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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: landsverk m. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free article.
Novel variants identified in CKAP2L in two siblings with Filippi syndrome.
Patrick RJ, Weimer J, Davis-Keppen L, Landsverk ML. Patrick RJ, et al. Among authors: landsverk ml. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006130. doi: 10.1101/mcs.a006130. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 34921061 Free PMC 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: landsverk m. Hum Mutat. 2020 Oct;41(10):1783-1796. doi: 10.1002/humu.24082. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652755
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.
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.
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.
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.
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.
41 results