Mori Y, Downs J, Wong K, et al. Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder. Eur Child Adolesc Psychiatry. Forthcoming 2018.
Wong K, Downs J, Ellaway C, et al. Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population. J Pediatr. 2018;200:188-195.
Lai YYL, King NM, Downs J, et al. Management of oral and dental problems in Rett syndrome: a narrative review of the literature. Journal of Disability and Oral Health. 2018;19(2):39-48.
Mackay J, Leonard H, Wong K, Wilson A, Downs J. Respiratory morbidity in Rett syndrome: an observational study. Developmental Medicine & Child Neurology. 2018;60(9):951-957.
Downs J, Rodger J, Li C, Tan X, Hu N, Wong K, de Klerk N, Leonard H. Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial. Orphanet Journal of Rare Diseases. 2018;13(3).
Stahlhut M, Hill K, Bisgaard A, Kjersgaard Jensen A, Anderson M, Leonard H, Downs J. Measurement of sedentary behaviours or ‘downtime’ in Rett syndrome. Journal of Child Neurology. 2017;32(12):1009-1013.
Urbanowicz A, Ciccone N, Girdler S, Leonard H, Downs J. Choice making in Rett syndrome: A descriptive study using video data. Disability and Rehabilitation. 2017;40(7)813-819.
Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H. Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study. Journal of Neurodevelopmental Disorders. 2017;9:15.
Downs J, Leonard H, Wong K, Newton N, Hill K. Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome. Developmental Medicine & Child Neurology. 2017;59(6):605-611.
Leonard H, Cobb S, Downs J. Clinical and Biological Progress over 50 Years in Rett syndrome. Nature Reviews Neurology. 2017;13(1):37-51.
Urbanowicz A, Leonard H, Girdler S, Ciccone N, Downs J. Parental perspectives on the communication abilities of their daughters with Rett syndrome. Developmental Neurorehabilitation. 2016;19(1):17-25.
Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H. An exploration of the use of eye gaze and gestures in females with Rett syndrome. Journal of Speech, Language, and Hearing Research. 2016;59(6):1373-83.
Stahlhut M, Downs J, Leonard H, Bisgaard A M, Nordmark E. Building the repertoire of measures of walking in Rett syndrome. Disability Rehabilitation. 2017;39(19):1926-1931.
Horne T, Leonard H, Stannage K, Downs J. A qualitative investigation of recovery after femoral fracture in Rett syndrome. Child: Care, Health and Development. 2016;43(2):232-239.
Downs J, Torode I, Wong K, et al. The Natural History of Scoliosis in Females With Rett Syndrome. Spine. 2016;41(10):856-63.
Boban S, Wong K, Epstein A, Anderson B, Murphy N, Downs J, Leonard H. Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype. American Journal of Medical Genetics Part A. 2016;170(9):2292-300.
Downs J, Forbes D, Johnson M, Leonard H. The child with Rett syndrome: how can clinical ethics guide the management of the comorbidities in the child with Rett syndrome? Journal of Paediatrics and Child Health. 2016;52(8):809-13.
Jefferson A, Leonard H, Siafarikas A, Woodhead H, Fyfe S, et al. Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. PLoS One. 2016;11(2):e0146824.
Epstein A, Leonard H, Davis E, Williams K, Reddihough D, Murphy N, Whitehouse A, Downs J.Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods. American Journal of Medical Genetics Part A. 2015;170(3):645-53.
Downs J, Torode I, Wong K, Ellaway C, Elliott E, Christodoulou J, et al. Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study. Developmental Medicine & Child Neurology. 2016;58(6):632-8.
Lor L, Hill K, Jacoby P, Leonard H, Downs J. A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome. Developmental Medicine & Child Neurology. 2015;57(12):1137-42.
Downs J, Wong K, Torode I, Ellaway C, Elliott E, Christodoulou J, et al. Survival following surgical correction of scoliosis in Rett syndrome: a population-based study in Australia. Physiotherapy. 2015;101:e326-e7.
Downs J, Leonard H, Jacoby P, Brisco L, Baikie G, Hill K. Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders. Disability and Rehabilitation. 2015;37(21):1992-6.
Marr C, Leonard H, Torode I, Downs J. Spinal fusion in girls with Rett syndrome: family experiences and postoperative recovery. Child: Care, Health and Development. 2015;41(6):1000-9.
