A genome-wide scan for common alleles affecting risk for autism.
paper
Primary
Public
- Authors
- Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Sykes, Nuala; Pagnamenta, Alistair T; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; BΓΆlte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chu, Su H; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Melhem, Nadine M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, InΓͺs; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Miller, Judith; Monaco, Anthony P; Nurnberger, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Devlin, Bernie; Ennis, Sean; Hallmayer, Joachim
- Year
- 2010
- Journal
- Human molecular genetics
- PMID
- 20663923
- DOI
- 10.1093/hmg/ddq307
- PMCID
- PMC2947401
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 Γ 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 Γ 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
Association results, presented as the βlog(base 10) of the P-values, for an intronic region of MACROD2 (20p12.1). The panels show the combinations of two diagnostic levels, strict versus spectrum and any versus European ancestry of the subjects. Recombination rates were calculated using Release 22 of the HapMap CEU Panel.
| # | Section | Preview |
|---|---|---|
| 40 | FUNDING | datasets and samples was provided by the Collaborative Study on the Genetics of Alcoholism (COGA;β¦ |
β Prev
41β41 of 41
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Clinical description and epigenetic profiling of a new Danish OCD case-control cohort. | Staunstrup NH et al. | β | 2026 | β |
| Does Altered Membrane Glycosylation Contribute to Neurodevelopmental Dysfunction in Autism Spectrum Disorder? | Osterne VJS et al. | β | 2026 | β |
| Sialylation in the nervous system: Functions and mechanisms. | Koles K et al. | β | 2026 | β |
| Advancing precision diagnosis in autism: Insights from large-scale genomic studies. | Kim SW et al. | β | 2025 | β |
| Chromosome X-wide common variant association study in autism spectrum disorder. | Mendes M et al. | β | 2025 | β |
| Comparing Alzheimer's genes in African, European, and Amerindian induced pluripotent stem cell-derived microglia. | Moura S et al. | β | 2025 | β |
| Digestive Neurobiology in Autism: From Enteric and Central Nervous System Interactions to Shared Genetic Pathways. | Robas R et al. | β | 2025 | β |
| Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder. | Garvin MR et al. | β | 2025 | β |
| Exploring causal associations between plasma metabolites and attention-deficit/hyperactivity disorder. | Shi S et al. | β | 2025 | β |
| Innovative biomarker exploration in ASD: Combining Graph Neural Networks and permutation testing on fMRI data. | Wang D et al. | β | 2025 | β |
| The Importance of N- and O-Glycosylation of Brain Cell Surface Glycoproteins. | Noel M et al. | β | 2025 | β |
| Biological function of sialic acid and sialylation in human health and disease. | Zhu W et al. | β | 2024 | β |
| KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies. | Yang Y et al. | β | 2024 | β |
| Lack of association of the PLD4 SNP rs2841277 with systemic sclerosis in a European American population. | Ma Y et al. | β | 2024 | β |
| Mapping the structure of biomarkers in autism spectrum disorder: a review of the most influential studies. | Jin F et al. | β | 2024 | β |
| Mitochondrial DNA Haplogroup K Is Protective Against Autism Spectrum Disorder Risk in Populations of European Ancestry. | Chang X et al. | β | 2024 | β |
| Molecular profiling of the hippocampus of children with autism spectrum disorder. | Rexrode LE et al. | β | 2024 | β |
| Neurodevelopmental and Neuropsychiatric Disorders. | Traetta ME et al. | β | 2024 | β |
| Site-specific immobilization of the endosialidase reveals QSOX2 is a novel polysialylated protein. | Hunter C et al. | β | 2024 | β |
| The genetic landscape of autism spectrum disorder in the Middle Eastern population. | Al-Sarraj Y et al. | β | 2024 | β |
| The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism. | NΓ³brega IS et al. | β | 2024 | β |
| Therapeutic potential to target sialylation and SIGLECs in neurodegenerative and psychiatric diseases. | WiΓfeld J et al. | β | 2024 | β |
| A human leukocyte antigen imputation study uncovers possible genetic interplay between gut inflammatory processes and autism spectrum disorders. | Lombardi L et al. | β | 2023 | β |
| Analysis of convergence of linkage and association studies in autism spectrum disorders. | Mpoulimari I et al. | β | 2023 | β |
| A pilot study on glutamate receptor and carrier gene variants and risk of childhood autism spectrum. | Liu J et al. | β | 2023 | β |
| Associations of genome-wide structural variations with phenotypic differences in cross-bred Eurasian pigs. | Zong W et al. | β | 2023 | β |
| Comparative genomics of widespread and narrow-range white-bellied rats in the <i>Niviventer niviventer</i> species complex sheds light on invasive rodent success. | Wu XL et al. | β | 2023 | β |
| Correlation of mutated gene and signalling pathways in ASD. | Apte M et al. | β | 2023 | β |
| Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder. | Cucinotta F et al. | β | 2023 | β |
| Genome-wide association study of population-standardised cognitive performance phenotypes in a rural South African community. | Soo CC et al. | β | 2023 | β |
| Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis. | Vilela J et al. | β | 2023 | β |
| Insights into Enhancer RNAs: Biogenesis and Emerging Role in Brain Diseases. | Shen Y et al. | β | 2023 | β |
| Mbnl2 loss alters novel context processing and impairs object recognition memory. | Khandelwal A et al. | β | 2023 | β |
| Neuron-Specific Enolase (NSE) as a Biomarker for Autistic Spectrum Disease (ASD). | Stancioiu F et al. | β | 2023 | β |
| Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly. | Fu C et al. | β | 2023 | β |
| Prenatal ultrasound use and risk of autism spectrum disorder: Findings from the case-control Study to Explore Early Development. | Christensen D et al. | β | 2023 | β |
| Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder. | Kainer D et al. | β | 2023 | β |
| Association analyses of rare variants identify two genes associated with refractive error. | Patasova K et al. | β | 2022 | β |
| Autism spectrum disorder in architecture perspective: a review of the literature and bibliometric assessment of research indexed in Web of Science | Moniem Ali R et al. | β | 2022 | β |
