| 1 | “What about us?”‐ the drawbacks of current bruxism assessment criteria in evaluating vulnerable groups | 2.6 | 0 | Citations (PDF) |
| 2 | Growth patterns in individuals with <scp>CDKL5</scp> deficiency disorder | 3.7 | 3 | Citations (PDF) |
| 3 | Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study | 1.9 | 7 | Citations (PDF) |
| 4 | Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database | 6.8 | 5 | Citations (PDF) |
| 5 | Parent‐reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review | 1.9 | 2 | Citations (PDF) |
| 6 | Psychometric evaluation of clinician‐ and caregiver‐reported clinical severity assessments for individuals with <scp>CDKL5</scp> deficiency disorder | 5.0 | 5 | Citations (PDF) |
| 7 | Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome | 3.7 | 5 | Citations (PDF) |
| 8 | Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study | 1.6 | 5 | Citations (PDF) |
| 9 | Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial | 3.7 | 9 | Citations (PDF) |
| 10 | Australian children living with rare diseases: health service use and barriers to accessing care | 2.5 | 23 | Citations (PDF) |
| 11 | Genotype and sleep independently predict mental health in Rett syndrome: an observational study | 3.7 | 7 | Citations (PDF) |
| 12 | How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome | 1.7 | 2 | Citations (PDF) |
| 13 | Modifiable child and caregiver factors that influence community participation among children with Down syndrome | 2.4 | 14 | Citations (PDF) |
| 14 | Oral health education and promotion in special needs children: Systematic review and meta‐analysis | 2.6 | 11 | Citations (PDF) |
| 15 | Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort study | 2.4 | 7 | Citations (PDF) |
| 16 | Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia | 1.6 | 3 | Citations (PDF) |
| 17 | Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study | 2.0 | 18 | Citations (PDF) |
| 18 | Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder | 5.0 | 18 | Citations (PDF) |
| 19 | Devising a Missing Data Rule for a Quality of Life Questionnaire—A Simulation Study | 1.8 | 2 | Citations (PDF) |
| 20 | Child protection involvement of children of mothers with intellectual disability | 3.0 | 21 | Citations (PDF) |
| 21 | The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child | 1.8 | 13 | Citations (PDF) |
| 22 | Modelling quality of life in children with intellectual disability using regression trees | 3.7 | 13 | Citations (PDF) |
| 23 | Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome | 2.3 | 2 | Citations (PDF) |
| 24 | Enablers and barriers in dental attendance in Rett syndrome: an international observational study | 1.1 | 8 | Citations (PDF) |
| 25 | Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome | 3.3 | 15 | Citations (PDF) |
| 26 | Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study | 2.4 | 15 | Citations (PDF) |
| 27 | A brief history of MECP2 duplication syndrome: 20-years of clinical understanding | 3.3 | 48 | Citations (PDF) |
| 28 | Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin‐dependent kinase‐like 5 deficiency disorder | 4.2 | 12 | Citations (PDF) |
| 29 | CDKL5 deficiency disorder: clinical features, diagnosis, and management | 12.9 | 113 | Citations (PDF) |
| 30 | Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database | 1.7 | 4 | Citations (PDF) |
| 31 | Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder | 3.6 | 14 | Citations (PDF) |
| 32 | Determinants of quality of life in Rett syndrome: new findings on associations with genotype | 3.7 | 13 | Citations (PDF) |
| 33 | Exploring genotype‐phenotype relationships in the <scp>CDKL5</scp> deficiency disorder using an international dataset | 2.2 | 33 | Citations (PDF) |
| 34 | Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder | 1.9 | 43 | Citations (PDF) |
| 35 | Functioning, participation, and quality of life in children with intellectual disability: an observational study | 3.7 | 73 | Citations (PDF) |
| 36 | Oral health care and service utilisation in individuals with Rett syndrome: an international cross‐sectional study | 2.1 | 11 | Citations (PDF) |
| 37 | Comorbidities and quality of life in children with intellectual disability | 2.3 | 44 | Citations (PDF) |
