Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H, Wang T, Wu H, Long M, Coe BP, Li H, Xun G, Ou J, Chen B, Duan G, Bai T, Zhao N, Shen Y, Li Y, Wang Y, Zhang Y, Baker C, Liu Y, Pang N, Huang L, Han L, Jia X, Liu C, Ni H, Yang X, Xia L, Chen J, Shen L, Li Y, Zhao R, Zhao W, Peng J, Pan Q, Long Z, Su W, Tan J, Du X, Ke X, Yao M, Hu Z, Zou X, Zhao J, Bernier RA, Eichler EE, Xia K.
Guo H, et al.
Mol Autism. 2018 Dec 13;9:64. doi: 10.1186/s13229-018-0247-z. eCollection 2018.
Mol Autism. 2018.
PMID: 30564305
Free PMC article.
We tested the inheritance of potentially pathogenic mutations, performed a meta-analysis of phase I and phase II data and combined our results with existing exome sequence data to investigate the phenotypes of carrier parents and patients with multiple hits in different au …
We tested the inheritance of potentially pathogenic mutations, performed a meta-analysis of phase I and phase II data and combined our resul …