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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: zhu t. Hum Genet. 2021 Apr;140(4):579-592. doi: 10.1007/s00439-020-02226-3. Epub 2020 Oct 13. Hum Genet. 2021. PMID: 33048237
SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia.
Guo H, Jin X, Zhu T, Wang T, Tong P, Tian L, Peng Y, Sun L, Wan A, Chen J, Liu Y, Li Y, Tian Q, Xia L, Zhang L, Pan Y, Lu L, Liu Q, Shen L, Li Y, Xiong W, Li J, Tang B, Feng Y, Zhang X, Zhang Z, Pan Q, Hu Z, Xia K. Guo H, et al. Among authors: zhu t. J Med Genet. 2014 Aug;51(8):518-25. doi: 10.1136/jmedgenet-2014-102351. Epub 2014 Jun 2. J Med Genet. 2014. PMID: 24891338 Free PMC article.
The autism risk gene CNTN4 modulates dendritic spine formation.
Zhao R, Zhu T, Liu Q, Tian Q, Wang M, Chen J, Tong D, Yu B, Guo H, Xia K, Qiu Z, Hu Z. Zhao R, et al. Among authors: zhu t. Hum Mol Genet. 2021 Dec 27;31(2):207-218. doi: 10.1093/hmg/ddab233. Hum Mol Genet. 2021. PMID: 34415325
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. Guo H, et al. Among authors: zhu t. Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep. Sci Adv. 2019. PMID: 31579823 Free PMC article.
Association of genetic variants of GRIN2B with autism.
Pan Y, Chen J, Guo H, Ou J, Peng Y, Liu Q, Shen Y, Shi L, Liu Y, Xiong Z, Zhu T, Luo S, Hu Z, Zhao J, Xia K. Pan Y, et al. Among authors: zhu t. Sci Rep. 2015 Feb 6;5:8296. doi: 10.1038/srep08296. Sci Rep. 2015. PMID: 25656819 Free PMC article.
8,257 results