Dr Carolyn Ellaway

Senior Lecturer
Genetic Medicine, Children's Hospital, Westmead


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Selected publications

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Book Chapters

  • Sillence, D., Waters, K., Donaldson, S., Shaw, P., Ellaway, C. (2012). Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI. In Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2011/2, (pp. 103-106). Heidelberg: Springer.
  • Christodoulou, J., Williamson, S., Ellaway, C. (2005). Rett Syndrome. In Jurgen Fuchs & Maurizio Podda (Eds.), Encyclopedia of Medical Genomics and Proteomics, (pp. 1-7). Europe: Marcel Dekker.
  • Ellaway, C. (2003). Rett syndrome. In Kenneth P. Nunn, Cybele Dey (Eds.), The Clinicians Guide to Psychotropic Prescribing Children and Adolescents, (pp. 347-355). Australia: Child and Adolescent Mental Health Statewide Network.

Journals

  • Baikie, G., Ravikumara, M., Downs, J., Naseem, N., Wong, K., Percy, A., Lane, J., Weiss, B., Ellaway, C., Bathgate, K., et al (2014). Gastrointestinal Dysmotility in Rett Syndrome. Journal of Pediatric Gastroenterology and Nutrition, 58(2), 237-244. [More Information]
  • Ellaway, C., Ho, G., Bettella, E., Knapman, A., Collins, F., Hackett, A., McKenzie, F., Darmanian, A., Peters, G., Fagan, K., Christodoulou, J. (2013). 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European Journal of Human Genetics, 21(5), 522-527. [More Information]
  • Leonard, H., Ravikumara, M., Baikie, G., Naseem, N., Ellaway, C., Percy, A., Abraham, S., Gerts, S., Lane, J., Jones, M., et al (2013). Assessment and Management of Nutrition and Growth in Rett Syndrome. Journal of Pediatric Gastroenterology and Nutrition, 57(4), 451-460. [More Information]
  • Silove, N., Collins, F., Ellaway, C. (2013). Update on the investigation of children with delayed development. Journal of Paediatrics and Child Health, 49(7), 519-525. [More Information]
  • Ellaway, C. (2012). Teleconference etiquette. Journal of Paediatrics and Child Health, 48(4), 367-367. [More Information]
  • Fehr, S., Bebbington, A., Ellaway, C., Rowe, P., Leonard, H., Downs, J. (2011). Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome. Journal of Child Neurology, 26(8), 980-987. [More Information]
  • 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. [More Information]
  • White, R., Ho, G., Schmidt, S., Scheffer, I., Fischer, A., Yendle, S., Bienvenu, T., Nectoux, J., Ellaway, C., Darmanian, A., Cloosterman, D., Bennetts, B., Christodoulou, J., et al (2010). Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders. Twin Research and Human Genetics, 13(2), 168-178. [More Information]
  • Balasubramaniam, S., Bowling, F., Earl, J., Chaitow, J., Pitt, J., Mornet, E., Sillence, D., Ellaway, C. (2010). Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. Journal of Inherited Metabolic Disease (JIMD). [More Information]
  • Wilcken, B., Haas, M., Joy, P., Wiley, V., Bowling, F., Carpenter, K., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J., et al (2009). Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years. Pediatrics (English Edition), 124(2), e241-e248. [More Information]
  • Ryan, M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L., Iannaccone, S., Kornberg, A., North, K. (2008). Dietary L-Tyrosine Supplementation in Nemaline Myopathy. Journal of Child Neurology, 23(6), 609-613. [More Information]
  • Bijarnia, S., Wiley, V., Carpenter, K., Christodoulou, J., Ellaway, C., Wilcken, B. (2008). Glutaric aciduria type I: outcome following detection by newborn screening. Journal of Inherited Metabolic Disease (JIMD), 31(4), 503-507. [More Information]
  • Young, D., Bebbington, A., Anderson, A., Ravine, D., Ellaway, C., Kulkarni, A., de Klerk, N., Kaufmann, W., Leonard, H. (2008). The diagnosis of autism in a female: could it be Rett syndrome? European Journal of Pediatrics, 167(6), 661-669. [More Information]
