Published in Exp Neurol on September 27, 2006
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem (2008) 1.59
Pharmacogenetic inhibition of eIF4E-dependent Mmp9 mRNA translation reverses fragile X syndrome-like phenotypes. Cell Rep (2014) 1.55
Fragile X syndrome and targeted treatment trials. Results Probl Cell Differ (2012) 1.27
Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486. Proc Natl Acad Sci U S A (2013) 1.04
Glutamate receptor dysfunction and drug targets across models of autism spectrum disorders. Pharmacol Biochem Behav (2011) 1.01
Emerging pharmacotherapies for neurodevelopmental disorders. J Dev Behav Pediatr (2010) 0.99
Dysregulation of group-I metabotropic glutamate (mGlu) receptor mediated signalling in disorders associated with Intellectual Disability and Autism. Neurosci Biobehav Rev (2014) 0.94
Fragile X mental retardation protein replacement restores hippocampal synaptic function in a mouse model of fragile X syndrome. Gene Ther (2009) 0.86
Resilience to audiogenic seizures is associated with p-ERK1/2 dephosphorylation in the subiculum of Fmr1 knockout mice. Front Cell Neurosci (2013) 0.81
Matrix metalloproteinase-9 deletion rescues auditory evoked potential habituation deficit in a mouse model of Fragile X Syndrome. Neurobiol Dis (2016) 0.81
The role of GABAergic system in neurodevelopmental disorders: a focus on autism and epilepsy. Int J Physiol Pathophysiol Pharmacol (2011) 0.78
Pathological plasticity in fragile X syndrome. Neural Plast (2012) 0.78
Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder? Int J Mol Sci (2017) 0.75
Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells. Stem Cells (2016) 0.75
mGlu5 positive allosteric modulation normalizes synaptic plasticity defects and motor phenotypes in a mouse model of Rett syndrome. Hum Mol Genet (2016) 0.75
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (2002) 9.90
The DNA sequence of the human X chromosome. Nature (2005) 6.97
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet (2003) 6.82
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
Genomewide association studies of stroke. N Engl J Med (2009) 5.29
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A (2002) 5.18
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet (2013) 3.87
Atomoxetine increases extracellular levels of norepinephrine and dopamine in prefrontal cortex of rat: a potential mechanism for efficacy in attention deficit/hyperactivity disorder. Neuropsychopharmacology (2002) 3.79
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci U S A (2006) 3.55
Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes (2008) 3.54
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron (2007) 3.30
A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet (2008) 3.25
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet (2009) 3.18
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet (2005) 3.09
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. Ann Intern Med (2009) 2.80
Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight. Lancet (2002) 2.78
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet (2011) 2.73
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet (2003) 2.73
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet (2008) 2.66
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis (2008) 2.52
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet (2008) 2.45
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet (2013) 2.36
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A (2013) 2.30
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics (2003) 2.29
Cyclic alternating pattern in sleep and its relationship to creativity. Sleep Med (2011) 2.21
Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA (2006) 2.15
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
Regular CPAP utilization reduces nasal inflammation assessed by nasal cytology in obstructive sleep apnea syndrome. Sleep Med (2012) 2.10
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics (2006) 2.10
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
Genomic and expression profiling identifies the B-cell associated tyrosine kinase Syk as a possible therapeutic target in mantle cell lymphoma. Br J Haematol (2006) 2.09
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am J Psychiatry (2006) 2.05
Long-term cognitive and behavioral therapies, combined with augmentative communication, are related to uncinate fasciculus integrity in autism. J Autism Dev Disord (2012) 2.03
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum Mol Genet (2009) 2.03
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet (2002) 2.02
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. Proc Natl Acad Sci U S A (2011) 2.01
Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat Genet (2003) 2.00
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet (2010) 1.94
Continuous subcutaneous glucose monitoring in diabetic patients: a multicenter analysis. Diabetes Care (2002) 1.92
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet (2012) 1.90
A genome-wide association study of optic disc parameters. PLoS Genet (2010) 1.87
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet (2007) 1.87
Heritability of blood pressure traits and the genetic contribution to blood pressure variance explained by four blood-pressure-related genes. J Hypertens (2007) 1.85
LPIN2 is associated with type 2 diabetes, glucose metabolism, and body composition. Diabetes (2007) 1.83
Microencapsulated pancreatic islet allografts into nonimmunosuppressed patients with type 1 diabetes: first two cases. Diabetes Care (2006) 1.80
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. PLoS Genet (2012) 1.79
Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nat Genet (2012) 1.79
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. Atherosclerosis (2009) 1.78
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS Genet (2009) 1.77
Shared constitutional risks for maternal vascular-related pregnancy complications and future cardiovascular disease. Hypertension (2008) 1.77
Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. Am J Med Genet (2002) 1.76
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron (2002) 1.76
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
Meta-analysis of telomere length in 19,713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect. Eur J Hum Genet (2013) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet (2012) 1.71
Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome. Proc Natl Acad Sci U S A (2005) 1.70
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
Predicting human height by Victorian and genomic methods. Eur J Hum Genet (2009) 1.69
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet (2013) 1.68
PARK6-linked parkinsonism occurs in several European families. Ann Neurol (2002) 1.68
Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet (2012) 1.68
Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet (2010) 1.67
Multiple loci are associated with white blood cell phenotypes. PLoS Genet (2011) 1.65
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet (2012) 1.62
NREM sleep instability is reduced in children with attention-deficit/hyperactivity disorder. Sleep (2006) 1.62
C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy. Eur J Hum Genet (2002) 1.62
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol (2011) 1.61
Microsatellite repeat instability and neurological disease. Bioessays (2009) 1.60
Successful determination of lower inflection point and maximal compliance in a population of patients with acute respiratory distress syndrome. Crit Care Med (2002) 1.60
Activation of 5-HT7 serotonin receptors reverses metabotropic glutamate receptor-mediated synaptic plasticity in wild-type and Fmr1 knockout mice, a model of Fragile X syndrome. Biol Psychiatry (2012) 1.59
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem (2008) 1.59
Assessment of gene-by-sex interaction effect on bone mineral density. J Bone Miner Res (2012) 1.58
Common genetic variants associated with open-angle glaucoma. Hum Mol Genet (2011) 1.58
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet (2006) 1.56