Published in J Neurosci on June 23, 2004
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ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. BMJ Case Rep (2009) 0.83
Collybistin and gephyrin are novel components of the eukaryotic translation initiation factor 3 complex. BMC Res Notes (2010) 0.82
Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism. Eur J Hum Genet (2015) 0.81
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. Small GTPases (2010) 0.81
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Molecular architecture of glycinergic synapses. Histochem Cell Biol (2008) 0.77
Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes. Mol Syndromol (2012) 0.76
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Cyclin-dependent kinase 5 is involved in the phosphorylation of gephyrin and clustering of GABAA receptors at inhibitory synapses of hippocampal neurons. PLoS One (2014) 0.76
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Receptor tyrosine kinase EphA7 is required for interneuron connectivity at specific subcellular compartments of granule cells. Sci Rep (2016) 0.75
The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons. Sci Rep (2016) 0.75
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Generation of pure GABAergic neurons by transcription factor programming. Nat Methods (2017) 0.75
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet (2008) 10.52
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Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet (2003) 6.63
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder. Am J Hum Genet (2009) 5.98
Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis (2006) 5.96
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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet (2007) 5.28
Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Arch Neurol (2007) 5.09
The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. Nat Cell Biol (2007) 4.60
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet (2009) 4.52
The beginning of the end for the Kraepelinian dichotomy. Br J Psychiatry (2005) 4.51
The Kraepelinian dichotomy - going, going... but still not gone. Br J Psychiatry (2010) 4.47
Endogenous neurosteroids regulate GABAA receptors through two discrete transmembrane sites. Nature (2006) 4.33
Genes for schizophrenia and bipolar disorder? Implications for psychiatric nosology. Schizophr Bull (2005) 3.93
Methylation of histone H3R2 by PRMT6 and H3K4 by an MLL complex are mutually exclusive. Nature (2007) 3.68
Genes for schizophrenia? Recent findings and their pathophysiological implications. Lancet (2003) 3.61
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet (2012) 3.50
HEK293 cell line: a vehicle for the expression of recombinant proteins. J Pharmacol Toxicol Methods (2005) 3.41
GlyR alpha3: an essential target for spinal PGE2-mediated inflammatory pain sensitization. Science (2004) 3.38
Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women. PLoS Genet (2008) 3.33
Toward a unified nomenclature for mammalian ADP-ribosyltransferases. Trends Biochem Sci (2010) 3.32
Cis-acting variation in the expression of a high proportion of genes in human brain. Hum Genet (2003) 3.07
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell (2007) 3.06
Analysis of copy number variations at 15 schizophrenia-associated loci. Br J Psychiatry (2013) 3.01
Potent and selective inhibition of human cytomegalovirus replication by 1263W94, a benzimidazole L-riboside with a unique mode of action. Antimicrob Agents Chemother (2002) 2.98
Phenotypic and genetic complexity of psychosis. Invited commentary on ... Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 2.97
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Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71
Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet (2008) 2.68
Delta-like 1 is necessary for the generation of marginal zone B cells but not T cells in vivo. Nat Immunol (2004) 2.63
Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorder. Arch Gen Psychiatry (2005) 2.58
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Retrograde activation of presynaptic NMDA receptors enhances GABA release at cerebellar interneuron-Purkinje cell synapses. Nat Neurosci (2004) 2.44
Neuroligin 2 drives postsynaptic assembly at perisomatic inhibitory synapses through gephyrin and collybistin. Neuron (2009) 2.44
Phospho-dependent functional modulation of GABA(B) receptors by the metabolic sensor AMP-dependent protein kinase. Neuron (2007) 2.38
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PINK1 cleavage at position A103 by the mitochondrial protease PARL. Hum Mol Genet (2010) 2.30
Substrate-assisted catalysis by PARP10 limits its activity to mono-ADP-ribosylation. Mol Cell (2008) 2.29
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Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
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Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD. Am J Psychiatry (2012) 2.20
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The gamma 2 subunit of GABA(A) receptors is required for maintenance of receptors at mature synapses. Mol Cell Neurosci (2003) 2.18
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Nanoscale live-cell imaging using hopping probe ion conductance microscopy. Nat Methods (2009) 2.12
A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. Am J Hum Genet (2003) 2.11
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Huntingtin-associated protein 1 regulates inhibitory synaptic transmission by modulating gamma-aminobutyric acid type A receptor membrane trafficking. Proc Natl Acad Sci U S A (2004) 2.10
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The gamma2 subunit of GABA(A) receptors is a substrate for palmitoylation by GODZ. J Neurosci (2004) 2.07
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A (2006) 2.03
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Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. Hum Mol Genet (2010) 1.72
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