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Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Yang Y, et al. Among authors: landsverk m. JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. JAMA. 2014. PMID: 25326635 Free PMC article.
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: landsverk ml. Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31192300 Free PMC 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: landsverk m. 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: landsverk m. 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: landsverk m. Genet Med. 2020 Jun;22(6):1130. doi: 10.1038/s41436-020-0802-9. Genet Med. 2020. PMID: 32269312 Free article.
Response to Bai et al.
Wong LC, Chen T, Schmitt ES, Wang J, Zhang S, Landsverk M, Li F, Tang S, Wang Y, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: landsverk m. Genet Med. 2020 Aug;22(8):1420-1421. doi: 10.1038/s41436-020-0805-6. Epub 2020 May 18. Genet Med. 2020. PMID: 32418988 Free article. No abstract available.
41 results