Projects per year
Personal profile
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):
Collaborations and top research areas from the last five years
Projects
- 2 Active
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MitoHOPE: Introducing Mitochondrial Donation in AustraliaL The MitoHOPE (Healthy Outcomes Pilot and Evaluation) Program
Carroll, J., Herbert, M., Christodoulou, J., Thorburn, D. R., Mills, C., Zander-Fox, D. L., Robker, R., Rombauts, L., Sallevelt, S., Ludlow, K., Coman, D. J., Ellaway, C. J., Mackey, D. A., Delatycki, M. B., Yau, W. Y., Tchan, M. C., Long, J. C., Hardy, T., Adhikari, D., Choudhary, M., Hyslop, L. A., Mann, J., Ryan, M., Hodges, R., Hui, L., Kamien, B. A., Mallett, A. J., Semsarian, C., Wallis, M. J., Wall, M., Zoungas, S., Goranitis, I., Gyngell, C., Hammarberg, K., Sparrow, R., Warren, N., Fahey, M., Stutterd, C. A., Schweitzer, D., McGillivray, G., Savulescu, J., Panetta, J., Kava, M. P., Freckmann, M., Lynch, M., Lamont, P. J., Scott, R., Ware, T., Mowat, D., Jones, K. J., Green, S., Wolfe, R., Hackett, A., Bratkovic, D., Horton, A. & Blok, R.
Monash University – Internal Faculty Contribution, Australian Genomics, Centenary Institute of Cancer Medicine & Cell Biology, James Cook University, Lyons Eye Institute Limited, Macquarie University, Murdoch Children's Research Institute, Australian Mitochondrial Disease Foundation Limited (trading as Mito Foundation), Monash IVF Group Limited, Perron Institute for Neurological and Translational Science Limited, Queensland Children's Hospital, Tasmanian Clinical Genetics Service, University of Adelaide, Victorian Assisted Reproductive Treatment Authority (VARTA) (Victoria), Women's and Children's Health Care Network Incorporated, Western Sydney Local Health District (WSLHD)
1/06/23 → 31/05/28
Project: Research
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Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public
Tiller, J. M., Stott, A., Finlay, K., Boughtwood, T., Madelli, E. O., Horton, A., Winship, I., Nowak, K. & Otlowski, M., Jan 2024, In: European Journal of Human Genetics. 32, 1, p. 98-108 11 p.Research output: Contribution to journal › Article › Research › peer-review
Open Access10 Citations (Scopus) -
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 Access3 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 others , Jan 2022, In: Genetics in Medicine. 24, 1, p. 130-145 16 p.Research output: Contribution to journal › Article › Research › peer-review
52 Citations (Scopus) -
Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians
Watts, G. F., Sullivan, D. R., Hare, D. L., Kostner, K. M., Horton, A. E., Bell, D. A., Brett, T., Trent, R. J., Poplawski, N. K., Martin, A. C., Srinivasan, S., Justo, R. N., Chow, C. K., Pang, J. & and members of the FH Australasia Network Consensus Working Group, May 2021, In: Internal Medicine Journal. 51, 5, p. 769-779 11 p.Research output: Contribution to journal › Article › Other › peer-review
6 Citations (Scopus) -
Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia
Watts, G. F., Sullivan, D. R., Hare, D. L., Kostner, K. M., Horton, A. E., Bell, D. A., Brett, T., Trent, R. J., Poplawski, N. K., Martin, A. C., Srinivasan, S., Justo, R. N., Chow, C. K., Pang, J. & FH Australasia Network Consensus Working Group, 1 Mar 2021, In: Heart Lung and Circulation. 30, 3, p. P324-349 26 p.Research output: Contribution to journal › Letter › Other › peer-review
Open Access78 Citations (Scopus)