Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

paper Cited Public

Authors: Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium
Year: 2017
Journal: Molecular autism
PMID: 28540026
DOI: 10.1186/s13229-017-0137-9
PMCID: PMC5441062

BACKGROUND: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15). METHODS: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). RESULTS: We observe a GWS locus at 10q24.32 that overlaps several genes including , which encodes a transcription factor identified as playing a role in neuronal differentiation and previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; = 9 × 10). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as at 3p13, at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. CONCLUSIONS: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as , , , and

#	Section	Preview
0	Background	Autism spectrum disorder (ASD) is diagnosed in roughly 1% of the population [1, 2] and has complex…
1	Background	Importantly, common genetic variation explains roughly half of this genetic risk in ASD [7], making…
2	Background	In addition to identifying risk loci, we have examined whether gene-sets previously implicated in…
3	Background	Finally, evidence that common structural variation is shared by individuals with ASD, schizophrenia…
4	Methods — Participants	Using meta-analysis, we examined association from 14 independent cohorts contributed by eight…
5	Methods — Participants	ancestry’.Table 1Study design and sample size of the contributing ASD collections. For some…
6	Methods — Participants	We sought independent replication of our results using summary GWAS findings from two additional…
7	Methods — Statistical analyses — Genotyping quality control	Genotyping quality control and imputation of the 14 independent cohorts were performed by the PGC…
8	Methods — Statistical analyses — Association, meta-analyses, and binomial sign test	We tested all 14 cohorts individually for association under an additive logistic regression model…
9	Methods — Statistical analyses — Association, meta-analyses, and binomial sign test	We performed a meta-analysis of the individual GWAS using an inverse-weighted fixed effects model…
10	Methods — Statistical analyses — Association, meta-analyses, and binomial sign test	To aid interpretation, we report findings as linkage disequilibrium (LD) independent SNPs and the…
11	Methods — Statistical analyses — Association, meta-analyses, and binomial sign test	Binomial sign tests to evaluate the random direction effect between studies were implemented in…
12	Methods — Statistical analyses — Gene-based and gene-set analyses	Combining association signals for multiple loci across genes and gene-sets has the potential to…
13	Methods — Statistical analyses — Gene-based and gene-set analyses	To explore the converging biology hypothesis of ASD we examined enrichment within gene-sets derived…
14	Methods — Statistical analyses — LD score-based heritability	SNP-based heritability, genetic correlation estimation, and partitioned heritability analyses were…
15	Results — Association analyses	Following quality control, the primary meta-analysis (Worldwide ancestry (WW)) included data on…
16	Results — Replication	Although none of the discovery markers exceeded the GWS threshold, we wanted to further test the…
17	Results — Replication	Therefore, we sought replication of the primary PGC ASD GWAS (WW). Summary association data were…
18	Results — Replication	A second replication set from the deCODE/SEED ASD GWAS was also available. Due to platform…
19	Results — Replication	When the top association signals from the PGC ASD GWAS (P < 10−4) were meta-analysed against the…

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Genetic variants in the HLA region contribute to the risk of cerebral palsy.	Cheng Y et al.	—	2024	→
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts.	Li S et al.	—	2024	→
Giftedness and atypical sexual differentiation: enhanced perceptual functioning through estrogen deficiency instead of androgen excess.	Sakaguchi K et al.	—	2024	→
Heritability and genetic contribution analysis of structural-functional coupling in human brain.	Dai W et al.	—	2024	→
Identifying the impact of ARHGAP and MAP gene families on autism spectrum disorders.	Gao T et al.	—	2024	→
Inhibitory dysfunction and social processing difficulties in autism: A comprehensive narrative review.	Parrella NF et al.	—	2024	→
KCNH5 deletion increases autism susceptibility by regulating neuronal growth through Akt/mTOR signaling pathway.	Yu L et al.	—	2024	→
Korean Clinical Guideline for Autism Spectrum Disorder - Clinical Features, Course, Epidemiology, and Cause.	Hwang JW et al.	—	2024	→
Mapping the relative accuracy of cross-ancestry prediction.	Lupi AS et al.	—	2024	→
Massively parallel characterization of regulatory elements in the developing human cortex.	Deng C et al.	—	2024	→
Mechanism of electroconvulsive therapy in schizophrenia: a bioinformatics analysis study of RNA-seq data.	Wang T et al.	—	2024	→
Mitochondrial related Mendelian randomization identifies causal associations between metabolic disorders and childhood neurodevelopmental disorders.	Hu C et al.	—	2024	→
Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.	Bui DT et al.	—	2024	→
