scholarly article | Q13442814 |
review article | Q7318358 |
P50 | author | Alicia Guemez-gamboa | Q42868188 |
P2093 | author name string | Lauren Rylaarsdam | |
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Autism or atypical autism in maternally but not paternally derived proximal 15q duplication | Q24680506 | ||
The Interaction between the Immune System and Epigenetics in the Etiology of Autism Spectrum Disorders | Q26741427 | ||
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Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression | Q27322815 | ||
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Identification of MeCP2 mutations in a series of females with autistic disorder | Q28207072 | ||
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Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits | Q28246677 | ||
Synaptic, transcriptional and chromatin genes disrupted in autism | Q28250800 | ||
The contribution of de novo coding mutations to autism spectrum disorder | Q28250812 | ||
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation | Q28263098 | ||
Association between microdeletion and microduplication at 16p11.2 and autism | Q28264205 | ||
A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium | Q28267928 | ||
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? | Q28283600 | ||
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A | Q28284040 | ||
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs | Q28296286 | ||
Autism as a strongly genetic disorder: evidence from a British twin study | Q28303915 | ||
Somatic mutation, genomic variation, and neurological disease | Q28395313 | ||
MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number | Q28507266 | ||
The ubiquitin receptor S5a/Rpn10 links centrosomal proteasomes with dendrite development in the mammalian brain | Q28582455 | ||
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations | Q29030218 | ||
CNVs conferring risk of autism or schizophrenia affect cognition in controls | Q29308426 | ||
What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis. | Q30234357 | ||
Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2. | Q30363063 | ||
Prenatal exposure to valproic acid increases the neural progenitor cell pool and induces macrocephaly in rat brain via a mechanism involving the GSK-3β/β-catenin pathway. | Q48425645 | ||
Autism and maternally derived aberrations of chromosome 15q. | Q50302069 | ||
Induction of the homeotic gene Hoxa1 through valproic acid's teratogenic mechanism of action. | Q50302785 | ||
MeCP2 Modulates Sex Differences in the Postsynaptic Development of the Valproate Animal Model of Autism. | Q50303105 | ||
A case of partial trisomy of chromosome 8p associated with autism. | Q50304192 | ||
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH. | Q50304592 | ||
Autism in Angelman syndrome: implications for autism research. | Q50307340 | ||
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. | Q50310098 | ||
A family with a grand-maternally derived interstitial duplication of proximal 15q. | Q50310124 | ||
Autistic traits in a population-based ADHD twin sample. | Q50313642 | ||
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13. | Q50313902 | ||
Fetal DNA methylation of autism spectrum disorders candidate genes: association with spontaneous preterm birth. | Q50313960 | ||
Chromosome abnormalities in infantile autism and other childhood psychoses: a population study of 66 cases. | Q50343589 | ||
Sex Differences in Autism Spectrum Disorder: a Review. | Q50418434 | ||
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17. | Q51909007 | ||
The Contribution of Mosaic Variants to Autism Spectrum Disorder | Q36134616 | ||
Phenotypic heterogeneity of genomic disorders and rare copy-number variants | Q36387744 | ||
Analysis of LINE-1 Elements in DNA from Postmortem Brains of Individuals with Schizophrenia. | Q36393789 | ||
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. | Q36473412 | ||
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder | Q36499988 | ||
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2. | Q36543046 | ||
Sex Biased Gene Expression Profiling of Human Brains at Major Developmental Stages | Q36583379 | ||
Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders | Q36605091 | ||
Complex epigenetic regulation of engrailed-2 (EN-2) homeobox gene in the autism cerebellum | Q36664711 | ||
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles | Q36718902 | ||
Sex-biased gene expression in the developing brain: implications for autism spectrum disorders | Q36843354 | ||
Distinct Defects in Synaptic Differentiation of Neocortical Neurons in Response to Prenatal Valproate Exposure. | Q36970472 | ||
MECP2 promoter methylation and X chromosome inactivation in autism | Q37039904 | ||
Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome | Q37438521 | ||
Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits | Q37529899 | ||
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? | Q37687569 | ||
Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses | Q37708248 | ||
GeneAnalytics Pathway Analysis and Genetic Overlap among Autism Spectrum Disorder, Bipolar Disorder and Schizophrenia. | Q37729086 | ||
Environmental factors influencing the risk of autism | Q37735288 | ||
Clinical and genetic aspects of Angelman syndrome | Q37743131 | ||
