| Rett syndrome: revised diagnostic criteria and nomenclature JL Neul, WE Kaufmann, DG Glaze, J Christodoulou, AJ Clarke, ... Annals of neurology 68 (6), 944-950, 2010 | 1477 | 2010 |
| The epidemiology of mental retardation: challenges and opportunities in the new millennium H Leonard, X Wen Mental retardation and developmental disabilities research reviews 8 (3 …, 2002 | 911 | 2002 |
| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation LS Weaving, J Christodoulou, SL Williamson, KL Friend, OLD McKenzie, ... The American Journal of Human Genetics 75 (6), 1079-1093, 2004 | 566 | 2004 |
| Association of genetic and environmental factors with autism in a 5-country cohort D Bai, BHK Yip, GC Windham, A Sourander, R Francis, R Yoffe, ... JAMA psychiatry 76 (10), 1035-1043, 2019 | 533 | 2019 |
| Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study VA Morgan, H Leonard, J Bourke, A Jablensky The British Journal of Psychiatry 193 (5), 364-372, 2008 | 421 | 2008 |
| Rett syndrome in Australia: a review of the epidemiology CL Laurvick, N De Klerk, C Bower, J Christodoulou, D Ravine, C Ellaway, ... The Journal of pediatrics 148 (3), 347-352, 2006 | 372 | 2006 |
| The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison HO Atladottir, D Gyllenberg, A Langridge, S Sandin, SN Hansen, ... European child & adolescent psychiatry 24, 173-183, 2015 | 353 | 2015 |
| Autism risk associated with parental age and with increasing difference in age between the parents S Sandin, D Schendel, P Magnusson, C Hultman, P Surén, E Susser, ... Molecular psychiatry 21 (5), 693-700, 2016 | 346 | 2016 |
| Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location JP Cheadle, H Gill, N Fleming, J Maynard, A Kerr, H Leonard, ... Human molecular genetics 9 (7), 1119-1129, 2000 | 331 | 2000 |
| The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy S Fehr, M Wilson, J Downs, S Williams, A Murgia, S Sartori, M Vecchi, ... European Journal of Human Genetics 21 (3), 266-273, 2013 | 306 | 2013 |
| Investigating genotype–phenotype relationships in Rett syndrome using an international data set A Bebbington, A Anderson, D Ravine, S Fyfe, M Pineda, N De Klerk, ... Neurology 70 (11), 868-875, 2008 | 274 | 2008 |
| Autism spectrum disorders in young children: effect of changes in diagnostic practices N Nassar, G Dixon, J Bourke, C Bower, E Glasson, N De Klerk, H Leonard International journal of epidemiology 38 (5), 1245-1254, 2009 | 231 | 2009 |
| The impact of having a sibling with an intellectual disability: Parental perspectives in two disorders S Mulroy, L Robertson, K Aiberti, H Leonard, C Bower Journal of Intellectual Disability Research 52 (3), 216-229, 2008 | 228 | 2008 |
| Clinical and biological progress over 50 years in Rett syndrome H Leonard, S Cobb, J Downs Nature Reviews Neurology 13 (1), 37-51, 2017 | 206 | 2017 |
| Young adults with intellectual disability transitioning from school to post-school: A literature review framed within the ICF KR Foley, P Dyke, S Girdler, J Bourke, H Leonard Disability and Rehabilitation 34 (20), 1747-1764, 2012 | 200 | 2012 |
| Maltreatment risk among children with disabilities MJ Maclean, S Sims, C Bower, H Leonard, FJ Stanley, M O’Donnell Pediatrics 139 (4), 2017 | 191 | 2017 |
| Cyclin-dependent kinase-like 5 deficiency disorder: clinical review HE Olson, ST Demarest, EM Pestana-Knight, LC Swanson, S Iqbal, D Lal, ... Pediatric neurology 97, 18-25, 2019 | 188 | 2019 |
| Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays Y Zurynski, M Deverell, T Dalkeith, S Johnson, J Christodoulou, ... Orphanet journal of rare diseases 12, 1-9, 2017 | 180 | 2017 |
| Rare childhood diseases: how should we respond? Y Zurynski, K Frith, H Leonard, E Elliott Archives of disease in childhood 93 (12), 1071-1074, 2008 | 178 | 2008 |
| Maternal conditions and perinatal characteristics associated with autism spectrum disorder and intellectual disability AT Langridge, EJ Glasson, N Nassar, P Jacoby, C Pennell, R Hagan, ... PloS one 8 (1), e50963, 2013 | 177 | 2013 |
