Wu Q - Search Results

1

Novel copy number variations and phenotypes of infantile epileptic spasms syndrome.

Cheng M, Bai L, Yang Y, Liu W, Niu X, Chen Y, Tan Q, Yang X, Wu Q, Zhao HQ, Zhang Y. Cheng M, et al. Among authors: wu q. Clin Genet. 2024 Mar 28. doi: 10.1111/cge.14520. Online ahead of print. Clin Genet. 2024. PMID: 38544467

2

ATP1A3 mosaicism in families with alternating hemiplegia of childhood.

Yang X, Yang X, Chen J, Li S, Zeng Q, Huang AY, Ye AY, Yu Z, Wang S, Jiang Y, Wu X, Wu Q, Wei L, Zhang Y. Yang X, et al. Among authors: wu x, wu q. Clin Genet. 2019 Jul;96(1):43-52. doi: 10.1111/cge.13539. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30891744 Free PMC article.

3

Mosaicism and incomplete penetrance of PCDH19 mutations.

Liu A, Yang X, Yang X, Wu Q, Zhang J, Sun D, Yang Z, Jiang Y, Wu X, Wei L, Zhang Y. Liu A, et al. Among authors: wu x, wu q. J Med Genet. 2019 Feb;56(2):81-88. doi: 10.1136/jmedgenet-2017-105235. Epub 2018 Oct 4. J Med Genet. 2019. PMID: 30287595 Free PMC article.

4

Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening.

Dang M, Xu H, Zhang J, Wang W, Bai L, Fang N, Liang L, Zhang J, Liu F, Wu Q, Wang S, Guan Y. Dang M, et al. Among authors: wu q. Genet Med. 2020 Feb;22(2):301-308. doi: 10.1038/s41436-019-0636-5. Epub 2019 Aug 30. Genet Med. 2020. PMID: 31467446 Free PMC article.

5

Correction: Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening.

Dang M, Xu H, Zhang J, Wang W, Bai L, Fang N, Liang L, Zhang J, Liu F, Wu Q, Wang S, Guan Y. Dang M, et al. Among authors: wu q. Genet Med. 2020 Feb;22(2):450. doi: 10.1038/s41436-019-0728-2. Genet Med. 2020. PMID: 31822850 Free PMC article.

6

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals.

Huang AY, Xu X, Ye AY, Wu Q, Yan L, Zhao B, Yang X, He Y, Wang S, Zhang Z, Gu B, Zhao HQ, Wang M, Gao H, Gao G, Zhang Z, Yang X, Wu X, Zhang Y, Wei L. Huang AY, et al. Among authors: wu x, wu q. Cell Res. 2014 Nov;24(11):1311-27. doi: 10.1038/cr.2014.131. Epub 2014 Oct 14. Cell Res. 2014. PMID: 25312340 Free PMC article.

7

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Xu X, Yang X, Wu Q, Liu A, Yang X, Ye AY, Huang AY, Li J, Wang M, Yu Z, Wang S, Zhang Z, Wu X, Wei L, Zhang Y. Xu X, et al. Among authors: wu x, wu q. Hum Mutat. 2015 Sep;36(9):861-72. doi: 10.1002/humu.22819. Epub 2015 Jul 24. Hum Mutat. 2015. PMID: 26096185 Free PMC article.

8

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.

Yang X, Liu A, Xu X, Yang X, Zeng Q, Ye AY, Yu Z, Wang S, Huang AY, Wu X, Wu Q, Wei L, Zhang Y. Yang X, et al. Among authors: wu x, wu q. Sci Rep. 2017 Nov 15;7(1):15677. doi: 10.1038/s41598-017-15814-7. Sci Rep. 2017. PMID: 29142202 Free PMC article.

9

Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies.

Fan Y, Liu A, Wei C, Yang H, Chang X, Wang S, Yuan Y, Bonnemann C, Wu Q, Wu X, Xiong H. Fan Y, et al. Among authors: wu x, wu q. Clin Genet. 2018 Jun;93(6):1159-1171. doi: 10.1111/cge.13230. Epub 2018 Mar 12. Clin Genet. 2018. PMID: 29419890

10

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.

Fan Y, Tan D, Song D, Zhang X, Chang X, Wang Z, Zhang C, Chan SH, Wu Q, Wu L, Wang S, Yan H, Ge L, Yang H, Mao B, Bönnemann C, Liu J, Wang S, Yuan Y, Wu X, Zhang H, Xiong H. Fan Y, et al. Among authors: wu x, wu q, wu l. J Med Genet. 2021 May;58(5):326-333. doi: 10.1136/jmedgenet-2019-106671. Epub 2020 Jun 22. J Med Genet. 2021. PMID: 32571898 Free PMC article.

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