Published in Nat Genet on May 11, 2015
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Advancing the understanding of autism disease mechanisms through genetics. Nat Med (2016) 1.45
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nat Genet (2016) 1.42
Functional significance of rare neuroligin 1 variants found in autism. PLoS Genet (2017) 1.38
Genetics and genomics of psychiatric disease. Science (2015) 1.08
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. Am J Hum Genet (2015) 1.03
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Behavioral phenotypes of genetic mouse models of autism. Genes Brain Behav (2015) 0.96
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. Elife (2016) 0.92
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet (2017) 0.87
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet (2017) 0.84
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet (2016) 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
CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment. Mol Autism (2015) 0.81
A Statistical Approach for Testing Cross-Phenotype Effects of Rare Variants. Am J Hum Genet (2016) 0.80
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. Am J Hum Genet (2015) 0.80
Genetic Approaches to Understanding Psychiatric Disease. Neurotherapeutics (2017) 0.80
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The Contribution of Mosaic Variants to Autism Spectrum Disorder. PLoS Genet (2016) 0.78
De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun (2016) 0.78
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De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet (2016) 0.78
Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders. Front Genet (2015) 0.78
Genetic research in autism spectrum disorders. Curr Opin Pediatr (2015) 0.78
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Am J Hum Genet (2016) 0.78
Perturbed proteostasis in autism spectrum disorders. J Neurochem (2016) 0.78
ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties. Mol Psychiatry (2017) 0.78
Can data repositories help find effective treatments for complex diseases? Submitted to Progress in neurobiology. Prog Neurobiol (2016) 0.77
Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy. J Neurosci (2016) 0.77
Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders. PLoS One (2016) 0.77
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder. PLoS Genet (2016) 0.77
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. Cold Spring Harb Mol Case Stud (2015) 0.76
A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. Front Cell Neurosci (2016) 0.76
Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder. Mol Psychiatry (2017) 0.76
A systematic variant annotation approach for ranking genes associated with autism spectrum disorders. Mol Autism (2016) 0.76
Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder. PLoS Genet (2017) 0.75
Resequencing at scale in neurodevelopmental disorders. Nat Genet (2017) 0.75
Mutations in HECW2 are associated with intellectual disability and epilepsy. J Med Genet (2016) 0.75
Shared genetic influences between dimensional ASD and ADHD symptoms during child and adolescent development. Mol Autism (2017) 0.75
VARPRISM: incorporating variant prioritization in tests of de novo mutation association. Genome Med (2016) 0.75
Prevalence of four Mendelian disorders associated with autism in 2392 affected families. J Hum Genet (2017) 0.75
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. Sci Rep (2017) 0.75
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nat Genet (2017) 0.75
Wnt signaling networks in autism spectrum disorder and intellectual disability. J Neurodev Disord (2016) 0.75
Categorical versus dimensional approaches to autism-associated intermediate phenotypes in 22q11.2 microdeletion syndrome. Biol Psychiatry Cogn Neurosci Neuroimaging (2017) 0.75
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder. PLoS One (2017) 0.75
Are Somatic Mutations in Cortical Development the One Bad Apple That Spoils the Bunch? Epilepsy Curr (2015) 0.75
The role of sex-differential biology in risk for autism spectrum disorder. Biol Sex Differ (2016) 0.75
Genetic modulation of oxytocin's effects in social functioning. Ann Transl Med (2015) 0.75
RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development. PLoS One (2017) 0.75
Arbaclofen in Children and Adolescents with Autism Spectrum Disorder: A Randomized, Controlled, Phase 2 Trial. Neuropsychopharmacology (2016) 0.75
Increased burden of deleterious variants in essential genes in autism spectrum disorder. Proc Natl Acad Sci U S A (2016) 0.75
Bio-collections in autism research. Mol Autism (2017) 0.75
Truncating mutations in RBM12 are associated with psychosis. Nat Genet (2017) 0.75
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Sci Rep (2017) 0.75
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci (2017) 0.75
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry (2017) 0.75
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. Eur J Hum Genet (2017) 0.75
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Mol Psychiatry (2017) 0.75
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet (2017) 0.75
Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders. Mol Psychiatry (2017) 0.75
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. Genome Med (2017) 0.75
Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders. Transl Psychiatry (2017) 0.75
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics (2010) 52.01
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) (2012) 20.08
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet (2014) 14.56
A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics (2007) 14.25
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell (2011) 8.46
Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry (2011) 6.98
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised. J Autism Dev Disord (2003) 6.51
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
The contribution of de novo coding mutations to autism spectrum disorder. Nature (2014) 5.94
Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet (2013) 5.58
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron (2010) 5.14
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat (2013) 5.11
Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44
mrsFAST: a cache-oblivious algorithm for short-read mapping. Nat Methods (2010) 4.38
Most genetic risk for autism resides with common variation. Nat Genet (2014) 4.10
A framework for the interpretation of de novo mutation in human disease. Nat Genet (2014) 4.00
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet (2012) 3.50
A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A (2007) 3.47
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
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet (2014) 2.18
Disruptive CHD8 mutations define a subtype of autism early in development. Cell (2014) 2.05
The role of de novo mutations in the genetics of autism spectrum disorders. Nat Rev Genet (2014) 1.96
R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips. Bioinformatics (2009) 1.83
Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol (2009) 1.78
A genotype-first approach to defining the subtypes of a complex disease. Cell (2014) 1.72
Using the R Package crlmm for Genotyping and Copy Number Estimation. J Stat Softw (2011) 1.41
An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning. PLoS Biol (2011) 1.40
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Am J Hum Genet (2013) 1.39
The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia. Biol Psychiatry (2011) 1.36
Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum Mol Genet (1995) 1.26
Transmission disequilibrium of small CNVs in simplex autism. Am J Hum Genet (2013) 1.26
Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay. Mol Autism (2013) 1.20
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet (2013) 1.16
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. Am J Med Genet B Neuropsychiatr Genet (2013) 1.13
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Rep (2014) 1.10
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. Mol Autism (2014) 1.10
A novel 4EHP-GIGYF2 translational repressor complex is essential for mammalian development. Mol Cell Biol (2012) 1.09
Digenic inheritance and Mendelian disease. Nat Genet (2012) 1.02
The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes. Nucleic Acids Res (2013) 1.01
QPLOT: a quality assessment tool for next generation sequencing data. Biomed Res Int (2013) 0.95
Simple estimation of population attributable risk from case-control studies. Am J Epidemiol (1977) 0.86
Insulin-like growth factor and the etiology of autism. Med Hypotheses (2013) 0.79
Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet (2014) 3.21
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet (2014) 1.55
Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families. Autism Res (2011) 1.06
Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet (2015) 0.87
Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med (2015) 0.84
Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population. Otolaryngol Head Neck Surg (2016) 0.81
Language characterization in 16p11.2 deletion and duplication syndromes. Am J Med Genet B Neuropsychiatr Genet (2020) 0.75