Research output per year
Research output 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):
Research expertise keywords
- Molecular genetics
- Neurological disorders
- Neuromuscular disorders
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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 Access1 Citation (Scopus) -
Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene
Clayton, J. S., Suleski, I., Vo, C., Smith, R., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Houweling, P. J., Nowak, K. J., Ravenscroft, G., Laing, N. G. & Taylor, R. L., Aug 2022, In: Stem Cell Research. 63, 102829.Research output: Contribution to journal › Article › peer-review
Open Access -
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene
Suleski, I. S., Smith, R., Vo, C., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Houweling, P. J., Nowak, K. J., Laing, N. G., Taylor, R. L. & Clayton, J. S., Aug 2022, In: Stem Cell Research. 63, 102830.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Pilot study of universal screening of children and child‐parent cascade testing for familial hypercholesterolaemia in Australia
Martin, A. C., Hooper, A. J., Norman, R., Nguyen, L. T., Burnett, J. R., Bell, D. A., Brett, T., Garton‐smith, J., Pang, J., Nowak, K. J. & Watts, G. F., Feb 2022, In: Journal of Paediatrics and Child Health. 58, 2, p. 281-287 7 p.Research output: Contribution to journal › Article › peer-review
5 Citations (Scopus) -
Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene
Clayton, J. S., Scriba, C. K., Romero, N. B., Malfatti, E., Saker, S., Larmonier, T., Nowak, K. J., Ravenscroft, G., Laing, N. G. & Taylor, R. L., Aug 2021, In: Stem Cell Research. 55, 102482.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus)
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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., Moullin, J., Watts, G., Nowak, K., Garton-Smith, J., Della-Vedova, J. & Sarkies, M.
12/09/22 → 12/09/24
Project: Research
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ARC Training Centre for Next-Gen Technologies in Biomedical Analysis
Swaminatha Iyer, K., Tilley, R., Gooding, J., Voelcker, N., Carneiro, G., Geddes, D., Wood, F., Bond, C., Elnathan, R., Kennedy, B., Bauer, D., Thirkettle-Watts, D., Smith, N., Nowak, K., Jiang, H., Stubbs, K., Taylor, N., Saxena, A., van Der Made, P. & Quick, A.
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., McNeil, J., Zalcberg, J., Thomas, D., Milne, R., James, P., Delatycki, M., Young, M. A., Nowak, K. & Nguyen, T.
Medical Research Future Fund MRFF
1/06/21 → 31/05/25
Project: Research
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Australian Genomics 2.0
Laing, N., Davis, M. & Nowak, K.
National Health & Medical Research Council NHMRC
1/01/21 → 31/12/23
Project: Research