Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
41509423 (PubMed )
Supplement: media-2.xlsx › mRNA_expression
LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.
Wang Z et al.
Journal of Advanced Research, 2025
Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics.
Elliott P et al.
European Heart Journal, 2025
Cardiac splicing as a diagnostic and therapeutic target.
Gotthardt M et al.
Nature Reviews. Cardiology, 2023
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
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.
Gao S et al.
American Journal of Medical Genetics. Part A, 2022
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
A multiplex PCR strategy to screen for known mutations in families with sudden cardiac death burden.
Duong G et al.
Journal of Biological Methods, 2017
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0
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