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Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Guo H, Peng Y, Hu Z, Li Y, Xun G, Ou J, Sun L, Xiong Z, Liu Y, Wang T, Chen J, Xia L, Bai T, Shen Y, Tian Q, Hu Y, Shen L, Zhao R, Zhang X, Zhang F, Zhao J, Zou X, Xia K. Guo H, et al. Among authors: xia l, xia k. Sci Rep. 2017 Mar 10;7:44155. doi: 10.1038/srep44155. Sci Rep. 2017. PMID: 28281572 Free PMC article. Clinical Trial.
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K, Eichler EE. Wang T, et al. Among authors: xia l, xia k. Nat Commun. 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316. Nat Commun. 2016. PMID: 27824329 Free PMC article.
Genetic landscape of human mitochondrial genome using whole-genome sequencing.
Wang Y, Zhao G, Fang Z, Pan H, Zhao Y, Wang Y, Zhou X, Wang X, Luo T, Zhang Y, Wang Z, Chen Q, Dong L, Huang Y, Zhou Q, Xia L, Li B, Guo J, Xia K, Tang B, Li J. Wang Y, et al. Among authors: xia l, xia k. Hum Mol Genet. 2022 Jun 4;31(11):1747-1761. doi: 10.1093/hmg/ddab358. Hum Mol Genet. 2022. PMID: 34897451
Interactions of genetic risks for autism and the broad autism phenotypes.
Dong L, Wang Y, Wang X, Luo T, Zhou Q, Zhao G, Li B, Xia L, Xia K, Li J. Dong L, et al. Among authors: xia l, xia k. Front Psychiatry. 2023 Mar 21;14:1110080. doi: 10.3389/fpsyt.2023.1110080. eCollection 2023. Front Psychiatry. 2023. PMID: 37102084 Free PMC article.
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z. Ahmed A, et al. Among authors: xia l, xia k. Hum Genet. 2021 Apr;140(4):579-592. doi: 10.1007/s00439-020-02226-3. Epub 2020 Oct 13. Hum Genet. 2021. PMID: 33048237
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. Among authors: xia l, xia k. Mol Autism. 2018 Dec 13;9:64. doi: 10.1186/s13229-018-0247-z. eCollection 2018. Mol Autism. 2018. PMID: 30564305 Free PMC article.
6,854 results