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Research expertise keywords
- Molecular genetics
- Neurological disorders
- Neuromuscular disorders
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Collaborations and top research areas from the last five years
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Enhancing the detection of familial hypercholesterolaemia in general practice: A model for supporting genetic cascade testing in the community
Pang, J., Barnett, W., Purdie, J., Della-Vedova, J. A., Woodward, A., Bell, D. A., Hooper, A. J., Chan, D. C., Martin, A. C., Nowak, K. J., Garton-Smith, J. & Watts, G. F., 2026, In: European Journal of Human Genetics. 34, 2, p. 252-259 8 p.Research output: Contribution to journal › Article › peer-review
1 Link opens in a new tab Citation (Scopus) -
Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot
Lacaze, P., Tiller, J., Brotchie, A., Nguyen-Dumont, T., Steen, J., Belluoccio, D., Young, M.-A., Willis, A. M., Mitchell, L. A., Terrill, B., Nowak, K. J., Burns, B., Horton, A. E., Nicholls, S. J., Ademi, Z., Green, R. C., Manchanda, R., Thompson, B. A., Thomas, D. & Milne, R. L. & 19 others, , Jan 2026, In: Nature Health. 1, 1, p. 90-98Research output: Contribution to journal › Article › peer-review
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A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study
Balaji, L., Forbes, R., Cairns, A., Sampaio, H., Kornberg, A. J., Sanders, L., Lamont, P., Liang, C., Jones, K. J., Nowak, K., O'Gorman, C., Woodcock, I., Briggs, N., Yiu, E. M., Farrar, M. A. & Kariyawasam, D., Dec 2024, In: The Lancet Regional Health - Western Pacific. 53, 12 p., 101237.Research output: Contribution to journal › Article › peer-review
Open Access7 Link opens in a new tab Citations (Scopus) -
Combined population genomic screening for three high-risk conditions in Australia: a modelling study
Lacaze, P., Marquina, C., Tiller, J., Brotchie, A., Kang, Y. J., Merritt, M. A., Green, R. C., Watts, G. F., Nowak, K. J., Manchanda, R., Canfell, K., James, P., Winship, I., McNeil, J. J. & Ademi, Z., Dec 2023, In: EClinicalMedicine. 66, 15 p., 102297.Research output: Contribution to journal › Article › peer-review
Open Access13 Link opens in a new tab Citations (Scopus) -
FXR1-related congenital myopathy: Expansion of the clinical and genetic spectrum
Mroczek, M., Longman, C., Farrugia, M. E., Kapetanovic Garcia, S., Ardicli, D., Topaloglu, H., Hernández-Laín, A., Orhan, D., Alikasifoglu, M., Duff, J., Specht, S., Nowak, K., Ravenscroft, G., Chao, K., Valivullah, Z., Donkervoort, S., Saade, D., Bönnemann, C., Straub, V. & Yoon, G., 7 Apr 2022, In: Journal of Medical Genetics. 59, 11, p. 1069-1074 6 p., 108341.Research output: Contribution to journal › Article › peer-review
Open Access4 Link opens in a new tab Citations (Scopus)
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ARC Training Centre for Next-Gen Technologies in Biomedical Analysis
Swaminatha Iyer, I. (Investigator 01), Tilley, R. (Investigator 02), Gooding, J. (Investigator 03), Voelcker, N. (Investigator 04), Carneiro, G. (Investigator 05), Geddes, D. (Investigator 06), Wood, F. (Investigator 07), Bond, C. (Investigator 08), Elnathan, R. (Investigator 09), Kennedy, B. (Investigator 10), Bauer, D. (Investigator 11), Thirkettle-Watts, D. (Investigator 12), Smith, N. (Investigator 13), Nowak, K. (Investigator 14), Jiang, H. (Investigator 15), Stubbs, K. (Investigator 16), Taylor, N. (Investigator 17), Saxena, A. (Investigator 18), van Der Made, P. (Investigator 19) & Quick, A. (Investigator 20)
ARC Australian Research Council
1/06/22 → 28/03/27
Project: Research
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DNACancerScreen: A population genomic screening program in young adults to prevent cancer
Lacaze, P. (Investigator 01), McNeil, J. (Investigator 02), Zalcberg, J. (Investigator 03), Thomas, D. (Investigator 04), Milne, R. (Investigator 05), James, P. (Investigator 06), Delatycki, M. (Investigator 07), Young, M. A. (Investigator 08), Nowak, K. (Investigator 09) & Nguyen, T. (Investigator 10)
MRFF Medical Research Future Fund
1/06/21 → 31/05/26
Project: Research
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NHMRC Australian Genomics Grant Program
North, K. (Investigator 01), Berman, Y. (Investigator 02), Brown, A. (Investigator 03), Christodoulou, J. (Investigator 04), Dunwoodie, S. (Investigator 05), Gaff, C. (Investigator 06), Goranitis, I. (Investigator 07), Hofmann, O. (Investigator 08), Lyons, L. (Investigator 09), McGaughran, J. (Investigator 10), Murray, S. (Investigator 11), Newson, A. (Investigator 12), Nowak, K. (Investigator 13), Scott, H. (Investigator 14), Spurdle, A. (Investigator 15), Stark, Z. (Investigator 16), Tyrrell, V. (Investigator 17) & Ward, R. (Investigator 18)
NHMRC National Health and Medical Research Council
1/05/24 → 30/06/25
Project: Research
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Implementation of an optimised model of care for familial hypercholesterolaemia: role of primary care and its integration with specialist services
Pang, J. (Investigator 01), Moullin, J. (Investigator 02), Watts, G. (Investigator 03), Nowak, K. (Investigator 04), Garton-Smith, J. (Investigator 05), Della-Vedova, J. (Investigator 06) & Sarkies, M. (Investigator 07)
Royal Perth Hospital Medical Research Foundation
12/09/22 → 14/11/24
Project: Research
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Australian Genomics 2.0
Laing, N. (Investigator 01), Davis, M. (Investigator 02) & Nowak, K. (Investigator 03)
NHMRC National Health and Medical Research Council
1/01/21 → 31/03/24
Project: Research