Sophie Bouffler
Sophie Bouffler
Top Publications
- Brett, G, Ward, A, Bouffler, S, Palmer, E, Boggs, K, Lynch, F, Springer, A, Nisselle, A, Stark, Z. Co-design, implementation, and evaluation of plain language genomic test reports. 2026 view publication
- Stark, Z, Lunke, S, Downie, L, Caruana, J, Kugenthiran, N, De Fazio, P, Hollizeck, S, Bouffler, S, Amor, D, Archibald, A, et al. Genomic newborn screening: feasibility, acceptability and clinical outcomes. 2026 view publication
- Downie, L, Caruana, J, Kugenthiran, N, Kanga-Parabia, A, Tutty, E, Bombard, Y, Clausen, M, Bouffler, S, Gaff, C, Archibald, AD, et al. Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study. 2026 view publication
- Lunke, S, Downie, L, Caruana, J, Kugenthiran, N, De Fazio, P, Hollizeck, S, Bouffler, SE, Amor, DJ, Archibald, AD, Bombard, Y, et al. Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.. Nat Med 31(12) : 4236 -4245 2025 view publication
- Martyn, M, Lee, L, Jan, A, Tytherleigh, R, Lynch, F, Mighton, C, Bouffler, SE, Lynch, E, Macciocca, I, Curnow, L, et al. Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.. Genet Med 27(2) : 101327 2025 view publication
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