Associated Papers
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Characterization of genomic variants associated with congenital heart disease in patients from southwestern Colombian.
Grueso Cerón AL et al.
Heliyon, 2024
Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.
Secolin R et al.
Frontiers in Genetics, 2021
In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
Abbasi S et al.
Journal of Cardiovascular and Thoracic Research, 2021
GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.
Kalayinia S et al.
Journal of Clinical Laboratory Analysis, 2019
Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot.
Dixit R et al.
Human Mutation, 2018
Variants in cardiac GATA genes associated with bicuspid aortic valve.
Alonso-Montes C et al.
European Journal of Clinical Investigation, 2018
Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.
Alcántara-Ortigoza MA et al.
Pediatric Cardiology, 2015
Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects.
Sabina S et al.
Journal of Molecular and Cellular Cardiology, 2013
Identification of functional mutations in GATA4 in patients with congenital heart disease.
Wang E et al.
Plos One, 2013
Novel GATA4 mutations in patients with congenital ventricular septal defects.
Yang YQ et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012
Involvement of the atrial natriuretic peptide transcription factor GATA4 in alcohol dependence, relapse risk and treatment response to acamprosate.
Kiefer F et al.
The Pharmacogenomics Journal, 2011
Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.
Esposito G et al.
American Journal of Medical Genetics. Part A, 2011
GATA4 mutations in 357 unrelated patients with congenital heart malformation.
Butler TL et al.
Genetic Testing and Molecular Biomarkers, 2010
GATA4 sequence variants in patients with congenital heart disease.
Tomita-Mitchell A et al.
Journal of Medical Genetics, 2007
Isolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect.
Lee SA et al.
Journal of Genetics, 2007
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
GATA4 mutations in 486 Chinese patients with congenital heart disease.
Zhang W et al.
European Journal of Medical Genetics, 0
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.
Salazar M et al.
European Journal of Medical Genetics, 0