Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.
Jeong R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Comprehensive in silico analysis of single nucleotide polymorphism and molecular dynamics simulation of human GATA6 protein in ventricular septal defect.
Hidayat T et al.
Narra J, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H et al.
Journal of Human Genetics, 2024
Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.
Yue X et al.
Molecular Biotechnology, 2024
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes.
Williams SG et al.
Journal of Human Genetics, 2022
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Sharma A et al.
Elife, 2020
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.
Sanchez-Lechuga B et al.
Bmc Medical Genetics, 2020
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Škorić-Milosavljević D et al.
American Journal of Medical Genetics. Part A, 2019
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
De Franco E et al.
American Journal of Human Genetics, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.
Chao CS et al.
Plos One, 2015
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay.
Suzuki S et al.
American Journal of Medical Genetics. Part A, 2014
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
De Franco E et al.
Diabetes, 2013
GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Allen HL et al.
Nature Genetics, 2011
A Cardiocraniofacial Syndrome Associated With a Novel Missense Variant in GATA6: A Fetal Case Report.
Darouich S et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0