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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: kumar kr. 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
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Kumar KR, Cortese A, Tomlinson SE, Efthymiou S, Ellis M, Zhu D, Stoll M, Dominik N, Tisch S, Tchan M, Wu KHC, Devery S, Spring PJ, Hawke S, Cremer P, Ng K, Reilly MM, Nicholson GA, Houlden H, Kennerson M. Kumar KR, et al. Brain. 2020 Oct 1;143(10):e82. doi: 10.1093/brain/awaa244. Brain. 2020. PMID: 32949124 Free PMC article. No abstract available.
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: kumar kr. 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.
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Grosz BR, Tisch S, Tchan MC, Fung VSC, Darveniza P, Fellner A, Kurian MA, McLean A, Tomlinson SE, Smyth R, Devery S, Wu KHC, Kennerson ML, Kumar KR. Grosz BR, et al. Among authors: kumar kr. Mol Genet Genomic Med. 2022 May;10(5):e1923. doi: 10.1002/mgg3.1923. Epub 2022 Mar 16. Mol Genet Genomic Med. 2022. PMID: 35293157 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: kumar kr. 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.
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
Lange LM, Avenali M, Ellis M, Illarionova A, Keller Sarmiento IJ, Tan AH, Madoev H, Galandra C, Junker J, Roopnarain K, Solle J, Wegel C, Fang ZH, Heutink P, Kumar KR, Lim SY, Valente EM, Nalls M, Blauwendraat C, Singleton A, Mencacci N, Lohmann K, Klein C; Global Parkinson’s Genetic Program (GP2). Lange LM, et al. Among authors: kumar kr. NPJ Parkinsons Dis. 2023 Jun 27;9(1):100. doi: 10.1038/s41531-023-00526-9. NPJ Parkinsons Dis. 2023. PMID: 37369645 Free PMC article.
304 results