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The fragile X prevalence paradox. J Med Genet (2008) 3.05

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71

Fragile X syndrome: diagnostic and carrier testing. Genet Med (2005) 2.45

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet (2009) 2.12

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95

Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn (2009) 1.94

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med (2012) 1.85

Molecular actions and therapeutic potential of lithium in preclinical and clinical studies of CNS disorders. Pharmacol Ther (2010) 1.39

Absence of metabotropic glutamate receptor-mediated plasticity in the neocortex of fragile X mice. Proc Natl Acad Sci U S A (2007) 1.37

Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization. J Neurodev Disord (2010) 1.34

Fragile X: a family of disorders. Adv Pediatr (2009) 1.30

Lifespan changes in working memory in fragile X premutation males. Brain Cogn (2008) 1.29

A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr (2013) 1.29

The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome. J Clin Sleep Med (2009) 1.25

Fragile X-associated disorders: a clinical overview. J Neurol (2011) 1.13

Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome. J Genet Couns (2009) 1.10

Fragile X syndrome: the FMR1 CGG repeat distribution among world populations. Ann Hum Genet (2011) 1.08

Living with genetic risk: effect on adolescent self-concept. Am J Med Genet C Semin Med Genet (2008) 1.04

Contrast detection in infants with fragile X syndrome. Vision Res (2008) 1.04

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis. J Mol Diagn (2010) 1.01

Motor abilities of children diagnosed with fragile X syndrome with and without autism. J Intellect Disabil Res (2008) 1.01

Aging in fragile X syndrome. J Neurodev Disord (2010) 0.95

The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice. Genes Brain Behav (2012) 0.95

Working memory subsystems and task complexity in young boys with Fragile X syndrome. J Intellect Disabil Res (2010) 0.92

The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge. Clin Biochem Rev (2011) 0.91

Age-dependent cognitive impairment in a Drosophila fragile X model and its pharmacological rescue. Biogerontology (2009) 0.91

Early negative affect predicts anxiety, not autism, in preschool boys with fragile X syndrome. J Abnorm Child Psychol (2013) 0.88

Neuroprotective action of lithium in disorders of the central nervous system. Zhong Nan Da Xue Xue Bao Yi Xue Ban (2011) 0.87

Heart activity and autistic behavior in infants and toddlers with fragile X syndrome. Am J Intellect Dev Disabil (2012) 0.86

Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population. Ann Hum Genet (2010) 0.82

Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome. PLoS One (2011) 0.81

Fragile X syndrome in Korea: a case series and a review of the literature. J Korean Med Sci (2008) 0.80

Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes. EMBO Mol Med (2015) 0.80

FRAGILE X SYNDROME: PSYCHIATRIC MANIFESTATIONS, ASSESSMENT AND EMERGING THERAPIES. Curr Psychiatry Rev (2013) 0.80

Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening. Genet Test Mol Biomarkers (2011) 0.79

Distribution of AGG interruption patterns within nine world populations. Intractable Rare Dis Res (2014) 0.79

Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands. Intractable Rare Dis Res (2015) 0.78

High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique. Genet Test Mol Biomarkers (2009) 0.78

Stranger Fear and Early Risk for Social Anxiety in Preschoolers with Fragile X Syndrome Contrasted to Autism Spectrum Disorder. J Autism Dev Disord (2017) 0.77

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes. Eur J Hum Genet (2011) 0.76

Multiple Drug Treatments That Increase cAMP Signaling Restore Long-Term Memory and Aberrant Signaling in Fragile X Syndrome Models. Front Behav Neurosci (2016) 0.76

Diagnosis of fragile X syndrome: a qualitative study of African American families. J Genet Couns (2011) 0.76

HPA axis function predicts development of working memory in boys with FXS. Brain Cogn (2016) 0.75

Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations. Genes (Basel) (2016) 0.75

Cognitive Aspects of Fragile X syndrome. Wiley Interdiscip Rev Cogn Sci (2014) 0.75

Distribution of the FMR1 gene in females by race/ethnicity: women with diminished ovarian reserve versus women with normal fertility (SWAN study). Fertil Steril (2016) 0.75

Prevalence of autism in a US metropolitan area. JAMA (2003) 10.37

Trends in the prevalence of developmental disabilities in US children, 1997-2008. Pediatrics (2011) 5.61