Polygenic risk of social isolation behavior and its influence on psychopathology and personality.	Socrates AJ et al.	—	2024	→
Recapitulation of Perturbed Striatal Gene Expression Dynamics of Donors' Brains With Ventral Forebrain Organoids Derived From the Same Individuals With Schizophrenia.	Sawada T et al.	—	2024	→
Relationship between sex biases in gene expression and sex biases in autism and Alzheimer's disease.	Fass SB et al.	—	2024	→
Replication of previous autism-GWAS hits suggests the association between <i>NAA1, SORCS3,</i> and <i>GSDME</i> and autism in the Han Chinese population.	Lin F et al.	—	2024	→
Sex-Differential Gene Expression in Developing Human Cortex and Its Intersection With Autism Risk Pathways.	Kissel LT et al.	—	2024	→
The Etiology of Autism Spectrum Disorder and Gender Dysphoria.	Nelson A et al.	—	2024	→
The Genetic Architecture of Amygdala Nuclei.	Mufford MS et al.	—	2024	→
The genetic landscape of autism spectrum disorder in the Middle Eastern population.	Al-Sarraj Y et al.	—	2024	→
The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism.	Nóbrega IS et al.	—	2024	→
A Gene Set-Integrated Approach for Predicting Disease-Associated Genes.	Li HD et al.	—	2023	→
Altered distribution and localization of organellar Na<sup>+</sup>/H<sup>+</sup> exchangers in postmortem schizophrenia dorsolateral prefrontal cortex.	Pruett BS et al.	—	2023	→
Astrocytic cell adhesion genes linked to schizophrenia correlate with synaptic programs in neurons.	Pietiläinen O et al.	—	2023	→
A study of the genetic architecture of social responsiveness in families with parental schizophrenia or bipolar disorder and population-based controls.	Veddum L et al.	—	2023	→
Autism spectrum disorder and brain volume link through a set of mTOR-related genes.	Arenella M et al.	—	2023	→
Autism spectrum disorder research: knowledge mapping of progress and focus between 2011 and 2022.	Jiang M et al.	—	2023	→
Blood Proteomics Analysis Reveals Potential Biomarkers and Convergent Dysregulated Pathways in Autism Spectrum Disorder: A Pilot Study.	Mesleh A et al.	—	2023	→
Candidate genes for domestication and resistance to cold climate according to whole genome sequencing data of Russian cattle and sheep breeds.	Yudin NS et al.	—	2023	→
Correlation of mutated gene and signalling pathways in ASD.	Apte M et al.	—	2023	→
Cross-disorder GWAS meta-analysis of endocannabinoid DNA variations in major depressive disorder, bipolar disorder, attention deficit hyperactivity disorder, autism spectrum disorder, and schizophrenia.	Kim HK et al.	—	2023	→
De novo network analysis reveals autism causal genes and developmental links to co-occurring traits.	Miller CJ et al.	—	2023	→
Distributed genetic effects of the corpus callosum subregions suggest links to neuropsychiatric disorders and related traits.	Campbell ML et al.	—	2023	→
Divergent risky decision-making and impulsivity behaviors in Lewis rat substrains with low genetic difference.	Gabriel DBK et al.	—	2023	→
DNA methylation at birth and fine motor ability in childhood: an epigenome-wide association study with replication.	Serdarevic F et al.	—	2023	→
Evaluating 17 methods incorporating biological function with GWAS summary statistics to accelerate discovery demonstrates a tradeoff between high sensitivity and high positive predictive value.	Moore A et al.	—	2023	→
Genetic architecture of the white matter connectome of the human brain.	Sha Z et al.	—	2023	→
Genome-wide DNA methylation association study of recent and cumulative marijuana use in middle aged adults.	Nannini DR et al.	—	2023	→
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.	Vilela J et al.	—	2023	→
Machine learning dissection of human accelerated regions in primate neurodevelopment.	Whalen S et al.	—	2023	→
Mapping anorexia nervosa genes to clinical phenotypes.	Johnson JS et al.	—	2023	→
Microbiome-Gut-Mucosal-Immune-Brain Axis and Autism Spectrum Disorder (ASD): A Novel Proposal of the Role of the Gut Microbiome in ASD Aetiology.	De Sales-Millán A et al.	—	2023	→
Multivariate genomic architecture of cortical thickness and surface area at multiple levels of analysis.	Grotzinger AD et al.	—	2023	→
Neurological and psychiatric disorders among autistic adults: a population healthcare record study.	Underwood JFG et al.	—	2023	→
Oxytocin Exposure in Labor and its Relationship with Cognitive Impairment and the Genetic Architecture of Autism.	García-Alcón A et al.	—	2023	→
Phosphodiesterase and psychiatric disorders: a two-sample Mendelian randomization study.	Jiang M et al.	—	2023	→
Placental DNA methylation profile as predicting marker for autism spectrum disorder (ASD).	Ravaei A et al.	—	2023	→
Polymorphisms in Oxytocin and Vasopressin Receptor Genes as a Factor Shaping the Clinical Picture and the Risk of ASD in Males.	Wilczyński KM et al.	—	2023	→
Regulation of Biomolecular Condensates by Poly(ADP-ribose).	Rhine K et al.	—	2023	→
Rethinking the First Episode of Schizophrenia: Identifying Convergent Mechanisms During Development and Moving Toward Prediction.	Forsyth JK et al.	—	2023	→
Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids.	Sebastian R et al.	—	2023	→
Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease.	Khrom M et al.	—	2023	→
