Associated Papers
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease.
Verlee M et al.
European Journal of Human Genetics : Ejhg, 2025
39870876 (PubMed )
Supplement: 41431_2025_1788_MOESM2_ESM.xlsx › S2
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.
Tabib A et al.
European Journal of Medical Research, 2022
Genetic insights into non-syndromic Tetralogy of Fallot.
Althali NJ et al.
Frontiers in Physiology, 2022
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Reuter MS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ et al.
Circulation Research, 2019
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC et al.
Nature Genetics, 2017
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