Dr Janine Smith

Lecturer
Paediatrics & Child Health, Children's Hospital, Westmead

Telephone +61 2 9845 3273
Fax +61 2 9845 3204

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Selected publications

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Journals

  • Meyer-Rochow, G., Smith, J., Richardson, A., Marsh, D., Sidhu, S., Robinson, B., Benn, D. (2009). Denaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in Pheochromocytoma. Journal of Surgical Research, 157, 55-62. [More Information]
  • Rodriguez-Ballestero, M., Reynoso, R., Olarte, M., Villamar, M., Morera, C., Santarelli, R., Arslan, E., Meda, C., Smith, J., et al (2008). A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Human Mutation, 29(6), 823-831. [More Information]
  • Clement, E., Mercuri, E., Godfrey, C., Smith, J., Robb, S., Kinali, M., Straub, V., Bushby, K., Manzur, A., Talim, B., North, K., et al (2008). Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Annals of Neurology, 64(5), 573-582. [More Information]
  • Peat, R., Smith, J., Compton, A., Baker, N., Pace, R., Burkin, D., Kaufman, S., Lamande, S., North, K. (2008). The diagnosis and etiology of congenital muscular dystrophy. Neurology, 71(5), 312-321. [More Information]
  • Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., North, K., et al (2007). Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain, 130(10), 2725-2735. [More Information]
  • Bajaj, R., Smith, J., Trochet, D., Pitkin, J., Ouvrier, R., Graf, N., Sillence, D., Kluckow, M. (2005). Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics, 115(6), e737-e738. [More Information]
  • Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schöneborn, S., Blaschek, A., Wolf, N., et, A., North, K., Smith, J. (2005). Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nature Genetics, 37(12), 1312-1314. [More Information]
  • Neas, K., Smith, J., Chia, N., Huseyin, S., St Heaps, L., Sholler, G., Tzioumi, D., Sillence, D., Mowat, D. (2005). Three patients with terminal deletions within the subtelomeric region of chromosome 9q. American Journal of Medical Genetics. Part A, 132(4), 425-30. [More Information]
  • Kirk, E., Smith, J., Field, M., Marshall, G., Marsh, D. (2004). Diagnosis of Proteus Syndrome was correct. American Journal of Medical Genetics. Part A, 130A (2), 214-215. [More Information]

2009

  • Meyer-Rochow, G., Smith, J., Richardson, A., Marsh, D., Sidhu, S., Robinson, B., Benn, D. (2009). Denaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in Pheochromocytoma. Journal of Surgical Research, 157, 55-62. [More Information]

2008

  • Rodriguez-Ballestero, M., Reynoso, R., Olarte, M., Villamar, M., Morera, C., Santarelli, R., Arslan, E., Meda, C., Smith, J., et al (2008). A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Human Mutation, 29(6), 823-831. [More Information]
  • Clement, E., Mercuri, E., Godfrey, C., Smith, J., Robb, S., Kinali, M., Straub, V., Bushby, K., Manzur, A., Talim, B., North, K., et al (2008). Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Annals of Neurology, 64(5), 573-582. [More Information]
  • Peat, R., Smith, J., Compton, A., Baker, N., Pace, R., Burkin, D., Kaufman, S., Lamande, S., North, K. (2008). The diagnosis and etiology of congenital muscular dystrophy. Neurology, 71(5), 312-321. [More Information]

2007

  • Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., North, K., et al (2007). Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain, 130(10), 2725-2735. [More Information]

2005

  • Bajaj, R., Smith, J., Trochet, D., Pitkin, J., Ouvrier, R., Graf, N., Sillence, D., Kluckow, M. (2005). Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics, 115(6), e737-e738. [More Information]
  • Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schöneborn, S., Blaschek, A., Wolf, N., et, A., North, K., Smith, J. (2005). Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nature Genetics, 37(12), 1312-1314. [More Information]
  • Neas, K., Smith, J., Chia, N., Huseyin, S., St Heaps, L., Sholler, G., Tzioumi, D., Sillence, D., Mowat, D. (2005). Three patients with terminal deletions within the subtelomeric region of chromosome 9q. American Journal of Medical Genetics. Part A, 132(4), 425-30. [More Information]

2004

  • Kirk, E., Smith, J., Field, M., Marshall, G., Marsh, D. (2004). Diagnosis of Proteus Syndrome was correct. American Journal of Medical Genetics. Part A, 130A (2), 214-215. [More Information]

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