Published in Nature on January 22, 2014
Biological insights from 108 schizophrenia-associated genetic loci. Nature (2014) 16.13
Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med (2014) 6.89
De novo mutations in schizophrenia implicate synaptic networks. Nature (2014) 6.59
Schizophrenia risk from complex variation of complement component 4. Nature (2016) 3.84
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature (2014) 3.29
Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med (2016) 3.04
Spine pruning drives antipsychotic-sensitive locomotion via circuit control of striatal dopamine. Nat Neurosci (2015) 2.89
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet (2014) 2.53
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nat Neurosci (2015) 2.43
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nat Biotechnol (2016) 2.25
Synaptic dysregulation in a human iPS cell model of mental disorders. Nature (2014) 2.12
Schizophrenia. Lancet (2016) 1.83
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci (2016) 1.78
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biol Psychiatry (2014) 1.68
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. J Am Coll Cardiol (2016) 1.68
Large-scale genomics unveils the genetic architecture of psychiatric disorders. Nat Neurosci (2014) 1.64
Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1. Cell Stem Cell (2015) 1.63
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature (2017) 1.59
Structural basis of arc binding to synaptic proteins: implications for cognitive disease. Neuron (2015) 1.58
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nat Neurosci (2016) 1.58
Loss of Microtubule-Associated Protein 2 Immunoreactivity Linked to Dendritic Spine Loss in Schizophrenia. Biol Psychiatry (2015) 1.52
Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes. Nat Biotechnol (2015) 1.47
Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. Biol Psychiatry (2014) 1.46
The genetic architecture of type 2 diabetes. Nature (2016) 1.43
Annual Research Review: Discovery science strategies in studies of the pathophysiology of child and adolescent psychiatric disorders - promises and limitations. J Child Psychol Psychiatry (2016) 1.42
Recurrent and functional regulatory mutations in breast cancer. Nature (2017) 1.39
The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential. Pharmacol Rev (2015) 1.38
Methylomic profiling of human brain tissue supports a neurodevelopmental origin for schizophrenia. Genome Biol (2014) 1.37
The discovery of integrated gene networks for autism and related disorders. Genome Res (2014) 1.35
Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. Am J Hum Genet (2015) 1.33
Evaluating historical candidate genes for schizophrenia. Mol Psychiatry (2015) 1.26
A role for noncoding variation in schizophrenia. Cell Rep (2014) 1.26
Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nat Neurosci (2014) 1.21
The impact of population demography and selection on the genetic architecture of complex traits. PLoS Genet (2014) 1.19
Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. Genome Med (2014) 1.17
Psychiatric disorders: diagnosis to therapy. Cell (2014) 1.16
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. Nat Rev Genet (2015) 1.14
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Hum Mutat (2015) 1.12
The NMDA receptor 'glycine modulatory site' in schizophrenia: D-serine, glycine, and beyond. Curr Opin Pharmacol (2014) 1.11
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat Genet (2016) 1.10
Explaining additional genetic variation in complex traits. Trends Genet (2014) 1.08
Genetics and genomics of psychiatric disease. Science (2015) 1.08
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. PLoS Genet (2015) 1.08
Redox dysregulation, neuroinflammation, and NMDA receptor hypofunction: A "central hub" in schizophrenia pathophysiology? Schizophr Res (2014) 1.06
Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing. Genome Res (2015) 1.06
Developing and evaluating polygenic risk prediction models for stratified disease prevention. Nat Rev Genet (2016) 1.05
Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences. Hum Mol Genet (2014) 1.03
The Fourth Law of Behavior Genetics. Curr Dir Psychol Sci (2015) 1.03
Common polygenic variation enhances risk prediction for Alzheimer's disease. Brain (2015) 1.02
Genetic determinants of depression: recent findings and future directions. Harv Rev Psychiatry (2015) 1.02
Progress and promise in understanding the genetic basis of common diseases. Proc Biol Sci (2015) 1.02
Transcriptional targets of the schizophrenia risk gene MIR137. Transl Psychiatry (2014) 1.02
The molecular bases of the suicidal brain. Nat Rev Neurosci (2014) 1.02
Identification and functional characterization of rare SHANK2 variants in schizophrenia. Mol Psychiatry (2015) 1.01
Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia. Neuron (2015) 1.00
Missing heritability of common diseases and treatments outside the protein-coding exome. Hum Genet (2014) 1.00
Rare variants in neuronal excitability genes influence risk for bipolar disorder. Proc Natl Acad Sci U S A (2015) 1.00
Gene expression elucidates functional impact of polygenic risk for schizophrenia. Nat Neurosci (2016) 1.00
Psychiatric risk factor ANK3/ankyrin-G nanodomains regulate the structure and function of glutamatergic synapses. Neuron (2014) 1.00
A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder. Am J Hum Genet (2014) 0.99
PEMapper and PECaller provide a simplified approach to whole-genome sequencing. Proc Natl Acad Sci U S A (2017) 0.98
Modeling psychiatric disorders for developing effective treatments. Nat Med (2015) 0.98
Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia. Mol Psychiatry (2014) 0.98
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. Nat Neurosci (2016) 0.97
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders. JAMA Psychiatry (2016) 0.97
Genome-scale neurogenetics: methodology and meaning. Nat Neurosci (2014) 0.96
The Genetics of Stress-Related Disorders: PTSD, Depression, and Anxiety Disorders. Neuropsychopharmacology (2015) 0.96
Altered glutamate protein co-expression network topology linked to spine loss in the auditory cortex of schizophrenia. Biol Psychiatry (2014) 0.95
Co-barcoded sequence reads from long DNA fragments: a cost-effective solution for "perfect genome" sequencing. Front Genet (2015) 0.94
Integrated neurobiology of bipolar disorder. Front Psychiatry (2014) 0.93
