Published in Proc Natl Acad Sci U S A on April 12, 2010
Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet (2010) 3.69
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet (2011) 2.86
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol Autism (2010) 2.47
Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol (2012) 2.42
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet (2011) 2.38
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biol Psychiatry (2011) 2.28
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet (2011) 1.94
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). Mol Syndromol (2011) 1.94
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature (2013) 1.93
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature (2013) 1.86
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. Mol Psychiatry (2011) 1.79
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet (2010) 1.79
Subsynaptic AMPA receptor distribution is acutely regulated by actin-driven reorganization of the postsynaptic density. J Neurosci (2012) 1.71
Modeling autism by SHANK gene mutations in mice. Neuron (2013) 1.64
Retracted Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism. Cell (2011) 1.62
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet (2012) 1.59
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. PLoS Genet (2014) 1.57
The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron (2010) 1.57
Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Genomics (2013) 1.51
Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet (2011) 1.46
Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation. EMBO J (2011) 1.44
Omega-3 fatty acid deficiency disrupts endocytosis, neuritogenesis, and mitochondrial protein pathways in the mouse hippocampus. Front Genet (2013) 1.43
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Transl Psychiatry (2011) 1.40
The dynamics of DNA methylation in schizophrenia and related psychiatric disorders. Neuropsychopharmacology (2012) 1.40
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet (2012) 1.36
Glutamatergic model psychoses: prediction error, learning, and inference. Neuropsychopharmacology (2010) 1.34
Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission. J Neurosci (2013) 1.24
Progress toward treatments for synaptic defects in autism. Nat Med (2013) 1.24
Use of zebrafish as a model to understand mechanisms of addiction and complex neurobehavioral phenotypes. Neurobiol Dis (2010) 1.20
Neurogenetics: advancing the "next-generation" of brain research. Neuron (2010) 1.16
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. Hum Mol Genet (2011) 1.15
Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci (2012) 1.13
Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice. Mol Autism (2014) 1.11
Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene. Mol Neurobiol (2011) 1.04
Identification and functional characterization of rare SHANK2 variants in schizophrenia. Mol Psychiatry (2015) 1.01
High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability. PLoS One (2012) 1.01
Mice with reduced NMDA receptor expression: more consistent with autism than schizophrenia? Genes Brain Behav (2012) 1.00
Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. Hum Mol Genet (2013) 0.99
Lateral organization of the postsynaptic density. Mol Cell Neurosci (2011) 0.98
Behavioral phenotypes of genetic mouse models of autism. Genes Brain Behav (2015) 0.96
De novo mutation in schizophrenia. Schizophr Bull (2012) 0.95
Deletion of glutamate delta-1 receptor in mouse leads to aberrant emotional and social behaviors. PLoS One (2012) 0.95
Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects. Neuron (2015) 0.94
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons. Science (2016) 0.93
A Bayesian framework for de novo mutation calling in parents-offspring trios. Bioinformatics (2014) 0.90
Therapeutic approaches for shankopathies. Dev Neurobiol (2013) 0.90
Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. J Child Neurol (2015) 0.90
Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold. Mol Neurodegener (2011) 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
New insights into the generation and role of de novo mutations in health and disease. Genome Biol (2016) 0.88
Distribution of disease-associated copy number variants across distinct disorders of cognitive development. J Am Acad Child Adolesc Psychiatry (2013) 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
Altered Striatal Synaptic Function and Abnormal Behaviour in Shank3 Exon4-9 Deletion Mouse Model of Autism. Autism Res (2015) 0.87
Another piece of the autism puzzle. Nat Genet (2010) 0.86
Rare variants in the neurotrophin signaling pathway implicated in schizophrenia risk. Schizophr Res (2015) 0.86
Translational Concepts of mGluR5 in Synaptic Diseases of the Brain. Front Pharmacol (2012) 0.86
Neurobiology of autism gene products: towards pathogenesis and drug targets. Psychopharmacology (Berl) (2014) 0.86
Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID. Mol Autism (2015) 0.86
Differentially methylated plasticity genes in the amygdala of young primates are linked to anxious temperament, an at risk phenotype for anxiety and depressive disorders. J Neurosci (2014) 0.85
A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis. Eur Arch Psychiatry Clin Neurosci (2011) 0.85
Comparison of children with autism spectrum disorder with and without schizophrenia spectrum traits: gender, season of birth, and mental health risk factors. J Autism Dev Disord (2012) 0.83
A strategy to identify de novo mutations in common disorders such as autism and schizophrenia. J Vis Exp (2011) 0.83
Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? Mol Autism (2013) 0.83
Inter-individual and inter-strain variations in zebrafish locomotor ontogeny. PLoS One (2013) 0.83
