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Page 1
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 PMC article.
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.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Among authors: bouffler se. 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.
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
A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability.
McCorkell G, Nisselle A, Halton D, Bouffler SE, Patel C, Christodoulou J, Maher F, McClaren B, Brett GR, Sandaradura S, Boggs K, de Silva MG, Lynch F, Macciocca I, Lynch E, Martyn M, Best S, Stark Z, Gaff CL. McCorkell G, et al. Among authors: bouffler se. Genet Med. 2024 Oct;26(10):101224. doi: 10.1016/j.gim.2024.101224. Epub 2024 Jul 30. Genet Med. 2024. PMID: 39092589 Free article.
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Ball M, Bouffler SE, Barnett CB, Freckmann ML, Hunter MF, Kamien B, Kassahn KS, Lunke S, Patel CV, Pinner J, Roscioli T, Sandaradura SA, Scott HS, Tan TY, Wallis M, Compton AG, Thorburn DR, Stark Z, Christodoulou J. Ball M, et al. Among authors: bouffler se. Genet Med. 2024 Oct 15;27(1):101293. doi: 10.1016/j.gim.2024.101293. Online ahead of print. Genet Med. 2024. PMID: 39417332
Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.
Martyn M, Lee L, Jan A, Tytherleigh R, Lynch F, Mighton C, Bouffler SE, Lynch E, Macciocca I, Curnow L, McCorkell G, Lunke S, Chong B, Delatycki MB, Downie L, Vears D, Best S, Clausen M, Bombard Y, Stark Z, Gaff C. Martyn M, et al. Among authors: bouffler se. Genet Med. 2024 Nov 14;27(2):101327. doi: 10.1016/j.gim.2024.101327. Online ahead of print. Genet Med. 2024. PMID: 39548854 Free article.
11 results