| Compromised mammillary body connectivity and psychotic symptoms in mice with di- and mesencephalic ablation of ST8SIA2. | Küçükerden M et al. | β | 2022 | β |
| FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed? | Girardi ACS et al. | β | 2022 | β |
| Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder. | Doi M et al. | β | 2022 | β |
| Interactome Analysis of Human Phospholipase D and Phosphatidic Acid-Associated Protein Network. | Kattan RE et al. | β | 2022 | β |
| <i>Prkn</i> knockout mice show autistic-like behaviors and aberrant synapse formation. | Huo Y et al. | β | 2022 | β |
| KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design. | Yang Y et al. | β | 2022 | β |
| Link between obsessive-compulsive disorder and polymorphisms in HDAC genes. | Dondu A et al. | β | 2022 | β |
| Multivariate genome-wide association study on tissue-sensitive diffusion metrics highlights pathways that shape the human brain. | Fan CC et al. | β | 2022 | β |
| News and Views on Polysialic Acid: From Tumor Progression and Brain Development to Psychiatric Disorders, Neurodegeneration, Myelin Repair and Immunomodulation. | Thiesler H et al. | β | 2022 | β |
| Region-Specific Alterations of Perineuronal Net Expression in Postmortem Autism Brain Tissue. | Brandenburg C et al. | β | 2022 | β |
| Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach. | Mpoulimari I et al. | β | 2022 | β |
| Systematic Review: Molecular Studies of Common Genetic Variation in Child and Adolescent Psychiatric Disorders. | Akingbuwa WA et al. | β | 2022 | β |
| The association between <i>ST8SIA2</i> gene and behavioral phenotypes in children with autism spectrum disorder. | Yang X et al. | β | 2022 | β |
| The Roles of Par3, Par6, and aPKC Polarity Proteins in Normal Neurodevelopment and in Neurodegenerative and Neuropsychiatric Disorders. | Zhang L et al. | β | 2022 | β |
| Transcriptomic analysis of isolated and pooled human postmortem cerebellar Purkinje cells in autism spectrum disorders. | Brandenburg C et al. | β | 2022 | β |
| 8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder. | Cosemans N et al. | β | 2021 | β |
| Autism spectrum disorder in architecture perspective: a review of the literature and bibliometric assessment of research indexed in Web of Science. | Moniem Ali R et al. | β | 2021 | β |
| Biological implications of genetic variations in autism spectrum disorders from genomics studies. | Zhang Y et al. | β | 2021 | β |
| Comprehensive Integrative Analyses Identify TIGD5 rs75547282 as a Risk Variant for Autism Spectrum Disorder. | Xie X et al. | β | 2021 | β |
| Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families. | Al-Sarraj Y et al. | β | 2021 | β |
| Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies. | Choi L et al. | β | 2021 | β |
| [Genetic risk factors and their influence on neural development in autism spectrum disorders]. | Freitag CM et al. | β | 2021 | β |
| Haploinsufficiency of the Attention-Deficit/Hyperactivity Disorder Risk Gene <i>St3gal3</i> in Mice Causes Alterations in Cognition and Expression of Genes Involved in Myelination and Sialylation. | Rivero O et al. | β | 2021 | β |
| Hippocampal neurons isolated from rats subjected to the valproic acid model mimic in vivo synaptic pattern: evidence of neuronal priming during early development in autism spectrum disorders. | Traetta ME et al. | β | 2021 | β |
| Identifying Subgroups of Patients With Autism by Gene Expression Profiles Using Machine Learning Algorithms. | Lin PI et al. | β | 2021 | β |
| Long-Lasting Changes in Glial Cells Isolated From Rats Subjected to the Valproic Acid Model of Autism Spectrum Disorder. | Traetta ME et al. | β | 2021 | β |
| Molecular Dysregulation in Autism Spectrum Disorder. | Gill PS et al. | β | 2021 | β |
| Mutated <i>VWA8</i> Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish. | Umair M et al. | β | 2021 | β |
| Peripheral Expression of <i>MACROD2</i> Gene Is Reduced Among a Sample of Turkish Children with Autism Spectrum Disorder. | Alnak A et al. | β | 2021 | β |
| Sex-Specific Social Behavior and Amygdala Proteomic Deficits in <i>Foxp2</i> <sup>+/-</sup> Mutant Mice. | Herrero MJ et al. | β | 2021 | β |
| Targeting sialylation to treat central nervous system diseases. | LΓΌnemann JD et al. | β | 2021 | β |
| (ADP-ribosyl)hydrolases: structure, function, and biology. | Rack JGM et al. | β | 2020 | β |
| A logical relationship for schizophrenia, bipolar, and major depressive disorder. Part 1: Evidence from chromosome 1 high density association screen. | Zhang Z et al. | β | 2020 | β |
| Amygdala GluN2B-NMDAR dysfunction is critical in abnormal aggression of neurodevelopmental origin induced by St8sia2 deficiency. | Bacq A et al. | β | 2020 | β |
| A null mutation of <i>C. elegans</i> <i>vwa-8</i>. | Zhu M et al. | β | 2020 | β |
| Are Steroid Hormones Dysregulated in Autistic Girls? | Gasser BA et al. | β | 2020 | β |
| Cell-autonomous impact of polysialic acid-producing enzyme ST8SIA2 on developmental migration and distribution of cortical interneurons. | Schuster UE et al. | β | 2020 | β |
| Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms. | Uechi L et al. | β | 2020 | β |
| Copy number variantsΒ and fixed duplications among 198 rhesus macaques (Macaca mulatta). | BrasΓ³-Vives M et al. | β | 2020 | β |
| Coupling of autism genes to tissue-wide expression and dysfunction of synapse, calcium signalling and transcriptional regulation. | Reilly J et al. | β | 2020 | β |
| Epigenome-wide association study of seizures in childhood and adolescence. | Caramaschi D et al. | β | 2020 | β |
| Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis. | Lee J et al. | β | 2020 | β |
| Genome-wide association study of word reading: Overlap with risk genes for neurodevelopmental disorders. | Price KM et al. | β | 2020 | β |
| GPR56: An adhesion GPCR involved in brain development, neurological disorders and cancer. | Ganesh RA et al. | β | 2020 | β |
| Identification of a molecular basis for the juvenile sleep state. | Chakravarti Dilley L et al. | β | 2020 | β |
| Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample. | Jiao J et al. | β | 2020 | β |
| Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses. | Torrico B et al. | β | 2020 | β |
| Linking Autism Risk Genes to Disruption of Cortical Development. | Garcia-Forn M et al. | β | 2020 | β |
| Mammalian phospholipase D: Function, and therapeutics. | McDermott MI et al. | β | 2020 | β |
| Quantitative genome-wide association analyses of receptive language in the Danish High Risk and Resilience Study. | Nudel R et al. | β | 2020 | β |
| Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder. | Yousaf A et al. | β | 2020 | β |
| Sialylation and Galectin-3 in Microglia-Mediated Neuroinflammation and Neurodegeneration. | PuigdellΓvol M et al. | β | 2020 | β |
| The Controversial Roles of ADP-Ribosyl Hydrolases MACROD1, MACROD2 and TARG1 in Carcinogenesis. | Feijs KLH et al. | β | 2020 | β |
| The role of environmental stress and DNA methylation in the longitudinal course of bipolar disorder. | Comes AL et al. | β | 2020 | β |
| The role of rare compound heterozygous events in autism spectrum disorder. | Lin BD et al. | β | 2020 | β |
| Von Willebrand factor A domain-containing protein 8 (VWA8) localizes to the matrix side of the inner mitochondrial membrane. | Luo M et al. | β | 2020 | β |
| Adhesion G Protein-Coupled Receptors as Drug Targets for Neurological Diseases. | Folts CJ et al. | β | 2019 | β |
| ADP-ribosylation signalling and human disease. | Palazzo L et al. | β | 2019 | β |
| A promoter variant in ZNF804A decreasing its expression increases the risk of autism spectrum disorder in the Han Chinese population. | Zhang L et al. | β | 2019 | β |
| Association of genes with phenotype in autism spectrum disorder. | Nisar S et al. | β | 2019 | β |
| Associations between autistic-like traits and polymorphisms in NFKBIL1. | Strenn N et al. | β | 2019 | β |
| Autism spectrum disorders: autistic phenotypes and complicated mechanisms. | Zhang XC et al. | β | 2019 | β |
| Brain Network Organization Correlates with Autistic Features in Preschoolers with Autism Spectrum Disorders and in Their Fathers: Preliminary Data from a DWI Analysis. | Billeci L et al. | β | 2019 | β |
| Differences in Cognition and Behaviour in Multiplex and Simplex Autism: Does Prior Experience Raising a Child with Autism Matter? | Berends D et al. | β | 2019 | β |
| Effects of the Genetic Depletion of Polysialyltransferases on the Structure and Connectivity of Interneurons in the Adult Prefrontal Cortex. | Curto Y et al. | β | 2019 | β |
| Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies. | Almandil NB et al. | β | 2019 | β |
| Epigenome-wide Analysis Identifies Genes and Pathways Linked to Neurobehavioral Variation in Preterm Infants. | Everson TM et al. | β | 2019 | β |
| Evidence of Assortative Mating in Autism Spectrum Disorder. | Connolly S et al. | β | 2019 | β |
| FunVar: A systematic pipeline to unravel the convergence patterns of genetic variants in ASD, a paradigmatic complex disease. | Asif M et al. | β | 2019 | β |
| Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome. | Codina-Sola M et al. | β | 2019 | β |
| Genetics and epigenetics of autism spectrum disorder-current evidence in the field. | WiΕniowiecka-Kowalnik B et al. | β | 2019 | β |
| GWAS of Behavioral Traits. | Mehta D et al. | β | 2019 | β |
| Identification of common genetic risk variants for autism spectrum disorder. | Grove J et al. | β | 2019 | β |
| Influenza Virus Exploits an Interferon-Independent lncRNA to Preserve Viral RNA Synthesis through Stabilizing Viral RNA Polymerase PB1. | Wang J et al. | β | 2019 | β |
| Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations. | Lombardo B et al. | β | 2019 | β |
| Levels of Salivary Sialic Acid in Children with Autism Spectrum Disorder; Could It Be Related to Stereotypes and Hyperactivity? | Demirci E et al. | β | 2019 | β |
| Metabolome signature of autism in the human prefrontal cortex. | Kurochkin I et al. | β | 2019 | β |
| Neonatal amygdalae and hippocampi are influenced by genotype and prenatal environment, and reflected in the neonatal DNA methylome. | Ong ML et al. | β | 2019 | β |
| Novel Gene-Based Analysis of ASD GWAS: Insight Into the Biological Role of Associated Genes. | Alonso-Gonzalez A et al. | β | 2019 | β |
| Poly(ADP-Ribosylation) in Age-Related Neurological Disease. | McGurk L et al. | β | 2019 | β |
| Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population. | Wang Z et al. | β | 2019 | β |
| Sialic Acids in Neurology. | Sato C et al. | β | 2019 | β |
| 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. | β | 2019 | β |
| Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes | Torrico B et al. | β | 2019 | β |
| Autism throughout genetics: Perusal of the implication of ion channels. | Daghsni M et al. | β | 2018 | β |
| Common functional variants of the glutamatergic system in Autism spectrum disorder with high and low intellectual abilities. | Chiocchetti AG et al. | β | 2018 | β |
| Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls. | Fullerton JM et al. | β | 2018 | β |
| Evidence for Association Between OXTR Gene and ASD Clinical Phenotypes. | de Oliveira Pereira Ribeiro L et al. | β | 2018 | β |
| Fast and Accurate Detection of Complex Imaging Genetics Associations Based on Greedy Projected Distance Correlation. | Fang J et al. | β | 2018 | β |
| FDR-Corrected Sparse Canonical Correlation Analysis With Applications to Imaging Genomics. | Gossmann A et al. | β | 2018 | β |
| Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis. | Velthorst E et al. | β | 2018 | β |
| Genetics of autism spectrum disorder. | Ramaswami G et al. | β | 2018 | β |
| Genome-Wide Analysis Reveals Four Novel Loci for Attention-Deficit Hyperactivity Disorder in Korean Youths. | Kweon K et al. | β | 2018 | β |
| Genome-wide scan for circulating vascular adhesion protein-1 levels: MACROD2 as a potential transcriptional regulator of adipogenesis. | Chang YC et al. | β | 2018 | β |
| Genome-wide scan of depressive symptomatology in two representative cohorts in the United States and the United Kingdom. | Mekli K et al. | β | 2018 | β |
| <i>De novo</i> Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis. | Alonso-Gonzalez A et al. | β | 2018 | β |
| Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder. | Griswold AJ et al. | β | 2018 | β |
| Imaging genetics in autism spectrum disorders: Linking genetics and brain imaging in the pursuit of the underlying neurobiological mechanisms. | Fakhoury M | β | 2018 | β |
| Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways. | Nguyen RL et al. | β | 2018 | β |
| Investigation of Copy Number Variation by arrayCGH in Turkish Children and Adolescents Diagnosed with Autism Spectrum Disorders. | GΓΆrker I et al. | β | 2018 | β |
| Mental disorders and an acidic glycan-from the perspective of polysialic acid (PSA/polySia) and the synthesizing enzyme, ST8SIA2. | Sato C et al. | β | 2018 | β |
| Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults. | Lo Re O et al. | β | 2018 | β |