  • Young, D., Nagarajan, L., de Klerk, N., Jacoby, P., Ellaway, C., Leonard, H. (2007). Sleep problems in Rett syndrome. Brain and Development, 29(10), 609-616. [More Information]
  • Ryan, M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L., Iannaccone, S., Kornberg, A., Silberstein, J., North, K. (2006). Dietary L-tyrosine supplementation in nemaline myopathy. Neuromuscular Disorders, 16(S1), S88-S88.
  • Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C., Dure, L., Friez, M., Lane, J., Kiraly-Borri, C., Jackson, J., Christodoulou, J., et al (2006). Early progressive encephalopathy in boys and MECP2 mutations. Neurology, 67(1), 164-166.
  • Laurvick, C., de Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C., Williamson, S., Leonard, H. (2006). Rett syndrome in Australia: A review of the epidemiology. The Journal of Pediatrics, 148(3), 347-352.
  • Robertson, L., Hall, S., Jacoby, P., Ellaway, C., de Klerk, N., Leonard, H. (2006). The association between behavior and genotype in Rett syndrome using the Australian Rett syndrome database. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 141B (2), 177-183. [More Information]
  • Weaving, L., Ellaway, C., Gécz, J., Christodoulou, J. (2005). Rett syndrome: clinical review and genetic update. Journal of Medical Genetics, 42(1), 1-7. [More Information]
  • Mitchell, J., Wilcken, B., Alexander, I., Ellaway, C., O'Grady, H., Wiley, V., Earl, J., Christodoulou, J. (2005). Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience. Molecular Genetics and Metabolism, 86(Suppl 1), S81-S85. [More Information]
  • Weaving, L., Christodoulou, J., Williamson, S., Friend, K., McKenzie, O., Archer, H., Evans, J., Clarke, A., Pelka, G., Tam, P., Lahooti, H., Ellaway, C., Bennetts, B., Watson, C., et al (2004). Mutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation. American Journal of Human Genetics, 75, 1079-1093.
  • Colvin, L., Fyfe, S., Leonard, S., Schiavello, T., Ellaway, C., de Klerk, N., Christodoulou, J., Msall, M., Leonard, H. (2003). Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood, 88(1), 38-43.
  • Weaving, L., Williamson, S., Bennetts, B., Davis, M., Ellaway, C., Leonard, H., Thong, M., Delatycki, M., Thompson, E., Laing, N., Christodoulou, J. (2003). Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype. American Journal of Medical Genetics. Part A, 118A, 103-114.
  • Ellaway, C., Wilcken, B., Christodoulou, J. (2002). Neonatology for the Generalist: Clinical approach to inborn errors of metabolism presenting in the newborn period. Journal of Paediatrics and Child Health, 38(5), 511-517.
  • Ellaway, C., Badawi, N., Raffaele, L., Christodoulou, J., Leonard, H. (2001). A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clinical Dysmorphology, 10(3), 185-188.
  • Kerr, A., Nomura, Y., Amstrong, D., Anvret, M., Belichenko,, P., Budden, S., Cass, H., Christodoulou, J., Clarke, A., Ellaway, C., et al (2001). Guidelines for reporting clinical features in cases with MECP2 mutations. Brain and Development, 23(4), 208-211.
  • Ellaway, C., Peat, J., Williams, K., Leonard, H., Christodoulou, J. (2001). Medium-term open label trial of L-carnitine in Rett Syndrome. Brain and Development, 23(Supplement 1), S85-S89.
  • Ellaway, C., Holme,, E., Standing, S., Preece,, M., Green, A., Ploechl, E., Ugarte, M., Trefz, F., Leonard,, J. (2001). Outcome of tyrosinaemia type III. Journal of Inherited Metabolic Disease (JIMD), 24, 824-832.
  • Ellaway, C., Christodoulou, J. (2001). Rett syndrome: clinical characteristics and recent genetic advances. Disability and Rehabilitation, 23, 98-106.
  • Ellaway, C., Peat, J., Christodoulou, J., Leonard, H. (2001). Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain and Development, 23(1), S101-S103.

