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Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.
Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Sun C, et al. Among authors: zhang vw. Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31192300 Free PMC article.
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: zhang vw. 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.
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. Among authors: zhang s, zhang vw. 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.
Correction: 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. Among authors: zhang s, zhang vw. Genet Med. 2020 May;22(5):979. doi: 10.1038/s41436-020-0770-0. Genet Med. 2020. PMID: 32132679 Free article.
Correction: 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. Among authors: zhang s, zhang vw. Genet Med. 2020 Jun;22(6):1130. doi: 10.1038/s41436-020-0802-9. Genet Med. 2020. PMID: 32269312 Free article.
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. Among authors: zhang s, zhang vw. Hum Mutat. 2020 Oct;41(10):1783-1796. doi: 10.1002/humu.24082. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652755
109 results