Associated Papers
Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.
Jiang N et al.
European Journal of Medical Genetics, 2024
Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy-a case report.
Ter Bekke RMA et al.
European Heart Journal. Case Reports, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.
Long PA et al.
Journal of Cardiovascular Development and Disease, 2017
Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.
Long PA et al.
Human Molecular Genetics, 2017
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