2014

  • Baikie, G., Ravikumara, M., Downs, J., Naseem, N., Wong, K., Percy, A., Lane, J., Weiss, B., Ellaway, C., Bathgate, K., et al (2014). Gastrointestinal Dysmotility in Rett Syndrome. Journal of Pediatric Gastroenterology and Nutrition, 58(2), 237-244. [More Information]

2013

  • Ellaway, C., Ho, G., Bettella, E., Knapman, A., Collins, F., Hackett, A., McKenzie, F., Darmanian, A., Peters, G., Fagan, K., Christodoulou, J. (2013). 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European Journal of Human Genetics, 21(5), 522-527. [More Information]
  • Leonard, H., Ravikumara, M., Baikie, G., Naseem, N., Ellaway, C., Percy, A., Abraham, S., Gerts, S., Lane, J., Jones, M., et al (2013). Assessment and Management of Nutrition and Growth in Rett Syndrome. Journal of Pediatric Gastroenterology and Nutrition, 57(4), 451-460. [More Information]
  • Silove, N., Collins, F., Ellaway, C. (2013). Update on the investigation of children with delayed development. Journal of Paediatrics and Child Health, 49(7), 519-525. [More Information]

2012

  • Sillence, D., Waters, K., Donaldson, S., Shaw, P., Ellaway, C. (2012). Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI. In Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2011/2, (pp. 103-106). Heidelberg: Springer.
  • Ellaway, C. (2012). Teleconference etiquette. Journal of Paediatrics and Child Health, 48(4), 367-367. [More Information]

2011

  • Fehr, S., Bebbington, A., Ellaway, C., Rowe, P., Leonard, H., Downs, J. (2011). Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome. Journal of Child Neurology, 26(8), 980-987. [More Information]

2010

  • 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. [More Information]
  • White, R., Ho, G., Schmidt, S., Scheffer, I., Fischer, A., Yendle, S., Bienvenu, T., Nectoux, J., Ellaway, C., Darmanian, A., Cloosterman, D., Bennetts, B., Christodoulou, J., et al (2010). Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders. Twin Research and Human Genetics, 13(2), 168-178. [More Information]
  • Balasubramaniam, S., Bowling, F., Earl, J., Chaitow, J., Pitt, J., Mornet, E., Sillence, D., Ellaway, C. (2010). Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. Journal of Inherited Metabolic Disease (JIMD). [More Information]

2009

  • Wilcken, B., Haas, M., Joy, P., Wiley, V., Bowling, F., Carpenter, K., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J., et al (2009). Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years. Pediatrics (English Edition), 124(2), e241-e248. [More Information]

2008

  • Ryan, M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L., Iannaccone, S., Kornberg, A., North, K. (2008). Dietary L-Tyrosine Supplementation in Nemaline Myopathy. Journal of Child Neurology, 23(6), 609-613. [More Information]
  • Bijarnia, S., Wiley, V., Carpenter, K., Christodoulou, J., Ellaway, C., Wilcken, B. (2008). Glutaric aciduria type I: outcome following detection by newborn screening. Journal of Inherited Metabolic Disease (JIMD), 31(4), 503-507. [More Information]
  • Young, D., Bebbington, A., Anderson, A., Ravine, D., Ellaway, C., Kulkarni, A., de Klerk, N., Kaufmann, W., Leonard, H. (2008). The diagnosis of autism in a female: could it be Rett syndrome? European Journal of Pediatrics, 167(6), 661-669. [More Information]

2007

  • Young, D., Nagarajan, L., de Klerk, N., Jacoby, P., Ellaway, C., Leonard, H. (2007). Sleep problems in Rett syndrome. Brain and Development, 29(10), 609-616. [More Information]

