Transcriptional Determinism and Stochasticity Contribute to the Complexity of Autism Associated SHANK Family Genes
Xiaona Lu, Pengyu Ni, Paola Suárez-Meade, Yu Ma, Emily Forrest, Guilin Wang, Yi Wang, Alfredo Quiñones‐Hinojosa, Mark Gerstein, Yong-Hui Jiang
The paper profiles the SHANK3 transcriptome using cDNA-capture and long-read sequencing, revealing complex transcript variants altered in Shank3 mutants and ASD brains, improving variant detection in neuropsychiatric disorders.
Cell Reports · Jun 18, 2024Peer-reviewedGenetics