Dr Carolyn Ellaway

Senior Lecturer
Genetic Medicine, Children's Hospital, Westmead

Genetics

Publications

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]
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]
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]

Ellaway, C., Jacob, P., Young, D., Nagarajan, L., Leonard, H., de Klerk, N. (2007), Sleep problems in Rett syndrome. BRAIN & DEVELOPMENT. 29(10), 609-616. [Abstract]

Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C., Dure, L., Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W., Ravine, D., Percy, A. (2006), Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 67(1), 164-166. [Abstract]
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, S88-S88. [Abstract]
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. [Abstract]
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. Journal of Pediatrics. 148(3), 347-352. [Abstract]