2006

  • Ryan, M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L., Iannaccone, S., Kornberg, A., Silberstein, J., North, K. (2006). Dietary L-tyrosine supplementation in nemaline myopathy. Neuromuscular Disorders, 16(S1), S88-S88.
  • Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C., Dure, L., Friez, M., Lane, J., Kiraly-Borri, C., Jackson, J., Christodoulou, J., et al (2006). Early progressive encephalopathy in boys and MECP2 mutations. Neurology, 67(1), 164-166.
  • Laurvick, C., de Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C., Williamson, S., Leonard, H. (2006). Rett syndrome in Australia: A review of the epidemiology. The Journal of Pediatrics, 148(3), 347-352.
  • Robertson, L., Hall, S., Jacoby, P., Ellaway, C., de Klerk, N., Leonard, H. (2006). The association between behavior and genotype in Rett syndrome using the Australian Rett syndrome database. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 141B (2), 177-183. [More Information]

2005

  • Christodoulou, J., Williamson, S., Ellaway, C. (2005). Rett Syndrome. In Jurgen Fuchs & Maurizio Podda (Eds.), Encyclopedia of Medical Genomics and Proteomics, (pp. 1-7). Europe: Marcel Dekker.
  • Weaving, L., Ellaway, C., Gécz, J., Christodoulou, J. (2005). Rett syndrome: clinical review and genetic update. Journal of Medical Genetics, 42(1), 1-7. [More Information]
  • Mitchell, J., Wilcken, B., Alexander, I., Ellaway, C., O'Grady, H., Wiley, V., Earl, J., Christodoulou, J. (2005). Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience. Molecular Genetics and Metabolism, 86(Suppl 1), S81-S85. [More Information]

2004

  • Weaving, L., Christodoulou, J., Williamson, S., Friend, K., McKenzie, O., Archer, H., Evans, J., Clarke, A., Pelka, G., Tam, P., Lahooti, H., Ellaway, C., Bennetts, B., Watson, C., et al (2004). Mutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation. American Journal of Human Genetics, 75, 1079-1093.

2003

  • Colvin, L., Fyfe, S., Leonard, S., Schiavello, T., Ellaway, C., de Klerk, N., Christodoulou, J., Msall, M., Leonard, H. (2003). Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood, 88(1), 38-43.
  • Weaving, L., Williamson, S., Bennetts, B., Davis, M., Ellaway, C., Leonard, H., Thong, M., Delatycki, M., Thompson, E., Laing, N., Christodoulou, J. (2003). Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype. American Journal of Medical Genetics. Part A, 118A, 103-114.
  • Ellaway, C. (2003). Rett syndrome. In Kenneth P. Nunn, Cybele Dey (Eds.), The Clinicians Guide to Psychotropic Prescribing Children and Adolescents, (pp. 347-355). Australia: Child and Adolescent Mental Health Statewide Network.

2002

  • Ellaway, C., Wilcken, B., Christodoulou, J. (2002). Neonatology for the Generalist: Clinical approach to inborn errors of metabolism presenting in the newborn period. Journal of Paediatrics and Child Health, 38(5), 511-517.

2001

  • Ellaway, C., Badawi, N., Raffaele, L., Christodoulou, J., Leonard, H. (2001). A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clinical Dysmorphology, 10(3), 185-188.
  • Kerr, A., Nomura, Y., Amstrong, D., Anvret, M., Belichenko,, P., Budden, S., Cass, H., Christodoulou, J., Clarke, A., Ellaway, C., et al (2001). Guidelines for reporting clinical features in cases with MECP2 mutations. Brain and Development, 23(4), 208-211.
  • Ellaway, C., Peat, J., Williams, K., Leonard, H., Christodoulou, J. (2001). Medium-term open label trial of L-carnitine in Rett Syndrome. Brain and Development, 23(Supplement 1), S85-S89.
  • Ellaway, C., Holme,, E., Standing, S., Preece,, M., Green, A., Ploechl, E., Ugarte, M., Trefz, F., Leonard,, J. (2001). Outcome of tyrosinaemia type III. Journal of Inherited Metabolic Disease (JIMD), 24, 824-832.
  • Ellaway, C., Christodoulou, J. (2001). Rett syndrome: clinical characteristics and recent genetic advances. Disability and Rehabilitation, 23, 98-106.
  • Ellaway, C., Peat, J., Christodoulou, J., Leonard, H. (2001). Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain and Development, 23(1), S101-S103.

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