Associate Professor Bruce Bennetts

Associate Professor
Genetic Medicine, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: +61 2 9845 3246
F: +61 2 9891 3204
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Themes | Keywords | Publications

 

Keywords

molecular genetics; Genetics; Mutation

Publications

2013 | 2012 | 2011 | 2010 | 2009 | 2008

2013

   
  • Christie, L., Wotton, T., Bennetts, B., Wiley, V., Wilcken, B., Rogers, C., Boyle, J., Turner, C., Hansen, J., Hunter, M., Goel, H., Field, M. (2013), Maternal attitudes to newborn screening for fragile X syndrome. American Journal of Medical Genetics. Part A. 161A(2), 301-311. [Abstract]

2012

   
  • Shinar, Y., Obici, L., Aksentijevich, I., Bennetts, B., Austrup, F., Ceccherini, I., Costa, J., De Leener, A., Gattorno, M., Kania, U., Kone-Paut, I., Lezer, S., Livneh, A., Moix, I., Nishikomori, R., Ozen, S., Phylactou, L., Risom, L., Rowczenio, D., Sarkisian, T., van Gijn, M., Witsch-Baumgartner, M., Morris, M., Hoffman, H., Touitou, I. (2012), Guidelines for the genetic diagnosis of hereditary recurrent fevers. Annals of the Rheumatic Diseases. 71(10), 1599-1605. [Abstract]

2011

   
  • Stark, Z., Storen, R., Bennetts, B., Savarirayan, R., Jamieson, R. (2011), Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. European Journal of Human Genetics. 19(7), 753-756. [Abstract]

2010

   
  • White, R., Ho, G., Schmidt, S., Scheffer, I., Fischer, A., Yendle, S., Bienvenu, T., Nectoux, J., Ellaway, C., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, B., Kalra, V., Fullston, T., Gecz, J., Cox, T., Christodoulou, J. (2010), Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders. Twin Research and Human Genetics. 13(2), 168-178. [Abstract]
  • Balasubramaniam, S., Rudduck, C., Bennetts, B., Peters, G., Wilcken, B., Ellaway, C. (2010), Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency. Molecular genetics and metabolism. 99(1), 34-41. [Abstract]

2009

   
  • Hamvas, A., Nogee, L., Wegner, D., Depass, K., Christodoulou, J., Bennetts, B., McQuade, L., Gray, P., Deterding, R., Carroll, T., Kammesheidt, A., Kasch, L., Kulkarni, S., Cole, F. (2009), Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette, Subfamily A, Member 3 Genes. The Journal of pediatrics. 155(6), 854-859.e1. [Abstract]
  • Kwok, S., Bennetts, B., Nanan, R. (2009), A case of periodic fever and persistent splenomegaly in a 2-year-old boy. BMJ Case Reports. 2009, bcr06.2008.0098. [Abstract]

2008

   
  • Gallego, P., Craig, M., Duffin, A., Bennetts, B., Jenkins, A., Hofer, S., Lam, A., Donaghue, K. (2008), Association between p.Leu54Met Polymorphism at the Paraoxonase-1 Gene and Plantar Fascia Thickness in Young Subjects with Type 1 Diabetes. Diabetes care. 31(8), 1585-9. [Abstract]
  • Wilson, M., Peters, G., Bennetts, B., McGillivray, G., Wu, Z., Poon, C., Algar, E. (2008), The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: Two new reports. American journal of medical genetics. Part A. 146A, 137-48. [Abstract]