Amanda Springer

Research output

Research output per year 2020 2020 2022 2022

• 4 Article

Research output per year

Research output per year

Search results

• 2022

  Ethylmalonic encephalopathy masquerading as meningococcemia

  Horton, A., Hong, K. M., Pandithan, D., Allen, M., Killick, C., Goergen, S., Springer, A., Phelan, D., Marty, M., Halligan, R., Lee, J., Pitt, J., Chong, B., Christodoulou, J., Lunke, S., Stark, Z. & Fahey, M., 1 Feb 2022, In: Cold Spring Harbor Molecular Case Studies. 8, 2, 14 p., a006193.

  Research output: Contribution to journal › Article › Research › peer-review

  Open Access
  2 Citations (Scopus)

• Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

  Bournazos, A. M., Riley, L. G., Bommireddipalli, S., Ades, L., Akesson, L. S., Al-Shinnag, M., Alexander, S. I., Archibald, A. D., Balasubramaniam, S., Berman, Y., Beshay, V., Boggs, K., Bojadzieva, J., Brown, N. J., Bryen, S. J., Buckley, M. F., Chong, B., Davis, M. R., Dawes, R., Delatycki, M., & 90 othersDonaldson, L., Downie, L., Edwards, C., Edwards, M., Engel, A., Ewans, L. J., Faiz, F., Fennell, A., Field, M., Freckmann, M. L., Gallacher, L., Gear, R., Goel, H., Goh, S., Goodwin, L., Hanna, B., Harraway, J., Higgins, M., Ho, G., Hopper, B. K., Horton, A. E., Hunter, M. F., Huq, A. J., Josephi-Taylor, S., Joshi, H., Kirk, E., Krzesinski, E., Kumar, K. R., Lemckert, F., Leventer, R. J., Lindsey-Temple, S. E., Lunke, S., Ma, A., Macaskill, S., Mallawaarachchi, A., Marty, M., Marum, J. E., McCarthy, H. J., Menezes, M. P., McLean, A., Milnes, D., Mohammad, S., Mowat, D., Niaz, A., Palmer, E. E., Patel, C., Patel, S. G., Phelan, D., Pinner, J. R., Rajagopalan, S., Regan, M., Rodgers, J., Rodrigues, M., Roxburgh, R. H., Sachdev, R., Roscioli, T., Samarasekera, R., Sandaradura, S. A., Savva, E., Schindler, T., Shah, M., Sinnerbrink, I. B., Smith, J. M., Smith, R. J., Springer, A., Stark, Z., Strom, S. P., Sue, C. M., Tan, K., Tan, T. Y., Tantsis, E., Tchan, M. C., Thompson, B. A., Trainer, A. H., van Spaendonck-Zwarts, K., Walsh, R., Warwick, L., White, S., White, S. M., Williams, M. G., Wilson, M. J., Wong, W. K., Wright, D. C., Yap, P., Yeung, A., Young, H., Jones, K. J., Bennetts, B., Cooper, S. T. & on behalf of the Australasian Consortium for RNA Diagnostics, Jan 2022, In: Genetics in Medicine. 24, 1, p. 130-145 16 p.

  Research output: Contribution to journal › Article › Research › peer-review
  27 Citations (Scopus)
• 2020

  Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System

  Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., De Silva, M. G., Brett, G. R., Boggs, K., Mowat, D., Kirk, E. P., Adès, L. C., Akesson, L. S., Amor, D. J., Ayres, S., Baxendale, A., Borrie, S., & 46 othersBray, A., Brown, N. J., Chan, C. Y., Chong, B., Cliffe, C., Delatycki, M. B., Edwards, M., Elakis, G., Fahey, M. C., Fennell, A., Fowles, L., Gallacher, L., Higgins, M., Howell, K. B., Hunt, L., Hunter, M. F., Jones, K. J., King, S., Kumble, S., Lang, S., Le Moing, M., Ma, A., Phelan, D., Quinn, M. C. J., Richards, A., Richmond, C. M., Riseley, J., Rodgers, J., Sachdev, R., Sadedin, S., Schlapbach, L. J., Smith, J., Springer, A., Tan, N. B., Tan, T. Y., Temple, S. L., Theda, C., Vasudevan, A., White, S. M., Yeung, A., Zhu, Y., Martyn, M., Best, S., Roscioli, T., Christodoulou, J. & Stark, Z., 23 Jun 2020, In: JAMA. 323, 24, p. 2503-2511 9 p.

  Research output: Contribution to journal › Article › Research › peer-review
  126 Citations (Scopus)

• Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

  Akesson, L. S., Bournazos, A., Fennell, A., Krzesinski, E. I., Tan, K., Springer, A., Rose, K., Goranitis, I., Francis, D., Lee, C., Faiz, F., Davis, M. R., Christodoulou, J., Lunke, S., Stark, Z., Hunter, M. F. & Cooper, S. T., Nov 2020, In: Human Mutation. 41, 11, p. 1884-1891 8 p.

  Research output: Contribution to journal › Article › Research › peer-review
  6 Citations (Scopus)