Swedish multimodal cohort of patients with anxiety or depression treated with internet-delivered psychotherapy (MULTI-PSYCH).	Boberg J et al.	—	2023	→
The association between polygenic risk scores for mental disorders and social cognition: A scoping review.	Fusar-Poli L et al.	—	2023	→
The genetics of autism and steroid-related traits in prenatal and postnatal life.	Tsompanidis A et al.	—	2023	→
The influence of early moderate prenatal alcohol exposure and maternal diet on offspring DNA methylation: a cross-species study	Bestry M et al.	—	2023	—
The molecular genetics of nELAVL in brain development and disease.	Mulligan MR et al.	—	2023	→
The shared genetic risk factors between Tourette syndrome and obsessive-compulsive disorder.	Khoodoruth MAS et al.	—	2023	→
Transcriptome-Wide Structural Equation Modeling of 13 Major Psychiatric Disorders for Cross-Disorder Risk and Drug Repurposing.	Grotzinger AD et al.	—	2023	→
Ultrarare Missense Variants Implicated in Utah Pedigrees Multiply Affected With Schizophrenia.	Ormond C et al.	—	2023	→
17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.	Warren EB et al.	—	2022	→
A genome-wide association study of total child psychiatric problems scores.	Neumann A et al.	—	2022	→
A Genome-Wide Association Study Reveals a <i>BDNF</i>-Centered Molecular Network Associated with Alcohol Dependence and Related Clinical Measures.	Levchenko A et al.	—	2022	→
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.	Tuncay IO et al.	—	2022	→
Association between plasma proteome and childhood neurodevelopmental disorders: A two-sample Mendelian randomization analysis.	Yang J et al.	—	2022	→
Associations between brain imaging and polygenic scores of mental health and educational attainment in children aged 9-11.	Fernandez-Cabello S et al.	—	2022	→
Autism, heparan sulfate and potential interventions.	Alexander J et al.	—	2022	→
Bridging between Mouse and Human Enhancer-Promoter Long-Range Interactions in Neural Stem Cells, to Understand Enhancer Function in Neurodevelopmental Disease.	D'Aurizio R et al.	—	2022	→
Characterizing the polygenic overlaps of bipolar disorder subtypes with schizophrenia and major depressive disorder.	Li Z et al.	—	2022	→
Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay.	Liu Y et al.	—	2022	→
Common targetable inflammatory pathways in brain transcriptome of autism spectrum disorders and Tourette syndrome.	Alshammery S et al.	—	2022	→
Common variants contribute to intrinsic human brain functional networks.	Zhao B et al.	—	2022	→
Comprehensive and integrative analyses identify TYW5 as a schizophrenia risk gene.	Zhang C et al.	—	2022	→
DeepND: Deep multitask learning of gene risk for comorbid neurodevelopmental disorders.	Beyreli I et al.	—	2022	→
Detection of Association Features Based on Gene Eigenvalues and MRI Imaging Using Genetic Weighted Random Forest.	Hu Z et al.	—	2022	→
Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.	Vilela J et al.	—	2022	→
Dysregulated gene expression associated with inflammatory and translation pathways in activated monocytes from children with autism spectrum disorder.	Hughes HK et al.	—	2022	→
Epigenome-wide association study of global cortical volumes in generation Scotland: Scottish family health study.	Barbu MC et al.	—	2022	→
Evolution of the Human Brain Can Help Determine Pathophysiology of Neurodevelopmental Disorders.	Irie K et al.	—	2022	→
Familial risk of postpartum depression.	Rasmussen MH et al.	—	2022	→
Gene-based association tests using GWAS summary statistics and incorporating eQTL.	Cao X et al.	—	2022	→
Genetic variants associated with longitudinal changes in brain structure across the lifespan.	Brouwer RM et al.	—	2022	→
Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.	Roselli C et al.	—	2022	→
Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder.	Doi M et al.	—	2022	→
Head-to-head comparison of various antipsychotic agents on genome-wide methylation in schizophrenia.	Adanty C et al.	—	2022	→
How genetic analysis may contribute to the understanding of avoidant/restrictive food intake disorder (ARFID).	Kennedy HL et al.	—	2022	→
Integration of multidimensional splicing data and GWAS summary statistics for risk gene discovery.	Ji Y et al.	—	2022	→
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.	Perfilyeva A et al.	—	2022	→
JUN and PDGFRA as Crucial Candidate Genes for Childhood Autism Spectrum Disorder.	Li H et al.	—	2022	→
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design.	Yang Y et al.	—	2022	→
Large-scale genetic correlation scanning and causal association between deep vein thrombosis and human blood metabolites.	Luo P et al.	—	2022	→
Latent subtypes of manic and/or irritable episode symptoms in two population-based cohorts - ERRATUM.	Arathimos R et al.	—	2022	→
LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes.	Saeliw T et al.	—	2022	→
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.	Lybaek H et al.	—	2022	→
Mapping gene by early life stress interactions on child subcortical brain structures: A genome-wide prospective study.	Bolhuis K et al.	—	2022	→
Maternal levels of acute phase proteins in early pregnancy and risk of autism spectrum disorders in offspring.	Brynge M et al.	—	2022	→
Maternal Prenatal Anxiety and the Fetal Origins of Epigenetic Aging.	McGill MG et al.	—	2022	→
