1. Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Lupski, James R, Liu, Pengfei. 2019. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. In Genome medicine, 11, 12. doi:10.1186/s13073-019-0623-0. https://pubmed.ncbi.nlm.nih.gov/30819258/
2. Córdoba-Jover, Bernat, Ribera, Jordi, Portolés, Irene, Jiménez, Wladimiro, Morales-Ruiz, Manuel. 2023. Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans. In Liver international : official journal of the International Association for the Study of the Liver, 43, 1822-1836. doi:10.1111/liv.15640. https://pubmed.ncbi.nlm.nih.gov/37312667/
3. Huang, Si, Xu, Jiaxin, Li, Yiyang, Xin, Jing, Ma, Guoda. 2023. A syndrome featuring developmental disorder of the nervous system induced by a novel mutation in the TCF20 gene, rarely concurrent immune disorders: a case report. In Frontiers in genetics, 14, 1192668. doi:10.3389/fgene.2023.1192668. https://pubmed.ncbi.nlm.nih.gov/37303953/
4. Feng, Chao, Zhao, Jinyue, Ji, Fen, Chen, Yihui, Jiao, Jianwei. 2020. TCF20 dysfunction leads to cortical neurogenesis defects and autistic-like behaviors in mice. In EMBO reports, 21, e49239. doi:10.15252/embr.201949239. https://pubmed.ncbi.nlm.nih.gov/32510763/
5. Upadia, Jariya, Gonzales, Patrick R, Atkinson, T Prescott, Rudy, Natasha L, Mikhail, Fady M. 2018. A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C. In American journal of medical genetics. Part A, 176, 2791-2797. doi:10.1002/ajmg.a.40492. https://pubmed.ncbi.nlm.nih.gov/30216695/
6. Shah, Snehal, Sarasua, Sara M, Boccuto, Luigi, Dean, Brian C, Wang, Liangjiang. 2023. Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia. In Genes, 14, . doi:10.3390/genes14111998. https://pubmed.ncbi.nlm.nih.gov/38002941/
7. Mitz, Andrew R, Boccuto, Luigi, Thurm, Audrey. 2024. Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome. In Clinical genetics, 105, 459-469. doi:10.1111/cge.14503. https://pubmed.ncbi.nlm.nih.gov/38414139/
智鼠故事 
