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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
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.
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R, Bournazos AM, Bryen SJ, Bommireddipalli S, Marchant RG, Joshi H, Cooper ST.
Dawes R, et al. Among authors: bournazos am.
Nat Genet. 2023 Feb;55(2):324-332. doi: 10.1038/s41588-022-01293-8. Epub 2023 Feb 6.
Nat Genet. 2023.
PMID: 36747048
Free PMC article.
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Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice.
Yasa J, Reed CE, Bournazos AM, Evesson FJ, Pang I, Graham ME, Wark JR, Nijagal B, Kwan KH, Kwiatkowski T, Jung R, Weisleder N, Cooper ST, Lemckert FA.
Yasa J, et al. Among authors: bournazos am.
Acta Neuropathol Commun. 2023 Jan 18;11(1):15. doi: 10.1186/s40478-022-01473-x.
Acta Neuropathol Commun. 2023.
PMID: 36653852
Free PMC article.
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Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST.
Bryen SJ, et al. Among authors: bournazos am.
Hum Mutat. 2020 Feb;41(2):403-411. doi: 10.1002/humu.23938. Epub 2019 Dec 3.
Hum Mutat. 2020.
PMID: 31660661
Free PMC article.
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Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Van Bergen NJ, Gunanayagam K, Bournazos AM, Walvekar AS, Warmoes MO, Semcesen LN, Lunke S, Bommireddipalli S, Sikora T, Patraskaki M, Jones DL, Garza D, Sebire D, Gooley S, McLean CA, Naidoo P, Rajasekaran M, Stroud DA, Linster CL, Wallis M, Cooper ST, Christodoulou J.
Van Bergen NJ, et al. Among authors: bournazos am.
Int J Mol Sci. 2023 Feb 10;24(4):3582. doi: 10.3390/ijms24043582.
Int J Mol Sci. 2023.
PMID: 36834994
Free PMC article.
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Exoproteome Analysis of the Seaweed Pathogen Nautella italica R11 Reveals Temperature-Dependent Regulation of RTX-Like Proteins.
Gardiner M, Bournazos AM, Maturana-Martinez C, Zhong L, Egan S.
Gardiner M, et al. Among authors: bournazos am.
Front Microbiol. 2017 Jun 29;8:1203. doi: 10.3389/fmicb.2017.01203. eCollection 2017.
Front Microbiol. 2017.
PMID: 28706511
Free PMC article.
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