De novo mutations from sporadic schizophrenia cases highlight important signaling genes in an independent sample. Schizophr Res (2015) 0.93
The glutamate hypothesis of schizophrenia: evidence from human brain tissue studies. Ann N Y Acad Sci (2014) 0.92
Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann Neurol (2015) 0.92
CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels. Biol Psychiatry (2014) 0.92
An Expanded View of Complex Traits: From Polygenic to Omnigenic. Cell (2017) 0.91
In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes. Psychophysiology (2014) 0.91
Integrating genetics and social science: genetic risk scores. Biodemography Soc Biol (2014) 0.89
Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders. Prog Neurobiol (2015) 0.89
CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome. Front Cell Neurosci (2014) 0.89
Recent genetic findings in schizophrenia and their therapeutic relevance. J Psychopharmacol (2014) 0.88
Schizophrenia genetics: emerging themes for a complex disorder. Mol Psychiatry (2014) 0.88
PSD95 nanoclusters are postsynaptic building blocks in hippocampus circuits. Sci Rep (2016) 0.88
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. Am J Hum Genet (2014) 0.88
NMDA receptors are selectively partitioned into complexes and supercomplexes during synapse maturation. Nat Commun (2016) 0.88
A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing. Front Genet (2015) 0.88
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med (2017) 0.87
Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neurons. Proc Natl Acad Sci U S A (2015) 0.87
Arc regulates experience-dependent persistent firing patterns in frontal cortex. J Neurosci (2014) 0.87
A meta-analysis of gene expression quantitative trait loci in brain. Transl Psychiatry (2014) 0.87
Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach. Lancet Psychiatry (2016) 0.87
High-resolution copy number variation analysis of schizophrenia in Japan. Mol Psychiatry (2016) 0.87
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet (2017) 0.87
Role of Immediate-Early Genes in Synaptic Plasticity and Neuronal Ensembles Underlying the Memory Trace. Front Mol Neurosci (2016) 0.86
Increased abundance of translation machinery in stem cell-derived neural progenitor cells from four schizophrenia patients. Transl Psychiatry (2015) 0.86
Rare variants in the neurotrophin signaling pathway implicated in schizophrenia risk. Schizophr Res (2015) 0.86
Novel directions for G × E analysis in psychiatry. Epidemiol Psychiatr Sci (2014) 0.86
An extended set of yeast-based functional assays accurately identifies human disease mutations. Genome Res (2016) 0.85
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7. Nat Genet (2017) 0.85
A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness. Nat Commun (2014) 0.85
Genetics and Epigenetics of Eating Disorders. Adv Genomics Genet (2015) 0.85
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature (2009) 33.26
Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet (2011) 18.88
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet (2013) 13.17
Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study. Lancet (2009) 12.96
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch Gen Psychiatry (2003) 10.44
De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
Calcium oscillations increase the efficiency and specificity of gene expression. Nature (1998) 9.19
Genome-wide association study identifies five new schizophrenia loci. Nat Genet (2011) 9.07
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell (2011) 8.46
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet (2011) 7.80
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
De novo mutations in schizophrenia implicate synaptic networks. Nature (2014) 6.59
Enhanced long-term potentiation and impaired learning in mice with mutant postsynaptic density-95 protein. Nature (1998) 6.29
Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat Rev Genet (2012) 5.99
Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Nat Genet (2012) 5.78
Recent explosive human population growth has resulted in an excess of rare genetic variants. Science (2012) 5.58
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry (2011) 4.91
CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81
Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry (2011) 4.29
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet (2011) 4.01
Characterization of the proteome, diseases and evolution of the human postsynaptic density. Nat Neurosci (2010) 3.67
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat Genet (2012) 3.49
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
Selective targeting of newly synthesized Arc mRNA to active synapses requires NMDA receptor activation. Neuron (2001) 2.67
SynGAP regulates ERK/MAPK signaling, synaptic plasticity, and learning in the complex with postsynaptic density 95 and NMDA receptor. J Neurosci (2002) 2.46
Arg3.1/Arc mRNA induction by Ca2+ and cAMP requires protein kinase A and mitogen-activated protein kinase/extracellular regulated kinase activation. J Neurosci (2001) 2.44
Targeted tandem affinity purification of PSD-95 recovers core postsynaptic complexes and schizophrenia susceptibility proteins. Mol Syst Biol (2009) 2.17
Quantitative proteomics of the Cav2 channel nano-environments in the mammalian brain. Proc Natl Acad Sci U S A (2010) 1.85
Plasticity of calcium channels in dendritic spines. Nat Neurosci (2003) 1.82
Synaptic scaffold evolution generated components of vertebrate cognitive complexity. Nat Neurosci (2012) 1.67
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia (2012) 1.55
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet (2013) 1.53
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat (2012) 1.50
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am J Hum Genet (2012) 1.47
Increased levels of kynurenine and kynurenic acid in the CSF of patients with schizophrenia. Schizophr Bull (2010) 1.45
Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. JAMA Psychiatry (2013) 1.21
Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry (2012) 1.00
Heads-up: new roles for the fragile X mental retardation protein in neural stem and progenitor cells. Genesis (2011) 0.96
A population-specific uncommon variant in GRIN3A associated with schizophrenia. Biol Psychiatry (2012) 0.96
De novo mutations in schizophrenia implicate synaptic networks. Nature (2014) 6.59