| 38 | Determinants of sleep problems in children with intellectual disability | 4.2 | 23 | Citations (PDF) |
| 39 | The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distress | 2.2 | 7 | Citations (PDF) |
| 40 | Optimal interpregnancy interval in autism spectrum disorder: A multi‐national study of a modifiable risk factor | 5.1 | 9 | Citations (PDF) |
| 41 | Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder | 1.8 | 22 | Citations (PDF) |
| 42 | Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study | 2.3 | 3 | Citations (PDF) |
| 43 | 850Description of total population hospital admissions for Craniosynostosis in Australia | 5.2 | 0 | Citations (PDF) |
| 44 | The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder | 1.9 | 36 | Citations (PDF) |
| 45 | Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome | 2.0 | 5 | Citations (PDF) |
| 46 | Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome | 2.4 | 16 | Citations (PDF) |
| 47 | Hospital admissions in children with developmental disabilities from ethnic minority backgrounds | 3.7 | 8 | Citations (PDF) |
| 48 | Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being | 3.1 | 17 | Citations (PDF) |
| 49 | Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability | 2.0 | 10 | Citations (PDF) |
| 50 | Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behaviour Questionnaire | 1.8 | 12 | Citations (PDF) |
| 51 | Reliability of the Quality of Life Inventory-Disability Measure in Children with Intellectual Disability | 1.8 | 25 | Citations (PDF) |
| 52 | Prevalence estimates of mental health problems in children and adolescents with intellectual disability: A systematic review and meta-analysis | 2.8 | 158 | Citations (PDF) |
| 53 | Stillbirth risk prediction using machine learning for a large cohort of births from Western Australia, 1980–2015 | 3.7 | 60 | Citations (PDF) |
| 54 | Cyclin-dependent–like kinase 5 is required for pain signaling in human sensory neurons and mouse models | 13.7 | 19 | Citations (PDF) |
| 55 | Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory? | 1.7 | 17 | Citations (PDF) |
| 56 | Systematic Review and Meta-analysis: Mental Health in Children With Neurogenetic Disorders Associated With Intellectual Disability | 0.5 | 65 | Citations (PDF) |
| 57 | The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort study | 1.9 | 7 | Citations (PDF) |
| 58 | Gastrostomy and quality of life in children with intellectual disability: a qualitative study | 1.6 | 10 | Citations (PDF) |
| 59 | A preliminary investigation of the effects of prenatal alcohol exposure on facial morphology in children with Autism Spectrum Disorder | 0.9 | 8 | Citations (PDF) |
| 60 | Implementing telehealth support to increase physical activity in girls and women with Rett syndrome<i>—</i>ActivRett: protocol for a waitlist randomised controlled trial | 2.0 | 4 | Citations (PDF) |
| 61 | Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort | 11.3 | 497 | Citations (PDF) |
| 62 | Requirements for improving health and well‐being of children with Prader‐Willi syndrome and their families | 1.0 | 15 | Citations (PDF) |
| 63 | Are preterm birth and intra-uterine growth restriction more common in Western Australian children of immigrant backgrounds? A population based data linkage study | 2.5 | 9 | Citations (PDF) |
| 64 | Predicting Long-Term Survival Without Major Disability for Infants Born Preterm | 2.0 | 18 | Citations (PDF) |
| 65 | Very Early Identification and Intervention for Infants at Risk of Neurodevelopmental Disorders: A Transdiagnostic Approach | 4.7 | 47 | Citations (PDF) |
| 66 | The Brain Basis of Comorbidity in Neurodevelopmental Disorders | 1.9 | 10 | Citations (PDF) |
| 67 | Content validation of the Quality of Life Inventory—Disability | 2.3 | 32 | Citations (PDF) |
| 68 | Genetic and epigenetic influences on the phenotype of Rett syndrome 2019, , 183-217 | | 2 | Citations (PDF) |
| 69 | Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study | 2.3 | 11 | Citations (PDF) |
| 70 | Birth seasonality and risk of autism spectrum disorder | 5.4 | 44 | Citations (PDF) |
| 71 | Severity Assessment in CDKL5 Deficiency Disorder | 1.8 | 66 | Citations (PDF) |
| 72 | Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study | 0.5 | 86 | Citations (PDF) |
