Suzanne de Bruijn
@suzannedebruijn.bsky.social
Postdoc @ Human Genetics Radboudumc Nijmegen
Sensory disorders | Genomics | Multi-omics | Structural variants | Gene regulation
Sensory disorders | Genomics | Multi-omics | Structural variants | Gene regulation
Using targeted #RNAseq, we confirmed that this LINE-1/ERV1-insertion causes a splice defect—ultimately leading to a definitive genetic diagnosis for this individual.
Many thanks to all collaborators—especially Kornelia Neveling and Susanne Roosing—for their contributions!
@radboudumc.bsky.social
Many thanks to all collaborators—especially Kornelia Neveling and Susanne Roosing—for their contributions!
@radboudumc.bsky.social
April 23, 2025 at 2:50 PM
Using targeted #RNAseq, we confirmed that this LINE-1/ERV1-insertion causes a splice defect—ultimately leading to a definitive genetic diagnosis for this individual.
Many thanks to all collaborators—especially Kornelia Neveling and Susanne Roosing—for their contributions!
@radboudumc.bsky.social
Many thanks to all collaborators—especially Kornelia Neveling and Susanne Roosing—for their contributions!
@radboudumc.bsky.social