Associated Papers
Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.
Bruenger CMH et al.
European Journal of Human Genetics : Ejhg, 2025
40646242 (PubMed )
Supplement: 41431_2025_1909_MOESM2_ESM.xlsx › ST2
Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects.
Zodanu GKE et al.
International Journal of Molecular Sciences, 2025
Identification of a novel GATA binding protein 5 variant (c.830C>T/p.P277L) damaging the nuclear translocation and causing tetralogy of Fallot.
Jin JY et al.
Qjm : Monthly Journal of the Association of Physicians, 2022
From embryogenesis to adulthood: Critical role for GATA factors in heart development and function.
Whitcomb J et al.
Iubmb Life, 2020
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.
Kammoun M et al.
Prenatal Diagnosis, 2018
GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.
Kassab K et al.
Molecular Genetics & Genomic Medicine, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659
GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve.
Shi LM et al.
International Journal of Molecular Medicine, 2014
Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease.
Padang R et al.
Journal of Molecular and Cellular Cardiology, 2012
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