Associated Papers
Detection of Circulating mRNA Variants in Hepatocellular Carcinoma Patients Using Targeted RNAseq.
Zezulinski D et al.
Liver Cancer, 2025
40331063 (PubMed )
Supplement: Supplementary_material-Suppl.2-s2.xlsx › Supp_Table_8
Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.
Rahimzadeh M et al.
Heart Failure Reviews, 2024
Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
Jaouadi H et al.
Frontiers in Medicine, 2024
39554508 (PubMed )
Supplement: Table_2.XLSX › NEXN
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S2
Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus.
Peng Y et al.
Frontiers in Cardiovascular Medicine, 2022
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
33906374 (PubMed )
Supplement: JAH3-10-e017731-s001.xlsx › Supplemental_Table_S4a
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Sahlin E et al.
Plos One, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4
Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis.
Aherrahrou Z et al.
Basic Research in Cardiology, 2016
Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
Waldmüller S et al.
Molecular and Cellular Probes, 2015
A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.
Wilson KD et al.
Circulation Research, 2015
Atlas of the clinical genetics of human dilated cardiomyopathy.
Haas J et al.
European Heart Journal, 2015
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
Hassel D et al.
Nature Medicine, 2009
Select a paper to view details