| Progress in the genetics of autism spectrum disorder. | Woodbury-Smith M et al. | β | 2018 | β |
| The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations. | Muglia P et al. | β | 2018 | β |
| The spatial and developmental expression of mouse Vwa8 (von Willebrand domain-containing protein 8). | Grewe BS et al. | β | 2018 | β |
| Transcriptional network analysis on brains reveals a potential regulatory role of PPP1R3F in autism spectrum disorders. | Doostparast Torshizi A et al. | β | 2018 | β |
| A genetic association study of CSMD1 and CSMD2 with cognitive function. | Athanasiu L et al. | β | 2017 | β |
| A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3. | Connolly S et al. | β | 2017 | β |
| A Powerful Gene-Based Test Accommodating Common and Low-Frequency Variants to Detect Both Main Effects and Gene-Gene Interaction Effects in Case-Control Studies. | Chung RH et al. | β | 2017 | β |
| ATM induces MacroD2 nuclear export upon DNA damage. | Golia B et al. | β | 2017 | β |
| Autism genetics - an overview. | Yin J et al. | β | 2017 | β |
| Axon guidance pathways served as common targets for human speech/language evolution and related disorders. | Lei H et al. | β | 2017 | β |
| Bio-collections in autism research. | Reilly J et al. | β | 2017 | β |
| Characterization of the novel protein KIAA0564 (Von Willebrand Domain-containing Protein 8). | Luo M et al. | β | 2017 | β |
| Close genetic relationships between a spousal pair with autism-affected children and high minor allele content in cases in autism-associated SNPs. | Zhu Z et al. | β | 2017 | β |
| Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure. | Conceição IC et al. | β | 2017 | β |
| Gene-set analysis shows association between FMRP targets and autism spectrum disorder. | Jansen A et al. | β | 2017 | β |
| Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder. | Garcia-MartΓnez I et al. | β | 2017 | β |
| Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. | Guo H et al. | β | 2017 | β |
| High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. | Chen CH et al. | β | 2017 | β |
| High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder. | Schmunk G et al. | β | 2017 | β |
| Imaging genetics in neurodevelopmental psychopathology. | Klein M et al. | β | 2017 | β |
| Lack of replication of previous autism spectrum disorder GWAS hits in European populations. | Torrico B et al. | β | 2017 | β |
| Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism. | Chen R et al. | β | 2017 | β |
| Long noncoding RNA and its contribution to autism spectrum disorders. | Tang J et al. | β | 2017 | β |
| 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. | Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium | β | 2017 | β |
| Modeling of Autism Using Organoid Technology. | Choi H et al. | β | 2017 | β |
| NCAM Regulates Inhibition and Excitability in Layer 2/3 Pyramidal Cells of Anterior Cingulate Cortex. | Zhang X et al. | β | 2017 | β |
| Pharmaceuticals and Stem Cells in Autism Spectrum Disorders: Wishful Thinking? | Sivanesan S et al. | β | 2017 | β |
| Pharmacogenomics of autism spectrum disorder. | Brown JT et al. | β | 2017 | β |
| Polymorphism in the Promoter Region of <i>SEMA5A</i> Is Associated with Sociality Traits in Korean Subjects with Autism Spectrum Disorders. | Kim SA et al. | β | 2017 | β |
| Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders. | Mitra I et al. | β | 2017 | β |
| Social Isolation Alters Social and Mating Behavior in the R451C Neuroligin Mouse Model of Autism. | Burrows EL et al. | β | 2017 | β |
| Translating genetic and preclinical findings into autism therapies. | Chahrour M et al. | β | 2017 | β |
| Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population. | Vojinovic D et al. | β | 2017 | β |
| Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder. | Polimanti R et al. | β | 2017 | β |
| An efficient gene-gene interaction test for genome-wide association studies in trio families. | Sung PY et al. | β | 2016 | β |
| Association and gene-gene interactions study of reelin signaling pathway related genes with autism in the Han Chinese population. | Shen Y et al. | β | 2016 | β |
| Association between IRS1 Gene Polymorphism and Autism Spectrum Disorder: A Pilot Case-Control Study in Korean Males. | Park HJ et al. | β | 2016 | β |
| A systematic variant annotation approach for ranking genes associated with autism spectrum disorders. | Larsen E et al. | β | 2016 | β |
| Brain enhancer activities at the gene-poor 5p14.1 autism-associated locus. | Inoue YU et al. | β | 2016 | β |
| CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches. | Werling AM et al. | β | 2016 | β |
| CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder. | Barone R et al. | β | 2016 | β |
| Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common Disease. | Peyrot WJ et al. | β | 2016 | β |
| Dopaminergic variants in siblings at high risk for autism: Associations with initiating joint attention. | Gangi DN et al. | β | 2016 | β |
| Effects of intronic single nucleotide polymorphisms (iSNPs) of a polysialyltransferase, ST8SIA2 gene found in psychiatric disorders on its gene products. | Hane M et al. | β | 2016 | β |
| Endosomal system genetics and autism spectrum disorders: A literature review. | Patak J et al. | β | 2016 | β |
| Enrichment of risk SNPs in regulatory regions implicate diverse tissues in Parkinson's disease etiology. | Coetzee SG et al. | β | 2016 | β |
| Epilepsy and Autism. | Buckley AW et al. | β | 2016 | β |
| Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders. | Tao Y et al. | β | 2016 | β |
| GCORE-sib: An efficient gene-gene interaction tool for genome-wide association studies based on discordant sib pairs. | Sung PY et al. | β | 2016 | β |
| Genetic heterogeneity in autism: From single gene to a pathway perspective. | An JY et al. | β | 2016 | β |
| Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations. | Liu X et al. | β | 2016 | β |
| Glycan susceptibility factors in autism spectrum disorders. | Dwyer CA et al. | β | 2016 | β |
| If genetic variation could talk: What genomic data may teach us about the importance of gene expression regulation in the genetics of autism. | Yeh E et al. | β | 2016 | β |
| In Sickness and in Health: Perineuronal Nets and Synaptic Plasticity in Psychiatric Disorders. | Pantazopoulos H et al. | β | 2016 | β |
| Nuclear Localization of the Autism Candidate Gene Neurobeachin and Functional Interaction with the NOTCH1 Intracellular Domain Indicate a Role in Regulating Transcription. | Tuand K et al. | β | 2016 | β |
