Du R - Search Results

1

Evaluation of copy number variation detection for a SNP array platform.

Zhang X, Du R, Li S, Zhang F, Jin L, Wang H. Zhang X, et al. Among authors: du r. BMC Bioinformatics. 2014 Feb 21;15:50. doi: 10.1186/1471-2105-15-50. BMC Bioinformatics. 2014. PMID: 24555668 Free PMC article.

2

[Copy number variations in the human genome: their mutational mechanisms and roles in diseases].

Du RQ, Jin L, Zhang F. Du RQ, et al. Yi Chuan. 2011 Aug;33(8):857-69. doi: 10.3724/sp.j.1005.2011.00857. Yi Chuan. 2011. PMID: 21831802 Review. Chinese.

3

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.

Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H, Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P, Wu X. Jiang Y, et al. Among authors: du r. Hum Genet. 2012 Jul;131(7):1217-24. doi: 10.1007/s00439-012-1149-3. Epub 2012 Feb 26. Hum Genet. 2012. PMID: 22367439

4

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification.

Du R, Lu C, Jiang Z, Li S, Ma R, An H, Xu M, An Y, Xia Y, Jin L, Wang X, Zhang F. Du R, et al. J Hum Genet. 2012 Aug;57(8):545-51. doi: 10.1038/jhg.2012.66. Epub 2012 Jun 7. J Hum Genet. 2012. PMID: 22673690

5

Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome.

Peng Z, Zhou W, Fu W, Du R, Jin L, Zhang F. Peng Z, et al. Among authors: du r. Hum Mol Genet. 2015 Mar 1;24(5):1225-33. doi: 10.1093/hmg/ddu533. Epub 2014 Oct 16. Hum Mol Genet. 2015. PMID: 25324539

6

Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.

Ding J, Zhao D, Du R, Zhang Y, Yang H, Liu J, Yan C, Zhang F, Xiong H. Ding J, et al. Among authors: du r. Brain Dev. 2016 Feb;38(2):242-9. doi: 10.1016/j.braindev.2015.08.005. Epub 2015 Aug 21. Brain Dev. 2016. PMID: 26304763

7

SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.

Guan J, Wang D, Cao W, Zhao Y, Du R, Yuan H, Liu Q, Lan L, Zong L, Yang J, Yin Z, Han B, Zhang F, Wang Q. Guan J, et al. Among authors: du r. J Hum Genet. 2016 Nov;61(11):917-922. doi: 10.1038/jhg.2016.86. Epub 2016 Jul 7. J Hum Genet. 2016. PMID: 27383657 Free PMC article.

8

CNVbase: Batch identification of novel and rare copy number variations based on multi-ethnic population data.

Zhang C, Lu J, Lou H, Du R, Xu S, Shen Y, Zhang F, Jin L. Zhang C, et al. Among authors: du r. J Genet Genomics. 2017 Jul 20;44(7):367-370. doi: 10.1016/j.jgg.2017.07.001. Epub 2017 Jul 11. J Genet Genomics. 2017. PMID: 28739046 No abstract available.

9

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N. Liu J, et al. Among authors: du r. Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17. Hum Genet. 2018. PMID: 30019117 Free PMC article.

10

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: du r. Sci Rep. 2018 Oct 9;8(1):14989. doi: 10.1038/s41598-018-33098-3. Sci Rep. 2018. PMID: 30301903 Free PMC article.

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