Mutational Landscape of Autism Spectrum Disorder Brain Tissue.	Woodbury-Smith M et al.	—	2022	→
Patterns of Convergence and Divergence Between Bipolar Disorder Type I and Type II: Evidence From Integrative Genomic Analyses.	Huang Y et al.	—	2022	→
Phenotypic and genetic analysis of a wellbeing factor score in the UK Biobank and the impact of childhood maltreatment and psychiatric illness.	Jamshidi J et al.	—	2022	→
Phosphodiesterase 2A inhibition corrects the aberrant behavioral traits observed in genetic and environmental preclinical models of Autism Spectrum Disorder.	Schiavi S et al.	—	2022	→
Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits.	Arenella M et al.	—	2022	→
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.	Teles E Silva AL et al.	—	2022	→
Re-emerging concepts of immune dysregulation in autism spectrum disorders.	Erbescu A et al.	—	2022	→
scGWAS: landscape of trait-cell type associations by integrating single-cell transcriptomics-wide and genome-wide association studies.	Jia P et al.	—	2022	→
Searching for signatures of sexually antagonistic selection on stickleback sex chromosomes.	Dagilis AJ et al.	—	2022	→
The causal association between iron status and the risk of autism: A Mendelian randomization study.	Chen L et al.	—	2022	→
Whole-genome sequencing reveals the genetic mechanisms of domestication in classical inbred mice.	Liu M et al.	—	2022	→
X Chromosome Inactivation Timing is Not e<i>XACT</i>: Implications for Autism Spectrum Disorders.	LaSalle JM	—	2022	→
3D promoter architecture re-organization during iPSC-derived neuronal cell differentiation implicates target genes for neurodevelopmental disorders.	Su C et al.	—	2021	→
A comprehensive gene-centric pleiotropic association analysis for 14 psychiatric disorders with GWAS summary statistics.	Lu H et al.	—	2021	→
A genome-wide association study identifies a gene network associated with paranoid schizophrenia and antipsychotics-induced tardive dyskinesia.	Levchenko A et al.	—	2021	→
A machine learning case-control classifier for schizophrenia based on DNA methylation in blood.	Gunasekara CJ et al.	—	2021	→
A polygenic resilience score moderates the genetic risk for schizophrenia.	Hess JL et al.	—	2021	→
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.	Arghir A et al.	—	2021	→
Autism-Associated DNA Methylation at Birth From Multiple Tissues Is Enriched for Autism Genes in the Early Autism Risk Longitudinal Investigation.	Bakulski KM et al.	—	2021	→
Causal inference for heritable phenotypic risk factors using heterogeneous genetic instruments.	Wang J et al.	—	2021	→
Cell-Type-Specific Gene Modules Related to the Regional Homogeneity of Spontaneous Brain Activity and Their Associations With Common Brain Disorders.	Shen J et al.	—	2021	→
Characterizing the Genetic Overlap Between Psychiatric Disorders and Sleep-Related Phenotypes.	O'Connell KS et al.	—	2021	→
Common variants of the autism-associated CNTNAP2 gene contribute to the modulatory effect of social function mediated by temporal cortex.	Li D et al.	—	2021	→
Comprehensive Integrative Analyses Identify TIGD5 rs75547282 as a Risk Variant for Autism Spectrum Disorder.	Xie X et al.	—	2021	→
Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders.	Pagan C et al.	—	2021	→
Dissect Relationships Between Gene Co-expression and Functional Connectivity in Human Brain.	Zhang X et al.	—	2021	→
Distinct effect of prenatal and postnatal brain expression across 20 brain disorders and anthropometric social traits: a systematic study of spatiotemporal modularity.	Jia P et al.	—	2021	→
Early Life Experiences Moderate the Relationship Between Genetic Risk of Autism and Current and Lifetime Mental Health.	Shin SH et al.	—	2021	→
Epigenetic Age Acceleration Was Delayed in Schizophrenia.	Wu X et al.	—	2021	→
Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families.	Al-Sarraj Y et al.	—	2021	→
Functional enhancer elements drive subclass-selective expression from mouse to primate neocortex.	Mich JK et al.	—	2021	→
Gene-based association analysis identifies 190 genes affecting neuroticism.	Belonogova NM et al.	—	2021	→
Gene co-expression network analysis in human spinal cord highlights mechanisms underlying amyotrophic lateral sclerosis susceptibility.	Wang JC et al.	—	2021	→
Genetic and clinical analyses of psychosis spectrum symptoms in a large multiethnic youth cohort reveal significant link with ADHD.	Olde Loohuis LM et al.	—	2021	→
Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts.	McKenna BG et al.	—	2021	→
Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci.	Qu HQ et al.	—	2021	→
Genetic contributions to autism spectrum disorder.	Havdahl A et al.	—	2021	→
Genetic Overlap Between Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in <i>SHANK2</i> Gene.	Ma SL et al.	—	2021	→
Genetic underpinnings of affective temperaments: a pilot GWAS investigation identifies a new genome-wide significant SNP for anxious temperament in ADGRB3 gene.	Gonda X et al.	—	2021	→
Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk.	Park CY et al.	—	2021	→
Gluten and Autism Spectrum Disorder.	Croall ID et al.	—	2021	→
How rare and common risk variation jointly affect liability for autism spectrum disorder.	Klei L et al.	—	2021	→
Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome.	Baird DA et al.	—	2021	→
Increased schizophrenia family history burden and reduced premorbid IQ in treatment-resistant schizophrenia: a Swedish National Register and Genomic Study.	Kowalec K et al.	—	2021	→
Increasing the resolution and precision of psychiatric genome-wide association studies by re-imputing summary statistics using a large, diverse reference panel.	Chatzinakos C et al.	—	2021	→
Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum.	Yang Z et al.	—	2021	→
Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders.	Searles Quick VB et al.	—	2021	→
Maternal autoimmunity and inflammation are associated with childhood tics and obsessive-compulsive disorder: Transcriptomic data show common enriched innate immune pathways.	Jones HF et al.	—	2021	→
Molecular Dysregulation in Autism Spectrum Disorder.	Gill PS et al.	—	2021	→
Neuroplastin in Neuropsychiatric Diseases.	Lin X et al.	—	2021	→
Nicotinic regulation of local and long-range input balance drives top-down attentional circuit maturation.	Falk EN et al.	—	2021	→
Peripheral Expression of <i>MACROD2</i> Gene Is Reduced Among a Sample of Turkish Children with Autism Spectrum Disorder.	Alnak A et al.	—	2021	→
Pleiotropy and Cross-Disorder Genetics Among Psychiatric Disorders.	Lee PH et al.	—	2021	→
Predictors of social functioning and quality of life in schizophrenia and autism spectrum disorder.	Corbera S et al.	—	2021	→
Rare germline variants in individuals diagnosed with schizophrenia within multiplex families.	Li S et al.	—	2021	→
Role of phosphodiesterases in the pathophysiology of neurodevelopmental disorders.	Delhaye S et al.	—	2021	→
Sex differences in the genetic regulation of the blood transcriptome response to glucocorticoid receptor activation.	Moore SR et al.	—	2021	→
Sex-stratified genome-wide association study of multisite chronic pain in UK Biobank.	Johnston KJA et al.	—	2021	→
Sperm DNA methylation epimutation biomarker for paternal offspring autism susceptibility.	Garrido N et al.	—	2021	→
Synaptic processes and immune-related pathways implicated in Tourette syndrome.	Tsetsos F et al.	—	2021	→
The association of polygenic risk for schizophrenia, bipolar disorder, and depression with neural connectivity in adolescents and young adults: examining developmental and sex differences.	Meyers JL et al.	—	2021	→
The genetic architecture of the human thalamus and its overlap with ten common brain disorders.	Elvsåshagen T et al.	—	2021	→
The pediatric psychopharmacology of autism spectrum disorder: A systematic review - Part I: The past and the present.	Persico AM et al.	—	2021	→
Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment.	Eyring KW et al.	—	2021	→
Valproic Acid Induces Autism-Like Synaptic and Behavioral Deficits by Disrupting Histone Acetylation of Prefrontal Cortex ALDH1A1 in Rats.	Liu H et al.	—	2021	→
(ADP-ribosyl)hydrolases: structure, function, and biology.	Rack JGM et al.	—	2020	→
Aggression based genome-wide, glutamatergic, dopaminergic and neuroendocrine polygenic risk scores predict callous-unemotional traits.	Ruisch IH et al.	—	2020	→
An atlas of genetic correlations between psychiatric disorders and human blood plasma proteome.	Cheng S et al.	—	2020	→
A powerful fine-mapping method for transcriptome-wide association studies.	Wu C et al.	—	2020	→
Automated feature extraction from population wearable device data identified novel loci associated with sleep and circadian rhythms.	Li X et al.	—	2020	→
Brain mRNA Expression Associated with Cortical Volume Alterations in Autism Spectrum Disorder.	Xie Y et al.	—	2020	→
Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS).	Mahjani B et al.	—	2020	→
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.	Matoba N et al.	—	2020	→
Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes.	Mordaunt CE et al.	—	2020	→
Current challenges and possible future developments in personalized psychiatry with an emphasis on psychotic disorders.	Levchenko A et al.	—	2020	→
Epigenetic mechanism of SETDB1 in brain: implications for neuropsychiatric disorders.	Zhu Y et al.	—	2020	→
Epigenomic Convergence of Neural-Immune Risk Factors in Neurodevelopmental Disorder Cortex.	Vogel Ciernia A et al.	—	2020	→
Evaluating the Genetic Correlations Between Left-Handedness and Mental Disorder Using Linkage Disequilibrium Score Regression and Transcriptome-Wide Association Study.	Cheng B et al.	—	2020	→
Gene Expression Correlates of the Cortical Network Underlying Sentence Processing.	Kong XZ et al.	—	2020	→
Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder.	Yoon SH et al.	—	2020	→
Genetic Intersections of Language and Neuropsychiatric Conditions.	Koomar T et al.	—	2020	→
Genetic Risk of Autism Spectrum Disorder in a Pakistani Population.	Khalid M et al.	—	2020	→
Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis.	Lee J et al.	—	2020	→
Genome-wide association study of emotional empathy in children.	Woodbury-Smith MR et al.	—	2020	→
Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants.	Persyn E et al.	—	2020	→
Genome-Wide Association Study of Suicide Death and Polygenic Prediction of Clinical Antecedents.	Docherty AR et al.	—	2020	→