Wong K, Leonard H, Jacoby P, Ellaway C, Downs J. The trajectories of sleep disturbances in Rett syndrome. Journal of Sleep Research. 2015;24(2):223-33.
Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H. Aspects of Speech-Language Abilities are Influenced by MECP2 Mutation Type in Girls with Rett Syndrome. American Journal of Medical Genetics. 2015;167a(2):354-362.
Jefferson A, Fyfe S, Downs J, Woodhead H, Jacoby P, Leonard H. Longitudinal bone mineral content and density in Rett syndrome and their contributing factors. Bone. 2015;74:191-8.
Fehr S, Leonard H, Ho G, Williams S, De Klerk N, Forbes D, et al. There is variability in the attainment of developmental milestones in the CDKL5 disorder. Journal of Neurodevelopmental Disorders. 2015;7:2.
Walker EM, Crawford F, Leonard H. Community participation: Conversations with parent-carers of young women with Rett syndrome. Journal of Intellectual & Developmental Disability. 2014;39(3):243-252.
Freilinger M, Bohm M, Lanator I, Vergesslich-Rothschild K, Huber WD, Anderson A, et al.Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome. Developmental Medicine and Child Neurology. 2014;56(8):756-62.
Downs J, Wong K, Ravikumara M, Ellaway C, Elliott EJ, Christodoulou J, et al. Experience of Gastrostomy Using a Quality Care Framework: The Example of Rett Syndrome. Medicine. 2014;93(28).
Downs J, Torode I, Ellaway C, Jacoby P, Bunting C, Wong K, et al. Family satisfaction following spinal fusion in Rett syndrome. Developmental Neurorehabilitation. 2016;19(1):31-37.
Downs J, Parkinson S, Ranelli S, Leonard H, Diener P, Lotan M. Perspectives on hand function in girls and women with Rett syndrome. Developmental Neurorehabilitation. 2014;17(3):210-7.
Baikie G, Ravikumara M, Downs J, Naseem N, Wong K, Percy A, et al. Gastrointestinal dysmotility in Rett syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2014;58(2):237-44.
Andrews J, Leonard H, Hammond GC, Girdler S, Rajapaksa R, Bathgate K, et al. Community participation for girls and women living with Rett syndrome. Disability and Rehabilitation. 2014;36(11):894-9.
Anderson A, Wong K, Jacoby P, Downs J, Leonard H. Twenty years of surveillance in Rett syndrome: what does this tell us? Orphanet Journal of Rare Diseases. 2014;9:87.
Lim F, Downs J, Li J, Bao XH, Leonard H. Caring for a child with severe intellectual disability in China: the example of Rett syndrome. Disability and Rehabilitation. 2013;35(4):343-51.
Leonard H, Ravikumara M, Baikie G, Naseem N, Ellaway C, Percy A, et al. Assessment and management of nutrition and growth in Rett syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2013;57(4):451-60.
Leonard H, Anderson A, Bebbington A, Bao X, Wong K, Williams S, et al. Resourceful and creative methods are necessary to research rare disorders. Developmental Medicine and Child Neurology. 2013;55(9):870-1.
Lee JY, Leonard H, Piek JP, Downs J. Early development and regression in Rett syndrome. Clinical Genetics. 2013;84(6):572-6.
Knight O, Bebbington A, Siafarikas A, Woodhead H, Girdler S, Leonard H. Pubertal trajectory in females with Rett syndrome: a population-based study. Brain and Development. 2013;35(10):912-20.
Hammond GC, Langridge AT, Leonard H, Hagan R, Jacoby P, Deklerk N, et al. Authors' reply: changes in risk factors for preterm birth in Western Australia 1984-2006. BJOG: An International Journal of Obstetrics and Gynaecology. 2013;120(13):1699.
Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics. 2013;21(3):266-73.
Dyke P, Bourke J, Llewellyn G, Leonard H. The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life. Journal of Intellectual & Developmental Disability. 2013;38(2):149-62.
Downs J, Leonard H. Longitudinal approaches to populations with childhood onset neurodevelopmental conditions: Australian experience with Rett syndrome. In: Ronen GM, Rosenbaum PL, editors. Life Quality Outcomes in Children and Young People with Neurological and Developmental Conditions: Concepts, Evidence and Practice. London: MacKeith Press; 2013.