| Pleiotropic Mechanisms Indicated for Sex Differences in Autism. | Mitra I et al. | β | 2016 | β |
| Potential serum biomarkers from a metabolomics study of autism. | Wang H et al. | β | 2016 | β |
| Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature. | Hemming IA et al. | β | 2016 | β |
| Relationship between ST8SIA2, polysialic acid and its binding molecules, and psychiatric disorders. | Sato C et al. | β | 2016 | β |
| Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies. | Gokoolparsadh A et al. | β | 2016 | β |
| The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder. | Ziats MN et al. | β | 2016 | β |
| Alterations in sociability and functional brain connectivity caused by early-life seizures are prevented by bumetanide. | Holmes GL et al. | β | 2015 | β |
| A multi-SNP association test for complex diseases incorporating an optimal P-value threshold algorithm in nuclear families. | Wang YT et al. | β | 2015 | β |
| A neuroligin-3 mutation implicated in autism causes abnormal aggression and increases repetitive behavior in mice. | Burrows EL et al. | β | 2015 | β |
| A population study of binocular function. | Bosten JM et al. | β | 2015 | β |
| Association between ST8SIA2 and the Risk of Schizophrenia and Bipolar I Disorder across Diagnostic Boundaries. | Yang SY et al. | β | 2015 | β |
| Autism Spectrum Disorder - A Complex Genetic Disorder. | Ivanov HY et al. | β | 2015 | β |
| Autism spectrum disorders: from genes to neurobiology. | Willsey AJ et al. | β | 2015 | β |
| Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. | Lal D et al. | β | 2015 | β |
| Coexpression networks identify brain region-specific enhancer RNAs in the human brain. | Yao P et al. | β | 2015 | β |
| Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation. | Yu W et al. | β | 2015 | β |
| Differential Local Connectivity and Neuroinflammation Profiles in the Medial Prefrontal Cortex and Hippocampus in the Valproic Acid Rat Model of Autism. | Codagnone MG et al. | β | 2015 | β |
| Epigenetics, a key for unlocking complex CNS disorders? Therapeutic implications. | Szyf M | β | 2015 | β |
| From de novo mutations to personalized therapeutic interventions in autism. | Brandler WM et al. | β | 2015 | β |
| Gene hunting in autism spectrum disorder: on the path to precision medicine. | Geschwind DH et al. | β | 2015 | β |
| Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders. | Kim YS et al. | β | 2015 | β |
| Genetics and genomics of autism spectrum disorder: embracing complexity. | De Rubeis S et al. | β | 2015 | β |
| Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications. | Yoo H | β | 2015 | β |
| Genome-wide association studies in Africans and African Americans: expanding the framework of the genomics of human traits and disease. | Peprah E et al. | β | 2015 | β |
| Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population. | Kuo PH et al. | β | 2015 | β |
| High-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders. | Butler MG et al. | β | 2015 | β |
| Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR. | Oguro-Ando A et al. | β | 2015 | β |
| Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. | Codina-SolΓ M et al. | β | 2015 | β |
| Investigation of sex differences in the expression of RORA and its transcriptional targets in the brain as a potential contributor to the sex bias in autism. | Hu VW et al. | β | 2015 | β |
| Mechanism of enzymatic reaction and protein-protein interactions of PLD from a 3D structural model. | Mahankali M et al. | β | 2015 | β |
| No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. | Murdoch JD et al. | β | 2015 | β |
| Physiological and pathophysiological roles for phospholipase D. | Nelson RK et al. | β | 2015 | β |
| Polysialic Acid in Brain Development and Synaptic Plasticity. | Hildebrandt H et al. | β | 2015 | β |
| Protective effects of polysialic acid on proteolytic cleavage of FGF2 and proBDNF/BDNF. | Hane M et al. | β | 2015 | β |
| Recent advances in the genetics of autism spectrum disorder. | De Rubeis S et al. | β | 2015 | β |
| Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins. | Werling DM et al. | β | 2015 | β |
| RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | Xiong HY et al. | β | 2015 | β |
| Schizophrenia-like phenotype of polysialyltransferase ST8SIA2-deficient mice. | KrΓΆcher T et al. | β | 2015 | β |
| Shared Pathways Among Autism Candidate Genes Determined by Co-expression Network Analysis of the Developing Human Brain Transcriptome. | Mahfouz A et al. | β | 2015 | β |
| Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8. | Lowe JK et al. | β | 2015 | β |
| State-Dependent Differences in Functional Connectivity in Young Children With Autism Spectrum Disorder. | Buckley AW et al. | β | 2015 | β |
| Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants. | Griswold AJ et al. | β | 2015 | β |
| The emerging picture of autism spectrum disorder: genetics and pathology. | Chen JA et al. | β | 2015 | β |
| The first Malay database toward the ethnic-specific target molecular variation. | Halim-Fikri H et al. | β | 2015 | β |
| The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants. | Saffen D | β | 2015 | β |
| The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis. | LoParo D et al. | β | 2015 | β |
| The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. | Merikangas AK et al. | β | 2015 | β |
| The phospholipase D superfamily as therapeutic targets. | Frohman MA | β | 2015 | β |
| A CTNNA3 compound heterozygous deletion implicates a role for Ξ±T-catenin in susceptibility to autism spectrum disorder. | Bacchelli E et al. | β | 2014 | β |
| A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. | Ceroni F et al. | β | 2014 | β |
| Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. | Shen J et al. | β | 2014 | β |
| A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism. | Wittkowski KM et al. | β | 2014 | β |
| A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism. | Carayol J et al. | β | 2014 | β |
| Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards. | Damiano CR et al. | β | 2014 | β |
| Associations between oxytocin-related genes and autistic-like traits. | Hovey D et al. | β | 2014 | β |
| Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10. | Jonsson L et al. | β | 2014 | β |
| Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism. | Nyffeler J et al. | β | 2014 | β |
| Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. | Talkowski ME et al. | β | 2014 | β |
