Analysis of Premature Termination Codons Predicted to Escape Nonsense Mediated Decay Identifies Novel Genes, Pathways, and Networks Contributing to an Oligogenic Etiology of Congenital Heart Disease
Jonathan Klonowski, Madhavi K. Ganapathiraju, Archana Rai, Benjamin J. Glennon, Zeynep Coban‐Akdemir, Dennis Kostka, Cecilia W. Y. Lo
The paper analyzes PTCs in CHD patients to identify genes and pathways contributing to an oligogenic etiology of congenital heart disease.
medRxiv · Aug 4, 2025 · PreprintGenetic & Genomic Medicine