Bao X, Downs J, Wong K, Williams S, Leonard H. Using a large international sample to investigate epilepsy in Rett syndrome. Developmental Medicine and Child Neurology. 2013;55(6):553-8.
Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, et al. What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome? Clinical Genetics. 2012;82(6):526-33.
Therapeutic Guidelines Limited, Carol B, Leonard H. In: Management guidelines: developmental disability. Version 3. Melbourne: Therapeutic Guidelines Limited; 2012.
Lim F, Downs J, Li J, Bao XH, Leonard H. Barriers to diagnosis of a rare neurological disorder in China--lived experiences of Rett syndrome families. American Journal of Medical Genetics. Part A. 2012;158A(1):1-9.
Knott M, Leonard H, Downs J. Genetic drift. The diagnostic odyssey to Rett syndrome: the experience of an Australian family. American Journal of Medical Genetics. Part A. 2012;158A(1):10-2.
Downs J, Leonard H, Hill K. Initial assessment of the StepWatch Activity Monitor to measure walking activity in Rett syndrome. Disability and Rehabilitation. 2012;34(12):1010-5.
Bebbington A, Downs J, Percy A, Pineda M, Zeev BB, Bahi-Buisson N, et al. The phenotype associated with a large deletion on MECP2. European Journal of Human Genetics. 2012;20(9):921-7.
Young D, Bebbington A, de Klerk N, Bower C, Nagarajan L, Leonard H. The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population. Research in Autism Spectrum Disorders. 2011;5(1):442-449.
Urbanowicz A, Downs J, Bebbington A, Jacoby P, Girdler S, Leonard H. Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome. Research in Autism Spectrum Disorders. 2011;5(2):722-732.
Jefferson AL, Woodhead HJ, Fyfe S, Briody J, Bebbington A, Strauss BJ, et al. Bone mineral content and density in Rett syndrome and their contributing factors. Pediatric Research. 2011;69(4):293-8.
Hendrie D, Bebbington A, Bower C, Leonard H. Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome. Research in Autism Spectrum Disorders. 2011;5(2):901-909.
Foley KR, Downs J, Bebbington A, Jacoby P, Girdler S, Kaufmann WE, et al. Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period. Journal of Child Neurology. 2011;26(10):1237-45.
Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, N DEK, et al. Trends in the diagnosis of Rett syndrome in Australia. Pediatric Research. 2011;70(3):313-9.
Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J. Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome. Journal of Child Neurology. 2011;26(8):980-7.
Dye DE, Brameld KJ, Maxwell S, Goldblatt J, Bower C, Leonard H, et al. The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: a population-based study. Public Health Genomics. 2011;14(3):153-61.
Downs J, Bebbington A, Kaufmann WE, Leonard H. Longitudinal hand function in Rett syndrome. Journal of Child Neurology. 2011;26(3):334-40.
Tay G, Graham H, Graham HK, Leonard H, Reddihough D, Baikie G. Hip displacement and scoliosis in Rett syndrome - screening is required. Developmental Medicine and Child Neurology. 2010; 52(1):93-98.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, S. BME, Schanen CN, Zappella M, Renieri A, Huppke P, Percy AK. Rett Syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology. 2010; 68(6):944-950.
Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H. Valproate and risk of fracture in Rett syndrome. Archives of Disease in Childhood. 2010; 95(6):444-448.
Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Al Raisi Z, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of Medical Genetics. 2010; 47:211-216.
Freilinger M, Bebbington A, Lanator I, De Klerk N, Dunkler D, Seidl R, Leonard H, Ronen GM. Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome Database. Developmental Medicine and Child Neurology. 2010; Epub June 2010.
Fehr S, Downs J, Bebbington A, Leonard H. Atypical presentations and specific genotypes are associated with a delay in diagnosis in diagnosis in females with Rett syndrome. American Journal of Medical Genetics Part A. 2010; 152A:2535-2542.
Downs J, Geranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H. Linking MECP2 and pain sensitivity: the example of Rett syndrome. American Journal of Medical Genetics Part A. 2010; 152A(5):1197-1205.
Downs J, Bebbington A, Jacoby P, Williams AM, Ghosh S, Kaufmann WE, Leonard H. Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Developmental Medicine and Child Neurology. 2010; 52(9):817-823.
Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Movement Disorders. 2010; 25(3):282-288.
Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Journal of Medical Genetics. 2010; 47(4):242-248.
