Associated Papers
Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.
Sticchi E et al.
Diagnostics (basel, Switzerland), 2025
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
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
Odelin G et al.
Nature Communications, 2023
36941270 (PubMed )
Supplement: 41467_2023_37110_MOESM1_ESM.pdf
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
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Somatic_TSG_allVariants_
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
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
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