Additional file 1 of DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects

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Authors: Gregor Dombrowsky, Liselot van der Laan, Ananília Silva, Jeroen Breckpot, Enrique Audain, Anna Wilsdon, Michael A. Levy, Niels Vos, M. Mannens, Jiao Wang, Anjali Jain, Robert Lesurf
+23 more David Scott Winlaw, Connie R. Bezzina, Mary Ann Thomas, Almuth Caliebe, Sabine Klaassen, Felix F. Berger, Sven Dittrich, B Stiller, Hashim Abdul‐Khaliq, Ingo Dähnert, Frances Bu’Lock, Siobhan Loughna, J. David Brook, Seema Mital, Robert B. Russell, Thomas Pickardt, Ulrike Bauer, Hans-Heiner Kramer, Anselm Sebastian Uebing, Peter Henneman, Bekim Sadikovic, Alex V. Postma, Marc-Phillip Hitz
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Abstract

Additional file 1: Supplementary figures S1 to S9 including cross validation plots, annotations of differentially methylated probes, full STRING interaction network for genes overlapping the presented signature, a NOTCH1-protein plot representing the DNAm prediction scores for tested samples and figures depicting the results of in-silico modelling for cysteine-altering variants.

Publication details

Journal / source
Figshare
Publication date
1 January 2026
Document type
Dataset