Additional file 2 of DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects

Figshare 2026 Open access

Read full text
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
DOI: 10.6084/m9.figshare.31023343
Cited by: 0

Abstract

Additional file 2: Supplementary tables S1 to S8 containing domains and modification site annotations, GO-enrichment results, published NOTCH1-variants, details on the in-silico modelling, an overview of disulfide-bond residues in NOTCH1 as well as prediction scores and probe information for the NOTCH1-episignature.

Fields of Study & Subjects

Congenital heart defects research Genomics and Rare Diseases Cerebrovascular and genetic disorders

Publication details

Journal / source
Figshare
Publication date
7 January 2026