Truong CK - Search Results

1

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ. Tang S, et al. Among authors: truong ck. Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23463613

2

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.

3

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. Invest Ophthalmol Vis Sci. 2014 Aug 5;55(10):6213-23. doi: 10.1167/iovs.14-14936. Invest Ophthalmol Vis Sci. 2014. PMID: 25097241

4

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. 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.

5

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Dimmock DP, et al. Hum Mutat. 2008 Feb;29(2):330-1. doi: 10.1002/humu.9519. Hum Mutat. 2008. PMID: 18205204

6

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders.

Cui H, Li F, Chen D, Wang G, Truong CK, Enns GM, Graham B, Milone M, Landsverk ML, Wang J, Zhang W, Wong LJ. Cui H, et al. Among authors: truong ck. Genet Med. 2013 May;15(5):388-94. doi: 10.1038/gim.2012.144. Epub 2013 Jan 3. Genet Med. 2013. PMID: 23288206 Free article.

7

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Wong LJ, et al. Among authors: truong ck. Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799. Hepatology. 2007. PMID: 17694548

8

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, Truong CK, Wong LJ. Van Hove JL, et al. Among authors: truong ck. Am J Med Genet A. 2009 May;149A(5):861-7. doi: 10.1002/ajmg.a.32731. Am J Med Genet A. 2009. PMID: 19353676 Review.

9

Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI.

Brunetti-Pierri N, Selby K, O'Sullivan M, Hendson G, Truong C, Waters PJ, Wong LJ. Brunetti-Pierri N, et al. Neuropediatrics. 2008 Jun;39(3):179-83. doi: 10.1055/s-0028-1093334. Epub 2008 Nov 7. Neuropediatrics. 2008. PMID: 18991199

10

Alpers syndrome with prominent white matter changes.

Bao X, Wu Y, Wong LJ, Zhang Y, Xiong H, Chou PC, Truong CK, Jiang Y, Qin J, Yuan Y, Lin Q, Wu X. Bao X, et al. Among authors: truong ck. Brain Dev. 2008 Apr;30(4):295-300. doi: 10.1016/j.braindev.2007.08.009. Epub 2007 Oct 17. Brain Dev. 2008. PMID: 17923349

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