Liu Y - Search Results

1

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma.

Xu Y, Li X, Ge HJ, Xiao B, Zhang YY, Ying XM, Pan XY, Wang L, Xie WW, Ni L, Chen SP, Jiang WT, Liu P, Ye H, Cao Y, Zhang JM, Liu Y, Yang ZJ, Chen YW, Chen F, Jiang H, Ji X. Xu Y, et al. Among authors: liu y, liu p. Genet Med. 2015 Nov;17(11):889-96. doi: 10.1038/gim.2014.207. Epub 2015 Feb 5. Genet Med. 2015. PMID: 25654318 Free article.

2

Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.

Xiao B, Qiu W, Ji X, Liu X, Huang Z, Liu H, Fan Y, Xu Y, Liu Y, Yie H, Wei W, Yan H, Gong Z, Shen L, Sun Y. Xiao B, et al. Among authors: liu y, liu x, liu h. Am J Med Genet A. 2018 Jan;176(1):107-115. doi: 10.1002/ajmg.a.38542. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29159939

3

Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing.

Xu Y, Wang H, Xiao B, Wei W, Liu Y, Ye H, Ying X, Chen Y, Liu X, Ji X, Sun Y. Xu Y, et al. Among authors: liu y, liu x. Gene. 2018 Mar 1;645:113-118. doi: 10.1016/j.gene.2017.12.037. Epub 2017 Dec 19. Gene. 2018. PMID: 29273555

4

[Genotypic and phenotypic analysis of a patient with de novo partial monosomy 18p and partial trisomy 18q].

Xiao B, Ji X, Ye H, Liu Y, Cao Y, Sun Y, Wei W, Qiu W. Xiao B, et al. Among authors: liu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 May 10;36(5):484-487. doi: 10.3760/cma.j.issn.1003-9406.2019.05.017. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31030439 Chinese.

5

[Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing].

Wang H, Jiang W, Dai M, Xiao B, Xu Y, Sun Y, Liu Y, Ying X, Sun Y, Wei W, Ji X. Wang H, et al. Among authors: liu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):686-689. doi: 10.3760/cma.j.issn.1003-9406.2019.07.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31302911 Chinese.

6

Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR.

Xu Y, Xiao B, Liu Y, Qu XX, Dai MY, Ying XM, Jiang WT, Zhang JM, Liu XQ, Chen YW, Ji X. Xu Y, et al. Among authors: liu y, liu xq. Neuromuscul Disord. 2020 Mar;30(3):219-226. doi: 10.1016/j.nmd.2019.11.010. Epub 2019 Dec 25. Neuromuscul Disord. 2020. PMID: 32169315

7

Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.

Dai M, Xu Y, Sun Y, Xiao B, Ying X, Liu Y, Jiang W, Zhang J, Liu X, Ji X. Dai M, et al. Among authors: liu y, liu x. Mol Genet Genomics. 2022 Jul;297(4):1039-1048. doi: 10.1007/s00438-022-01874-6. Epub 2022 May 25. Mol Genet Genomics. 2022. PMID: 35612622

8

A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome.

Ji X, Xing Y, Xu Y, Liu Y, Chen Y, Tao J, Xiao B. Ji X, et al. Among authors: liu y. Gene. 2014 Mar 1;537(1):140-2. doi: 10.1016/j.gene.2013.12.018. Epub 2013 Dec 26. Gene. 2014. PMID: 24374473

9

Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.

He Y, Ji X, Yan H, Ye X, Liu Y, Wei W, Xiao B, Sun Y. He Y, et al. Among authors: liu y. Gene. 2018 Jun 20;660:13-17. doi: 10.1016/j.gene.2018.03.063. Epub 2018 Mar 20. Gene. 2018. PMID: 29572195

10

Copy number variation profile in noninvasive prenatal testing (NIPT) can identify co-existing maternal malignancies: Case reports and a literature review.

Ji X, Chen F, Zhou Y, Li J, Yuan Y, Mo Y, Liu Q, Tseng JY, Shih-Chieh Lin D, Shen SH, Liu Y, Ye W, Cheung YN, Yuen KY, Lin S, Fu M, Zhang H, Liu N, Wang J, Yang H, Wang Y, Li S, Fan S, Jin X, Mao M, Sung PL. Ji X, et al. Among authors: liu y, liu n, liu q. Taiwan J Obstet Gynecol. 2018 Dec;57(6):871-877. doi: 10.1016/j.tjog.2018.10.032. Taiwan J Obstet Gynecol. 2018. PMID: 30545544 Free article. Review.

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