Published in Hum Mutat on December 12, 2012
A polygenic burden of rare disruptive mutations in schizophrenia. Nature (2014) 5.99
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet (2014) 2.84
A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci (2013) 2.24
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. Am J Hum Genet (2014) 1.86
Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun (2014) 1.59
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med (2014) 1.55
Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat (2014) 1.25
Tau exacerbates excitotoxic brain damage in an animal model of stroke. Nat Commun (2017) 1.07
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet (2013) 1.04
Rapid dispersion of SynGAP from synaptic spines triggers AMPA receptor insertion and spine enlargement during LTP. Neuron (2015) 0.98
Advancing epilepsy genetics in the genomic era. Genome Med (2015) 0.97
A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism. Transl Psychiatry (2014) 0.96
SYNGAP1 links the maturation rate of excitatory synapses to the duration of critical-period synaptic plasticity. J Neurosci (2013) 0.90
Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons. Neuron (2014) 0.87
Mechanistic basis of MAGUK-organized complexes in synaptic development and signalling. Nat Rev Neurosci (2016) 0.87
SYNGAP1: Mind the Gap. Front Cell Neurosci (2016) 0.84
Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins. Front Pediatr (2014) 0.83
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. Am J Med Genet A (2015) 0.83
Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice. J Neurosci (2015) 0.81
Wnt-related SynGAP1 is a neuroprotective factor of glutamatergic synapses against Aβ oligomers. Front Cell Neurosci (2015) 0.77
Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly. Biol Psychiatry (2014) 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
Actin-Dependent Alterations of Dendritic Spine Morphology in Shankopathies. Neural Plast (2016) 0.77
Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. Mol Autism (2016) 0.77
A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. Front Cell Neurosci (2016) 0.76
Prioritizing the development of mouse models for childhood brain disorders. Neuropharmacology (2015) 0.76
Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet (2017) 0.75
Empirical Bayes scan statistics for detecting clusters of disease risk variants in genetic studies. Biometrics (2015) 0.75
Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function. Nat Commun (2016) 0.75
Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders. Sci Rep (2016) 0.75
mirDNMR: a gene-centered database of background de novo mutation rates in human. Nucleic Acids Res (2016) 0.75
A model for regulation by SynGAP-α1 of binding of synaptic proteins to PDZ-domain 'Slots' in the postsynaptic density. Elife (2016) 0.75
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report. BMC Med Genet (2017) 0.75
Network Diffusion-Based Prioritization of Autism Risk Genes Identifies Significantly Connected Gene Modules. Front Genet (2017) 0.75
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature (2012) 10.99
A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol (2007) 9.90
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
Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature (2010) 7.51
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell (2012) 6.71
Genome-wide analysis of transcript isoform variation in humans. Nat Genet (2008) 6.70
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
Structural basis for the autoinhibition of c-Abl tyrosine kinase. Cell (2003) 5.44
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet (2009) 4.72
Experience and activity-dependent maturation of perisomatic GABAergic innervation in primary visual cortex during a postnatal critical period. J Neurosci (2004) 4.71
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42
JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells. Nature (2010) 4.35
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med (2006) 4.04
Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet (2011) 4.01
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol (2012) 4.00
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med (2009) 3.88
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet (2010) 3.69
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
eIF2alpha phosphorylation bidirectionally regulates the switch from short- to long-term synaptic plasticity and memory. Cell (2007) 3.46
Splicing regulates NAD metabolite binding to histone macroH2A. Nat Struct Mol Biol (2005) 3.40
Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet (2009) 3.33
A macrodomain-containing histone rearranges chromatin upon sensing PARP1 activation. Nat Struct Mol Biol (2009) 3.26
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci U S A (2010) 3.13
Autism-related deficits via dysregulated eIF4E-dependent translational control. Nature (2012) 3.13
MicroRNA expression in the adult mouse central nervous system. RNA (2008) 3.12
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Astrocytes are endogenous regulators of basal transmission at central synapses. Cell (2011) 2.97
Clonal selection drives genetic divergence of metastatic medulloblastoma. Nature (2012) 2.96
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int (2003) 2.94
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet (2006) 2.92
Short-term sprint interval versus traditional endurance training: similar initial adaptations in human skeletal muscle and exercise performance. J Physiol (2006) 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
Low-volume high-intensity interval training reduces hyperglycemia and increases muscle mitochondrial capacity in patients with type 2 diabetes. J Appl Physiol (1985) (2011) 2.84
Standardized computer-based organized reporting of EEG: SCORE. Epilepsia (2013) 2.84
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
Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification. Nat Protoc (2007) 2.80
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation. Mol Cell (2010) 2.77
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis? Ann Neurol (2007) 2.76
Using molecular classification to predict gains in maximal aerobic capacity following endurance exercise training in humans. J Appl Physiol (1985) (2010) 2.74
Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. Cancer Cell (2009) 2.73
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet (2002) 2.72
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Translational control of hippocampal synaptic plasticity and memory by the eIF2alpha kinase GCN2. Nature (2005) 2.67
Comment on "Widespread RNA and DNA sequence differences in the human transcriptome". Science (2012) 2.66
What can exome sequencing do for you? J Med Genet (2011) 2.63
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
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet (2007) 2.54
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab (2007) 2.51
Novel de novo SHANK3 mutation in autistic patients. Am J Med Genet B Neuropsychiatr Genet (2009) 2.43
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet (2013) 2.42
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Hum Mol Genet (2009) 2.40
Ingested protein dose response of muscle and albumin protein synthesis after resistance exercise in young men. Am J Clin Nutr (2008) 2.39
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet (2013) 2.32
Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet (2009) 2.31
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology (2014) 2.30
Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet (2012) 2.30
A practical model of low-volume high-intensity interval training induces mitochondrial biogenesis in human skeletal muscle: potential mechanisms. J Physiol (2010) 2.28
High responders to resistance exercise training demonstrate differential regulation of skeletal muscle microRNA expression. J Appl Physiol (1985) (2010) 2.25
GAD67-mediated GABA synthesis and signaling regulate inhibitory synaptic innervation in the visual cortex. Neuron (2007) 2.23
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet (2007) 2.22
Differential effects of resistance and endurance exercise in the fed state on signalling molecule phosphorylation and protein synthesis in human muscle. J Physiol (2008) 2.20
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet (2011) 2.18
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations. Acta Neuropathol (2012) 2.17
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet (2006) 2.17
Consumption of fluid skim milk promotes greater muscle protein accretion after resistance exercise than does consumption of an isonitrogenous and isoenergetic soy-protein beverage. Am J Clin Nutr (2007) 2.17
Consumption of fat-free fluid milk after resistance exercise promotes greater lean mass accretion than does consumption of soy or carbohydrate in young, novice, male weightlifters. Am J Clin Nutr (2007) 2.15
Single-molecule denaturation mapping of DNA in nanofluidic channels. Proc Natl Acad Sci U S A (2010) 2.13