| 73 | Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review | 1.8 | 205 | Citations (PDF) |
| 74 | The incidence, prevalence and clinical features of<i>MECP2</i>duplication syndrome in Australian children | 1.0 | 38 | Citations (PDF) |
| 75 | Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder | 1.9 | 24 | Citations (PDF) |
| 76 | Association between interpregnancy interval and adverse birth outcomes in women with a previous stillbirth: an international cohort study | 14.8 | 56 | Citations (PDF) |
| 77 | Assessing the quality, efficiency and usefulness of the Western Australian population-based Intellectual Disability Exploring Answers (IDEA) surveillance system: a surveillance system evaluation | 2.0 | 1 | Citations (PDF) |
| 78 | Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability Research | 1.4 | 23 | Citations (PDF) |
| 79 | Association Between Interpregnancy Interval and Adverse Birth Outcomes in Women With a Previous Stillbirth: An International Cohort Study | 0.5 | 0 | Citations (PDF) |
| 80 | A Population-Based Matched-Sibling Analysis Estimating the Associations Between First Interpregnancy Interval and Birth Outcomes | 3.6 | 27 | Citations (PDF) |
| 81 | Regan et al. Reply to “Sibling Comparison Design in Birth-Spacing Studies” | 3.6 | 0 | Citations (PDF) |
| 82 | A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder | 1.7 | 20 | Citations (PDF) |
| 83 | Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage Evaluation | 2.0 | 27 | Citations (PDF) |
| 84 | Parent-observed thematic data on quality of life in children with autism spectrum disorder | 6.0 | 25 | Citations (PDF) |
| 85 | Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome | 2.4 | 13 | Citations (PDF) |
| 86 | Maltreatment Risk Among Children With Disabilities 2019, , 117-126 | | 0 | Citations (PDF) |
| 87 | An Exploration of the Use of Eye Gaze and Gestures in Females With Rett Syndrome | 1.8 | 23 | Citations (PDF) |
| 88 | Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study | 2.0 | 37 | Citations (PDF) |
| 89 | Respiratory morbidity in Rett syndrome: an observational study | 3.7 | 29 | Citations (PDF) |
| 90 | Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia | 2.0 | 27 | Citations (PDF) |
| 91 | Parent‐reported health‐related quality of life of children with Down syndrome: a descriptive study | 3.7 | 30 | Citations (PDF) |
| 92 | Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices | 1.7 | 42 | Citations (PDF) |
| 93 | Choice making in Rett syndrome: a descriptive study using video data | 2.4 | 12 | Citations (PDF) |
| 94 | The prevalence of mental health disorders and symptoms in children and adolescents with cerebral palsy: a systematic review and meta‐analysis | 3.7 | 120 | Citations (PDF) |
| 95 | What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses | 1.2 | 12 | Citations (PDF) |
| 96 | Sleep, if you can | 1.6 | 3 | Citations (PDF) |
| 97 | Risk of Stillbirth, Preterm Delivery, and Fetal Growth Restriction Following Exposure in a Previous Birth: Systematic Review and Meta-analysis | 0.5 | 2 | Citations (PDF) |
| 98 | Intellectual Disability in Children Conceived Using Assisted Reproductive Technology | 4.0 | 27 | Citations (PDF) |
| 99 | Oral health experiences of individuals with Rett syndrome: a retrospective study | 2.8 | 12 | Citations (PDF) |
| 100 | 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 | 2.0 | 11 | Citations (PDF) |
| 101 | Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder | 1.9 | 47 | Citations (PDF) |
| 102 | Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial | 3.3 | 58 | Citations (PDF) |
| 103 | Evolving Trends of Gastrostomy Insertion Within a Pediatric Population | 2.5 | 35 | Citations (PDF) |
| 104 | An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome | 2.5 | 43 | Citations (PDF) |
| 105 | Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder | 3.4 | 33 | Citations (PDF) |
| 106 | Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure | 2.2 | 86 | Citations (PDF) |
| 107 | Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability | 2.3 | 19 | Citations (PDF) |
| 108 | Apgar score and risk of autism | 5.4 | 38 | Citations (PDF) |
| 109 | Intellectual Disability in Children with Congenital Heart Defects in Western Australia | 0.1 | 1 | Citations (PDF) |
