Article
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.
Genome medicine - 7 Jan 2026
Dombrowsky Gregor, van der Laan Liselot, Silva Ananília, Breckpot Jeroen, Audain Enrique, Wilsdon Anna, Levy Michael A, Vos Niels, Mannens Marcel, Wang Jiao, Jain Anjali, Lesurf Robert, Winlaw David, Bezzina Connie R, Thomas Mary Ann, Caliebe Almuth, Klaassen Sabine, Berger Felix, Dittrich Sven, Stiller Brigitte, Abdul-Khaliq Hashim, Dähnert Ingo, Bu'Lock Frances, Loughna Siobhan, Brook J David, Mital Seema, Russell Robert B, Pickardt Thomas, Bauer Ulrike, Kramer Hans-Heiner, Uebing Anselm, Henneman Peter, Sadikovic Bekim, Postma Alex, Hitz Marc-Phillip
Abstract excerpt
BACKGROUND: Congenital heart defects (CHDs) are the most common malformation amongst newborns, with a prevalence of approximately 0.8-2%. The etiology of CHD is highly complex and can be linked to genetic and nongenetic factors. The molecular basis remains partially unclear, and only a minority of patients can be assigned to clear monogenic causes. METHODS: Here we analyzed a cohort of 3907 CHD cases and...
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