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Publications: Nowak, Kristen

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Number of items: 19.

2020

Clayton, J.S., McNamara, E.L., Goullee, H., Conijn, S., Muthsam, K., Musk, G.C., Coote, D., Kijas, J., Testa, A.C., Taylor, R.L., O’Hara, A.J., Groth, D., Ottenheijm, C., Ravenscroft, G., Laing, N.G. and Nowak, K.J. (2020) Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. Acta Neuropathologica Communications, 8 (1). Art. 142.

2019

Bilkey, G.A., Burns, B.L., Coles, E.P., Bowman, F.L., Beilby, J.P., Pachter, N.S., Baynam, G., Dawkins, H.J.S., Nowak, K.J. and Weeramanthri, T.S. (2019) Genomic testing for human health and disease across the life cycle: Applications and ethical, legal, and social challenges. Frontiers in Public Health, 7 .

Burns, B.L., Bilkey, G.A., Coles, E.P., Bowman, F.L., Beilby, J.P., Pachter, N.S., Baynam, G., Dawkins, H.J.S., Weeramanthri, T.S. and Nowak, K.J. (2019) Healthcare system priorities for successful integration of genomics: An Australian focus. Frontiers in Public Health, 7 .

2018

Coote, D.J., Davis, M.R., Cabrera, M., Needham, M., Laing, N.G. and Nowak, K.J. (2018) CUGC for Duchenne muscular dystrophy (DMD). European Journal of Human Genetics, 26 (5). pp. 749-757.

Coote, D.J., Davis, M.R., Cabrera, M., Needham, M., Laing, N.G. and Nowak, K.J. (2018) Clinical Utility Gene Card for: Autosomal dominant myotonia congenita (Thomsen Disease). European Journal of Human Genetics, 26 . pp. 1072-1077.

Coote, D., Davis, M.R., Cabrera, M., Needham, M., Laing, N.G. and Nowak, K.J. (2018) Clinical Utility Gene Card for: Becker muscular dystrophy. European Journal of Human Genetics, 26 . pp. 1065-1071.

Nowak, K.J., Bauskis, A., Dawkins, H.J. and Baynam, G. (2018) Incidental inequity. European Journal of Human Genetics, 26 . pp. 616-617.

Molster, C.M., Bowman, F.L., Bilkey, G.A., Cho, A.S., Burns, B.L., Nowak, K.J. and Dawkins, H.J.S. (2018) The evolution of public health genomics: Exploring its past, present, and future. Frontiers in Public Health, 6 .

2013

Supreme, J., Laing, N.G., Carter, K. and Nowak, K. (2013) Identifying the genetic cause of an internationally unique, naturally occurring muscular dystrophy in western australian merino sheep. Journal of the Royal Society of Western Australia, 96 (2). p. 73.

2011

Sambuughin, N., Yau, K.S., Olivé, M., Duff, R.M., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K.J., Ravenscroft, G., Mastaglia, F.L., North, K.N., Ilkovski, B., Kremer, H., Lammens, M., van Engelen, B.G.M., Fabian, V., Lamont, P., Davis, M.R., Laing, N.G. and Goldfarb, L.G. (2011) Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. The American Journal of Human Genetics, 88 (1). p. 122.

2010

Sambuughin, N., Yau, K.S., Olivé, M., Duff, R.M., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K.J., Ravenscroft, G., Mastaglia, F.L., North, K.N., Ilkovski, B., Kremer, H., Lammens, M., van Engelen, B.G.M., Fabian, V., Lamont, P., Davis, M.R., Laing, N.G. and Goldfarb, L.G. (2010) Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. The American Journal of Human Genetics, 87 (6). pp. 842-847.

2009

Wallefeld, W., Nowak, K.J., Ingley, E.ORCID: 0000-0002-8112-9134, Stanley, W, Bond, C. and Laing, N. (2009) G.P.7.10 Investigation of the patho-biology of MYH7 myopathy mutations. Neuromuscular Disorders, 19 (8-9). p. 590.

2003

Akkari, P.A., Nowak, K.J., Beckman, K., Walker, K.R., Schachat, F. and Laing, N.G (2003) Production of human skeletal α-actin proteins by the baculovirus expression system. Biochemical and Biophysical Research Communications, 307 (1). pp. 74-79.

2001

Thirion, C., Stucka, R., Mendel, B., Gruhler, A., Jaksch, M., Nowak, K.J., Binz, N., Laing, N.G. and Lochmüller, H. (2001) Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. European Journal of Biochemistry, 268 (12). pp. 3473-3482.

Nowak, Kristen Jean (2001) Genomic and functional genomic investigations of neuromuscular disorders. PhD thesis, Murdoch University.

2000

Nowak, K.J., Walsh, P., Jacob, R.L., Johnsen, R.D., Peverall, J., McNally, E.M., Wilton, S.D., Kakulas, B.A. and Laing, N.G. (2000) Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion. Neuromuscular Disorders, 10 (2). pp. 100-107.

1999

Nowak, K.J., Wattanasirichaigoon, D., Goebel, H.H., Wilce, M., Pelin, K., Donner, K., Jacob, R.L., Hübner, C., Oexle, K., Anderson, J.R., Verity, C.M., North, K.N., Iannaccone, S.T., Müller, C.R., Nürnberg, P., Muntoni, F., Sewry, C., Hughes, I., Sutphen, R., Lacson, A.G., Swoboda, K.J., Vigneron, J., Wallgren-Pettersson, C. and Beggs, A.H. (1999) Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics, 23 (2). pp. 208-212.

Mastaglia, F.L., Nowak, K.J., Stell, R., Phillips, B.A., Edmondston, J.E., Dorosz, S.M., Wilton, S.D., Hallmayer, J., Kakulas, B.A. and Laing, N.G. (1999) Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. Journal of Neurology, Neurosurgery & Psychiatry, 67 (2). pp. 174-179.

1998

Nowak, K., Walsh, P., Jacob, R., Johnsen, R., Wilton, S., Kakulas, B. and Laing, N. (1998) Novel gamma-sarcoglycan missense mutation in sisters with muscular dystrophy. In: 3rd International Congress of World Muscle Society, 29 - 30 May 1998, Naples, Italy.

This list was generated on Tue Nov 24 17:15:52 2020 UTC.