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Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8.
Nat Med. 2023.
PMID: 37291213
Free PMC article.
Co-design, implementation, and evaluation of plain language genomic test reports.
Brett GR, Ward A, Bouffler SE, Palmer EE, Boggs K, Lynch F, Springer A, Nisselle A, Stark Z.
Brett GR, et al. Among authors: bouffler se.
NPJ Genom Med. 2022 Oct 22;7(1):61. doi: 10.1038/s41525-022-00332-x.
NPJ Genom Med. 2022.
PMID: 36272999
Free PMC article.
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Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
Bouffler SE, Lee L, Lynch F, Martyn M, Lynch E, Macciocca I, Curnow L, McCorkell G, Lunke S, Chong B, Marum JE, Delatycki M, Downie L, Goranitis I, Vears DF, Best S, Clausen M, Bombard Y, Stark Z, Gaff CL.
Bouffler SE, et al.
BMJ Open. 2023 Jun 2;13(6):e072999. doi: 10.1136/bmjopen-2023-072999.
BMJ Open. 2023.
PMID: 37270192
Free PMC article.
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Gene selection for genomic newborn screening: Moving toward consensus?
Downie L, Bouffler SE, Amor DJ, Christodoulou J, Yeung A, Horton AE, Macciocca I, Archibald AD, Wall M, Caruana J, Lunke S, Stark Z.
Downie L, et al. Among authors: bouffler se.
Genet Med. 2024 May;26(5):101077. doi: 10.1016/j.gim.2024.101077. Epub 2024 Jan 23.
Genet Med. 2024.
PMID: 38275146
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Eliciting parental preferences and values for the return of additional findings from genomic sequencing.
Goranitis I, Meng Y, Martyn M, Best S, Bouffler S, Bombard Y, Gaff C, Stark Z.
Goranitis I, et al.
NPJ Genom Med. 2024 Feb 14;9(1):10. doi: 10.1038/s41525-024-00399-8.
NPJ Genom Med. 2024.
PMID: 38355752
Free PMC article.
Item in Clipboard
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.
Lunke S, Bouffler SE, Downie L, Caruana J, Amor DJ, Archibald A, Bombard Y, Christodoulou J, Clausen M, De Fazio P, Greaves RF, Hollizeck S, Kanga-Parabia A, Lang N, Lynch F, Peters R, Sadedin S, Tutty E, Eggers S, Lee C, Wall M, Yeung A, Gaff C, Gyngell C, Vears DF, Best S, Goranitis I, Stark Z.
Lunke S, et al. Among authors: bouffler se.
BMJ Open. 2024 Apr 3;14(4):e081426. doi: 10.1136/bmjopen-2023-081426.
BMJ Open. 2024.
PMID: 38569677
Free article.
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The Emerging Role of Neutrophil Granulocytes in Multiple Sclerosis.
Woodberry T, Bouffler SE, Wilson AS, Buckland RL, Brüstle A.
Woodberry T, et al. Among authors: bouffler se.
J Clin Med. 2018 Dec 3;7(12):511. doi: 10.3390/jcm7120511.
J Clin Med. 2018.
PMID: 30513926
Free PMC article.
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