The FMR1 premutation and reproduction. Fertil Steril (2006) 3.85

Risk of bacterial meningitis in children with cochlear implants. N Engl J Med (2003) 3.75

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71

Racial/ethnic disparities in the identification of children with autism spectrum disorders. Am J Public Health (2008) 2.61

Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. MMWR Surveill Summ (2016) 2.60

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med (2002) 2.49

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet (2009) 2.12

Genetic analysis of variation in human meiotic recombination. PLoS Genet (2009) 2.11

Prevalence of cerebral palsy, co-occurring autism spectrum disorders, and motor functioning - Autism and Developmental Disabilities Monitoring Network, USA, 2008. Dev Med Child Neurol (2013) 2.04

Trends in the prevalence of cerebral palsy in a population-based study. Pediatrics (2002) 1.90

Reduced hippocampal volumes and memory loss in patients with early- and late-onset depression. Br J Psychiatry (2005) 1.90

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet (2004) 1.88

Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med (2010) 1.69

The National Children's Study of environmental effects on child health and development. Environ Health Perspect (2003) 1.68

New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet (2008) 1.68

The relationship between autism and parenting stress. Pediatrics (2007) 1.65

Early intervention for cognitive decline: is there a role for multiple medical or behavioural interventions? Early Interv Psychiatry (2009) 1.64

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population. Circ Cardiovasc Genet (2012) 1.57

8-Oxoguanine-mediated transcriptional mutagenesis causes Ras activation in mammalian cells. Proc Natl Acad Sci U S A (2008) 1.47

Prevalence and Characteristics of Autism Spectrum Disorder Among 4-Year-Old Children in the Autism and Developmental Disabilities Monitoring Network. J Dev Behav Pediatr (2016) 1.44

Prevalence and functioning of children with cerebral palsy in four areas of the United States in 2006: a report from the Autism and Developmental Disabilities Monitoring Network. Res Dev Disabil (2011) 1.39

Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med (2008) 1.36

The National Down Syndrome Project: design and implementation. Public Health Rep (2007) 1.35

Food safety and foodborne disease in 21st century homes. Can J Infect Dis (2003) 1.34

Postservice mortality in Vietnam veterans: 30-year follow-up. Arch Intern Med (2004) 1.34

Prevalence of cerebral palsy: Autism and Developmental Disabilities Monitoring Network, three sites, United States, 2004. Disabil Health J (2009) 1.32

Kernicterus: epidemiological strategies for its prevention through systems-based approaches. J Perinatol (2004) 1.32

No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet (2008) 1.29

Evaluation of a records-review surveillance system used to determine the prevalence of autism spectrum disorders. J Autism Dev Disord (2011) 1.28

Cerebral palsy: classification and epidemiology. Phys Med Rehabil Clin N Am (2009) 1.25

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet (2002) 1.25

Association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet (2004) 1.23

Fragile X analysis of 1112 prenatal samples from 1991 to 2010. Prenat Diagn (2011) 1.23

Changes in autism spectrum disorder prevalence in 4 areas of the United States. Disabil Health J (2010) 1.23

Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet (2008) 1.22

Examination of FMR1 transcript and protein levels among 74 premutation carriers. J Hum Genet (2009) 1.20

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A (2013) 1.19

Identifying children with autism early? Pediatrics (2007) 1.19

Long-term speech and language developmental issues among children with Duarte galactosemia. Genet Med (2009) 1.18

Parent-reported prevalence of autism spectrum disorders in US-born children: an assessment of changes within birth cohorts from the 2003 to the 2007 National Survey of Children's Health. Matern Child Health J (2012) 1.16

Development and validation of the Arizona Cognitive Test Battery for Down syndrome. J Neurodev Disord (2010) 1.15

Juveniles' competence to stand trial: a comparison of adolescents' and adults' capacities as trial defendants. Law Hum Behav (2003) 1.15

The risk of mortality or cerebral palsy in twins: a collaborative population-based study. Pediatr Res (2002) 1.15

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genet Epidemiol (2010) 1.14

The Study to Explore Early Development (SEED): a multisite epidemiologic study of autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) network. J Autism Dev Disord (2012) 1.14

Parental age and autism spectrum disorders. Ann Epidemiol (2012) 1.13

Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers. Behav Genet (2008) 1.12

Caudate nucleus volumes and genetic determinants of homocysteine metabolism in the prediction of psychomotor speed in older persons with depression. Am J Psychiatry (2002) 1.11