| Characterisation of genetic variation in ST8SIA2 and its interaction region in NCAM1 in patients with bipolar disorder. | Shaw AD et al. | β | 2014 | β |
| Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy. | Kamien B et al. | β | 2014 | β |
| Chromatin regulators, phenotypic robustness, and autism risk. | Suliman R et al. | β | 2014 | β |
| Common EIF4E variants modulate risk for autism spectrum disorders in the high-functioning range. | Waltes R et al. | β | 2014 | β |
| Common genetic variants on 1p13.2 associate with risk of autism. | Xia K et al. | β | 2014 | β |
| Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders. | Waltes R et al. | β | 2014 | β |
| Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D et al. | β | 2014 | β |
| Copy-number variation in the pathogenesis of autism spectrum disorder. | Shishido E et al. | β | 2014 | β |
| EphrinA/EphA-induced ectodomain shedding of neural cell adhesion molecule regulates growth cone repulsion through ADAM10 metalloprotease. | Brennaman LH et al. | β | 2014 | β |
| Epigenetics meets genetics in acute myeloid leukemia: clinical impact of a novel seven-gene score. | Marcucci G et al. | β | 2014 | β |
| Epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link? | Lo-Castro A et al. | β | 2014 | β |
| Etiology of autism spectrum disorder: a genomics perspective. | Connolly JJ et al. | β | 2014 | β |
| Evolutionary conservation in genes underlying human psychiatric disorders. | Ogawa LM et al. | β | 2014 | β |
| Family-based association study of common variants, rare mutation study and epistatic interaction detection in HDAC genes in schizophrenia. | Kebir O et al. | β | 2014 | β |
| Family-based clinical associations and functional characterization of the serotonin 2A receptor gene (HTR2A) in autism spectrum disorder. | Smith RM et al. | β | 2014 | β |
| Genetically meaningful phenotypic subgroups in autism spectrum disorders. | Veatch OJ et al. | β | 2014 | β |
| Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era. | Jiang YH et al. | β | 2014 | β |
| Genomic and genetic aspects of autism spectrum disorder. | Liu X et al. | β | 2014 | β |
| Genomics in neurological disorders. | Han G et al. | β | 2014 | β |
| Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. | Egger G et al. | β | 2014 | β |
| Investigation of maternal genotype effects in autism by genome-wide association. | Yuan H et al. | β | 2014 | β |
| MACROD2 gene associated with autistic-like traits in a general population sample. | Jones RM et al. | β | 2014 | β |
| Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system. | Cristino AS et al. | β | 2014 | β |
| Nonhuman primate models of neuropsychiatric disorders: influences of early rearing, genetics, and epigenetics. | Dettmer AM et al. | β | 2014 | β |
| Obesity in children with autism spectrum disorder. | Curtin C et al. | β | 2014 | β |
| Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis. | Namjou B et al. | β | 2014 | β |
| Polysialic acid: biosynthesis, novel functions and applications. | Colley KJ et al. | β | 2014 | β |
| Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. | Corominas R et al. | β | 2014 | β |
| Protein interaction networks reveal novel autism risk genes within GWAS statistical noise. | Correia C et al. | β | 2014 | β |
| Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. | Correia CT et al. | β | 2014 | β |
| Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. | Werling DM et al. | β | 2014 | β |
| Research review: Polygenic methods and their application to psychiatric traits. | Wray NR et al. | β | 2014 | β |
| Serotonin dynamics in and around the central nervous system: is autism solvable without fundamental insights? | JanuΕ‘onis S | β | 2014 | β |
| Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration. | Schnaar RL et al. | β | 2014 | β |
| St8sia2 deficiency plus juvenile cannabis exposure in mice synergistically affect higher cognition in adulthood. | Tantra M et al. | β | 2014 | β |
| The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. | Buxbaum JD et al. | β | 2014 | β |
| The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism. | Hadley D et al. | β | 2014 | β |
| The role of de novo mutations in the genetics of autism spectrum disorders. | Ronemus M et al. | β | 2014 | β |
| The role of Ξ²3 integrin gene variants in Autism Spectrum Disorders--diagnosis and symptomatology. | Schuch JB et al. | β | 2014 | β |
| The single nucleotide polymorphism rs2208454 confers an increased risk for ischemic stroke: a case-control study. | Luo M et al. | β | 2014 | β |
| Uncovering the etiology of autism spectrum disorders: genomics, bioinformatics, environment, data collection and exploration, and future possibilities. | Pendergrass S et al. | β | 2014 | β |
| Zinc finger protein 804A (ZNF804A) and verbal deficits in individuals with autism. | Anitha A et al. | β | 2014 | β |
| A genome-wide survey of transgenerational genetic effects in autism. | Tsang KM et al. | β | 2013 | β |
| AKAPs integrate genetic findings for autism spectrum disorders. | Poelmans G et al. | β | 2013 | β |
| Alterations in sensitivity to estrogen, dihydrotestosterone, and xenogens in B-lymphocytes from children with autism spectrum disorder and their unaffected twins/siblings. | Sharpe MA et al. | β | 2013 | β |
| An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk. | Cheng Y et al. | β | 2013 | β |
| Association between common alcohol dehydrogenase gene (ADH) variants and schizophrenia and autism. | Zuo L et al. | β | 2013 | β |
| Attentional switching forms a genetic link between attention problems and autistic traits in adults. | Polderman TJ et al. | β | 2013 | β |
| Autism and EMF? Plausibility of a pathophysiological link - Part I. | Herbert MR et al. | β | 2013 | β |
| Autism and EMF? Plausibility of a pathophysiological link part II. | Herbert MR et al. | β | 2013 | β |
| Autism as early neurodevelopmental disorder: evidence for an sAPPΞ±-mediated anabolic pathway. | Lahiri DK et al. | β | 2013 | β |
| Autism genes keep turning up chromatin. | Lasalle JM | β | 2013 | β |
| Autism genetics. | Persico AM et al. | β | 2013 | β |
| Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses. | Won H et al. | β | 2013 | β |
| Can bronchoscopic airway anatomy be an indicator of autism? | Stewart BA et al. | β | 2013 | β |
| Co-expression profiling of autism genes in the mouse brain. | Menashe I et al. | β | 2013 | β |
| Common variation contributes to the genetic architecture of social communication traits. | St Pourcain B et al. | β | 2013 | β |
