Associated Papers
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.
Dombrowsky G et al.
Genome Medicine, 2026
Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.
Herms A et al.
Nature Genetics, 2024
39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM6_ESM.xlsx › Fig_1a
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Debiec RM et al.
Heart (british Cardiac Society), 2022
35288444 (PubMed )
Supplement: heartjnl-2021-320428supp001.pdf
Genetic insights into non-syndromic Tetralogy of Fallot.
Althali NJ et al.
Frontiers in Physiology, 2022
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Manshaei R et al.
Frontiers in Genetics, 2020
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ et al.
Circulation Research, 2019
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