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Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
Mol Neurodegener. 2018 Aug 21;13(1):46. doi: 10.1186/s13024-018-0274-4.
Mol Neurodegener. 2018.
PMID: 30126445
Free PMC article.
Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.
Wieben ED, Aleff RA, Basu S, Sarangi V, Bowman B, McLaughlin IJ, Mills JR, Butz ML, Highsmith EW, Ida CM, Ekholm JM, Baratz KH, Fautsch MP.
Wieben ED, et al. Among authors: mclaughlin ij.
PLoS One. 2019 Jul 5;14(7):e0219446. doi: 10.1371/journal.pone.0219446. eCollection 2019.
PLoS One. 2019.
PMID: 31276570
Free PMC article.
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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.
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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.
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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.
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MR1 encompasses at least six allele groups with coding region alterations.
Rozemuller E, Eckle SBG, McLaughlin I, Penning M, Mulder W, de Bruin H, van Wageningen S.
Rozemuller E, et al.
HLA. 2021 Dec;98(6):509-516. doi: 10.1111/tan.14390. Epub 2021 Aug 23.
HLA. 2021.
PMID: 34351076
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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.
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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.
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