| 110 | Risk and protective factors for the health of primary care-givers of children with autism spectrum disorders or intellectual disability: a narrative review | 0.1 | 6 | Citations (PDF) |
| 111 | Evaluation of the Western Australian population based data linkage Intellectual Disability Exploring Answers (IDEA) surveillance system | 0.1 | 0 | Citations (PDF) |
| 112 | Caesarean section and risk of autism across gestational age: a multi-national cohort study of 5 million births | 5.2 | 51 | Citations (PDF) |
| 113 | Maltreatment Risk Among Children With Disabilities | 4.0 | 121 | Citations (PDF) |
| 114 | Quantification of walking‐based physical activity and sedentary time in individuals with Rett syndrome | 3.7 | 28 | Citations (PDF) |
| 115 | Use of the ketogenic diet to manage refractory epilepsy in <scp>CDKL</scp>5 disorder: Experience of >100 patients | 5.0 | 65 | Citations (PDF) |
| 116 | Risk of Mortality into Adulthood According to Gestational Age at Birth | 2.0 | 19 | Citations (PDF) |
| 117 | Measurement of Sedentary Behaviors or “Downtime” in Rett Syndrome | 1.8 | 12 | Citations (PDF) |
| 118 | Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia | 2.0 | 29 | Citations (PDF) |
| 119 | Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study | 3.7 | 41 | Citations (PDF) |
| 120 | Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life | 3.3 | 58 | Citations (PDF) |
| 121 | Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays | 3.3 | 174 | Citations (PDF) |
| 122 | Building the repertoire of measures of walking in Rett syndrome | 2.4 | 24 | Citations (PDF) |
| 123 | <i>CDKL5</i>
variants | 2.7 | 70 | Citations (PDF) |
| 124 | Rare disease: a national survey of paediatricians’ experiences and needs | 1.7 | 55 | Citations (PDF) |
| 125 | Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome | 1.8 | 44 | Citations (PDF) |
| 126 | Feasibility of Assessing Diet with a Mobile Food Record for Adolescents and Young Adults with Down Syndrome | 4.6 | 14 | Citations (PDF) |
| 127 | Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability | 2.3 | 32 | Citations (PDF) |
| 128 | The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future Research | 2.2 | 26 | Citations (PDF) |
| 129 | Parental perspectives on the communication abilities of their daughters with Rett syndrome | 1.5 | 40 | Citations (PDF) |
| 130 | Validating the Rett Syndrome Gross Motor Scale | 2.5 | 60 | Citations (PDF) |
| 131 | How can clinical ethics guide the management of comorbidities in the child with Rett syndrome? | 1.0 | 1 | Citations (PDF) |
| 132 | Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study | 3.7 | 31 | Citations (PDF) |
| 133 | Population-Based Prevalence of Intellectual Disability and Autism Spectrum Disorders in Western Australia | 1.3 | 95 | Citations (PDF) |
| 134 | Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their Child | 2.3 | 5 | Citations (PDF) |
| 135 | Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype | 1.7 | 50 | Citations (PDF) |
| 136 | Association of gestational age and growth measures at birth with infection-related admissions to hospital throughout childhood: a population-based, data-linkage study from Western Australia | 8.9 | 140 | Citations (PDF) |
| 137 | Transition to adulthood for young people with intellectual disability: the experiences of their families | 3.4 | 79 | Citations (PDF) |
| 138 | Functional abilities in children and adults with the CDKL5 disorder | 1.7 | 87 | Citations (PDF) |
| 139 | Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder | 1.2 | 96 | Citations (PDF) |
| 140 | Quantitative und qualitative Einblicke in die Erfahrungen von Kindern mit Rett-Syndrom und ihren Familien | 1.3 | 21 | Citations (PDF) |
| 141 | Twenty‐five–year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010 | 1.6 | 6 | Citations (PDF) |
| 142 | Health care utilization and costs for children and adults with duchenne muscular dystrophy | 2.7 | 22 | Citations (PDF) |
| 143 | Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome | 3.3 | 113 | Citations (PDF) |
| 144 | Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods | 1.7 | 61 | Citations (PDF) |
| 145 | Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study | 6.0 | 18 | Citations (PDF) |