| Dances with black widow spiders: dysregulation of glutamate signalling enters centre stage in ADHD. | Lesch KP et al. | β | 2013 | β |
| Disialic, oligosialic and polysialic acids: distribution, functions and related disease. | Sato C et al. | β | 2013 | β |
| Epigenomic strategies at the interface of genetic and environmental risk factors for autism. | LaSalle JM | β | 2013 | β |
| Epilepsy, autism, and neurodevelopment: kindling a shared vulnerability? | Gilby KL et al. | β | 2013 | β |
| Evaluating mitochondrial DNA variation in autism spectrum disorders. | Hadjixenofontos A et al. | β | 2013 | β |
| Evaluating rare variants in complex disorders using next-generation sequencing. | Ezewudo M et al. | β | 2013 | β |
| Genome-wide association study of autistic-like traits in a general population study of young adults. | Jones RM et al. | β | 2013 | β |
| Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity. | Jahanshad N et al. | β | 2013 | β |
| Global increases in both common and rare copy number load associated with autism. | Girirajan S et al. | β | 2013 | β |
| Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. | Vardarajan BN et al. | β | 2013 | β |
| Head circumferences in twins with and without Autism Spectrum Disorders. | Froehlich W et al. | β | 2013 | β |
| Impact of structural aberrancy of polysialic acid and its synthetic enzyme ST8SIA2 in schizophrenia. | Sato C et al. | β | 2013 | β |
| Influence of stimulant-induced hyperactivity on social approach in the BTBR mouse model of autism. | Silverman JL et al. | β | 2013 | β |
| Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. | He X et al. | β | 2013 | β |
| Is 'bench-to-bedside' realistic for autism? An integrative neuroscience approach. | Bauman MD et al. | β | 2013 | β |
| Next-generation sequencing in understanding complex neurological disease. | Handel AE et al. | β | 2013 | β |
| No evidence that common genetic risk variation is shared between schizophrenia and autism. | Vorstman JA et al. | β | 2013 | β |
| Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. | Kong SW et al. | β | 2013 | β |
| Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity. | Nuytens K et al. | β | 2013 | β |
| Polysialic acid: versatile modification of NCAM, SynCAM 1 and neuropilin-2. | MΓΌhlenhoff M et al. | β | 2013 | β |
| Polysialylated NCAM and ephrinA/EphA regulate synaptic development of GABAergic interneurons in prefrontal cortex. | Brennaman LH et al. | β | 2013 | β |
| Prioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database. | Menashe I et al. | β | 2013 | β |
| Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology. | McCarroll SA et al. | β | 2013 | β |
| Protocadherin Ξ± (PCDHA) as a novel susceptibility gene for autism. | Anitha A et al. | β | 2013 | β |
| Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome. | Campbell NG et al. | β | 2013 | β |
| Recent developments in the genetics of autism spectrum disorders. | Murdoch JD et al. | β | 2013 | β |
| Research resource: identification of novel coregulators specific for thyroid hormone receptor-Ξ²2. | Hahm JB et al. | β | 2013 | β |
| Runs of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model. | Lin PI et al. | β | 2013 | β |
| Sex-specific association of a common variant of the XG gene with autism spectrum disorders. | Chang SC et al. | β | 2013 | β |
| The evidence for association of ATP2B2 polymorphisms with autism in Chinese Han population. | Yang W et al. | β | 2013 | β |
| The expanding genomic landscape of autism: discovering the 'forest' beyond the 'trees' | Hu VW | β | 2013 | β |
| Transcriptome study of differential expression in schizophrenia. | Sanders AR et al. | β | 2013 | β |
| Weight loss after gastric bypass is associated with a variant at 15q26.1. | Hatoum IJ et al. | β | 2013 | β |
| Whole-genome sequencing in an autism multiplex family. | Shi L et al. | β | 2013 | β |
| ADHD and autism: differential diagnosis or overlapping traits? A selective review. | Taurines R et al. | β | 2012 | β |
| Altered balance of proteolytic isoforms of pro-brain-derived neurotrophic factor in autism. | Garcia KL et al. | β | 2012 | β |
| A noncoding RNA antisense to moesin at 5p14.1 in autism. | Kerin T et al. | β | 2012 | β |
| Autism-associated promoter variant in MET impacts functional and structural brain networks. | Rudie JD et al. | β | 2012 | β |
| Autism genetics: searching for specificity and convergence. | Berg JM et al. | β | 2012 | β |
| Autism risk factors: genes, environment, and gene-environment interactions. | Chaste P et al. | β | 2012 | β |
| Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. | Kong SW et al. | β | 2012 | β |
| Common genetic variants, acting additively, are a major source of risk for autism. | Klei L et al. | β | 2012 | β |
| Copy number variation in subjects with major depressive disorder who attempted suicide. | Perlis RH et al. | β | 2012 | β |
| Developmental regulation of expression of schizophrenia susceptibility genes in the primate hippocampal formation. | Favre G et al. | β | 2012 | β |
| Discovery and Replication of Gene Influences on Brain Structure Using LASSO Regression. | Kohannim O et al. | β | 2012 | β |
| Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism. | Lesca G et al. | β | 2012 | β |
| Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. | Griswold AJ et al. | β | 2012 | β |
| Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder. | Mondal K et al. | β | 2012 | β |
| Gene expression studies in autism: moving from the genome to the transcriptome and beyond. | Voineagu I | β | 2012 | β |
| Genetic architecture in autism spectrum disorder. | Devlin B et al. | β | 2012 | β |
| Genetic architectures of psychiatric disorders: the emerging picture and its implications. | Sullivan PF et al. | β | 2012 | β |
| Genetic, morphometric, and behavioral factors linked to the midsagittal area of the corpus callosum. | Newbury AJ et al. | β | 2012 | β |
| Genome-wide association study of comorbid depressive syndrome and alcohol dependence. | Edwards AC et al. | β | 2012 | β |
| Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies. | Delahaye A et al. | β | 2012 | β |
| Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2. | Van der Aa N et al. | β | 2012 | β |
| Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder. | Steinberg KM et al. | β | 2012 | β |
| Identification of sialyltransferase 8B as a generalized susceptibility gene for psychotic and mood disorders on chromosome 15q25-26. | McAuley EZ et al. | β | 2012 | β |
| Immune system gene dysregulation in autism and schizophrenia. | Michel M et al. | β | 2012 | β |
