Associated Papers
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
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D et al.
Science (new York, N.y.), 2022
35926050 (PubMed )
Supplement: NIHMS1835045-supplement-Supp__table_1.xlsx › disease_samples
Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes.
Sielemann K et al.
Genes, 2020
33260757 (PubMed )
Supplement: genes-11-01430-s001.zip › genes-997621-SI › File_S1.pdf
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
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis.
Mavrogiannis LA et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SLC34A2. Disease: pulmonary alveolar microlithiasis.
Ellison J
Human Genetics, 2009
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0
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