| 146 | Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades | 2.0 | 73 | Citations (PDF) |
| 147 | The Natural History of Scoliosis in Females With Rett Syndrome | 2.5 | 65 | Citations (PDF) |
| 148 | Family satisfaction following spinal fusion in Rett syndrome | 1.5 | 7 | Citations (PDF) |
| 149 | Clinical and biological progress over 50 years in Rett syndrome | 27.5 | 184 | Citations (PDF) |
| 150 | Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence | 2.5 | 54 | Citations (PDF) |
| 151 | Young People with Intellectual Disability Transitioning to Adulthood: Do Behaviour Trajectories Differ in Those with and without Down Syndrome? | 2.5 | 56 | Citations (PDF) |
| 152 | Patterns of Depressive Symptoms and Social Relating Behaviors Differ Over Time From Other Behavioral Domains for Young People With Down Syndrome | 1.3 | 20 | Citations (PDF) |
| 153 | A validation study of a modified Bouchard activity record that extends the concept of ‘uptime’ to Rett syndrome | 3.7 | 14 | Citations (PDF) |
| 154 | Aspects of speech‐language abilities are influenced by <i>MECP2</i> mutation type in girls with Rett syndrome | 1.7 | 32 | Citations (PDF) |
| 155 | Changes in Caesarean Delivery Rates in <scp>W</scp>estern <scp>A</scp>ustralia from 1995 to 2010 by Gestational Age at Birth | 2.3 | 4 | Citations (PDF) |
| 156 | Maternal mental health and risk of child protection involvement: mental health diagnoses associated with increased risk | 3.4 | 80 | Citations (PDF) |
| 157 | Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study | 3.1 | 26 | Citations (PDF) |
| 158 | There is variability in the attainment of developmental milestones in the CDKL5 disorder | 3.7 | 93 | Citations (PDF) |
| 159 | Family perspectives and recovery of motor skills following surgical correction of scoliosis in Rett syndrome | 0.6 | 0 | Citations (PDF) |
| 160 | Longitudinal bone mineral content and density in Rett syndrome and their contributing factors | 3.5 | 14 | Citations (PDF) |
| 161 | Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders | 2.4 | 30 | Citations (PDF) |
| 162 | The trajectories of sleep disturbances in Rett syndrome | 4.2 | 96 | Citations (PDF) |
| 163 | Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring | 2.3 | 21 | Citations (PDF) |
| 164 | Autism risk associated with parental age and with increasing difference in age between the parents | 8.4 | 224 | Citations (PDF) |
| 165 | Association of Gestational Age at Birth with Reasons for Subsequent Hospitalisation: 18 Years of Follow-Up in a Western Australian Population Study | 2.5 | 43 | Citations (PDF) |
| 166 | Early Mortality and Primary Causes of Death in Mothers of Children with Intellectual Disability or Autism Spectrum Disorder: A Retrospective Cohort Study | 2.5 | 30 | Citations (PDF) |
| 167 | Community participation for girls and women living with Rett syndrome | 2.4 | 14 | Citations (PDF) |
| 168 | Perspectives on hand function in girls and women with Rett syndrome | 1.5 | 23 | Citations (PDF) |
| 169 | Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome | 3.7 | 15 | Citations (PDF) |
| 170 | Community participation: Conversations with parent-carers of young women with Rett syndrome | 2.1 | 11 | Citations (PDF) |
| 171 | Twenty years of surveillance in Rett syndrome: what does this tell us? | 3.3 | 122 | Citations (PDF) |
| 172 | Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome | 3.3 | 14 | Citations (PDF) |
| 173 | “I have a good life”: the meaning of well-being from the perspective of young adults with Down syndrome | 2.4 | 50 | Citations (PDF) |
| 174 | Hospital Admissions and Gestational Age at Birth: 18 Years of Follow Up in <scp>W</scp>estern <scp>A</scp>ustralia | 2.3 | 21 | Citations (PDF) |
| 175 | Relationship between family quality of life and day occupations of young people with Down syndrome | 2.9 | 29 | Citations (PDF) |
| 176 | Experience of Gastrostomy Using a Quality Care Framework | 1.3 | 24 | Citations (PDF) |
| 177 | The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison | 3.4 | 232 | Citations (PDF) |
| 178 | Health Conditions and Their Impact among Adolescents and Young Adults with Down Syndrome | 2.5 | 69 | Citations (PDF) |
