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Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
Ebbert MTW, Farrugia SL, Sens JP, Jansen-West K, Gendron TF, Prudencio M, McLaughlin IJ, Bowman B, Seetin M, DeJesus-Hernandez M, Jackson J, Brown PH, Dickson DW, van Blitterswijk M, Rademakers R, Petrucelli L, Fryer JD. Ebbert MTW, et al. Among authors: mclaughlin ij. Mol Neurodegener. 2018 Aug 21;13(1):46. doi: 10.1186/s13024-018-0274-4. Mol Neurodegener. 2018. PMID: 30126445 Free PMC article.
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
DeJesus-Hernandez M, Aleff RA, Jackson JL, Finch NA, Baker MC, Gendron TF, Murray ME, McLaughlin IJ, Harting JR, Graff-Radford NR, Oskarsson B, Knopman DS, Josephs KA, Boeve BF, Petersen RC, Fryer JD, Petrucelli L, Dickson DW, Rademakers R, Ebbert MTW, Wieben ED, van Blitterswijk M. DeJesus-Hernandez M, et al. Among authors: mclaughlin ij. Brain. 2021 May 7;144(4):1082-1088. doi: 10.1093/brain/awab006. Brain. 2021. PMID: 33889947 Free PMC article.
Validated assays for the quantification of C9orf72 human pathology.
Salomonsson SE, Maltos AM, Gill K, Aladesuyi Arogundade O, Brown KA, Sachdev A, Sckaff M, Lam KJK, Fisher IJ, Chouhan RS, Van Laar VS, Marley CB, McLaughlin I, Bankiewicz KS, Tsai YC, Conklin BR, Clelland CD. Salomonsson SE, et al. Among authors: mclaughlin i. Sci Rep. 2024 Jan 8;14(1):828. doi: 10.1038/s41598-023-50667-3. Sci Rep. 2024. PMID: 38191789 Free PMC article.
ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.
Morato Torres CA, Zafar F, Tsai YC, Vazquez JP, Gallagher MD, McLaughlin I, Hong K, Lai J, Lee J, Chirino-Perez A, Romero-Molina AO, Torres F, Fernandez-Ruiz J, Ashizawa T, Ziegle J, Jiménez Gil FJ, Schüle B. Morato Torres CA, et al. HGG Adv. 2022 Aug 15;3(4):100137. doi: 10.1016/j.xhgg.2022.100137. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 36092952 Free PMC article.
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Cheng YH, Ranchalis J, Mao Y, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB. Vollger MR, et al. Among authors: mclaughlin ij. bioRxiv [Preprint]. 2023 Sep 27:2023.09.26.559521. doi: 10.1101/2023.09.26.559521. bioRxiv. 2023. PMID: 37808736 Free PMC article. Preprint.
Does blood of healthy subjects contain bacterial ribosomal DNA?
Nikkari S, McLaughlin IJ, Bi W, Dodge DE, Relman DA. Nikkari S, et al. Among authors: mclaughlin ij. J Clin Microbiol. 2001 May;39(5):1956-9. doi: 10.1128/JCM.39.5.1956-1959.2001. J Clin Microbiol. 2001. PMID: 11326021 Free PMC article.