Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements
Rebecca Andersen, Ibrahim F. Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L. Mena, Sami Samir Amr, Hila Romi, Margaret A. Kenna, Caroline D. Robson, Ellen Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A. Walsh, Cynthia Casson Morton
The paper identifies chromosomal structural rearrangements disrupting long non-coding RNAs (lncRNAs) in individuals with rare germline disorders, highlighting potential pathogenic roles of lncRNA disruptions.
Human Genetics · Jul 1, 2024Peer-reviewedGenetic & Genomic Medicine