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
Human Genetics of Atrioventricular Septal Defect.
Maslen CL
Advances in Experimental Medicine and Biology, 2024
Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease.
Jaouadi H et al.
Journal of Human Genetics, 2022
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
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Parker LE et al.
Journal of the American Heart Association, 2021
From embryogenesis to adulthood: Critical role for GATA factors in heart development and function.
Whitcomb J et al.
Iubmb Life, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs
Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.
Bonachea EM et al.
Bmc Medical Genomics, 2014
Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.
Bonachea EM et al.
Pediatric Research, 2014
GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve.
Shi LM et al.
International Journal of Molecular Medicine, 2014
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
Ackerman C et al.
American Journal of Human Genetics, 2012
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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