Detection and characterization of copy number variation in autism spectrum disorder | Q37974093 | ||
The role of de novo mutations in the genetics of autism spectrum disorders | Q38178892 | ||
MeCP2: multifaceted roles in gene regulation and neural development | Q38235909 | ||
Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins | Q38252584 | ||
Partial tetrasomy of chromosome 3q and mosaicism in a child with autism | Q38483910 | ||
Microglia in the pathogenesis of autism spectrum disorders | Q38538967 | ||
Immune mediators in the brain and peripheral tissues in autism spectrum disorder | Q38550206 | ||
Dendritic spine anomalies and PTEN alterations in a mouse model of VPA-induced autism spectrum disorder. | Q38617088 | ||
Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes. | Q38788916 | ||
Shared genetic influences between dimensional ASD and ADHD symptoms during child and adolescent development. | Q38845234 | ||
A Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density | Q38914044 | ||
Epigenetic regulation of RELN and GAD1 in the frontal cortex (FC) of autism spectrum disorder (ASD) subjects | Q38946762 | ||
Convergence of Sex Differences and the Neuroimmune System in Autism Spectrum Disorder | Q39015827 | ||
Genome sequencing identifies major causes of severe intellectual disability | Q34422838 | ||
Characteristics of fetal anticonvulsant syndrome associated autistic disorder. | Q34444066 | ||
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders | Q34502182 | ||
Testosterone administration impairs cognitive empathy in women depending on second-to-fourth digit ratio | Q34602802 | ||
Sex-specific serum biomarker patterns in adults with Asperger's syndrome. | Q34623897 | ||
Recurrent 16p11.2 microdeletions in autism | Q34729775 | ||
Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb | Q34762174 | ||
Autism: in search of susceptibility genes | Q34851994 | ||
Investigation of modifier genes within copy number variations in Rett syndrome | Q35132379 | ||
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex | Q35163442 | ||
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism | Q35345720 | ||
Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism | Q35441214 | ||
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 | Q35694641 | ||
Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism | Q35880410 | ||
Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortex | Q35949527 | ||
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A. | Q35958258 | ||
An assessment of sex bias in neurodevelopmental disorders | Q35996972 | ||
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant | Q36004324 | ||
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. | Q30428959 | ||
Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome | Q30453156 | ||
Functional activities of the amygdala: an overview | Q30501301 | ||
Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice. | Q30514133 | ||
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. | Q32063419 | ||
Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation | Q33283941 | ||
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability | Q33650848 | ||
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 | Q33717278 | ||
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay | Q33763087 | ||
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders | Q33794546 | ||
Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants | Q33818403 | ||
Sex hormones in autism: androgens and estrogens differentially and reciprocally regulate RORA, a novel candidate gene for autism | Q33832136 | ||
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes | Q33904472 | ||
Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder | Q33943718 | ||
Sex differences in the brain: implications for explaining autism | Q33991280 | ||
Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain | Q34017168 | ||
Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity | Q34020870 | ||
Examining and interpreting the female protective effect against autistic behavior | Q34035696 | ||
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders | Q34039999 | ||
The familial risk of autism | Q34040809 | ||
A genomewide screen for autism susceptibility loci | Q34044382 | ||
A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. | Q34044602 | ||
Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approach | Q34089144 | ||
Sibling recurrence and the genetic epidemiology of autism | Q34141369 | ||
Reelin gene alleles and susceptibility to autism spectrum disorders | Q34156261 | ||
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders | Q34162345 | ||
Dysregulation of estrogen receptor beta (ERβ), aromatase (CYP19A1), and ER co-activators in the middle frontal gyrus of autism spectrum disorder subjects | Q34168734 | ||
Sex differences in autism spectrum disorders | Q34182847 | ||
Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events | Q34182980 | ||
Elevated fetal steroidogenic activity in autism | Q34287458 | ||
Common DNA methylation alterations in multiple brain regions in autism. | Q34287640 | ||
Family history of schizophrenia and bipolar disorder as risk factors for autism | Q34295552 | ||
Microglia are essential to masculinization of brain and behavior | Q34327742 | ||
Sex differences in immune responses: Hormonal effects, antagonistic selection, and evolutionary consequences. | Q39036728 | ||
