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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Keywords

Musculoskeletal diseases; Genetic diseases

Clinical Specialty

Paediatrics

Selected publications

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Journals

  • Shi, H., Enriquez, A., Rapadas, M., Martin, E., Wang, R., Moreau, J., Lim, C., Szot, J., Ip, E., Hughes, J., Smith, J., Collins, F., Sillence, D., et al (2017). NAD deficiency, congenital malformations, and niacin supplementation. The New England Journal of Medicine, 377(6), 544-552. [More Information]
  • Eggers, S., Sadedin, S., van den Bergen, J., Robevska, G., Ohnesorg, T., Hewitt, J., Lambeth, L., Bouty, A., Knarston, I., Smith, G., Smith, J., Ewans, L., Shalhoub, C., Cowell, C., et al (2016). Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biology, 17(1), 1-21. [More Information]
  • 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]

2017

  • Shi, H., Enriquez, A., Rapadas, M., Martin, E., Wang, R., Moreau, J., Lim, C., Szot, J., Ip, E., Hughes, J., Smith, J., Collins, F., Sillence, D., et al (2017). NAD deficiency, congenital malformations, and niacin supplementation. The New England Journal of Medicine, 377(6), 544-552. [More Information]

2016

  • Eggers, S., Sadedin, S., van den Bergen, J., Robevska, G., Ohnesorg, T., Hewitt, J., Lambeth, L., Bouty, A., Knarston, I., Smith, G., Smith, J., Ewans, L., Shalhoub, C., Cowell, C., et al (2016). Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biology, 17(1), 1-21. [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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