Catalog Home Page

Publications: Nowak, Kristen

Stats for Nowak, Kristen
Export as [feed] RSS
Group by: Item Type | Year
Number of items: 16.

Journal Article

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 .

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 .

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.

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.

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.

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.

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, 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.

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.

Conference Item

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 Fri Sep 20 07:52:57 2019 UTC.