Genome-wide association study of word reading: Overlap with risk genes for neurodevelopmental disorders.	Price KM et al.	—	2020	→
High polygenic burden is associated with blood DNA methylation changes in individuals with suicidal behavior.	Cabrera-Mendoza B et al.	—	2020	→
Identification of de novo mutations in prenatal neurodevelopment-associated genes in schizophrenia in two Han Chinese patient-sibling family-based cohorts.	Jiang S et al.	—	2020	→
Identification of novel SNPs associated with coronary artery disease and birth weight using a pleiotropic cFDR method.	Wu X et al.	—	2020	→
Identification of Reproducible BCL11A Alterations in Schizophrenia Through Individual-Level Prediction of Coexpression.	Chen J et al.	—	2020	→
Identifying psychiatric disorder-associated gut microbiota using microbiota-related gene set enrichment analysis.	Cheng S et al.	—	2020	→
Integrative genomics approach identifies conserved transcriptomic networks in Alzheimer's disease.	Morabito S et al.	—	2020	→
Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism.	Ramaswami G et al.	—	2020	→
Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD.	Gui A et al.	—	2020	→
Machine Learning for Differential Diagnosis Between Clinical Conditions With Social Difficulty: Autism Spectrum Disorder, Early Psychosis, and Social Anxiety Disorder.	Demetriou EA et al.	—	2020	→
Maternal Immunity in Autism Spectrum Disorders: Questions of Causality, Validity, and Specificity.	Ji-Xu A et al.	—	2020	→
Polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia.	Qin Y et al.	—	2020	→
Prenatal exposure to environmental insults and enhanced risk of developing Schizophrenia and Autism Spectrum Disorder: focus on biological pathways and epigenetic mechanisms.	Cattane N et al.	—	2020	→
Probing disrupted neurodevelopment in autism using human stem cell-derived neurons and organoids: An outlook into future diagnostics and drug development.	Yang G et al.	—	2020	→
Psychiatric Polygenic Risk Scores as Predictor for Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in a Clinical Child and Adolescent Sample.	Jansen AG et al.	—	2020	→
Rare variants and biological pathways identified in treatment-refractory depression.	McClain LL et al.	—	2020	→
Schizophrenia risk variants influence multiple classes of transcripts of sorting nexin 19 (SNX19).	Ma L et al.	—	2020	→
Single-Cell Analysis of the Gene Expression Effects of Developmental Lead (Pb) Exposure on the Mouse Hippocampus.	Bakulski KM et al.	—	2020	→
Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1.	Woycinck Kowalski T et al.	—	2020	→
The Genetic Control of Stoichiometry Underlying Autism.	Darnell RB	—	2020	→
The role of rare compound heterozygous events in autism spectrum disorder.	Lin BD et al.	—	2020	→
Three-dimensional genome restructuring across timescales of activity-induced neuronal gene expression.	Beagan JA et al.	—	2020	→
TSEA-DB: a trait-tissue association map for human complex traits and diseases.	Jia P et al.	—	2020	→
TWAS pathway method greatly enhances the number of leads for uncovering the molecular underpinnings of psychiatric disorders.	Chatzinakos C et al.	—	2020	→
Understanding the genetics of neuropsychiatric disorders: the potential role of genomic regulatory blocks.	Barešić A et al.	—	2020	→
White matter microstructural alterations across four major psychiatric disorders: mega-analysis study in 2937 individuals.	Koshiyama D et al.	—	2020	→
Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.	Kim N et al.	—	2020	→
Accelerated evolution of oligodendrocytes in the human brain.	Berto S et al.	—	2019	→
"A circle and a triangle dancing together": Alteration of social cognition in schizophrenia compared to autism spectrum disorders.	Martinez G et al.	—	2019	→
ADGRL3 rs6551665 as a Common Vulnerability Factor Underlying Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder.	Kappel DB et al.	—	2019	→
A genome-wide association meta-analysis of prognostic outcomes following cognitive behavioural therapy in individuals with anxiety and depressive disorders.	Rayner C et al.	—	2019	→
A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment.	Schork AJ et al.	—	2019	→
A Longitudinal Model of Human Neuronal Differentiation for Functional Investigation of Schizophrenia Polygenic Risk.	Ori APS et al.	—	2019	→
A meta-analysis of two high-risk prospective cohort studies reveals autism-specific transcriptional changes to chromatin, autoimmune, and environmental response genes in umbilical cord blood.	Mordaunt CE et al.	—	2019	→
Analysis of the SNP rs3747333 and rs3747334 in NLGN4X gene in autism spectrum disorder: a meta-analysis.	Sun H et al.	—	2019	→
An Analysis of Cellular Communication Network Factor Proteins as Candidate Mediators of Postpartum Psychosis Risk.	Davies W	—	2019	→
A population-based heritability estimate of bipolar disorder - In a Swedish twin sample.	Johansson V et al.	—	2019	→
Both rare and common genetic variants contribute to autism in the Faroe Islands.	Leblond CS et al.	—	2019	→
Cross-Cultural Validation of the Polish Version of the ADI-R, Including New Algorithms for Toddlers and Young Preschoolers.	Chojnicka I et al.	—	2019	→
Cross-species models of attention-deficit/hyperactivity disorder and autism spectrum disorder: lessons from CNTNAP2, ADGRL3, and PARK2.	Dalla Vecchia E et al.	—	2019	→