Zeev BB, Bebbington A, Ho G, Leonard H, de Klerk N, Gak E, Vecsler M, Christodoulou J. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology. 2009; 72(14):1242-7.
Louise S, Fyfe S, Bebbington A, Bahi-Buisson N, Anderson A, Pineda M, Percy A, Zeev BB, Wu XR, Bao XH, Leod PM, Armstrong J, Leonard H. InterRett, a model for international data collection in a rare genetic disorder. Research in Autism Spectrum Disorders. 2009; 3(3):639-659.
Dyke P, Mulroy S, Leonard H. Siblings of children with disabilities: challenges and opportunities. Acta Paediatrica. 2009; 98(1):23-4.
Downs J, Young D, de Klerk N, Bebbington A, Baikie G, Leonard H. Impact of scoliosis surgery on activities of daily living in females with Rett syndrome. Journal of Pediatric Orthopedics. 2009; 29(4):369-74.
Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, van Bosse H, Bebbington A, Larsson EL, Smith BG, Baikie G, Fyfe S, Leonard H. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa 1976). 2009; 34(17):E607-17.
Ager S, Downs J, Fyfe S, Leonard H. Parental experiences of scoliosis management in Rett syndrome. Disability and Rehabilitation 2009; 31(23):1917-1924.
Zurynski Y, Frith K, Leonard H, Elliott E. Rare childhood diseases: how should we respond? Archives of Disease in Childhood. 2008; 93(12):1071-1074.
Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H. The diagnosis of autism in a female: could it be Rett syndrome? European Journal of Pediatrics. 2008; 167(6):661-9.
Mulroy S, Robertson L, Aiberti K, Bower C, Leonard H. The impact of having a sibling with an intellectual disability:parental perspectives in two disorders. Journal of Intellectual Disability Research. 2008; 52(3):216-229.
Downs JA, Bebbington A, Jacoby P, Msall ME, McIlroy O, Fyfe S, Bahi-Buisson N, Kaufmann WE, Leonard H. Gross Motor Profile in Rett Syndrome as Determined by Video Analysis. Neuropediatrics. 2008; 39(4):205-210.
Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, Leonard H. Early determinants of fractures in Rett syndrome. Pediatrics. 2008; 121(3):540-6.
Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 2008; 70(11):868-75.
Young D, Nagarajan L, de Klerk N, Jacoby P, Ellaway C, Leonard H. Sleep problems in Rett syndrome. Brain and Development. 2007; 29(10):609-16.
Oddy WH, Webb KG, Baikie G, Thompson SM, Reilly S, Fyfe SD, Young D, Anderson AM, Leonard H. Feeding experiences and growth status in a Rett syndrome population. Journal of Pediatric Gastroenterology and Nutrition. 2007; 45(5):582-90.
Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Seizures in Rett syndrome: an overview from a one-year calendar study. European Journal of Paediatric Neurology. 2007; 11(5):310-7.
Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. European Journal of Human Genetics. 2007; 15(12):1218-29.
Fyfe S, Downs J, McIlroy O, Burford B, Lister J, Reilly S, Laurvick CL, Philippe C, Msall M, Kaufmann WE, Ellaway C, Leonard H. Development of a video-based evaluation tool in Rett syndrome. Journal of Autism and Developmental Disorders. 2007; 37(9):1636-46.
Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. Journal of Medical Genetics. 2007; 44(2):148-52.
Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D. Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. Journal of Medical Genetics. 2006; 43(6):470-477.
Robertson L, Hall S, Jacoby P, Ellaway C, De Klerk N, Leonard H. The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database. American Journal of Medical Genetics- Part B Neuropsychiatrics. 2006; 141(2):177-83.
Laurvick CL, Msall ME, Silburn S, Bower C, de Klerk N, Leonard H. Physical and mental health of mothers caring for a child with Rett syndrome. Pediatrics. 2006; 118(4):e1152-64.
Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H. Rett syndrome in Australia: a review of the epidemiology. The Journal of Pediatrics. 2006; 148(3):347-52.
Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 2006; 67(1):164-166.
Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H. Predictors of seizure onset in Rett syndrome. The Journal of Pediatrics. 2006; 149(4):542-547.
Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H, Christodoulou J, Ravine D, Lazarou L, Grove L, Verity C, Whatley SD, Pitz DT, Sampson JR, Clarke AJ. NTNG1 mutations are a rare cause of Rett syndrome. American Journal of Medical Genetics Part A. 2006; 140A(7):691-694.
