Published in Genomics on August 01, 2002
PDD symptoms in ADHD, an independent familial trait? J Abnorm Child Psychol (2009) 1.05
Validation of SCT Methylation as a Hallmark Biomarker for Lung Cancers. J Thorac Oncol (2015) 0.77
Bio-collections in autism research. Mol Autism (2017) 0.75
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet (2006) 3.80
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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
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
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis (2008) 2.52
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A (2013) 2.30
Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. Ann Neurol (2010) 2.29
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol (2006) 2.25
Pacific decadal oscillation hindcasts relevant to near-term climate prediction. Proc Natl Acad Sci U S A (2010) 1.91
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet (2007) 1.87
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res (2004) 1.78
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron (2002) 1.76
Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Hum Mol Genet (2008) 1.66
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
A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism. Eur J Med Genet (2012) 1.54
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
Elevated CSF IL-6 in a patient with respiratory syncytial virus encephalopathy. Brain Dev (2006) 1.48
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med (2011) 1.47
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood (2004) 1.46
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet (2006) 1.45
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? EMBO J (2007) 1.44
Sensitivity to seasonal changes in panic disorder patients. Psychiatry Clin Neurosci (2006) 1.42
Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells. Proc Natl Acad Sci U S A (2008) 1.40
Network analysis of plasma and tissue amino acids and the generation of an amino index for potential diagnostic use. Am J Clin Nutr (2006) 1.40
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet (2004) 1.39
Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations. PLoS Genet (2011) 1.38
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins. Hum Mol Genet (2006) 1.38
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. Genet Med (2009) 1.36
Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A (2007) 1.35
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med (2012) 1.33
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet (2005) 1.32
Fragile X-related proteins regulate mammalian circadian behavioral rhythms. Am J Hum Genet (2008) 1.32
A prospective pancreatographic study of the prevalence of pancreatic carcinoma in patients with diabetes mellitus. Cancer (2002) 1.27
Pharmacologic characterization of the cloned human trace amine-associated receptor1 (TAAR1) and evidence for species differences with the rat TAAR1. J Pharmacol Exp Ther (2006) 1.26
Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res (2002) 1.26
Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models. J Neurophysiol (2009) 1.24
Polyglutamine aggregates stimulate ER stress signals and caspase-12 activation. Hum Mol Genet (2002) 1.24
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet (2011) 1.24
Bmal1 and β-cell clock are required for adaptation to circadian disruption, and their loss of function leads to oxidative stress-induced β-cell failure in mice. Mol Cell Biol (2013) 1.22
Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene. Behav Neurosci (2008) 1.21
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features. J Invest Dermatol (2005) 1.21
Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet (2005) 1.19
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization. Am J Med Genet A (2012) 1.15
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet (2005) 1.11
Genome-wide association study of panic disorder in the Japanese population. J Hum Genet (2009) 1.09
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis (2011) 1.09
Mutations in the gene encoding CADM1 are associated with autism spectrum disorder. Biochem Biophys Res Commun (2008) 1.08
Effective suicide prevention measures for teenagers in Japan. Br J Psychiatry (2013) 1.08
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest (2003) 1.08
Agreement between Occupational Therapy Practice Framework classifications and occupational therapists' classifications. Am J Occup Ther (2007) 1.07
R-fluoxetine increases extracellular DA, NE, as well as 5-HT in rat prefrontal cortex and hypothalamus: an in vivo microdialysis and receptor binding study. Neuropsychopharmacology (2002) 1.05
Mutation analysis of methyl-CpG binding protein family genes in autistic patients. Brain Dev (2005) 1.05
Evaluating the quality of reporting occupational therapy randomized controlled trials by expanding the CONSORT criteria. Am J Occup Ther (2006) 1.03
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. Hum Mol Genet (2013) 1.03
Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci (2002) 1.02
Associations between psychotic-like experiences and mental health status and other psychopathologies among Japanese early teens. Schizophr Res (2008) 1.02
Outcome of endoscopic submucosal dissection for colorectal tumors in elderly people. Int J Colorectal Dis (2010) 1.02
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
Desmoplakin and talin2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle. Circ Res (2011) 1.00
Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat. Hum Mol Genet (2007) 0.99
AKAP350 interaction with cdc42 interacting protein 4 at the Golgi apparatus. Mol Biol Cell (2004) 0.99
Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients. Brain Dev (2005) 0.99
Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur J Hum Genet (2011) 0.98
Comparison of effects of dual transporter inhibitors on monoamine transporters and extracellular levels in rats. Neuropharmacology (2003) 0.98
Efficacy of magnifying endoscopy with flexible spectral imaging color enhancement in the diagnosis of colorectal tumors. J Gastroenterol (2011) 0.97
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A (2013) 0.97
Reelin and disabled-1 expression in developing and mature human cortical neurons. J Neuropathol Exp Neurol (2003) 0.97
FXR1P but not FMRP regulates the levels of mammalian brain-specific microRNA-9 and microRNA-124. J Neurosci (2011) 0.97
Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene. Behav Neurosci (2008) 0.97
Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropathol Exp Neurol (2008) 0.96
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood (2002) 0.96
Efficient hemostatic method for endoscopic submucosal dissection of colorectal tumors. World J Gastroenterol (2010) 0.96
The Drosophila FMRP and LARK RNA-binding proteins function together to regulate eye development and circadian behavior. J Neurosci (2008) 0.95
Efficacy of hyaluronic acid in endoscopic mucosal resection of colorectal tumors. J Gastroenterol Hepatol (2011) 0.94
Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics (2002) 0.94
Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family. Blood (2004) 0.94
Dichloroacetate treatment for mitochondrial cytopathy: long-term effects in MELAS. Brain Dev (2004) 0.94
Help-seeking behavior among Japanese school students who self-harm: results from a self-report survey of 18,104 adolescents. Neuropsychiatr Dis Treat (2012) 0.93
Intracellular distribution of a speech/language disorder associated FOXP2 mutant. Biochem Biophys Res Commun (2006) 0.93
Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration. Hum Mol Genet (2011) 0.92
Use of Fluorinated Functionality in Enzyme Inhibitor Development: Mechanistic and Analytical Advantages. J Fluor Chem (2008) 0.92
Expression analysis and mutation detection of DLX5 and DLX6 in autism. Brain Dev (2009) 0.92