Wong LJ - Search Results

1

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.

Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong LJ, Lewis RA, Chen R. Xu M, et al. Among authors: wong lj. Hum Mutat. 2016 Mar;37(3):246-9. doi: 10.1002/humu.22940. Epub 2016 Jan 6. Hum Mutat. 2016. PMID: 26662040 Free PMC article.

2

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

3

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: wong lj. Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23463613

4

SURF1-associated Leigh syndrome: a case series and novel mutations.

Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ. Lee IC, et al. Among authors: wong lj. Hum Mutat. 2012 Aug;33(8):1192-200. doi: 10.1002/humu.22095. Epub 2012 Apr 30. Hum Mutat. 2012. PMID: 22488715

5

Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW.

Granadillo JL, Moss T, Lewis RA, Austin EG, Kelfer H, Wang J, Wong LJ, Scaglia F. Granadillo JL, et al. Among authors: wong lj. Mol Genet Metab Rep. 2014;1:61-65. doi: 10.1016/j.ymgmr.2013.12.001. Mol Genet Metab Rep. 2014. PMID: 25302159 Free PMC article.

6

Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders.

Landsverk ML, Wang J, Schmitt ES, Pursley AN, Wong LJ. Landsverk ML, et al. Among authors: wong lj. Mol Genet Metab. 2011 Jun;103(2):148-52. doi: 10.1016/j.ymgme.2011.03.003. Epub 2011 Mar 10. Mol Genet Metab. 2011. PMID: 21482165

7

Diagnostic approaches to apparent homozygosity.

Landsverk ML, Douglas GV, Tang S, Zhang VW, Wang GL, Wang J, Wong LJ. Landsverk ML, et al. Among authors: wong lj. Genet Med. 2012 Oct;14(10):877-82. doi: 10.1038/gim.2012.58. Epub 2012 May 17. Genet Med. 2012. PMID: 22595940 Free article.

8

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: wong lj. 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.

9

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ. Wang GL, et al. Among authors: wong lj. Mol Genet Metab. 2011 Aug;103(4):349-57. doi: 10.1016/j.ymgme.2011.05.001. Epub 2011 May 7. Mol Genet Metab. 2011. PMID: 21605995

10

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: wong lj. 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.

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