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Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.
Neurol Genet. 2023 Mar 14;9(2):e200064. doi: 10.1212/NXG.0000000000200064. eCollection 2023 Apr.
Neurol Genet. 2023.
PMID: 37090938
Free PMC article.
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
Chintalaphani SR, Pineda SS, Deveson IW, Kumar KR.
Chintalaphani SR, et al.
Acta Neuropathol Commun. 2021 May 25;9(1):98. doi: 10.1186/s40478-021-01201-x.
Acta Neuropathol Commun. 2021.
PMID: 34034831
Free PMC article.
Review.
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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: chintalaphani sr.
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.
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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G.
Cortese A, et al. Among authors: chintalaphani sr.
Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2.
Nat Commun. 2024.
PMID: 39068203
Free PMC article.
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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: chintalaphani sr.
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.
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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: chintalaphani sr.
Brain Commun. 2023 Jul 25;5(4):fcad208. doi: 10.1093/braincomms/fcad208. eCollection 2023.
Brain Commun. 2023.
PMID: 37621409
Free PMC article.
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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: chintalaphani sr.
Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240.
Brain. 2023.
PMID: 37450567
Free PMC article.
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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: chintalaphani sr.
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.
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