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
E:

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Themes | Keywords | Publications

 

Keywords

molecular genetics; Genetics; Mutation

Publications

2011 | 2010 | 2009 | 2008 | 2007 | 2006

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]

2007

   
  • Hardwick, S., Reuter, K., Williamson, S., Vasudevan, V., Donald, J., Slater, K., Bennetts, B., Bebbington, A., Leonard, H., Williams, S., Smith, R., Cloosterman, D., Christodoulou, J. (2007), Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. European journal of human genetics : EJHG. 15(12), 1218-29. [Abstract]
  • Chiong, M., Bennetts, B., Strasser, S., Wilcken, B. (2007), Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery. The Medical journal of Australia. 186(8), 418-9. [Abstract]

2006

   
  • Bugeja, M., Booth, D., Bennetts, B., Heard, R., Stewart, G. (2006), An investigation of polymorphisms in the 4q1 3.3-21.1 CXC chemokine gene cluster for association with multiple sclerosis in Australians. Multiple sclerosis (Houndmills, Basingstoke, England). 12(6), 710-22. [Abstract]
  • Thamotharampillai, K., Chan, A., Bennetts, B., Craig, M., Cusumano, J., Silink, M., Oates, P., Donaghue, K. (2006), Decline in Neurophysiological Function After 7 Years in an Adolescent Diabetic Cohort and the Role of Aldose Reductase Gene Polymorphisms. Diabetes care. 29(9), 2053-2057. [Abstract]
  • Chiong, M., Marinaki, A., Duley, J., Bennetts, B., Ouvrier, R., Christodoulou, J. (2006), Lesch-Nyhan disease in a 20-year-old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy. Journal of inherited metabolic disease. 29, 594. [Abstract]
  • Adès, L., Sullivan, K., Biggin, A., Haan, E., Brett, M., Holman, K., Dixon, J., Robertson, S., Holmes, A., Rogers, J., Bennetts, B. (2006), FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. American Journal of Medical Genetics. Part A. 140(10), 1047-58. [Abstract]
  • Waddell, L., Wiley, V., Carpenter, K., Bennetts, B., Angel, L., Andresen, B., Wilcken, B. (2006), Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Molecular genetics and metabolism. 87(1), 32-9. [Abstract]
  • Hofer, S., Bennetts, B., Chan, A., Holloway, B., Karschimkus, C., Jenkins, A., Silink, M., Donaghue, K. (2006), Association between PON 1 polymorphisms, PON activity and diabetes complications. Journal of diabetes and its complications. 20(5), 322-8. [Abstract]
  • Bugeja, M., Booth, D., Bennetts, B., Heard, R., Rubio, J., Stewart, G. (2006), An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians. BMC medical genetics [electronic resource]. 7, 64. [Abstract]