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
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
Undetected Neuromuscular Disease in Patients after Heart Transplantation.
Bekele BM et al.
International Journal of Molecular Sciences, 2024
39063061 (PubMed )
Supplement: ijms-25-07819-s001.zip › ijms-3073856-supplementary.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
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST6
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.
Surendran P et al.
Nature Genetics, 2020
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Brauner R et al.
Plos One, 2020
Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.
Gudmundsson J et al.
Nature Communications, 2018
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA1_Deleterious_Hits
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.
Hempel M et al.
Human Genetics, 2017
GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.
Kassab K et al.
Molecular Genetics & Genomic Medicine, 2016
GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve.
Shi LM et al.
International Journal of Molecular Medicine, 2014
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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