Ager S, Fyfe S, Christodoulou J, Jacoby P, Schmitt L, Leonard H. Predictors of scoliosis in Rett syndrome. Journal of Child Neurology. 2006; 21(9):809-813.
Moore H, Leonard H, Fyfe S, de Klerk N, Leonard N. InterRett-The application of bioinformatics to International Rett syndrome research. Annals of Human Biology. 2005; 32(2):228-236.
Moore H, Leonard H, de Klerk N, Robertson I, Fyfe S, Christodoulou J, Weaving L, Davis M, Mulroy S, Colvin L. Health service use in Rett syndrome. Journal of Child Neurology. 2005; 20(1):42-50.
Leonard H, Moore H, Carey M, Fyfe S, Hall S, Robertson L, Wu XR, Bao X, Pan H, Christodoulou J, Williamson S, Klerk N. Genotype and early development in Rett syndrome: The value of international data. Brain and Development. 2005; 27 Suppl 1:S59-68.
Leonard H, Davis MR, Turbett GR, Laing NG, Bower C, Ravine D. Effectiveness of posthumous molecular diagnosis from a kept baby tooth. Lancet. 2005; 366(9496):1584-1584.
Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H. p.R270X MECP2 mutation and mortality in Rett syndrome. European Journal of Human Genetics. 2005; 13(11):1235-1238.
Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. American Journal of Human Genetics. 2004; 75(6):1079-93.
Leonard H, Weaving L, Eastaugh P, Smith L, Delatycki M, Engerstrom IW, Christodoulou J. Trisomy 21 and Rett syndrome: A double burden. Journal of Paediatrics and Child Health. 2004; 40(7):406-409.
Leonard H, Slack-Smith L, Phillips T, Richardson S, D'Orsogna L, Mulroy S. How can the Internet help parents of children with rare neurologic disorders? Journal of Child Neurology. 2004; 19(11):902-907.
Colvin L, Leonard H, De Klerk N, Davis M, Weaving L, Williamson S, Christodoulou J. Refining the phenotype of common mutations in Rett syndrome. Journal of Medical Genetics. 2004; 41:25-30.
Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. American Journal of Medical Genetics Part A. 2003; 118A:103-114.
Umansky R, Watson JS, Colvin L, Fyfe S, Leonard S, de Klerk N, Leonard H. Hand preference, extent of laterality, and functional hand use in Rett syndrome. Journal of Child Neurology. 2003; 18:481-7.
Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M, Ravine D, Fyfe S, de Klerk N, Matsuishi T, Kondo I, Clarke A, Hackwell S, Yamashita Y. Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? Journal of Medical Genetics. 2003; 40:e52.
Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou J, Skjeldal O, Hanefeld F, Kerr A, Tandy A, Ravine D, Clarke A. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics. 2003; 40:380-384.
Fyfe S, Cream A, de Klerk N, Christodoulou J, Leonard H. InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome. Journal of Child Neurology. 2003; 18:709-713.
Colvin L, Fyfe S, Leonard S, Schiavello T, Ellaway C, De Klerk N, Christodoulou J, Msall M, Leonard H. Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood. 2003; 88:38-43.
Raffaele LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. MECP2 mutation type, affected domain, X-inactivation and phenotypic outcome in Rett syndrome. American Journal of Human Genetics. 2001; 69(4):1185.
Leonard H, Silberstein J, Falk R, Houwink-Manville I, Ellaway C, Raffaele LS, Engerstrom IW, Schanen C. Occurrence of Rett syndrome in boys. Journal of Child Neurology. 2001; 16:333-338.
Leonard H, Fyfe S, Leonard S, Msall M. Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective. Disability and Rehabilitation. 2001; 23:107-117.
Leonard H, Fyfe S, Ellaway C. Possible link between skeletal and electrocardiographic abnormalities and autonomic dysfunction in Rett syndrome. In: Kerr AM, Engerström IW, editors. Rett Disorder and the developing Brain. Oxford: Oxford University Press; 2001. p. 265-267.
Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain and Development. 2001; 23:208-211.
Fyfe S, Leonard H, Gelmi R, Tassell A, Strack R. Using the internet to pilot a questionnaire on childhood disability in Rett syndrome. Child: Care, Health and Development. 2001; 27:535-543.
