Patient brain organoids identify a link between the 16p11.2 copy number variant and the RBFOX1 gene.
Milos Kostic, Joseph J. Raymond, Christophe A. C. Freyre, Beata Henry, Tayfun Tumkaya, Jivan Khlghatyan, Jill Dvornik, Jingyao Li, Jack S. Hsiao, Seon Hye Cheon, Jonathan Chung, Yishan Sun, Ricardo E. Dolmetsch, Kathleen A. Worringer, Robert J. Ihry
The paper uses patient brain organoids to show that 16p11.2 CNVs affect RBFOX1 expression and link it to neurodevelopmental disorders.
ACS Chemical Neuroscience · Oct 30, 2023Peer-reviewedNeuroscience