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Year Number of Results
2018 1
2019 1
2020 4
2022 4
2023 6
2024 3

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18 results

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Page 1
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: gamaarachchi h. 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.
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. 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.
Accelerated nanopore basecalling with SLOW5 data format.
Samarakoon H, Ferguson JM, Gamaarachchi H, Deveson IW. Samarakoon H, et al. Among authors: gamaarachchi h. Bioinformatics. 2023 Jun 1;39(6):btad352. doi: 10.1093/bioinformatics/btad352. Bioinformatics. 2023. PMID: 37252813 Free PMC article.
The landscape of genomic structural variation in Indigenous Australians.
Reis ALM, Rapadas M, Hammond JM, Gamaarachchi H, Stevanovski I, Ayuputeri Kumaheri M, Chintalaphani SR, Dissanayake DSB, Siggs OM, Hewitt AW, Llamas B, Brown A, Baynam G, Mann GJ, McMorran BJ, Easteal S, Hermes A, Jenkins MR; National Centre for Indigenous Genomics; Patel HR, Deveson IW. Reis ALM, et al. Among authors: gamaarachchi h. Nature. 2023 Dec;624(7992):602-610. doi: 10.1038/s41586-023-06842-7. Epub 2023 Dec 13. Nature. 2023. PMID: 38093003 Free PMC article.
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: gamaarachchi h. Brain Commun. 2023 Jul 25;5(4):fcad208. doi: 10.1093/braincomms/fcad208. eCollection 2023. Brain Commun. 2023. PMID: 37621409 Free PMC article.
Streamlining remote nanopore data access with slow5curl.
Wong B, Ferguson JM, Do JY, Gamaarachchi H, Deveson IW. Wong B, et al. Among authors: gamaarachchi h. Gigascience. 2024 Jan 2;13:giae016. doi: 10.1093/gigascience/giae016. Gigascience. 2024. PMID: 38608279 Free PMC article.
Extensive DNA methylome rearrangement during early lamprey embryogenesis.
Angeloni A, Fissette S, Kaya D, Hammond JM, Gamaarachchi H, Deveson IW, Klose RJ, Li W, Zhang X, Bogdanovic O. Angeloni A, et al. Among authors: gamaarachchi h. Nat Commun. 2024 Mar 4;15(1):1977. doi: 10.1038/s41467-024-46085-2. Nat Commun. 2024. PMID: 38438347 Free PMC article.
18 results