Zhang L - Search Results

1

Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy.

Ge L, Liu A, Gao K, Du R, Ding J, Mao B, Hua Y, Zhang X, Tan D, Yang H, Fu X, Fan Y, Zhang L, Song S, Wu J, Zhang F, Jiang Y, Wu X, Xiong H. Ge L, et al. Among authors: zhang l, zhang f, zhang x. Sci Rep. 2018 Oct 9;8(1):14989. doi: 10.1038/s41598-018-33098-3. Sci Rep. 2018. PMID: 30301903 Free PMC article.

2

Rearrangement structure-independent strategy of CNV breakpoint analysis.

Xiao J, Zhang L, Wang J, Jiang Y, Jin L, Lu J, Jin L, Zhong C, Xu X, Zhang F. Xiao J, et al. Among authors: zhang l, zhang f. Mol Genet Genomics. 2014 Oct;289(5):755-63. doi: 10.1007/s00438-014-0850-4. Epub 2014 Apr 16. Mol Genet Genomics. 2014. PMID: 24737421

3

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.

Zhang L, Wang J, Zhang C, Li D, Carvalho CMB, Ji H, Xiao J, Wu Y, Zhou W, Wang H, Jin L, Luo Y, Wu X, Lupski JR, Zhang F, Jiang Y. Zhang L, et al. Among authors: zhang c, zhang f. Hum Mol Genet. 2017 May 15;26(10):1927-1941. doi: 10.1093/hmg/ddx102. Hum Mol Genet. 2017. PMID: 28334874 Free PMC article.

4

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.

Tang S, Wang X, Li W, Yang X, Li Z, Liu W, Li C, Zhu Z, Wang L, Wang J, Zhang L, Sun X, Zhi E, Wang H, Li H, Jin L, Luo Y, Wang J, Yang S, Zhang F. Tang S, et al. Among authors: zhang l, zhang f. Am J Hum Genet. 2017 Jun 1;100(6):854-864. doi: 10.1016/j.ajhg.2017.04.012. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552195 Free PMC article.

5

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.

Yang N, Wu N, Zhang L, Zhao Y, Liu J, Liang X, Ren X, Li W, Chen W, Dong S, Zhao S, Lin J, Xiang H, Xue H, Chen L, Sun H, Zhang J, Shi J, Zhang S, Lu D, Wu X, Jin L, Ding J, Qiu G, Wu Z, Lupski JR, Zhang F. Yang N, et al. Among authors: zhang l, zhang s, zhang f, zhang j. Hum Mol Genet. 2019 Feb 15;28(4):539-547. doi: 10.1093/hmg/ddy358. Hum Mol Genet. 2019. PMID: 30307510 Free PMC article.

6

Large De Novo Microdeletion in Epilepsy with Intellectual and Developmental Disabilities, with a Systems Biology Analysis.

Gao K, Zhang Y, Zhang L, Kong W, Xie H, Wang J, Wu Y, Wu X, Liu X, Zhang Y, Zhang F, Yu AC, Jiang Y. Gao K, et al. Among authors: zhang l, zhang f, zhang y. Adv Neurobiol. 2018;21:247-266. doi: 10.1007/978-3-319-94593-4_9. Adv Neurobiol. 2018. PMID: 30334225

7

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.

Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group; Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics; Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. Liu J, et al. Among authors: zhang l, zhang b, zhang s, zhang f, zhang j, zhang x. Genet Med. 2019 Jul;21(7):1548-1558. doi: 10.1038/s41436-018-0377-x. Epub 2019 Jan 14. Genet Med. 2019. PMID: 30636772 Free PMC article.

8

A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability.

Zhang L, Xu X, Sun K, Sun J, Wang Y, Liu Y, Yang N, Tao C, Cai B, Shi G, Zhang F, Shi J. Zhang L, et al. Among authors: zhang f. Am J Med Genet A. 2019 Jun;179(6):936-939. doi: 10.1002/ajmg.a.61088. Epub 2019 Mar 18. Am J Med Genet A. 2019. PMID: 30883014

9

Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.

Ren X, Yang N, Wu N, Xu X, Chen W, Zhang L, Li Y, Du RQ, Dong S, Zhao S, Chen S, Jiang LP, Wang L, Zhang J, Wu Z, Jin L, Qiu G, Lupski JR, Shi J, Zhang F, Liu P. Ren X, et al. Among authors: zhang l, zhang f, zhang j. J Med Genet. 2020 Jun;57(6):371-379. doi: 10.1136/jmedgenet-2019-106333. Epub 2019 Dec 30. J Med Genet. 2020. PMID: 31888956 Free PMC article.

10

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Yang N, Wu N, Dong S, Zhang L, Zhao Y, Chen W, Du R, Song C, Ren X, Liu J, Pehlivan D, Liu Z, Rao J, Wang C, Zhao S, Breman AM, Xue H, Sun H, Shen J, Zhang S, Posey JE, Xu H, Jin L, Zhang J, Liu P, Sanna-Cherchi S, Qiu G, Wu Z, Lupski JR, Zhang F. Yang N, et al. Among authors: zhang l, zhang s, zhang f, zhang j. Kidney Int. 2020 Oct;98(4):1020-1030. doi: 10.1016/j.kint.2020.04.045. Epub 2020 May 22. Kidney Int. 2020. PMID: 32450157 Free PMC article.

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