20202022

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  • 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 journalArticleResearchpeer-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 journalArticleResearchpeer-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 journalArticleResearchpeer-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 journalArticleResearchpeer-review

    6 Citations (Scopus)