Research output per year
Research output per year
Personal profile
Research expertise keywords
- Molecular genetics
- Neurological disorders
- Neuromuscular disorders
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Dive into the research topics where Kristen Nowak is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
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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., 2022, (E-pub ahead of print) In: Journal of Medical Genetics. 108341.Research output: Contribution to journal › Article › peer-review
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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 Access -
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
2 Citations (Web of Science) -
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 Access
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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 → 31/05/26
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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Improving myosin function to treat nemaline myopathy
A Foundation Building Strength Inc
1/01/18 → 31/12/19
Project: Research