Consensus characterization of 16 FMR1 reference materials: a consortium study. J Mol Diagn (2007) 1.09

Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med (2008) 1.08

Bacterial meningitis among children with cochlear implants beyond 24 months after implantation. Pediatrics (2006) 1.08

Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance. Behav Genet (2005) 1.08

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am J Med Genet A (2006) 1.07

The enhancement of vaginal vasocongestion by sildenafil in healthy premenopausal women. J Womens Health Gend Based Med (2002) 1.06

New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS). Neurogenetics (2011) 1.06

Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med (2009) 1.04

Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome. Genet Epidemiol (2004) 1.03

Age at first measles-mumps-rubella vaccination in children with autism and school-matched control subjects: a population-based study in metropolitan atlanta. Pediatrics (2004) 1.03

Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet (2012) 1.03

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet (2012) 1.01

Genetics. Genetic control of hotspots. Science (2010) 1.01

A national action plan for promoting preconception health and health care in the United States (2012-2014). J Womens Health (Larchmt) (2013) 1.00

Neuropsychological clustering highlights cognitive differences in young people presenting with depressive symptoms. J Int Neuropsychol Soc (2011) 1.00

Health of children 3 to 17 years of age with Down syndrome in the 1997-2005 national health interview survey. Pediatrics (2009) 0.99

Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21. Hum Genet (2011) 0.99

Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. Genet Epidemiol (2008) 0.99

Children with cerebral palsy: racial disparities in functional limitations. Epidemiology (2012) 0.97

The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance. Behav Genet (2011) 0.96

Prevalence and impact of unhealthy weight in a national sample of US adolescents with autism and other learning and behavioral disabilities. Matern Child Health J (2014) 0.96

Decisions to participate in fragile X and other genomics-related research: Native American and African American voices. J Cult Divers (2009) 0.94

Committee Report: advancing the current recommended panel of conditions for newborn screening. Genet Med (2007) 0.94

The role of migration and choice of denominator on the prevalence of cerebral palsy. Dev Med Child Neurol (2013) 0.93

Women's attitudes toward testing for fragile X carrier status: a qualitative analysis. J Genet Couns (2005) 0.93

A phase I study of bevacizumab (B) in combination with everolimus (E) and erlotinib (E) in advanced cancer (BEE). Cancer Chemother Pharmacol (2010) 0.93

Smarter clustering methods for SNP genotype calling. Bioinformatics (2008) 0.93

Prevalence and selected characteristics of childhood vision impairment. Dev Med Child Neurol (2002) 0.92

Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects. Am J Med Genet A (2011) 0.92

Dynamic compartmentalization of base excision repair proteins in response to nuclear and mitochondrial oxidative stress. Mol Cell Biol (2008) 0.91

Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project. Am J Med Genet A (2013) 0.90

Impaired implicit sequence learning in depression: a probe for frontostriatal dysfunction? Psychol Med (2005) 0.90

Detection of pre-invasive lung cancer: technical aspects of the LIFE project. Toxicol Pathol (2007) 0.89

Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms. Am J Med Genet B Neuropsychiatr Genet (2012) 0.89

Investigation of factors associated with paternal nondisjunction of chromosome 21. Am J Med Genet A (2009) 0.89

Predictors and risk model development for menopausal age in fragile X premutation carriers. Genet Med (2011) 0.88

Reproductive health of adolescent girls who carry the FMR1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiency. Ann N Y Acad Sci (2008) 0.88

Parenting aggravation and autism spectrum disorders: 2007 National Survey of Children's Health. Disabil Health J (2010) 0.88

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project. Birth Defects Res A Clin Mol Teratol (2011) 0.87

Modeling the potential public health impact of prepregnancy obesity on adverse fetal and infant outcomes. Obesity (Silver Spring) (2013) 0.87

Association between parental nativity and autism spectrum disorder among US-born non-Hispanic white and Hispanic children, 2007 National Survey of Children's Health. Disabil Health J (2011) 0.87

A trisomic transmission disequilibrium test. Genet Epidemiol (2004) 0.86

Vascular risk and low serum B12 predict white matter lesions in patients with major depression. J Affect Disord (2005) 0.86

A population-based study of the recurrence of developmental disabilities--Metropolitan Atlanta Developmental Disabilities Surveillance Program, 1991-94. Paediatr Perinat Epidemiol (2005) 0.86