De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention. Genome Med (2012) 0.83
The PHF21B gene is associated with major depression and modulates the stress response. Mol Psychiatry (2016) 0.82
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. BMC Med Genet (2014) 0.82
The glutamatergic aspects of schizophrenia molecular pathophysiology: role of the postsynaptic density, and implications for treatment. Curr Neuropharmacol (2014) 0.82
Challenges in understanding psychiatric disorders and developing therapeutics: a role for zebrafish. Dis Model Mech (2015) 0.81
SHANK proteins: roles at the synapse and in autism spectrum disorder. Nat Rev Neurosci (2017) 0.81
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. Front Cell Neurosci (2015) 0.81
Advanced paternal age increases the risk of schizophrenia and obsessive-compulsive disorder in a Chinese Han population. Psychiatry Res (2012) 0.80
Alternative polyadenylation and differential expression of Shank mRNAs in the synaptic neuropil. Philos Trans R Soc Lond B Biol Sci (2013) 0.80
Linkage analysis in a Dutch population isolate shows no major gene for left-handedness or atypical language lateralization. J Neurosci (2015) 0.79
Toward developmental models of psychiatric disorders in zebrafish. Front Neural Circuits (2013) 0.79
Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism. PLoS One (2015) 0.79
Mutation burden of rare variants in schizophrenia candidate genes. PLoS One (2015) 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
Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function. Autism Res (2016) 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
SHANK Mutations May Disorder Brain Development. Mol Syndromol (2015) 0.75
Shank is a dose-dependent regulator of Cav1 calcium current and CREB target expression. Elife (2017) 0.75
Emerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders. Neural Plast (2017) 0.75
Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders. Biomol Ther (Seoul) (2016) 0.75
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder. BMC Psychiatry (2015) 0.75
Novel Therapeutic Approach for Autism Spectrum Disorder: Focus on SHANK3. Curr Neuropharmacol (2015) 0.75
Duplications in ADHD patients harbour neurobehavioural genes that are co-expressed with genes associated with hyperactivity in the mouse. Am J Med Genet B Neuropsychiatr Genet (2015) 0.75
SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras. Nat Cell Biol (2017) 0.75
Advancing multiscale structural mapping of the brain through fluorescence imaging and analysis across length scales. Interface Focus (2016) 0.75
The social life of neurons: synaptic communication deficits as a common denominator of autism, schizophrenia, and other cognitive disorders. Biol Psychiatry (2012) 0.75
Integrative Analysis of Brain Region-specific Shank3 Interactomes for Understanding the Heterogeneity of Neuronal Pathophysiology Related to SHANK3 Mutations. Front Mol Neurosci (2017) 0.75
The 1000 Genomes Project: deep genomic sequencing waiting for deep psychiatric phenotyping. J Psychiatry Neurosci (2011) 0.75
Developmental profiling of ASD-related shank3 transcripts and their differential regulation by valproic acid in zebrafish. Dev Genes Evol (2016) 0.75
The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia. Curr Behav Neurosci Rep (2016) 0.75
Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date. CNS Drugs (2015) 0.75
SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26
Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
Adaptive protein evolution at the Adh locus in Drosophila. Nature (1991) 31.65
Prediction of deleterious human alleles. Hum Mol Genet (2001) 21.00
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
SNAP predicts effect of mutations on protein function. Bioinformatics (2008) 15.39
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet (2008) 10.19
Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence. Mol Psychiatry (2005) 9.23
Regional differences in synaptogenesis in human cerebral cortex. J Comp Neurol (1997) 9.09
SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res (2007) 8.46
Autism screening questionnaire: diagnostic validity. Br J Psychiatry (1999) 6.61
High genomic deleterious mutation rates in hominids. Nature (1999) 6.23
Postnatal neurodevelopmental disorders: meeting at the synapse? Science (2003) 5.71
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet (2007) 5.28
Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet (2007) 5.04
A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder. Am J Psychiatry (2002) 4.09
Regulation of dendritic spine morphology and synaptic function by Shank and Homer. Neuron (2001) 3.91
Premorbid IQ in schizophrenia: a meta-analytic review. Am J Psychiatry (2008) 3.27
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet (2003) 3.25
Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons. J Neurosci (2005) 2.96
IQ and risk for schizophrenia: a population-based cohort study. Psychol Med (1997) 2.47
Novel de novo SHANK3 mutation in autistic patients. Am J Med Genet B Neuropsychiatr Genet (2009) 2.43
Genetic linkage and complex diseases, with special reference to psychiatric disorders. Genet Epidemiol (1990) 2.28
Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. J Neurosci (2008) 2.27
The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci (2009) 1.84
A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22). Am J Med Genet (1996) 1.55
Development of the locomotor network in zebrafish. Prog Neurobiol (2002) 1.47
Reproductive fitness in familial schizophrenia. Schizophr Res (1996) 1.40
Pre-morbid IQ in mental disorders: a Danish draft-board study of 7486 psychiatric patients. Psychol Med (2009) 1.19
Schizophrenia risk and paternal age: a potential role for de novo mutations in schizophrenia vulnerability genes. CNS Spectr (2002) 1.17
