Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
35747179 (PubMed )
Supplement: mmc1.pdf
Clinical presentation and natural history of Barth Syndrome: An overview.
Taylor C et al.
Journal of Inherited Metabolic Disease, 2022
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Tsang MHY et al.
Human Genomics, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S6
Genetic Basis of Severe Childhood-Onset Cardiomyopathies.
Vasilescu C et al.
Journal of the American College of Cardiology, 2018
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.
Seo SH et al.
Annals of Laboratory Medicine, 2018
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.
Hijikata A et al.
Meta Gene, 2015
NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.
Man E et al.
Bmj Case Reports, 2013
Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.
Bissler JJ et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2002
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
D'Adamo P et al.
American Journal of Human Genetics, 1997
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