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.

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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.

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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.

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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