| 179 | Influence of the Environment on Participation in Social Roles for Young Adults with Down Syndrome | 2.5 | 30 | Citations (PDF) |
| 180 | The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends | 2.3 | 35 | Citations (PDF) |
| 181 | Neonatal outcomes after preterm birth by mothers’ health insurance status at birth: a retrospective cohort study | 2.7 | 11 | Citations (PDF) |
| 182 | Pubertal trajectory in females with Rett syndrome: A population-based study | 1.2 | 14 | Citations (PDF) |
| 183 | Intellectual disability: population‐based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy | 3.7 | 63 | Citations (PDF) |
| 184 | Hospitalisation rates for children with intellectual disability or autism born in Western Australia 1983–1999: a population-based cohort study | 2.0 | 43 | Citations (PDF) |
| 185 | Neonatal complications in public and private patients: a retrospective cohort study | 2.0 | 8 | Citations (PDF) |
| 186 | Caring for a child with severe intellectual disability in China: The example of Rett syndrome | 2.4 | 16 | Citations (PDF) |
| 187 | Assessment and Management of Nutrition and Growth in Rett Syndrome | 2.5 | 58 | Citations (PDF) |
| 188 | Resourceful and creative methods are necessary to research rare disorders | 3.7 | 3 | Citations (PDF) |
| 189 | Using a large international sample to investigate epilepsy in <scp>R</scp>ett syndrome | 3.7 | 55 | Citations (PDF) |
| 190 | Role of public and private funding in the rising caesarean section rate: a cohort study | 2.0 | 37 | Citations (PDF) |
| 191 | Hospital Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth | 2.5 | 76 | Citations (PDF) |
| 192 | Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism | 0.0 | 11 | Citations (PDF) |
| 193 | Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual Disability | 2.5 | 123 | Citations (PDF) |
| 194 | Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome | 2.4 | 18 | Citations (PDF) |
| 195 | “It’s not what you were expecting, but it’s still a beautiful journey”: the experience of mothers of children with Down syndrome | 2.4 | 60 | Citations (PDF) |
| 196 | Young adults with intellectual disability transitioning from school to post-school: A literature review framed within the ICF | 2.4 | 107 | Citations (PDF) |
| 197 | The phenotype associated with a large deletion on MECP2 | 3.6 | 31 | Citations (PDF) |
| 198 | To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of Wellbeing | 1.9 | 81 | Citations (PDF) |
| 199 | Barriers to diagnosis of a rare neurological disorder in China—Lived experiences of Rett syndrome families | 1.7 | 17 | Citations (PDF) |
| 200 | The diagnostic odyssey to Rett syndrome: The experience of an Australian family | 1.7 | 13 | Citations (PDF) |
| 201 | The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy | 3.6 | 264 | Citations (PDF) |
| 202 | The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population | 2.1 | 18 | Citations (PDF) |
| 203 | Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome | 2.1 | 18 | Citations (PDF) |
| 204 | Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome | 2.1 | 13 | Citations (PDF) |
| 205 | Autism and Intellectual Disability Are Differentially Related to Sociodemographic Background at Birth | 2.5 | 124 | Citations (PDF) |
| 206 | P2-542 Population level investigation of hospital dental admissions for children under 5 years with intellectual disability | 3.4 | 0 | Citations (PDF) |
| 207 | Variation Over Time in Medical Conditions and Health Service Utilization of Children with Down Syndrome | 2.0 | 59 | Citations (PDF) |
| 208 | Direct Health Care Costs of Children and Adolescents with Down Syndrome | 2.0 | 43 | Citations (PDF) |
| 209 | A Comparison of Autism Prevalence Trends in Denmark and Western Australia | 2.3 | 76 | Citations (PDF) |
| 210 | Bone Mineral Content and Density in Rett Syndrome and Their Contributing Factors | 2.4 | 42 | Citations (PDF) |
| 211 | Trends in the Diagnosis of Rett Syndrome in Australia | 2.4 | 138 | Citations (PDF) |
| 212 | Leisure participation for school-aged children with Down syndrome | 2.4 | 57 | Citations (PDF) |
| 213 | Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period | 1.8 | 35 | Citations (PDF) |
| 214 | Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome | 1.8 | 40 | Citations (PDF) |