Differential expression of neurexin genes in the mouse brain.	Uchigashima M et al.	—	2019	→
Elucidation of causal direction between asthma and obesity: a bi-directional Mendelian randomization study.	Xu S et al.	—	2019	→
Epigenetic Regulation of the Social Brain.	Bludau A et al.	—	2019	→
eQTLs Weighted Genetic Correlation Analysis Detected Brain Region Differences in Genetic Correlations for Complex Psychiatric Disorders.	Wen Y et al.	—	2019	→
Essential genetic findings in neurodevelopmental disorders.	Cardoso AR et al.	—	2019	→
Evidence of Assortative Mating in Autism Spectrum Disorder.	Connolly S et al.	—	2019	→
Executive functioning and neurodevelopmental disorders in early childhood: a prospective population-based study.	Otterman DL et al.	—	2019	→
From the neo-Kraepelinian framework to the new mechanical philosophy of psychiatry: regaining common sense	Joober R et al.	—	2019	→
Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders.	Andrade A et al.	—	2019	→
Genetic Causes and Modifiers of Autism Spectrum Disorder.	Rylaarsdam L et al.	—	2019	→
Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms.	Walker RL et al.	—	2019	→
Genetic correlations of psychiatric traits with body composition and glycemic traits are sex- and age-dependent.	Hübel C et al.	—	2019	→
Genetics of Eating Disorders: What the Clinician Needs to Know.	Bulik CM et al.	—	2019	→
Genetics of response to cognitive behavior therapy in adults with major depression: a preliminary report.	Andersson E et al.	—	2019	→
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia.	Gialluisi A et al.	—	2019	→
Genome-wide association studies identify susceptibility loci for epithelial ovarian cancer in east Asian women.	Lawrenson K et al.	—	2019	→
Genome-wide association study and identification of chromosomal enhancer maps in multiple brain regions related to autism spectrum disorder.	Zhang L et al.	—	2019	→
Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.	Kranzler HR et al.	—	2019	→
Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits.	Grotzinger AD et al.	—	2019	→
Getting to the Cores of Autism.	Iakoucheva LM et al.	—	2019	→
GWAS of Behavioral Traits.	Mehta D et al.	—	2019	→
How genome-wide association studies (GWAS) made traditional candidate gene studies obsolete.	Duncan LE et al.	—	2019	→
<i>De novo</i> Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application.	Wang W et al.	—	2019	→
Identification and Massively Parallel Characterization of Regulatory Elements Driving Neural Induction.	Inoue F et al.	—	2019	→
Identification of common genetic risk variants for autism spectrum disorder.	Grove J et al.	—	2019	→
Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns.	Czamara D et al.	—	2019	→
Integrated genetic and methylomic analyses identify shared biology between autism and autistic traits.	Massrali A et al.	—	2019	→
Investigation of multi-trait associations using pathway-based analysis of GWAS summary statistics.	Pei G et al.	—	2019	→
Multivariate analysis of genome-wide data to identify potential pleiotropic genes for five major psychiatric disorders using MetaCCA.	Jia X et al.	—	2019	→
Network-Based Integrative Analysis of Genomics, Epigenomics and Transcriptomics in Autism Spectrum Disorders.	Di Nanni N et al.	—	2019	→
Network-based prediction of polygenic disease genes involved in cell motility.	Bern M et al.	—	2019	→
Novel Insight Into the Etiology of Autism Spectrum Disorder Gained by Integrating Expression Data With Genome-wide Association Statistics.	Pain O et al.	—	2019	→
Poly(ADP-Ribosylation) in Age-Related Neurological Disease.	McGurk L et al.	—	2019	→
Rediscovering the value of families for psychiatric genetics research.	Glahn DC et al.	—	2019	→
Reduced neonatal brain-derived neurotrophic factor is associated with autism spectrum disorders.	Skogstrand K et al.	—	2019	→
Regulatory genes and pathways disrupted in autism spectrum disorders.	Ayhan F et al.	—	2019	→
Relationships between substance abuse/dependence and psychiatric disorders based on polygenic scores.	Gurriarán X et al.	—	2019	→
Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population.	Wang Z et al.	—	2019	→
RNA sequencing of identical twins discordant for autism reveals blood-based signatures implicating immune and transcriptional dysregulation.	Saffari A et al.	—	2019	→
Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.	Zhu Z et al.	—	2019	→
Shared Genetics of Psychiatric Disorders.	Fuller T et al.	—	2019	→
Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap.	Gandal MJ et al.	—	2019	→
Stress-Induced Neuron Remodeling Reveals Differential Interplay Between Neurexin and Environmental Factors in <i>Caenorhabditis elegans</i>.	Hart MP	—	2019	→
Systematic Review of Literature on Single-Nucleotide Polymorphisms Within the Oxytocin and Vasopressin Receptor Genes in the Development of Social Cognition Dysfunctions in Individuals Suffering From Autism Spectrum Disorder.	Wilczyński KM et al.	—	2019	→
Target Genes of Autism Risk Loci in Brain Frontal Cortex.	Sun Y et al.	—	2019	→
The bidirectional causal relationships of insomnia with five major psychiatric disorders: A Mendelian randomization study.	Gao X et al.	—	2019	→
The Drosophila Gene <i>Sulfateless</i> Modulates Autism-Like Behaviors.	Hope KA et al.	—	2019	→
