Associated Papers
A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.
Forbes CA et al.
Human Genomics, 2026
In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
Abbasi S et al.
Journal of Cardiovascular and Thoracic Research, 2021
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Qiao L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32719394 (PubMed )
Supplement: NIHMS1619686-supplement-Supplementary_tables.xlsx › Table_S3
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_
GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.
Shimizu D et al.
Clinical Case Reports, 2018
Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.
Yu L et al.
Human Genetics, 2013
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
Peng T et al.
Genetica, 2010
[Novel GATA4 mutations identified in patients with congenital heart disease].
Wang J et al.
Zhonghua Yi Xue Za Zhi, 2010
Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD).
Reamon-Buettner SM et al.
Bmc Medical Genetics, 2007
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