Published in PLoS Genet on February 09, 2012
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature (2012) 2.99
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet (2013) 2.47
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature (2012) 2.36
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CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation. Neuron (2013) 1.21
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Acetylcholine elevation relieves cognitive rigidity and social deficiency in a mouse model of autism. Neuropsychopharmacology (2013) 1.00
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Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. Hum Mol Genet (2013) 0.99
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A candidate gene association study further corroborates involvement of contactin genes in autism. Mol Syndromol (2014) 0.92
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Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation. Nat Commun (2015) 0.90
Therapeutic approaches for shankopathies. Dev Neurobiol (2013) 0.90
Massive screening of copy number population-scale variation in Bos taurus genome. BMC Genomics (2013) 0.90
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CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome. Front Cell Neurosci (2014) 0.89
Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD. Front Cell Neurosci (2014) 0.89
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals. Eur J Hum Genet (2012) 0.88
TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits. PLoS One (2015) 0.88
Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit. Front Cell Neurosci (2015) 0.88
Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autism. Mol Brain (2016) 0.88
Sex differences in DNA methylation assessed by 450 K BeadChip in newborns. BMC Genomics (2015) 0.87
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. Hum Mol Genet (2013) 0.87
Reading and language disorders: the importance of both quantity and quality. Genes (Basel) (2014) 0.86
Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. PLoS One (2013) 0.86
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Sequencing ASMT identifies rare mutations in Chinese Han patients with autism. PLoS One (2013) 0.86
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Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders. Hum Genet (2014) 0.85
Identification of candidate intergenic risk loci in autism spectrum disorder. BMC Genomics (2013) 0.85
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. J Neurodev Disord (2013) 0.85
The role of SHANK2 rare variants in schizophrenia susceptibility. Mol Psychiatry (2015) 0.85
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome. Eur J Hum Genet (2014) 0.84
The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment. Neurotherapeutics (2015) 0.84
Hypersensitive pupillary light reflex in infants at risk for autism. Mol Autism (2015) 0.84
Altered nocifensive behavior in animal models of autism spectrum disorder: The role of the nicotinic cholinergic system. Neuropharmacology (2016) 0.83
Chromatin regulators, phenotypic robustness, and autism risk. Front Genet (2014) 0.83
Molecular handoffs in nitrergic neurotransmission. Front Med (Lausanne) (2014) 0.83
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. PLoS One (2014) 0.83
A molecular genetic study of autism and related phenotypes in extended pedigrees. J Neurodev Disord (2013) 0.82
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SHANK proteins: roles at the synapse and in autism spectrum disorder. Nat Rev Neurosci (2017) 0.81
Synapse assembly and neurodevelopmental disorders. Neuropsychopharmacology (2014) 0.81
Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function. PLoS One (2014) 0.80
Using genetic findings in autism for the development of new pharmaceutical compounds. Psychopharmacology (Berl) (2013) 0.80
Genetic testing and genetic counseling among Medicaid-enrolled children with autism spectrum disorder in 2001 and 2007. Hum Genet (2013) 0.80
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci (2017) 0.80
Modulation of aggressive behavior in mice by nicotinic receptor subtypes. Biochem Pharmacol (2015) 0.79
Recording Mouse Ultrasonic Vocalizations to Evaluate Social Communication. J Vis Exp (2016) 0.79
Dysfunctional cerebellar Purkinje cells contribute to autism-like behaviour in Shank2-deficient mice. Nat Commun (2016) 0.79
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders. Amino Acids (2015) 0.78
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. PLoS One (2014) 0.78
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Prioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database. PLoS One (2013) 0.78
The role of F-actin in modulating Clathrin-mediated endocytosis: Lessons from neurons in health and neuropsychiatric disorder. Commun Integr Biol (2014) 0.78
The use of stem cells to study autism spectrum disorder. Yale J Biol Med (2015) 0.78
The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder. Front Genet (2016) 0.78
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. Mol Autism (2014) 0.77
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Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes. Cell Rep (2016) 0.77
Reduction of Aggressive Episodes After Repeated Transdermal Nicotine Administration in a Hospitalized Adolescent with Autism Spectrum Disorder. J Autism Dev Disord (2015) 0.77
Impairment of translation in neurons as a putative causative factor for autism. Biol Direct (2014) 0.77
Mass spectrometry as a tool for studying autism spectrum disorder. J Mol Psychiatry (2013) 0.77
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. Hum Mol Genet (2015) 0.77
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness. Mol Psychiatry (2016) 0.76
Differential sensory fMRI signatures in autism and schizophrenia: Analysis of amplitude and trial-to-trial variability. Schizophr Res (2016) 0.76
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability. Eur J Hum Genet (2015) 0.76
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Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
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Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
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Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
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Neuroligins and neurexins link synaptic function to cognitive disease. Nature (2008) 9.23
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Correction of fragile X syndrome in mice. Neuron (2007) 6.51
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
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Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet (2009) 4.52
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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 3.87
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet (2010) 3.73
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