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Page 1
A universal molecular control for DNA, mRNA and protein expression.
Gunter HM, Youlten SE, Reis ALM, McCubbin T, Madala BS, Wong T, Stevanovski I, Cipponi A, Deveson IW, Santini NS, Kummerfeld S, Croucher PI, Marcellin E, Mercer TR. Gunter HM, et al. Among authors: stevanovski i. Nat Commun. 2024 Mar 20;15(1):2480. doi: 10.1038/s41467-024-46456-9. Nat Commun. 2024. PMID: 38509097 Free PMC article.
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
El-Wahsh S, Fellner A, Hobbs M, Copty J, Deveson I, Stevanovski I, Stoll M, Zhu D, Narayanan RK, Grosz B, Worgan L, Cheong PL, Yeow D, Rudaks L, Hasan MM, Hayes VM, Kennerson M, Kumar KR, Hayes M. El-Wahsh S, et al. Among authors: stevanovski i. Mov Disord Clin Pract. 2024 May;11(5):582-585. doi: 10.1002/mdc3.14023. Epub 2024 Mar 18. Mov Disord Clin Pract. 2024. PMID: 38497520 Free PMC article. No abstract available.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado LA, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans LJ, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T. Dias KR, et al. Among authors: stevanovski i. Genet Med. 2024 May;26(5):101076. doi: 10.1016/j.gim.2024.101076. Epub 2024 Jan 19. Genet Med. 2024. PMID: 38258669
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: stevanovski i. 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: stevanovski i. Brain Commun. 2023 Jul 25;5(4):fcad208. doi: 10.1093/braincomms/fcad208. eCollection 2023. Brain Commun. 2023. PMID: 37621409 Free PMC article.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: stevanovski i. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
Hort Y, Sullivan P, Wedd L, Fowles L, Stevanovski I, Deveson I, Simons C, Mallett A, Patel C, Furlong T, Cowley MJ, Shine J, Mallawaarachchi A. Hort Y, et al. Among authors: stevanovski i. NPJ Genom Med. 2023 Jul 7;8(1):16. doi: 10.1038/s41525-023-00362-z. NPJ Genom Med. 2023. PMID: 37419908 Free PMC article.
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.
Folland C, Ganesh V, Weisburd B, McLean C, Kornberg AJ, O'Donnell-Luria A, Rehm HL, Stevanovski I, Chintalaphani SR, Kennedy P, Deveson IW, Ravenscroft G. Folland C, et al. Among authors: stevanovski i. Neurol Genet. 2023 Mar 14;9(2):e200064. doi: 10.1212/NXG.0000000000200064. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090938 Free PMC article.
NOTCH2NLC GGC Repeat Expansion Presenting as Adult-Onset Cervical Dystonia.
Williams LJ, Qiu J, Ong TL, Deveson IW, Stevanovski I, Chintalaphani SR, Fellner A, Varikatt W, Morales-Briceno H, Tchan M, Kumar KR, Fung VSC. Williams LJ, et al. Among authors: stevanovski i. Mov Disord Clin Pract. 2023 Feb 15;10(4):704-706. doi: 10.1002/mdc3.13677. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070059 Free PMC article. No abstract available.
20 results