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Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
Rudaks LI, Stevanovski I, Yeow D, Reis ALM, Chintalaphani SR, Cheong PL, Gamaarachchi H, Worgan L, Ahmad K, Hayes M, Hannaford A, Kim S, Fung VSC, Halmagyi GM, Martin A, Manser D, Tchan M, Ng K, Kennerson ML, Deveson IW, Kumar KR. Rudaks LI, et al. Among authors: halmagyi gm. Ann Clin Transl Neurol. 2025 Apr;12(4):832-841. doi: 10.1002/acn3.70008. Epub 2025 Feb 25. Ann Clin Transl Neurol. 2025. PMID: 40007153 Free PMC article.
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
Rafehi H, Fearnley LG, Read J, Snell P, Davies KC, Scott L, Gillies G, Thompson GC, Field TA, Eldo A, Bodek S, Butler E, Chen L, Drago J, Goel H, Hackett A, Halmagyi GM, Hannaford A, Kotschet K, Kumar KR, Kumble S, Lee-Archer M, Malhotra A, Paine M, Poon M, Pope K, Reardon K, Ring S, Ronan A, Silsby M, Smyth R, Stutterd C, Wallis M, Waterston J, Wellings T, West K, Wools C, Wu KHC, Szmulewicz DJ, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: halmagyi gm. Genome Res. 2025 Apr 14;35(4):769-785. doi: 10.1101/gr.279634.124. Genome Res. 2025. PMID: 40015980
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.
Davies KC, Rafehi H, Fearnley LG, Snell P, Gillies G, Field TA, Halmágyi GM, Kumar KR, Pope K, Smyth R, Tomlinson SE, Tisch S, Tang CC, Watson SRD, Wellings T, Wu KHC, Szmulewicz DJ, Delatycki MB, Bahlo M, Lockhart PJ. Davies KC, et al. Among authors: halmagyi gm. Cerebellum. 2025 Jun 7;24(4):111. doi: 10.1007/s12311-025-01867-2. Cerebellum. 2025. PMID: 40481300
329 results