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
41501857 (PubMed )
Supplement: 13073_2025_1587_MOESM1_ESM.xlsx › Table_S3
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
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN et al.
Human Mutation, 2018
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Southgate L et al.
Circulation. Cardiovascular Genetics, 2015
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