Brain-Derived Neurotrophic Factor Levels in Autism: A Systematic Review and Meta-Analysis. | Q39110745 | ||
Idiopathic Autism: Cellular and Molecular Phenotypes in Pluripotent Stem Cell-Derived Neurons | Q39644989 | ||
A double hit implicates DIAPH3 as an autism risk gene. | Q39724547 | ||
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder | Q40120248 | ||
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations. | Q41066145 | ||
Activity-dependent growth of new dendritic spines is regulated by the proteasome | Q41407450 | ||
Increased signaling by the autism-related Engrailed-2 protein enhances dendritic branching and spine density, alters synaptic structural matching, and exaggerates protein synthesis | Q41410549 | ||
Increased female autosomal burden of rare copy number variants in human populations and in autism families. | Q41591288 | ||
Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. | Q41614673 | ||
Copy number variation: what is it and what has it told us about child psychiatric disorders? | Q41939751 | ||
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases | Q42175057 | ||
Maternal viral infection during pregnancy impairs development of fetal serotonergic neurons. | Q42217313 | ||
The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome | Q42510417 | ||
Deficient autophagy in microglia impairs synaptic pruning and causes social behavioral defects | Q42619183 | ||
Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder | Q42638705 | ||
Autism symptoms in Attention-Deficit/Hyperactivity Disorder: a familial trait which correlates with conduct, oppositional defiant, language and motor disorders | Q42662785 | ||
Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications | Q43055222 | ||
Perseverative responding and neuroanatomical alterations in adult heterozygous reeler mice are mitigated by neonatal estrogen administration. | Q43069354 | ||
Fetal androgen exposure and pragmatic language ability of girls in middle childhood: implications for the extreme male-brain theory of autism | Q43141308 | ||
Behavior and serotonergic disorders in rats exposed prenatally to valproate: a model for autism | Q43207009 | ||
Unexplained autism is frequently associated with low-level mosaic aneuploidy. | Q43232477 | ||
Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders | Q43246437 | ||
Histone Acetylome-wide Association Study of Autism Spectrum Disorder. | Q43724674 | ||
Genomic Patterns of De Novo Mutation in Simplex Autism. | Q43828985 | ||
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A. | Q44104104 | ||
Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sample | Q45232519 | ||
Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis | Q45375790 | ||
5-HT1A-receptor agonist modified amygdala activity and amygdala-associated social behavior in a valproate-induced rat autism model | Q45773857 | ||
Prenatal exposure to valproic acid leads to reduced expression of synaptic adhesion molecule neuroligin 3 in mice. | Q45927791 | ||
Familial recurrence of autism spectrum disorder: evaluating genetic and environmental contributions. | Q45933261 | ||
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures | Q46049143 | ||
Autism-like behaviours with transient histone hyperacetylation in mice treated prenatally with valproic acid | Q46258990 | ||
Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16). | Q46830130 | ||
Kctd13 deletion reduces synaptic transmission via increased RhoA. | Q47035966 | ||
Ube3a, the E3 ubiquitin ligase causing Angelman syndrome and linked to autism, regulates protein homeostasis through the proteasomal shuttle Rpn10. | Q47070856 | ||
Excess Translation of Epigenetic Regulators Contributes to Fragile X Syndrome and Is Alleviated by Brd4 Inhibition. | Q47132107 | ||
Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. | Q47341079 | ||
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders | Q47389484 | ||
The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway. | Q47675041 | ||
Chronic treatment with valproic acid or sodium butyrate attenuates novel object recognition deficits and hippocampal dendritic spine loss in a mouse model of autism | Q47727299 | ||
Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders | Q47747851 | ||
Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. | Q47927504 | ||
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder | Q47967143 | ||
Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders | Q47998222 | ||
Relationship between absolute and relative ratios of glutamate, glutamine and GABA and severity of autism spectrum disorder | Q48110361 | ||
GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability | Q48138078 | ||
Abnormal instability, excess density, and aberrant morphology of dendritic spines in prenatally testosterone-exposed mice | Q48188428 | ||
Reduced prefrontal dopaminergic activity in valproic acid-treated mouse autism model | Q48213130 | ||
Genetic influences and infantile autism | Q48313383 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P921 | main subject | autism | Q38404 |
autism spectrum disorder | Q1436063 | ||
P304 | page(s) | 385 | |
P577 | publication date | 2019-08-20 | |
P1433 | published in | Frontiers in Cellular Neuroscience | Q2131509 |
P1476 | title | Genetic Causes and Modifiers of Autism Spectrum Disorder | |
P478 | volume | 13 |
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