Li J - Search Results

1

New Model for Estimation of the Age at Onset in Spinocerebellar Ataxia Type 3.

Peng L, Chen Z, Long Z, Liu M, Lei L, Wang C, Peng H, Shi Y, Peng Y, Deng Q, Wang S, Zou G, Wan L, Yuan H, He L, Xie Y, Tang Z, Wan N, Gong Y, Hou X, Shen L, Xia K, Li J, Chen C, Qiu R, Klockgether T, Tang B, Jiang H. Peng L, et al. Among authors: li j. Neurology. 2021 Jun 8;96(23):e2885-e2895. doi: 10.1212/WNL.0000000000012068. Epub 2021 Apr 23. Neurology. 2021. PMID: 33893204

2

mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.

Li J, Jiang Y, Wang T, Chen H, Xie Q, Shao Q, Ran X, Xia K, Sun ZS, Wu J. Li J, et al. J Med Genet. 2015 Apr;52(4):275-81. doi: 10.1136/jmedgenet-2014-102656. Epub 2015 Jan 16. J Med Genet. 2015. PMID: 25596308

3

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

Li J, Cai T, Jiang Y, Chen H, He X, Chen C, Li X, Shao Q, Ran X, Li Z, Xia K, Liu C, Sun ZS, Wu J. Li J, et al. Among authors: li z, li x. Mol Psychiatry. 2016 Feb;21(2):290-7. doi: 10.1038/mp.2015.40. Epub 2015 Apr 7. Mol Psychiatry. 2016. PMID: 25849321 Free PMC article.

4

Vitamin D-related genes are subjected to significant de novo mutation burdens in autism spectrum disorder.

Li J, Wang L, Yu P, Shi L, Zhang K, Sun ZS, Xia K. Li J, et al. Am J Med Genet B Neuropsychiatr Genet. 2017 Jul;174(5):568-577. doi: 10.1002/ajmg.b.32543. Epub 2017 Apr 13. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 28407358

5

Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.

Li J, Wang L, Guo H, Shi L, Zhang K, Tang M, Hu S, Dong S, Liu Y, Wang T, Yu P, He X, Hu Z, Zhao J, Liu C, Sun ZS, Xia K. Li J, et al. Mol Psychiatry. 2017 Sep;22(9):1282-1290. doi: 10.1038/mp.2017.140. Epub 2017 Jul 25. Mol Psychiatry. 2017. PMID: 28831199

6

A comparative study of the genetic components of three subcategories of autism spectrum disorder.

Li J, Hu S, Zhang K, Shi L, Zhang Y, Zhao T, Wang L, He X, Xia K, Liu C, Sun Z. Li J, et al. Mol Psychiatry. 2019 Nov;24(11):1720-1731. doi: 10.1038/s41380-018-0081-x. Epub 2018 Jun 6. Mol Psychiatry. 2019. PMID: 29875476

7

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.

Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS. Zeng S, et al. J Med Genet. 2019 Apr;56(4):265-270. doi: 10.1136/jmedgenet-2018-105484. Epub 2018 Sep 7. J Med Genet. 2019. PMID: 30194086

8

Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.

Zhao G, Li K, Li B, Wang Z, Fang Z, Wang X, Zhang Y, Luo T, Zhou Q, Wang L, Xie Y, Wang Y, Chen Q, Xia L, Tang Y, Tang B, Xia K, Li J. Zhao G, et al. Among authors: li j, li k, li b. Nucleic Acids Res. 2020 Jan 8;48(D1):D913-D926. doi: 10.1093/nar/gkz923. Nucleic Acids Res. 2020. PMID: 31642496 Free PMC article.

9

Mutation analysis of GLT8D1 and ARPP21 genes in amyotrophic lateral sclerosis patients from mainland China.

Li W, Liu Z, Sun W, Yuan Y, Hu Y, Ni J, Jiao B, Fang L, Li J, Shen L, Tang B, Wang J. Li W, et al. Among authors: li j. Neurobiol Aging. 2020 Jan;85:156.e1-156.e4. doi: 10.1016/j.neurobiolaging.2019.09.013. Epub 2019 Sep 25. Neurobiol Aging. 2020. PMID: 31653410

10

Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.

Sun QY, Xu Q, Tian Y, Hu ZM, Qin LX, Yang JX, Huang W, Xue J, Li JC, Zeng S, Wang Y, Min HX, Chen XY, Wang JP, Xie B, Liang F, Zhang HN, Wang CY, Lei LF, Yan XX, Xu HW, Duan RH, Xia K, Liu JY, Jiang H, Shen L, Guo JF, Tang BS. Sun QY, et al. Among authors: li jc. Brain. 2020 Jan 1;143(1):222-233. doi: 10.1093/brain/awz372. Brain. 2020. PMID: 31819945

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