| Individual common variants exert weak effects on the risk for autism spectrum disorders. | Anney R et al. | β | 2012 | β |
| Infant siblings and the investigation of autism risk factors. | Newschaffer CJ et al. | β | 2012 | β |
| Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci. | Davis LK et al. | β | 2012 | β |
| MicroRNAs: a light into the "black box" of neuropediatric diseases? | Omran A et al. | β | 2012 | β |
| Networks of neuronal genes affected by common and rare variants in autism spectrum disorders. | Ben-David E et al. | β | 2012 | β |
| Neural cell adhesion molecule, NCAM, regulates thalamocortical axon pathfinding and the organization of the cortical somatosensory representation in mouse. | Enriquez-Barreto L et al. | β | 2012 | β |
| Personalized medicine: caught between hope, hype and the real world. | Dammann M et al. | β | 2012 | β |
| The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. | Prandini P et al. | β | 2012 | β |
| The cognitive genetics of neuropsychiatric disorders. | Corvin A et al. | β | 2012 | β |
| The hunt for gene effects pertinent to behavioral traits and psychiatric disorders: from mouse to human. | Wahlsten D | β | 2012 | β |
| The WNT2 gene polymorphism associated with speech delay inherent to autism. | Lin PI et al. | β | 2012 | β |
| 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders. | Liu X et al. | β | 2011 | β |
| Advances in clinical neuroimaging: implications for autism spectrum disorders. | Barnea-Goraly N et al. | β | 2011 | β |
| A genotype resource for postmortem brain samples from the Autism Tissue Program. | Wintle RF et al. | β | 2011 | β |
| Altered structural brain connectivity in healthy carriers of the autism risk gene, CNTNAP2. | Dennis EL et al. | β | 2011 | β |
| Analysis of copy number variants in the cattle genome. | Kijas JW et al. | β | 2011 | β |
| An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. | Chung RH et al. | β | 2011 | β |
| A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders. | Kim SJ et al. | β | 2011 | β |
| Are retinoids potential therapeutic agents in disorders of social cognition including autism? | Ebstein RP et al. | β | 2011 | β |
| Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder. | Campbell DB et al. | β | 2011 | β |
| Autism risk assessment in siblings of affected children using sex-specific genetic scores. | Carayol J et al. | β | 2011 | β |
| Autism spectrum disorders and autistic traits: a decade of new twin studies. | Ronald A et al. | β | 2011 | β |
| Autistic traits below the clinical threshold: re-examining the broader autism phenotype in the 21st century. | Sucksmith E et al. | β | 2011 | β |
| CAPL: an efficient association software package using family and case-control data and accounting for population stratification. | Chung RH et al. | β | 2011 | β |
| Converging evidence for an association of ATP2B2 allelic variants with autism in male subjects. | Carayol J et al. | β | 2011 | β |
| DNA methylation, the early-life social environment and behavioral disorders. | Szyf M | β | 2011 | β |
| Do common variants play a role in risk for autism? Evidence and theoretical musings. | Devlin B et al. | β | 2011 | β |
| Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. | Horev G et al. | β | 2011 | β |
| Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways. | Ziats MN et al. | β | 2011 | β |
| Following the genes: a framework for animal modeling of psychiatric disorders. | Mitchell KJ et al. | β | 2011 | β |
| Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism. | Tansey KE et al. | β | 2011 | β |
| Gene and miRNA expression profiles in autism spectrum disorders. | Ghahramani Seno MM et al. | β | 2011 | β |
| Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. | Anney RJ et al. | β | 2011 | β |
| Genetic basis of autism: is there a way forward? | Eapen V | β | 2011 | β |
| Genetic risk in autism: new associations and clinical testing. | Freitag CM | β | 2011 | β |
| [Genetics and animal modeling of autism spectrum disorders. New developments]. | Klauck SM et al. | β | 2011 | β |
| Genetics of autism spectrum disorders. | Geschwind DH | β | 2011 | β |
| Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. | Chapman NH et al. | β | 2011 | β |
| Identification of autoimmune gene signatures in autism. | Jung JY et al. | β | 2011 | β |
| In search of biomarkers for autism: scientific, social and ethical challenges. | Walsh P et al. | β | 2011 | β |
| Large-scale methylation domains mark a functional subset of neuronally expressed genes. | Schroeder DI et al. | β | 2011 | β |
| Links between genetics and pathophysiology in the autism spectrum disorders. | Holt R et al. | β | 2011 | β |
| Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. | Sanders SJ et al. | β | 2011 | β |
| No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. | Curran S et al. | β | 2011 | β |
| Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data. | Hu VW et al. | β | 2011 | β |
| Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism. | Vieland VJ et al. | β | 2011 | β |
| Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. | Lionel AC et al. | β | 2011 | β |
| Risk factors for autism: translating genomic discoveries into diagnostics. | Scherer SW et al. | β | 2011 | β |
| RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders. | Lin M et al. | β | 2011 | β |
| The chromatin-binding protein HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) and affects the behavior of mice. | Abuhatzira L et al. | β | 2011 | β |
| The conundrums of understanding genetic risks for autism spectrum disorders. | State MW et al. | β | 2011 | β |
| The mitochondrial aspartate/glutamate carrier AGC1 and calcium homeostasis: physiological links and abnormalities in autism. | Napolioni V et al. | β | 2011 | β |
| The neurochemical basis for the treatment of autism spectrum disorders and Fragile X Syndrome. | Hampson DR et al. | β | 2011 | β |
| The NeuroDevNet Autism Spectrum Disorders Demonstration Project. | Zwaigenbaum L et al. | β | 2011 | β |
| The ongoing dissection of the genetic architecture of autistic spectrum disorder. | Gillis RF et al. | β | 2011 | β |
| The role of GABAergic system in neurodevelopmental disorders: a focus on autism and epilepsy. | SgadΓ² P et al. | β | 2011 | β |
| Allelic diversity in human developmental neurogenetics: insights into biology and disease. | Walsh CA et al. | β | 2010 | β |
| The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. | State MW | β | 2010 | β |