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Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being


Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
  • 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 journalArticleResearchpeer-review

    Open Access
  • 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 journalArticleResearchpeer-review

    20 Citations (Scopus)
  • 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 journalArticleResearchpeer-review

    110 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 journalArticleResearchpeer-review

    6 Citations (Scopus)