| 215 | Monitoring child abuse and neglect at a population level: Patterns of hospital admissions for maltreatment and assault | 3.0 | 33 | Citations (PDF) |
| 216 | Linking <i>MECP2</i> and pain sensitivity: The example of Rett syndrome | 1.7 | 92 | Citations (PDF) |
| 217 | Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome | 1.7 | 32 | Citations (PDF) |
| 218 | Rett syndrome: Revised diagnostic criteria and nomenclature | 6.5 | 1,235 | Citations (PDF) |
| 219 | Stereotypical hand movements in 144 subjects with Rett syndrome from the population‐based Australian database | 5.3 | 58 | Citations (PDF) |
| 220 | Hip displacement and scoliosis in Rett syndrome – screening is required | 3.7 | 19 | Citations (PDF) |
| 221 | Level of purposeful hand function as a marker of clinical severity in Rett syndrome | 3.7 | 49 | Citations (PDF) |
| 222 | Survival with Rett syndrome: comparing Rett’s original sample with data from the Australian Rett Syndrome Database | 3.7 | 46 | Citations (PDF) |
| 223 | Alterations In Welding Process Parameters Change Particle Characteristics And Influence Lung Responses 2010, , A1746-A1746 | | 0 | Citations (PDF) |
| 224 | Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment: a population-based study | 5.2 | 52 | Citations (PDF) |
| 225 | Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families | 3.7 | 77 | Citations (PDF) |
| 226 | Updating the profile of C-terminal MECP2 deletions in Rett syndrome | 3.7 | 67 | Citations (PDF) |
| 227 | Overview of Health Issues in School-aged Children with Down Syndrome | 0.0 | 13 | Citations (PDF) |
| 228 | Valproate and risk of fracture in Rett syndrome | 1.6 | 37 | Citations (PDF) |
| 229 | Rates and types of hospitalisations for children who have subsequent contact with the child protection system: a population based case-control study | 3.4 | 31 | Citations (PDF) |
| 230 | Unpacking the complex nature of the autism epidemic | 2.1 | 76 | Citations (PDF) |
| 231 | The common
<i>BDNF</i>
polymorphism may be a modifier of disease severity in Rett syndrome | 1.2 | 70 | Citations (PDF) |
| 232 | Parental experiences of scoliosis management in Rett syndrome | 2.4 | 14 | Citations (PDF) |
| 233 | Autism spectrum disorders in young children: effect of changes in diagnostic practices | 5.2 | 129 | Citations (PDF) |
| 234 | Factors associated with dental admissions for children aged under 5 years in Western Australia | 1.6 | 25 | Citations (PDF) |
| 235 | Increasing Prevalence of Neonatal Withdrawal Syndrome: Population Study of Maternal Factors and Child Protection Involvement | 4.0 | 106 | Citations (PDF) |
| 236 | Siblings of children with disabilities: challenges and opportunities | 1.7 | 56 | Citations (PDF) |
| 237 | InterRett, a model for international data collection in a rare genetic disorder | 2.1 | 48 | Citations (PDF) |
| 238 | Impact of Scoliosis Surgery on Activities of Daily Living in Females With Rett Syndrome | 1.4 | 18 | Citations (PDF) |
| 239 | Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical EvidenceSpine, 2009, 34, E607-E617 | 2.5 | 74 | Citations (PDF) |
| 240 | Physical and Mental Health in Mothers of Children with Down Syndrome | 2.0 | 97 | Citations (PDF) |
| 241 | Rare childhood diseases: how should we respond? | 1.6 | 131 | Citations (PDF) |
| 242 | Investigating genotype–phenotype relationships in Rett syndrome using an international data set | 1.2 | 226 | Citations (PDF) |
| 243 | Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study | 2.3 | 290 | Citations (PDF) |
| 244 | Early Determinants of Fractures in Rett Syndrome | 4.0 | 69 | Citations (PDF) |
| 245 | Association of Birth Outcomes and Maternal, School, and Neighborhood Characteristics with Subsequent Numeracy Achievement | 3.6 | 31 | Citations (PDF) |
| 246 | Gross Motor Profile in Rett Syndrome as Determined by Video Analysis | 1.2 | 58 | Citations (PDF) |
| 247 | Relation between Intrauterine Growth and Subsequent Intellectual Disability in a Ten-year Population Cohort of Children in Western Australia | 3.6 | 80 | Citations (PDF) |
| 248 | Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband | 3.6 | 45 | Citations (PDF) |
| 249 | Co-occurrence of birth defects and intellectual disability | 2.3 | 49 | Citations (PDF) |
