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Germline pathogenic SMARCA4 variants in neuroblastoma.
Witkowski L, Nichols KE, Jongmans M, van Engelen N, de Krijger RR, Herrera-Mullar J, Tytgat L, Bahrami A, Mar Fan H, Davidson AL, Robertson T, Anderson M, Hasselblatt M, Plon SE, Foulkes WD. Witkowski L, et al. Among authors: robertson t. J Med Genet. 2023 Oct;60(10):987-992. doi: 10.1136/jmg-2022-108854. Epub 2023 Feb 22. J Med Genet. 2023. PMID: 36813544
SMARCA4-associated schwannomatosis.
Chan-Pak-Choon F, Roca C, Chong AS, Nogué C, Dahlum S, Austin R, Mar Fan H, van Spaendonck-Zwarts KY, Lambie NK, Robertson T, Siebert R, Rivera B, Foulkes WD. Chan-Pak-Choon F, et al. Among authors: robertson t. Acta Neuropathol. 2023 Apr;145(4):505-507. doi: 10.1007/s00401-023-02546-4. Epub 2023 Feb 14. Acta Neuropathol. 2023. PMID: 36786840 No abstract available.
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF. Corbett MA, et al. Among authors: robertson t. Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549339 Free PMC article.
Digitalization of toxicology: improving preclinical to clinical translation.
Berridge BR, Baran SW, Kumar V, Bratcher-Petersen N, Ellis M, Liu CN, Robertson TL. Berridge BR, et al. Among authors: robertson tl. Front Toxicol. 2024 Mar 28;6:1377542. doi: 10.3389/ftox.2024.1377542. eCollection 2024. Front Toxicol. 2024. PMID: 38605940 Free PMC article.
623 results