Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.
Wang J et al.
Precision Clinical Medicine, 2025
40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 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
37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2
Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children.
Mehaney DA et al.
Cardiology in the Young, 2022
Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study.
Lu F et al.
Orphanet Journal of Rare Diseases, 2022
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S7
Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.
Cheng C et al.
Gigascience, 2016
26759717 (PubMed )
Supplement: 13742_2015_107_MOESM11_ESM.xlsx › SX104.TC.snv.indel
Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.
Zhang L et al.
American Journal of Human Genetics, 2015
25839328 (PubMed )
Supplement: mmc4.xlsx › Table_S3._Mutation_cohort
Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy.
Broch K et al.
Open Heart, 0
Select a paper to view details