Published in Eur J Hum Genet on April 04, 2012
Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol (2016) 0.95
Twenty years of surveillance in Rett syndrome: what does this tell us? Orphanet J Rare Dis (2014) 0.87
Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Mol Cytogenet (2013) 0.84
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet J Rare Dis (2016) 0.83
Validating the Rett Syndrome Gross Motor Scale. PLoS One (2016) 0.83
Experience of gastrostomy using a quality care framework: the example of rett syndrome. Medicine (Baltimore) (2014) 0.82
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. Am J Med Genet A (2016) 0.78
Defects in brainstem neurons associated with breathing and motor function in the Mecp2R168X/Y mouse model of Rett syndrome. Am J Physiol Cell Physiol (2016) 0.77
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
Review: a gentle introduction to imputation of missing values. J Clin Epidemiol (2006) 8.87
Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol (2010) 4.03
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology (2008) 3.74
An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol (2002) 3.26
Rett syndrome in Australia: a review of the epidemiology. J Pediatr (2006) 2.24
Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology (2008) 2.10
Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet (2002) 1.42
Recent advances in MeCP2 structure and function. Biochem Cell Biol (2009) 1.41
Epilepsy and the natural history of Rett syndrome. Neurology (2010) 1.40
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. J Med Genet (2006) 1.35
Describing the phenotype in Rett syndrome using a population database. Arch Dis Child (2003) 1.33
Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet Test (2003) 1.27
RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution. Hum Mutat (2003) 1.27
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet (2005) 1.26
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet (2000) 1.23
Predictors of scoliosis in Rett syndrome. J Child Neurol (2006) 1.20
Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol (2007) 1.17
Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa 1976) (2009) 1.12
Predictors of seizure onset in Rett syndrome. J Pediatr (2006) 1.11
Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res (2011) 1.09
MECP2 deletions and genotype-phenotype correlation in Rett syndrome. Am J Med Genet A (2007) 1.08
Sleep problems in Rett syndrome. Brain Dev (2007) 1.06
Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet (2009) 0.99
Profiling scoliosis in Rett syndrome. Pediatr Res (2010) 0.98
The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology (2009) 0.97
Epilepsy in Rett syndrome: clinical and genetic features. Epilepsy Behav (2010) 0.96
InterRett, a model for international data collection in a rare genetic disorder. Res Autism Spectr Disord (2009) 0.92
Valproate and risk of fracture in Rett syndrome. Arch Dis Child (2010) 0.90
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet (2007) 0.88
InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome. J Child Neurol (2003) 0.86
Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Dev Med Child Neurol (2010) 0.86
Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period. J Child Neurol (2011) 0.86
Longitudinal hand function in Rett syndrome. J Child Neurol (2010) 0.83
The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population. Res Autism Spectr Disord (2011) 0.81
Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol (2010) 4.03
An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol (2002) 3.26
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet (2009) 3.01
Rett syndrome in Australia: a review of the epidemiology. J Pediatr (2006) 2.24
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain (2010) 2.21
Using a large international sample to investigate epilepsy in Rett syndrome. Dev Med Child Neurol (2013) 2.10
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet (2004) 1.88
Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study. Br J Psychiatry (2008) 1.84
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet (2010) 1.83
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics (2008) 1.80
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci U S A (2009) 1.79
Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis (2013) 1.78
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy. Autophagy (2009) 1.65
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet A (2004) 1.63
Intellectual disability: population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy. Dev Med Child Neurol (2012) 1.63
Physical and mental health in mothers of children with Down syndrome. J Pediatr (2008) 1.61
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol (2003) 1.57
The ketogenic diet improves recently worsened focal epilepsy. Dev Med Child Neurol (2008) 1.48
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep (2012) 1.43
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol (2006) 1.41
Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus? Dev Med Child Neurol (2008) 1.39
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. J Med Genet (2006) 1.35
Variation over time in medical conditions and health service utilization of children with Down syndrome. J Pediatr (2011) 1.32
Predictors of scoliosis in Rett syndrome. J Child Neurol (2006) 1.20
Increasing prevalence of neonatal withdrawal syndrome: population study of maternal factors and child protection involvement. Pediatrics (2009) 1.20
