Narula N et al.
Journal of the American College of Cardiology, 2012
Long-term outcome and risk stratification in dilated cardiolaminopathies.
Pasotti M et al.
Journal of the American College of Cardiology, 2008
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0
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