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Page 1
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia.
Demetriou K, Nisbet J, Coman D, Ewing AD, Phillips L, Smith S, Lipke M, Inwood A, Spicer J, Atthow C, Wilgen U, Robertson T, McWhinney A, Swenson R, Espley B, Snowdon B, McGill JJ, Summers KM. Demetriou K, et al. Among authors: robertson t. Mol Genet Metab. 2024 Aug;142(4):108516. doi: 10.1016/j.ymgme.2024.108516. Epub 2024 Jun 17. Mol Genet Metab. 2024. PMID: 38941880 Free article.
Author Correction: 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: robertson t. Nat Commun. 2024 Oct 17;15(1):8955. doi: 10.1038/s41467-024-53151-2. Nat Commun. 2024. PMID: 39419991 Free PMC article. No abstract available.
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: robertson t. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. Nat Commun. 2024. PMID: 39068203 Free PMC article.
Implementation of DNA Methylation Array Profiling in Pediatric Central Nervous System Tumors: The AIM BRAIN Project: An Australian and New Zealand Children's Haematology/Oncology Group Study.
White CL, Kinross KM, Moore MK, Rasouli E, Strong R, Jones JM, Cain JE, Sturm D, Sahm F, Jones DTW, Pfister SM, Robertson T, D'Arcy C, Rodriguez ML, Dyke JM, Junckerstorff R, Bhuva DD, Davis MJ, Wood P, Hassall T, Ziegler DS, Kellie S, McCowage G, Alvaro F, Kirby M, Heath JA, Tsui K, Dodgshun A, Eisenstat DD, Khuong-Quang DA, Wall M, Algar EM, Gottardo NG, Hansford JR. White CL, et al. Among authors: robertson t. J Mol Diagn. 2023 Oct;25(10):709-728. doi: 10.1016/j.jmoldx.2023.06.013. Epub 2023 Jul 28. J Mol Diagn. 2023. PMID: 37517472 Free article. Clinical Trial.
645 results