Tian X - Search Results

1

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. Dai H, et al. Among authors: tian x. Clin Genet. 2017 Apr;91(4):634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5. Clin Genet. 2017. PMID: 27743463

2

Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.

Pupavac M, Tian X, Chu J, Wang G, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Watkins D, Wong LJ, Rosenblatt DS. Pupavac M, et al. Among authors: tian x. Mol Genet Metab. 2016 Mar;117(3):363-8. doi: 10.1016/j.ymgme.2016.01.008. Epub 2016 Jan 23. Mol Genet Metab. 2016. PMID: 26827111

3

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS. Chu J, et al. Among authors: tian x. Mol Genet Metab. 2016 Aug;118(4):264-71. doi: 10.1016/j.ymgme.2016.05.014. Epub 2016 May 20. Mol Genet Metab. 2016. PMID: 27233228

4

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

Wang J, Yu H, Zhang VW, Tian X, Feng Y, Wang G, Gorman E, Wang H, Lutz RE, Schmitt ES, Peacock S, Wong LJ. Wang J, et al. Among authors: tian x. Genet Med. 2016 May;18(5):513-21. doi: 10.1038/gim.2015.121. Epub 2015 Sep 24. Genet Med. 2016. PMID: 26402642 Free article.

5

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LC. Qin L, et al. Among authors: tian x. J Mol Diagn. 2016 May;18(3):446-453. doi: 10.1016/j.jmoldx.2016.01.002. Epub 2016 Mar 2. J Mol Diagn. 2016. PMID: 26944031 Free article.

6

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ. Wang J, et al. Among authors: tian x. Invest Ophthalmol Vis Sci. 2014 Aug 5;55(10):6213-23. doi: 10.1167/iovs.14-14936. Invest Ophthalmol Vis Sci. 2014. PMID: 25097241

7

Corrigendum to "Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations." [Mol. Genet. Metab. (Aug 2016); 118(4): 264-71].

Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS. Chu J, et al. Among authors: tian x. Mol Genet Metab. 2017 Mar;120(3):295. doi: 10.1016/j.ymgme.2016.11.001. Mol Genet Metab. 2017. PMID: 28284539 No abstract available.

8

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Tian X, Liang WC, Feng Y, Wang J, Zhang VW, Chou CH, Huang HD, Lam CW, Hsu YY, Lin TS, Chen WT, Wong LJ, Jong YJ. Tian X, et al. Neurol Genet. 2015 Aug 13;1(2):e14. doi: 10.1212/NXG.0000000000000015. eCollection 2015 Aug. Neurol Genet. 2015. PMID: 27066551 Free PMC article.

9

A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.

Li J, Dai H, Feng Y, Tang J, Chen S, Tian X, Gorman E, Schmitt ES, Hansen TA, Wang J, Plon SE, Zhang VW, Wong LJ. Li J, et al. Among authors: tian x. J Mol Diagn. 2015 Sep;17(5):545-53. doi: 10.1016/j.jmoldx.2015.04.001. J Mol Diagn. 2015. PMID: 26320870 Free article.

10

Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.

Yang L, Wei Z, Chen X, Hu L, Peng X, Wang J, Lu C, Kong Y, Dong X, Ni Q, Lu Y, Wu B, Wang H, Meirelles K, Tian X, Zhang J, Chang F, Liu L, Li C, You W, Cheng G, Wang L, Cao Y, Chen C, Fang P, Tang S, Zhou W. Yang L, et al. Among authors: tian x. Clin Genet. 2022 Jan;101(1):101-109. doi: 10.1111/cge.14075. Epub 2021 Oct 25. Clin Genet. 2022. PMID: 34671977

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