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[1]Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations. Wang W, Tu C, Nie H, Meng L, Li Y, Yuan S, Zhang Q, Du J, Wang J, Gong F, Fan L, Lu GX, Lin G, Tan YQ.J Med Genet. 2019 Nov;56(11):750-757. doi: 10.1136/jmedgenet-2019-106031. Epub 2019 Aug 14.
[2]Li DY, Yang XX, Tu CF, Wang WL, Meng LL, Lu GX, Tan YQ, Zhang QJ, Du J. Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans. Asian J Androl. 2021 Nov 5. doi: 10.4103/aja202154. Epub ahead of print. PMID: 34755699.
[3]Yang X, Li D, Tu C, He W, Meng L, Tan YQ, Lu G, Du J, Zhang Q. Novel variants of the PCCB gene in Chinese patients with propionic acidemia. Clin Chim Acta. 2021 Aug;519:18-25. doi: 10.1016/j.cca.2021.03.019. Epub 2021 Mar 31. PMID: 33798502.
[4]Identification of paternal germline mosaicism by MicroSeq and targeted next-generation sequencing. Dai C, Cheng D, Li W, Zeng S, Lu G, Zhang Q.Mol Genet Genomic Med. 2020 Jul 9:e1394. doi: 10.1002/mgg3.1394. Online ahead of print
[5]Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and miceChaofeng Tu 1, Jiangshan Cong 2, Qianjun Zhang 1, Xiaojin He 3, Rui Zheng 4, Xiaoxuan Yang 5, Yang Gao 3, Huan Wu 3, Mingrong Lv 3, Yayun Gu 6, Shuai Lu 6, Chunyu Liu 2, Shixiong Tian 2, Lanlan Meng 7, Weili Wang 5, Chen Tan 5, Hongchuan Nie 7, Dongyan Li 5, Huan Zhang 7, Fei Gong 1, Liang Hu 1, Guangxiu Lu 7, Wenming Xu 4, Ge Lin 1, Feng Zhang 2, Yunxia Cao 8, Yue-Qiu Tan 9 Am J Hum Gene
[6]Parental mosaicism in de novo neurodevelopmental diseases Li Shu 1 2 3, Qianjun Zhang 4 5 6, Qi Tian 1 2, Sai Yang 7, Xingwang Peng 8, Xiao Mao 1 2, Liming Yang 7, Juan Du 4 5 6, Hua Wang Am J Med Genet A. 2021 Jul;185(7):2119-2125. doi: 10.1002/ajmg.a.62174.Epub 2021 Apr 14.
[7]Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD. Tu C, Nie H, Meng L, Wang W, Li H, Yuan S, Cheng D, He W, Liu G, Du J, Gong F, Lu G, Lin G, Zhang Q, Tan YQ.Hum Genet. 2020 Feb;139(2):257-271. doi: 10.1007/s00439-020-02110-0. Epub 2020 Jan 16.
[8]Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia. Wang H, Meng L, Li W, Du J, Tan Y, Gong F, Lu G, Lin G, Zhang Q.ClinChimActa. 2020 Mar;502:153-158. doi: 10.1016/j.cca.2019.12.021
[9]Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis. Miao H, Zhou J, Yang Q, Liang F, Wang D, Ma N, Gao B, Du J, Lin G, Wang K, Zhang Q.Hereditas. 2018 Sep 28;155:32. doi: 10.1186/s41065-018-0069-1.
[10]Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia[J].Human Reproduction, 2023年,38(7):1399-1411.
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