Dr Kristi Jones

Clinical Senior Lecturer
Genetic Medicine, Children's Hospital, Westmead

Telephone +61 2 9845 3880
Fax +61 2 9845 3214

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Selected publications

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Book Chapters

  • Jones, K., North, K. (2003). Congenital Muscular Dystrophies. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 633-647). Amsterdam: Butterworth Heinemann.

Journals

  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., North, K., Clarke, N., et al (2012). Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology, 78(16), 1258-1263. [More Information]
  • Rohrbach, M., Vandersteen, A., Yiş, U., Serdaroglu, G., Ataman, E., Chopra, M., Garcia, S., Jones, K., Kariminejad, A., Kraenzlin, M., et al (2011). Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet Journal of Rare Diseases, 6, Article 46 - 1-Article 46 - 9. [More Information]
  • Mehr, S., Jones, K., Singh-Grewal, D., Aksentijevich, I., Kakakios, A. (2010). Chronic urticaria of neonatal onset: A potential sign of autoinflammation. Journal of Paediatrics and Child Health, 46(10), 608-610. [More Information]
  • Hoornaert, K., Vereecke, I., Dewinter, C., Rosenberg, T., Beemer, F., Leroy, J., Bendix, L., Bjork, E., Bonduelle,, M., Boute, O., Jones, K., et al (2010). Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. European Journal of Human Genetics, 18(8), 872-880.
  • D'haene, B., Attanasio, C., Beysen, D., Dostie, J., Lemire, E., Bouchard, P., Field, M., Jones, K., Lorenz, B., Menten, B., et al (2009). Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening. PLoS Genetics, 5(6), 13. [More Information]
  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., North, K., et al (2008). Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy. American Journal of Human Genetics, 83(6), 714-724. [More Information]
  • Peat, R., Baker, N., Jones, K., North, K., Lamande, S. (2007). Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscular Disorders, 17(7), 547-557. [More Information]
  • Geevasinga, N., Richards, F., Jones, K. (2006). Juvenile Huntington disease. Journal of Paediatrics and Child Health, 42(9), 552-4. [More Information]
  • Gabbett, M., Jones, K., Cowell, C., Sillence, D., Wilson, M. (2006). Neonatal severe hyperparathyroidism: An important clue to the aetiology. Journal of Paediatrics and Child Health, 42(12), 813-816. [More Information]
  • Shaw, C., Stankiewicz, P., Christodoulou, J., Smith, E., Jones, K., Lupski, J. (2004). A Girl With Duplication 17p10-p12 Associated With A Dicentric Chromosome. American Journal of Medical Genetics. Part A, 124A (2), 173-178.
  • Jones, K., Compton, A., Yang, N., Mills, M., Peters, M., Mowat, D., Kunkel, L., Froehner, S., North, K. (2003). Defiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscular Disorders, 13, 456-467.
  • Jones, K., North, K., He,, Y., Vignier, N., Morgan, G., Chevallay,, M., Barois, A., Estournet-Mathiaud,, B., Hori, H., Mizuta,, T., et al (2001). Congenital muscular dystrophy with primary partial laminin alpha-2 chain deficiency: Molecular study. Neurology, 57, 1319-1322.
  • Jones, K., Ouvrier, R., North, K., Morgan, G., Johnston, H., Tobias, V., Wilkinson,, I. (2001). The expanding phenotype of laminin alpha-2 chain (merosin) abnormalities: case series and review. Journal of Medical Genetics, 38, 649-657.

Conferences

  • Peat, R., Baker, N., Jones, K., Lamande, S., North, K. (2006). Defining the aetiology of congenital muscular dystrophy in a large cohort. XIth International Congress on Neuromuscular Diseases, United Kingdom: Elsevier.

2012

  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., North, K., Clarke, N., et al (2012). Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology, 78(16), 1258-1263. [More Information]

2011

  • Rohrbach, M., Vandersteen, A., Yiş, U., Serdaroglu, G., Ataman, E., Chopra, M., Garcia, S., Jones, K., Kariminejad, A., Kraenzlin, M., et al (2011). Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet Journal of Rare Diseases, 6, Article 46 - 1-Article 46 - 9. [More Information]

2010

  • Mehr, S., Jones, K., Singh-Grewal, D., Aksentijevich, I., Kakakios, A. (2010). Chronic urticaria of neonatal onset: A potential sign of autoinflammation. Journal of Paediatrics and Child Health, 46(10), 608-610. [More Information]
  • Hoornaert, K., Vereecke, I., Dewinter, C., Rosenberg, T., Beemer, F., Leroy, J., Bendix, L., Bjork, E., Bonduelle,, M., Boute, O., Jones, K., et al (2010). Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. European Journal of Human Genetics, 18(8), 872-880.

2009

  • D'haene, B., Attanasio, C., Beysen, D., Dostie, J., Lemire, E., Bouchard, P., Field, M., Jones, K., Lorenz, B., Menten, B., et al (2009). Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening. PLoS Genetics, 5(6), 13. [More Information]

2008

  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., North, K., et al (2008). Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy. American Journal of Human Genetics, 83(6), 714-724. [More Information]

2007

  • Peat, R., Baker, N., Jones, K., North, K., Lamande, S. (2007). Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscular Disorders, 17(7), 547-557. [More Information]

2006

  • Peat, R., Baker, N., Jones, K., Lamande, S., North, K. (2006). Defining the aetiology of congenital muscular dystrophy in a large cohort. XIth International Congress on Neuromuscular Diseases, United Kingdom: Elsevier.
  • Geevasinga, N., Richards, F., Jones, K. (2006). Juvenile Huntington disease. Journal of Paediatrics and Child Health, 42(9), 552-4. [More Information]
  • Gabbett, M., Jones, K., Cowell, C., Sillence, D., Wilson, M. (2006). Neonatal severe hyperparathyroidism: An important clue to the aetiology. Journal of Paediatrics and Child Health, 42(12), 813-816. [More Information]

2004

  • Shaw, C., Stankiewicz, P., Christodoulou, J., Smith, E., Jones, K., Lupski, J. (2004). A Girl With Duplication 17p10-p12 Associated With A Dicentric Chromosome. American Journal of Medical Genetics. Part A, 124A (2), 173-178.

2003

  • Jones, K., North, K. (2003). Congenital Muscular Dystrophies. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 633-647). Amsterdam: Butterworth Heinemann.
  • Jones, K., Compton, A., Yang, N., Mills, M., Peters, M., Mowat, D., Kunkel, L., Froehner, S., North, K. (2003). Defiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscular Disorders, 13, 456-467.

2001

  • Jones, K., North, K., He,, Y., Vignier, N., Morgan, G., Chevallay,, M., Barois, A., Estournet-Mathiaud,, B., Hori, H., Mizuta,, T., et al (2001). Congenital muscular dystrophy with primary partial laminin alpha-2 chain deficiency: Molecular study. Neurology, 57, 1319-1322.
  • Jones, K., Ouvrier, R., North, K., Morgan, G., Johnston, H., Tobias, V., Wilkinson,, I. (2001). The expanding phenotype of laminin alpha-2 chain (merosin) abnormalities: case series and review. Journal of Medical Genetics, 38, 649-657.

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