Xu M - Search Results

1

Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.

Tajiguli A, Xu M, Fu Q, Yiming R, Wang K, Li Y, Eblimit A, Sui R, Chen R, Aisa HA. Tajiguli A, et al. Among authors: xu m. Sci Rep. 2016 Feb 9;6:21384. doi: 10.1038/srep21384. Sci Rep. 2016. PMID: 26856745 Free PMC article.

2

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.

Zhang Q, Xu M, Verriotto JD, Li Y, Wang H, Gan L, Lam BL, Chen R. Zhang Q, et al. Among authors: xu m. Sci Rep. 2016 Sep 6;6:32792. doi: 10.1038/srep32792. Sci Rep. 2016. PMID: 27596865 Free PMC article.

3

The phenotypic variability of HK1-associated retinal dystrophy.

Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, Wu S, Soens ZT, Li Y, Wong LC, Lewis RA, Sui R, Chen R. Yuan Z, et al. Among authors: xu m. Sci Rep. 2017 Aug 1;7(1):7051. doi: 10.1038/s41598-017-07629-3. Sci Rep. 2017. PMID: 28765615 Free PMC article.

4

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

Salvo J, Lyubasyuk V, Xu M, Wang H, Wang F, Nguyen D, Wang K, Luo H, Wen C, Shi C, Lin D, Zhang K, Chen R. Salvo J, et al. Among authors: xu m. Invest Ophthalmol Vis Sci. 2015 Feb 24;56(3):1937-46. doi: 10.1167/iovs.14-16065. Invest Ophthalmol Vis Sci. 2015. PMID: 25711638 Free PMC article.

5

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

Xu M, Gelowani V, Eblimit A, Wang F, Young MP, Sawyer BL, Zhao L, Jenkins G, Creel DJ, Wang K, Ge Z, Wang H, Li Y, Hartnett ME, Chen R. Xu M, et al. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3889-95. doi: 10.1167/iovs.15-16778. Invest Ophthalmol Vis Sci. 2015. PMID: 26070061 Free PMC article.

6

Mutations in human IFT140 cause non-syndromic retinal degeneration.

Xu M, Yang L, Wang F, Li H, Wang X, Wang W, Ge Z, Wang K, Zhao L, Li H, Li Y, Sui R, Chen R. Xu M, et al. Hum Genet. 2015 Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x. Epub 2015 Jul 28. Hum Genet. 2015. PMID: 26216056 Free PMC article.

7

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

Li J, Tang J, Feng Y, Xu M, Chen R, Zou X, Sui R, Chang EY, Lewis RA, Zhang VW, Wang J, Wong LC. Li J, et al. Among authors: xu m. J Mol Diagn. 2016 Nov;18(6):817-824. doi: 10.1016/j.jmoldx.2016.06.007. Epub 2016 Sep 10. J Mol Diagn. 2016. PMID: 27620828 Free article.

8

CEP78 is mutated in a distinct type of Usher syndrome.

Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, Li H, Sun Z, Li H, Yang L, Wang K, Zhang F, Li Y, Zhao C, Sui R, Chen R. Fu Q, et al. Among authors: xu m. J Med Genet. 2017 Mar;54(3):190-195. doi: 10.1136/jmedgenet-2016-104166. Epub 2016 Sep 14. J Med Genet. 2017. PMID: 27627988 Free PMC article.

9

SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data.

Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, Agrawal SA, Li Y, Daiger SP, Gibbs R, Wang F, Chen R. Chen Y, et al. Among authors: xu m. BMC Bioinformatics. 2017 Mar 3;18(1):147. doi: 10.1186/s12859-017-1566-3. BMC Bioinformatics. 2017. PMID: 28253855 Free PMC article.

10

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R. Soens ZT, et al. Among authors: xu m. Hum Mutat. 2017 Nov;38(11):1521-1533. doi: 10.1002/humu.23294. Epub 2017 Aug 18. Hum Mutat. 2017. PMID: 28714225 Free PMC article.

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