Ellaway CJ, Peat J, Williams K, Leonard H, Christodoulou J. Medium-term open label trial of L-carnitine in Rett syndrome. Brain and Development. 2001; 23(Suppl 1):S85-S89.
Ellaway CJ, Badawi N, Raffaele L, Christodoulou J, Leonard H. A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clinical Dysmorphology. 2001; 10:185-188.
Ellaway C, Peat J, Leonard H, Christodoulou J. Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain and Development. 2001; 23(Suppl 1):S101-S103.
Leonard H, Fyfe S, Dye D, Leonard S. Using genetic epidemiology to study Rett syndrome: the design of a case-control study. Paediatric and Perinatal Epidemiology. 2000; 14(1):85-95.
Leonard H, Fyfe S, Dye D, Hockey A, Christodoulou J. Family data in Rett syndrome: Association with other genetic disorders. Journal of Paediatrics and Child Health. 2000; 36:336-339.
Gill HK, Cheadle JP, Maynard J, Fleming N, Kerr A, Leonard H, Thompson EM, Hanefeld F, Skjeldal O, Sampson J, Clarke A. MECP2 analysis in possible familial Rett syndrome. American Journal of Human Genetics. 2000; 67(4):706.
Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location (vol 9, pg 1119, 2000). Human Molecular Genetics. 2000; 9(11):1717-1717.
Leonard H, Thomson MR, Glasson EJ, Fyfe S, Leonard S, Bower C, Christodoulou J, Ellaway C. A population-based approach to the investigation of osteopenia in Rett syndrome. Developmental Medicine and Child Neurology. 1999; 41:323-328.
Leonard H, Thomson M, Glasson E, Fyfe S, Leonard S, Ellaway C, Christodoulou J, Bower C. Metacarpophalangeal pattern profile and bone age in Rett syndrome: Further radiological clues to the diagnosis. American Journal of Medical Genetics. 1999; 83:88-95.
Leonard H, Fyfe S, Dye D, Leonard S. Familial aggregation in Rett syndrome: What is the evidence for clustering of other disorders in the families of affected girls? American Journal of Medical Genetics. 1999; 82:228-234.
Fyfe S, Leonard H, Dye D, Leonard S. Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome. Journal of Child Neurology. 1999; 14:440-445.
Ellaway CJ, Sholler G, Leonard H, Christodoulou J. Prolonged QT interval in Rett syndrome. Archives of Disease in Childhood. 1999; 80:470-472.
Ellaway C, Williams K, Leonard H, Higgins G, Wilcken B, Christodoulou J. Rett Syndrome: Randomized controlled trial of L-carnitine. Journal of Child Neurology. 1999; 14:162-167.
Leonard H, Bower C. Is the girl with Rett syndrome normal at birth? Developmental Medicine and Child Neurology. 1998; 40:115-121.
Glasson EJ, Bower C, Thomson MR, Fyfe S, Leonard S, Rousham E, Christodoulou J, Ellaway C, Leonard H. Diagnosis of Rett syndrome: can a radiograph help? Developmental Medicine and Child Neurology. 1998; 40:737-742.
Ellaway C, Buchholz T, Smith A, Leonard H, Christodoulou J. Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status. Journal of Child Neurology. 1998; 13:448-451.
Leonard H, Walsh P, Hockey A. Further documentation of familial Rett syndrome. European Child & Adolescent Psychiatry. 1997; 6:92-92.
Leonard H, Silberstein P, Hockey A, Fabian V, Milligan J. A case of variant Rett syndrome with unusual neuropathological findings. European Child & Adolescent Psychiatry. 1997; 6:79-79.
Leonard H, Bower C, English D. The prevalence and incidence of Rett syndrome in Australia. European Child and Adolescent Psychiatry. 1997; 6(Suppl 1):8-10.
Leonard H. Rett syndrome in Australia [MPH thesis]. Perth: University of Western Australia; 1996.
Leonard H, Thomson M, Bower C, Fyfe S, Constantinou J. Skeletal abnormalities in Rett Syndrome: Increasing evidence for dysmorphogenetic defects. American Journal of Medical Genetics. 1995; 58:282-285.
Leonard H. The genetics of Rett syndrome. Bull Hum Genet Soc Australas. 1994; 7:18-20.
Leonard H. Rett's syndrome: opportunity for Australian study (letter). The Medical Journal of Australia. 1993; 159:832.