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Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
bioRxiv [Preprint]. 2023 Sep 27:2023.09.26.559521. doi: 10.1101/2023.09.26.559521.
bioRxiv. 2023.
PMID: 37808736
Free PMC article.
Preprint.
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.
Item in Clipboard
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.
Item in Clipboard
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.
Item in Clipboard
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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