The genetic relationship between female reproductive traits and six psychiatric disorders.	Ni G et al.	—	2019	→
The Long Noncoding RNA <i>RPS10P2-AS1</i> Is Implicated in Autism Spectrum Disorder Risk and Modulates Gene Expression in Human Neuronal Progenitor Cells.	Bilinovich SM et al.	—	2019	→
Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes	Torrico B et al.	—	2019	→
5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder.	Cheng Y et al.	—	2018	→
A case-control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene.	Hawi Z et al.	—	2018	→
Advances in our understanding of the genetics of childhood neurodevelopmental disorders.	Doherty J et al.	—	2018	→
A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.	Woodbury-Smith M et al.	—	2018	→
A Review of Oxytocin and Arginine-Vasopressin Receptors and Their Modulation of Autism Spectrum Disorder.	Cataldo I et al.	—	2018	→
Assessing the evidence for shared genetic risks across psychiatric disorders and traits.	Martin J et al.	—	2018	→
A unifying framework for joint trait analysis under a non-infinitesimal model.	Johnson R et al.	—	2018	→
Big Data's Role in Precision Public Health.	Dolley S	—	2018	→
Cancer- and behavior-related genes are targeted by selection in the Tasmanian devil (Sarcophilus harrisii).	Hubert JN et al.	—	2018	→
Case-control meta-analysis of blood DNA methylation and autism spectrum disorder.	Andrews SV et al.	—	2018	→
Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.	Toma C et al.	—	2018	→
Developing DNA methylation-based diagnostic biomarkers.	Kim H et al.	—	2018	→
Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.	Kopp ND et al.	—	2018	→
Explorations and perspectives on the neurobiological bases of autism spectrum disorder.	Foxe JJ et al.	—	2018	→
Genetic contribution to 'theory of mind' in adolescence.	Warrier V et al.	—	2018	→
Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.	Tylee DS et al.	—	2018	→
Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis.	Velthorst E et al.	—	2018	→
Genetics of self-reported risk-taking behaviour, trans-ethnic consistency and relevance to brain gene expression.	Strawbridge RJ et al.	—	2018	→
Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.	Soler J et al.	—	2018	→
Genome-wide association study for risk taking propensity indicates shared pathways with body mass index.	Clifton EAD et al.	—	2018	→
Genome-Wide Association Study of Circadian Rhythmicity in 71,500 UK Biobank Participants and Polygenic Association with Mood Instability.	Ferguson A et al.	—	2018	→
Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice.	Courchet V et al.	—	2018	→
<i>De novo</i> Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis.	Alonso-Gonzalez A et al.	—	2018	→
iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes.	Khan A et al.	—	2018	→
Item-level analyses reveal genetic heterogeneity in neuroticism.	Nagel M et al.	—	2018	→
Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder.	Sestan N et al.	—	2018	→
Mitochondrial Etiology of Neuropsychiatric Disorders.	Pei L et al.	—	2018	→
Multivariate analysis of genomics data to identify potential pleiotropic genes for type 2 diabetes, obesity and dyslipidemia using Meta-CCA and gene-based approach.	Chen YC et al.	—	2018	→
Overview of genetic models of autism spectrum disorders.	Patel J et al.	—	2018	→
Progress in the genetics of autism spectrum disorder.	Woodbury-Smith M et al.	—	2018	→
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.	Gandal MJ et al.	—	2018	→
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research.	SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org et al.	—	2018	→
Statistical power and utility of meta-analysis methods for cross-phenotype genome-wide association studies.	Zhu Z et al.	—	2018	→
Thalamic Reticular Dysfunction as a Circuit Endophenotype in Neurodevelopmental Disorders.	Krol A et al.	—	2018	→
The central role of DNA damage and repair in CAG repeat diseases.	Massey TH et al.	—	2018	→
The future of humans as model organisms.	FitzGerald G et al.	—	2018	→
The Genetics and Genomics of Asthma.	Willis-Owen SAG et al.	—	2018	→
The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations.	Muglia P et al.	—	2018	→
The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders.	Willsey AJ et al.	—	2018	→
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders.	Walters RK et al.	—	2018	→
Transcriptional network analysis on brains reveals a potential regulatory role of PPP1R3F in autism spectrum disorders.	Doostparast Torshizi A et al.	—	2018	→
Variability in Resting State Network and Functional Network Connectivity Associated With Schizophrenia Genetic Risk: A Pilot Study.	Chen J et al.	—	2018	→
Bio-collections in autism research.	Reilly J et al.	—	2017	→
Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder.	Andrews SV et al.	—	2017	→
Prepubertal Ovariectomy Exaggerates Adult Affective Behaviors and Alters the Hippocampal Transcriptome in a Genetic Rat Model of Depression.	Raghavan NS et al.	—	2017	→
Progress in Genetic Studies of Tourette's Syndrome.	Qi Y et al.	—	2017	→
Prospective investigation of FOXP1 syndrome.	Siper PM et al.	—	2017	→
Whole genome sequencing in psychiatric disorders: the WGSPD consortium.	Sanders SJ et al.	—	2017	→