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69 results

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RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Scriba CK, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ghaoui R, Ghia D, Henderson RD, Jordan N, Winkel A, Lamont PJ, Rodrigues MJ, Roxburgh RH, Weisburd B, Laing NG, Deveson IW, Davis MR, Ravenscroft G. Scriba CK, et al. Among authors: deveson iw. Brain Commun. 2023 Jul 25;5(4):fcad208. doi: 10.1093/braincomms/fcad208. eCollection 2023. Brain Commun. 2023. PMID: 37621409 Free PMC article.
Genopo: a nanopore sequencing analysis toolkit for portable Android devices.
Samarakoon H, Punchihewa S, Senanayake A, Hammond JM, Stevanovski I, Ferguson JM, Ragel R, Gamaarachchi H, Deveson IW. Samarakoon H, et al. Among authors: deveson iw. Commun Biol. 2020 Sep 29;3(1):538. doi: 10.1038/s42003-020-01270-z. Commun Biol. 2020. PMID: 32994472 Free PMC article.
Analytical validity of nanopore sequencing for rapid SARS-CoV-2 genome analysis.
Bull RA, Adikari TN, Ferguson JM, Hammond JM, Stevanovski I, Beukers AG, Naing Z, Yeang M, Verich A, Gamaarachchi H, Kim KW, Luciani F, Stelzer-Braid S, Eden JS, Rawlinson WD, van Hal SJ, Deveson IW. Bull RA, et al. Among authors: deveson iw. Nat Commun. 2020 Dec 9;11(1):6272. doi: 10.1038/s41467-020-20075-6. Nat Commun. 2020. PMID: 33298935 Free PMC article.
Respiratory viral co-infections among SARS-CoV-2 cases confirmed by virome capture sequencing.
Kim KW, Deveson IW, Pang CNI, Yeang M, Naing Z, Adikari T, Hammond JM, Stevanovski I, Beukers AG, Verich A, Yin S, McFarlane D, Wilkins MR, Stelzer-Braid S, Bull RA, Craig ME, van Hal SJ, Rawlinson WD. Kim KW, et al. Among authors: deveson iw. Sci Rep. 2021 Feb 16;11(1):3934. doi: 10.1038/s41598-021-83642-x. Sci Rep. 2021. PMID: 33594223 Free PMC article.
Fast nanopore sequencing data analysis with SLOW5.
Gamaarachchi H, Samarakoon H, Jenner SP, Ferguson JM, Amos TG, Hammond JM, Saadat H, Smith MA, Parameswaran S, Deveson IW. Gamaarachchi H, et al. Among authors: deveson iw. Nat Biotechnol. 2022 Jul;40(7):1026-1029. doi: 10.1038/s41587-021-01147-4. Epub 2022 Jan 3. Nat Biotechnol. 2022. PMID: 34980914 Free PMC article.
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
Grosz BR, Stevanovski I, Negri S, Ellis M, Barnes S, Reddel S, Vucic S, Nicholson GA, Cortese A, Kumar KR, Deveson IW, Kennerson ML. Grosz BR, et al. Among authors: deveson iw. J Peripher Nerv Syst. 2022 Jun;27(2):120-126. doi: 10.1111/jns.12485. Epub 2022 Mar 5. J Peripher Nerv Syst. 2022. PMID: 35224818
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ferguson JM, Pineda SS, Scriba CK, Tchan M, Fung V, Ng K, Cortese A, Houlden H, Dobson-Stone C, Fitzpatrick L, Halliday G, Ravenscroft G, Davis MR, Laing NG, Fellner A, Kennerson M, Kumar KR, Deveson IW. Stevanovski I, et al. Among authors: deveson iw. Sci Adv. 2022 Mar 4;8(9):eabm5386. doi: 10.1126/sciadv.abm5386. Epub 2022 Mar 4. Sci Adv. 2022. PMID: 35245110 Free PMC article.
69 results