Amanda Springer
Amanda Springer
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
- Boggs, K, Lynch, F, Ward, M, Bouffler, SE, Ayres, S, Forbes, R, Springer, A, de Silva, MG, Lynch, E, Gallacher, L, et al. Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.. Genet Med Open 2(Suppl 2) : 101878 2024 view publication
- Lunke, S, Bouffler, SE, Patel, CV, Sandaradura, SA, Wilson, M, Pinner, J, Hunter, MF, Barnett, CP, Wallis, M, Kamien, B, et al. Integrated multi-omics for rapid rare disease diagnosis on a national scale.. Nat Med 29(7) : 1681 -1691 2023 view publication
- Brett, GR, Ward, A, Bouffler, SE, Palmer, EE, Boggs, K, Lynch, F, Springer, A, Nisselle, A, Stark, Z. Co-design, implementation, and evaluation of plain language genomic test reports.. NPJ Genom Med 7(1) : 61 2022 view publication
- Horton, A, Hong, KM, Pandithan, D, Allen, M, Killick, C, Goergen, S, Springer, A, Phelan, D, Marty, M, Halligan, R, et al. Ethylmalonic encephalopathy masquerading as meningococcemia.. Cold Spring Harb Mol Case Stud 8(2) : 2022 view publication
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