Published in Nat Genet on July 10, 2011
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
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The dynamics of DNA methylation in schizophrenia and related psychiatric disorders. Neuropsychopharmacology (2012) 1.40
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Exome sequencing to identify de novo mutations in sporadic ALS trios. Nat Neurosci (2013) 1.31
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Deleterious GRM1 mutations in schizophrenia. PLoS One (2012) 1.16
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Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. PLoS Genet (2013) 1.03
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Genetic relationships between schizophrenia, bipolar disorder, and schizoaffective disorder. Schizophr Bull (2014) 1.01
Identification and functional characterization of rare SHANK2 variants in schizophrenia. Mol Psychiatry (2015) 1.01
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Genetic, environmental, and epigenetic factors involved in CAKUT. Nat Rev Nephrol (2015) 1.00
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Gene expression elucidates functional impact of polygenic risk for schizophrenia. Nat Neurosci (2016) 1.00
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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. Nat Neurosci (2016) 0.97
Whole-genome sequencing in an autism multiplex family. Mol Autism (2013) 0.97
Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene. Neuron (2014) 0.96
Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies. Lancet Neurol (2012) 0.95
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The impact of improved microarray coverage and larger sample sizes on future genome-wide association studies. Genet Epidemiol (2013) 0.94
Following the genes: a framework for animal modeling of psychiatric disorders. BMC Biol (2011) 0.94
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. Am J Hum Genet (2017) 0.91
Assessing the utility of intermediate phenotypes for genetic mapping of psychiatric disease. Trends Neurosci (2014) 0.90
Deep resequencing of 17 glutamate system genes identifies rare variants in DISC1 and GRIN2B affecting risk of opioid dependence. Addict Biol (2013) 0.90
Multiple variants aggregate in the neuregulin signaling pathway in a subset of schizophrenia patients. Transl Psychiatry (2013) 0.90
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity. PLoS Genet (2015) 0.90
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Synaptic plasticity, neural circuits, and the emerging role of altered short-term information processing in schizophrenia. Front Synaptic Neurosci (2014) 0.87
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis. PLoS Genet (2014) 0.87
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia. Neuron (2016) 0.87
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A gradient-boosting approach for filtering de novo mutations in parent-offspring trios. Bioinformatics (2014) 0.83
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Toward a Deeper Understanding of the Genetics of Bipolar Disorder. Front Psychiatry (2015) 0.83
De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case. Neurobiol Aging (2013) 0.83
Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations. Mol Psychiatry (2016) 0.82
Genomics of behavioral diseases. Front Genet (2012) 0.82
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An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis. Hum Mol Genet (2014) 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
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Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Transl Psychiatry (2016) 0.80
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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am J Hum Genet (2015) 0.79
Toward developmental models of psychiatric disorders in zebrafish. Front Neural Circuits (2013) 0.79
Activity-Dependent Changes in Gene Expression in Schizophrenia Human-Induced Pluripotent Stem Cell Neurons. JAMA Psychiatry (2016) 0.78
Mitochondrial mutations in subjects with psychiatric disorders. PLoS One (2015) 0.78
De novo variants in sporadic cases of childhood onset schizophrenia. Eur J Hum Genet (2015) 0.78
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A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. Hum Mol Genet (2015) 0.78
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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 draft genome of the transgenic tropical fruit tree papaya (Carica papaya Linnaeus). Nature (2008) 5.54
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet (2007) 4.54
Synthetic genetic array analysis in Saccharomyces cerevisiae. Methods Mol Biol (2006) 4.45
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
Subthalamic nucleus stimulation in severe obsessive-compulsive disorder. N Engl J Med (2008) 3.52
Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet (2009) 3.33
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
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Complete sequencing of pNDM-HK encoding NDM-1 carbapenemase from a multidrug-resistant Escherichia coli strain isolated in Hong Kong. PLoS One (2011) 2.98
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet (2006) 2.92
Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol (2007) 2.89
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Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet (2002) 2.72
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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
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
Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet (2009) 2.31
Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet (2012) 2.30
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet (2006) 2.17
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A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nat Med (2010) 2.00
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Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat Genet (2003) 2.00
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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet (2011) 1.94
Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol (2003) 1.93
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet (2006) 1.92
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De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet (2010) 1.79
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat Genet (2008) 1.78
Global brain gene expression analysis links glutamatergic and GABAergic alterations to suicide and major depression. PLoS One (2009) 1.78
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med (2010) 1.75
TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1. Hum Mol Genet (2011) 1.75
Functional magnetic resonance imaging correlates of memory encoding in relation to achieving remission in first-episode schizophrenia. Br J Psychiatry (2012) 1.70
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet (2004) 1.70
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet (2013) 1.68
Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? J Neurol Neurosurg Psychiatry (2010) 1.68
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A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am J Hum Genet (2001) 1.65
Common variants in P2RY11 are associated with narcolepsy. Nat Genet (2010) 1.65
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