| 250 | Sleep problems in Rett syndrome | 1.2 | 131 | Citations (PDF) |
| 251 | Seizures in Rett syndrome: An overview from a one-year calendar study | 1.8 | 85 | Citations (PDF) |
| 252 | The diagnosis of autism in a female: could it be Rett syndrome? | 2.3 | 62 | Citations (PDF) |
| 253 | Maternal Health in Pregnancy and Intellectual Disability in the Offspring: A Population-Based Study | 1.7 | 78 | Citations (PDF) |
| 254 | Rett syndrome in Australia: A review of the epidemiology | 2.0 | 311 | Citations (PDF) |
| 255 | Predictors of seizure onset in Rett syndrome | 2.0 | 97 | Citations (PDF) |
| 256 | NTNG1mutations are a rare cause of Rett syndrome | 1.7 | 50 | Citations (PDF) |
| 257 | The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database | 1.8 | 64 | Citations (PDF) |
| 258 | Physical and Mental Health of Mothers Caring for a Child With Rett Syndrome | 4.0 | 77 | Citations (PDF) |
| 259 | Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2 | 3.7 | 27 | Citations (PDF) |
| 260 | Early progressive encephalopathy in boys and
<i>MECP2</i>
mutations | 1.2 | 92 | Citations (PDF) |
| 261 | 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 | 3.7 | 93 | Citations (PDF) |
| 262 | Development of a Video-based Evaluation Tool in Rett Syndrome | 2.3 | 37 | Citations (PDF) |
| 263 | p.R270X MECP2 mutation and mortality in Rett syndrome | 3.6 | 33 | Citations (PDF) |
| 264 | Genotype and early development in Rett syndrome: The value of international data | 1.2 | 33 | Citations (PDF) |
| 265 | Association of sociodemographic characteristics of children with intellectual disability in Western Australia | 4.5 | 102 | Citations (PDF) |
| 266 | Hospitalisations from birth to 5 years in a population cohort of Western Australian children with intellectual disability | 1.6 | 37 | Citations (PDF) |
| 267 | Effectiveness of posthumous molecular diagnosis from a kept baby tooth | 14.8 | 4 | Citations (PDF) |
| 268 | IDEA (Intellectual Disability Exploring Answers): A population-based database for intellectual disability in Western Australia | 1.2 | 69 | Citations (PDF) |
| 269 | Refining the phenotype of common mutations in Rett syndrome | 3.7 | 76 | Citations (PDF) |
| 270 | Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation | 6.5 | 452 | Citations (PDF) |
| 271 | Effects ofMECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype | 2.2 | 105 | Citations (PDF) |
| 272 | Prevalence of intellectual disability in Western Australia | 2.3 | 89 | Citations (PDF) |
| 273 | Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome | 3.7 | 16 | Citations (PDF) |
| 274 | Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? | 3.7 | 77 | Citations (PDF) |
| 275 | The epidemiology of mental retardation: Challenges and opportunities in the new millennium | 3.6 | 531 | Citations (PDF) |
| 276 | Guidelines for reporting clinical features in cases with MECP2 mutations | 1.2 | 144 | Citations (PDF) |
| 277 | Medium-term open label trial of L-carnitine in Rett syndrome | 1.2 | 41 | Citations (PDF) |
| 278 | Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration | 1.2 | 41 | Citations (PDF) |
| 279 | A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening | 0.8 | 10 | Citations (PDF) |
| 280 | Short report: Friedreich's ataxia presenting after cardiac transplantation | 1.6 | 24 | Citations (PDF) |
| 281 | Study methodology. Using genetic epidemiology to study Rett syndrome: the design of a case-control study | 2.3 | 5 | Citations (PDF) |
| 282 | Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location | 3.1 | 255 | Citations (PDF) |
| 283 | Prolonged QT interval in Rett syndrome | 1.6 | 65 | Citations (PDF) |
| 284 | Familial aggregation in Rett syndrome: What is the evidence for clustering of other disorders in the families of affected girls? 1999, 82, 228-234 | | 7 | Citations (PDF) |
| 285 | Metacarpophalangeal pattern profile and bone age in Rett syndrome: Further radiological clues to the diagnosis 1999, 83, 88-95 | | 29 | Citations (PDF) |
| 286 | Medical aspects of school‐aged children with Down syndrome | 3.7 | 8 | Citations (PDF) |
| 287 | Rett's syndrome: opportunity for Australian study | 2.0 | 4 | Citations (PDF) |
| 288 | Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome | 2.4 | 1 | Citations (PDF) |