Family and twin strategies as a head start in defining prodromes and endophenotypes for hypothetical early-interventions in schizophrenia. Schizophr Res (2001) 1.12
Inference of expression-dependent negative selection based on polymorphism and divergence in the human genome. Mol Biol Evol (2007) 1.07
Multicenter linkage study of schizophrenia loci on chromosome 22q. Mol Psychiatry (2004) 0.98
Novel vector systems optimized for injecting in vitro-synthesized mRNA into zebrafish embryos. Mol Cells (2004) 0.97
Evidence for two schizophrenia susceptibility genes on chromosome 22q13. Psychiatr Genet (2007) 0.95
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q. Clin Genet (2007) 0.94
MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India. Biol Psychiatry (2005) 0.93
Chromosome 22 markers demonstrate transmission disequilibrium with schizophrenia. Psychiatr Genet (1995) 0.87
Search for common haplotypes on chromosome 22q in patients with schizophrenia or bipolar disorder from the Faroe Islands. Am J Med Genet (2002) 0.86
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Distribution and intensity of constraint in mammalian genomic sequence. Genome Res (2005) 18.85
Dynamic mapping of human cortical development during childhood through early adulthood. Proc Natl Acad Sci U S A (2004) 17.86
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet (2008) 9.51
Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
The Drosophila melanogaster Genetic Reference Panel. Nature (2012) 7.94
A coalescent-based method for detecting and estimating recombination from gene sequences. Genetics (2002) 7.41
Neurodevelopmental trajectories of the human cerebral cortex. J Neurosci (2008) 7.14
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
The genetics of quantitative traits: challenges and prospects. Nat Rev Genet (2009) 5.99
cIAP1 and cIAP2 facilitate cancer cell survival by functioning as E3 ligases that promote RIP1 ubiquitination. Mol Cell (2008) 5.89
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet (2003) 5.82
Systems genetics of complex traits in Drosophila melanogaster. Nat Genet (2009) 5.41
Developmental trajectories of brain volume abnormalities in children and adolescents with attention-deficit/hyperactivity disorder. JAMA (2002) 4.72
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet (2007) 4.54
Characterization of evolutionary rates and constraints in three Mammalian genomes. Genome Res (2004) 4.45
Mapping cortical change in Alzheimer's disease, brain development, and schizophrenia. Neuroimage (2004) 4.13
Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet (2011) 4.01
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med (2009) 3.88
Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. Nat Genet (2009) 3.83
Resveratrol rescues mutant polyglutamine cytotoxicity in nematode and mammalian neurons. Nat Genet (2005) 3.75
Structural MRI of pediatric brain development: what have we learned and where are we going? Neuron (2010) 3.74
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet (2010) 3.69
Mutations in VANGL1 associated with neural-tube defects. N Engl J Med (2007) 3.58
RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice. Neuron (2003) 3.58
Subthalamic nucleus stimulation in severe obsessive-compulsive disorder. N Engl J Med (2008) 3.52
Genome-wide variation and identification of vaccine targets in the Plasmodium falciparum genome. Nat Genet (2006) 3.45
Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet (2009) 3.33
Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2002) 3.25
Cortical morphology in children and adolescents with different apolipoprotein E gene polymorphisms: an observational study. Lancet Neurol (2007) 3.19
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
A comprehensive family-based replication study of schizophrenia genes. JAMA Psychiatry (2013) 2.93
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet (2006) 2.92
Cellular inhibitors of apoptosis cIAP1 and cIAP2 are required for innate immunity signaling by the pattern recognition receptors NOD1 and NOD2. Immunity (2009) 2.91
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet (2002) 2.90
Using whole-genome sequence data to predict quantitative trait phenotypes in Drosophila melanogaster. PLoS Genet (2012) 2.90
Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol (2007) 2.89
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet (2011) 2.86
Incidence, predictive factors, and prognostic value of new-onset atrial fibrillation following transcatheter aortic valve implantation. J Am Coll Cardiol (2011) 2.83
A critical role for beta cell M3 muscarinic acetylcholine receptors in regulating insulin release and blood glucose homeostasis in vivo. Cell Metab (2006) 2.82
Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis? Ann Neurol (2007) 2.76
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet (2002) 2.72
Recombination hotspots and population structure in Plasmodium falciparum. PLoS Biol (2005) 2.67
Epistasis dominates the genetic architecture of Drosophila quantitative traits. Proc Natl Acad Sci U S A (2012) 2.59
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet (2003) 2.58
Inference of functional regions in proteins by quantification of evolutionary constraints. Proc Natl Acad Sci U S A (2002) 2.54
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet (2004) 2.53
Plasmodium falciparum genome-wide scans for positive selection, recombination hot spots and resistance to antimalarial drugs. Nat Genet (2010) 2.48
Novel de novo SHANK3 mutation in autistic patients. Am J Med Genet B Neuropsychiatr Genet (2009) 2.43
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Hum Mol Genet (2009) 2.40
Neurotrophin signaling through the p75 neurotrophin receptor. Prog Neurobiol (2002) 2.39
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet (2009) 2.37