Linking MECP2 and pain sensitivity: the example of Rett syndrome. Am J Med Genet A (2010) 1.19
Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol (2007) 1.17
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet (2012) 1.17
The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison. Eur Child Adolesc Psychiatry (2014) 1.16
Autism spectrum disorders in young children: effect of changes in diagnostic practices. Int J Epidemiol (2009) 1.15
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet A (2003) 1.13
Early determinants of fractures in Rett syndrome. Pediatrics (2008) 1.13
Physical and mental health of mothers caring for a child with Rett syndrome. Pediatrics (2006) 1.12
Direct health care costs of children and adolescents with Down syndrome. J Pediatr (2011) 1.12
Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine (Phila Pa 1976) (2009) 1.12
Predictors of seizure onset in Rett syndrome. J Pediatr (2006) 1.11
Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet (2008) 1.10
Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res (2011) 1.09
Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes. Clin Biochem (2008) 1.07
Sleep problems in Rett syndrome. Brain Dev (2007) 1.06
p.R270X MECP2 mutation and mortality in Rett syndrome. Eur J Hum Genet (2005) 1.05
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin Biochem (2007) 1.05
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch Neurol (2009) 1.02
A FOXG1 mutation in a boy with congenital variant of Rett syndrome. Neurogenetics (2010) 1.01
Developmental and benign movement disorders in childhood. Mov Disord (2010) 1.01
Assessment and management of nutrition and growth in Rett syndrome. J Pediatr Gastroenterol Nutr (2013) 1.00
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. Eur J Hum Genet (2012) 1.00
The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. Am J Med Genet B Neuropsychiatr Genet (2006) 0.99
Association of birth outcomes and maternal, school, and neighborhood characteristics with subsequent numeracy achievement. Am J Epidemiol (2008) 0.98
Feeding experiences and growth status in a Rett syndrome population. J Pediatr Gastroenterol Nutr (2007) 0.97
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet (2009) 0.96
MRI findings in 77 children with non-syndromic autistic disorder. PLoS One (2009) 0.96
Bone mineral content and density in Rett syndrome and their contributing factors. Pediatr Res (2011) 0.96
Maternal conditions and perinatal characteristics associated with autism spectrum disorder and intellectual disability. PLoS One (2013) 0.94
The diagnosis of autism in a female: could it be Rett syndrome? Eur J Pediatr (2007) 0.94
Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population. Clin Chim Acta (2006) 0.94
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. Hum Mutat (2010) 0.93
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A (2011) 0.92
NTNG1 mutations are a rare cause of Rett syndrome. Am J Med Genet A (2006) 0.92
Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database. Dev Med Child Neurol (2010) 0.91
A comparison of autism prevalence trends in Denmark and Western Australia. J Autism Dev Disord (2011) 0.91
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy. Epilepsy Res (2008) 0.90
Epilepsy in Rett syndrome--lessons from the Rett networked database. Epilepsia (2015) 0.90
Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Mov Disord (2010) 0.89
Early pattern of epilepsy in the ring chromosome 20 syndrome. Epilepsia (2006) 0.89
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform. Neurogenetics (2008) 0.89
The location of DCX mutations predicts malformation severity in X-linked lissencephaly. Neurogenetics (2008) 0.89
Management of West syndrome in a patient with methylmalonic aciduria. J Child Neurol (2009) 0.89
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. Neurogenetics (2013) 0.89
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease. Hum Mutat (2012) 0.89
Gastrointestinal dysmotility in Rett syndrome. J Pediatr Gastroenterol Nutr (2014) 0.88
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet (2007) 0.88
The International Collaboration for Autism Registry Epidemiology (iCARE): multinational registry-based investigations of autism risk factors and trends. J Autism Dev Disord (2013) 0.87
The Natural History of Scoliosis in Females With Rett Syndrome. Spine (Phila Pa 1976) (2016) 0.87
Twenty years of surveillance in Rett syndrome: what does this tell us? Orphanet J Rare Dis (2014) 0.87
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. Cerebellum (2007) 0.87
Monitoring child abuse and neglect at a population level: patterns of hospital admissions for maltreatment and assault. Child Abuse Negl (2010) 0.87
Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome. J Child Neurol (2011) 0.87
Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients. Mov Disord (2008) 0.87
Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Dev Med Child Neurol (2010) 0.86
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. Eur J Hum Genet (2008) 0.86
Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period. J Child Neurol (2011) 0.86
InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome. J Child Neurol (2003) 0.86
Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome. Am J Med Genet A (2010) 0.86
Epileptic phenotypes in children with respiratory chain disorders. Epilepsia (2010) 0.85