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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: tchan mc. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
DHDDS and NUS1: A Converging Pathway and Common Phenotype.
Williams LJ, Waller S, Qiu J, Innes E, Elserafy N, Procopis P, Sampaio H, Mahant N, Tchan MC, Mohammad SS, Morales-Briceño H, Fung VSC. Williams LJ, et al. Among authors: tchan mc. Mov Disord Clin Pract. 2024 Jan;11(1):76-85. doi: 10.1002/mdc3.13920. Epub 2023 Nov 28. Mov Disord Clin Pract. 2024. PMID: 38291835 Review.
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. 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.
Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Fellner A, Wali GM, Mahant N, Grosz BR, Ellis M, Narayanan RK, Ng K, Davis RL, Tchan MC, Kotschet K, Yeow D, Rudaks LI, Siow SF, Wali G, Yiannikas C, Hobbs M, Copty J, Geaghan M, Darveniza P, Liang C, Williams LJ, Chang FCF, Morales-Briceño H, Tisch S, Hayes M, Whyte S, Kummerfeld S, Kennerson ML, Cowley MJ, Fung VSC, Sue CM, Kumar KR. Fellner A, et al. Among authors: tchan mc. Parkinsonism Relat Disord. 2024 May 14;124:107010. doi: 10.1016/j.parkreldis.2024.107010. Online ahead of print. Parkinsonism Relat Disord. 2024. PMID: 38772265
49 results