Dr Carolyn Ellaway

Senior Lecturer
Genetic Medicine, Children's Hospital, Westmead



2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • Baikie, G., Ravikumara, M., Downs, J., Naseem, N., Wong, K., Percy, A., Lane, J., Weiss, B., Ellaway, C., Bathgate, K., Leonard, H. (2014), Gastrointestinal Dysmotility in Rett Syndrome. Journal of Pediatric Gastroenterology and Nutrition. 58(2), 244-251. [Abstract]


  • Leonard, H., Ravikumara, M., Baikie, G., Naseem, N., Ellaway, C., Percy, A., Abraham, S., Geerts, S., Lane, J., Jones, M., Bathgate, K., Downs, J. (2013), Assessment and Management of Nutrition and Growth in Rett Syndrome. Journal of Pediatric Gastroenterology and Nutrition. 57(4), 451-460. [Abstract]
  • 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. [Abstract]
  • 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. [Abstract]


  • Ellaway, C. (2012), Teleconference etiquette. Journal of Paediatrics and Child Health. 48(4), 367. [Abstract]
  • 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: JIMD Reports - Case and Research Reports, 2011/2. (pp.103-106).Germany: Springer.


  • 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. [Abstract]


  • 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., Bowling, F., Carpenter, K., 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. 0(0), 0. [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]


  • Wilcken, B., Haas, M., Joy, P., Wiley, V., Bowling, F., Carpenter, K., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J., Kirk, E., Lewis, B., McGill, J., Peters, H., Pitt, J., Ranieri, E., Yaplito-Lee, J., Boneh, A. (2009), Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years. Pediatrics. 124(2), e241-e248. [Abstract]


  • 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. 31(4), 503-7. [Abstract]
  • 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. [Abstract]
  • 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(0), 609-13. [Abstract]