Wong LC - Search Results

1

Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report.

Patel DR, Yu H, Wong LC, Lupski JR, Seeborg FO, Rider NL, Martinez CA, Orange JS, Hanson C. Patel DR, et al. Among authors: wong lc. J Allergy Clin Immunol Pract. 2017 Sep-Oct;5(5):1442-1444. doi: 10.1016/j.jaip.2017.03.004. Epub 2017 Apr 21. J Allergy Clin Immunol Pract. 2017. PMID: 28438538 No abstract available.

2

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: wong lc. 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.

3

Clinical and laboratory interpretation of mitochondrial mRNA variants.

Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJ. Wong LC, et al. Hum Mutat. 2020 Oct;41(10):1783-1796. doi: 10.1002/humu.24082. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652755

4

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.

Tsai AC, Hung YW, Harding C, Koeller DM, Wang J, Wong LC. Tsai AC, et al. Among authors: wong lc. Am J Med Genet A. 2017 Sep;173(9):2500-2504. doi: 10.1002/ajmg.a.38333. Epub 2017 Jun 28. Am J Med Genet A. 2017. PMID: 28657663

5

Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.

Chen TH, Tian X, Kuo PL, Pan HP, Wong LC, Jong YJ. Chen TH, et al. Among authors: wong lc. Prenat Diagn. 2016 Dec;36(12):1135-1138. doi: 10.1002/pd.4949. Epub 2016 Nov 18. Prenat Diagn. 2016. PMID: 27762439

6

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: wong lc. 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.

7

Interpretation of mitochondrial tRNA variants.

Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Wong LC, et al. Genet Med. 2020 May;22(5):917-926. doi: 10.1038/s41436-019-0746-0. Epub 2020 Jan 22. Genet Med. 2020. PMID: 31965079 Free article.

8

Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

Uittenbogaard M, Brantner CA, Fang Z, Wong LC, Gropman A, Chiaramello A. Uittenbogaard M, et al. Among authors: wong lc. Mol Genet Metab. 2018 May;124(1):71-81. doi: 10.1016/j.ymgme.2018.03.011. Epub 2018 Mar 27. Mol Genet Metab. 2018. PMID: 29602698 Free PMC article.

9

Molecular and clinical spectra of FBXL4 deficiency.

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Among authors: wong lc. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.

10

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LC, Jong YJ. Liang WC, et al. Among authors: wong lc. PLoS One. 2017 Feb 9;12(2):e0170517. doi: 10.1371/journal.pone.0170517. eCollection 2017. PLoS One. 2017. PMID: 28182637 Free PMC article.

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