R3CW6F last accessed: 2022-11-04

Other names: Autism Chromosome Rearrangement Database, ACRD

The Autism Chromosome Rearrangement Database is a collection of hand curated breakpoints and other genomic features, related to autism, taken from publicly available literature, databases and unpublished data.

Webpage:

http://projects.tcag.ca/autism

Licence:

Name: Open Data Commons (ODC) Public Domain Dedication and Licence (PDDL) 1.0
URL: http://opendatacommons.org/licenses/pddl/1.0/

Publications:

Publications
More detailed information about this field from each metasource.

Structural variation of chromosomes in autism spectrum disorder
PMID: 18252227
metasource: Fairsharing.org
version: FAIRsharing.org: The Autism Chromosome Rearrangement Database; The Autism Chromosome Rearrangement Database; DOI: https://doi.org/10.25504/FAIRsharing.ac329k; Last edited: April 26, 2021, 8:34 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

Structural variation of chromosomes in autism spectrum disorder PubMed citations: 819.

819 articles citing: Structural variation of chromosomes in autism spectrum disorder

Differential Gene Expression in the Hippocampi of Nonhuman Primates Chronically Exposed to Methamphetamine, Cocaine, or Heroin. PMID:35903056
Dynamic Features of Chromosomal Instability during Culture of Induced Pluripotent Stem Cells. PMID:35885940
A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder. PMID:35769969
The Role of Genetics, Epigenetics, and the Environment in ASD: A Mini Review. PMID:35735472
Clinical Implications of Chromosome 16 Copy Number Variation. PMID:35707588
Zika virus-induced TNF-α signaling dysregulates expression of neurologic genes associated with psychiatric disorders. PMID:35462541
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder. PMID:35440779
The Human-Restricted Isoform of the α7 nAChR, CHRFAM7A: A Double-Edged Sword in Neurological and Inflammatory Disorders. PMID:35408823
Population Genomic Sequencing Delineates Global Landscape of Copy Number Variations that Drive Domestication and Breed Formation of in Chicken. PMID:35391799
PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene. PMID:35328080
Identification of Novel Gene Variants for Autism Spectrum Disorders in the Lebanese Population Using Whole-Exome Sequencing. PMID:35205231
Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism. PMID:35168652
Research into the Association of Cadmium and Manganese Excretion with Thyroid Function and Behavioral Areas in Adolescents with Autism Spectrum Disorders. PMID:35160030
Editorial: Scalable Bioinformatics: Methods, Software Tools, and Hardware Architectures. PMID:35069709
Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan. PMID:35056323
Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation. PMID:35046931
Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay. PMID:35022430
Autism-Related Transcription Factors Underlying the Sex-Specific Effects of Prenatal Bisphenol A Exposure on Transcriptome-Interactome Profiles in the Offspring Prefrontal Cortex. PMID:34947998
Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders. PMID:34922566
A Unifying Theory for Autism: The Pathogenetic Triad as a Theoretical Framework. PMID:34867553
Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. PMID:34838103
SCYN: single cell CNV profiling method using dynamic programming. PMID:34789142
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. PMID:34737294
Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder. PMID:34690830
Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia. PMID:34659328
A Tiered Genetic Screening Strategy for the Molecular Diagnosis of Intellectual Disability in Chinese Patients. PMID:34630504
Molecular Dysregulation in Autism Spectrum Disorder. PMID:34575625
Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models. PMID:34549350
Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism. PMID:34538422
NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons. PMID:34525970
Glycosaminoglycan biosynthesis pathway in host genome is associated with Helicobacter pylori infection. PMID:34521966
Mechanisms Underlying the Suppression of Chromosome Rearrangements by Ataxia-Telangiectasia Mutated. PMID:34440406
Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. PMID:34433918
Sex-Specific Social Behavior and Amygdala Proteomic Deficits in Foxp2 +/- Mutant Mice. PMID:34421555
Identifying genetic variants for age of migraine onset in a Han Chinese population in Taiwan. PMID:34380431
Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma. PMID:34348663
Regulation of Neural Circuit Development by Cadherin-11 Provides Implications for Autism. PMID:34135003
A cross-comparison of cognitive ability across 8 genomic disorders. PMID:34082144
Role of Satb1 and Satb2 Transcription Factors in the Glutamate Receptors Expression and Ca2+ Signaling in the Cortical Neurons In Vitro. PMID:34073140
Environmental exposures associated with elevated risk for autism spectrum disorder may augment the burden of deleterious de novo mutations among probands. PMID:34002022
Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation. PMID:33936165
Caenorhabditis elegans PTR/PTCHD PTR-18 promotes the clearance of extracellular hedgehog-related protein via endocytosis. PMID:33872306
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder. PMID:33856728
CAPS2 Deficiency Impairs the Release of the Social Peptide Oxytocin, as Well as Oxytocin-Associated Social Behavior. PMID:33846232
Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models. PMID:33812298
Interpretable Machine Learning Reveals Dissimilarities Between Subtypes of Autism Spectrum Disorder. PMID:33719335
Synaptic recognition molecules in development and disease. PMID:33706921
Origin of Sex-Biased Mental Disorders: An Evolutionary Perspective. PMID:33630117
Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries. PMID:33595806
Copy number variations in Japanese children with autism spectrum disorder. PMID:33591083
Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis. PMID:33584815
Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder. PMID:33519384
Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models. PMID:33436060
A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa. PMID:33420067
A Bibliometric Insight of Genetic Factors in ASD: Emerging Trends and New Developments. PMID:33396229
Autism Spectrum Disorder Genetics and the Search for Pathological Mechanisms. PMID:33384012
The Gut-Brain Axis in Autism Spectrum Disorder: A Focus on the Metalloproteases ADAM10 and ADAM17. PMID:33374371
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism. PMID:33340270
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature. PMID:33321999
An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons. PMID:33268543
A novel structure associated with aging is augmented in the DPP6-KO mouse brain. PMID:33225987
Small Nuclear Ribonucleoprotein Polypeptide N Accelerates Malignant Progression and Poor Prognosis in Colorectal Cancer Transcriptionally Regulated by E2F8. PMID:33224876
Linking Autism Risk Genes to Disruption of Cortical Development. PMID:33218123
An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity. PMID:33167418
Fractionating autism based on neuroanatomical normative modeling. PMID:33159037
Hedgehog pathway activation through nanobody-mediated conformational blockade of the Patched sterol conduit. PMID:33139559
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder. PMID:33023636
16p11.2 Copy Number Variations and Neurodevelopmental Disorders. PMID:32993859
The methylation landscape and its role in domestication and gene regulation in the chicken. PMID:32958860
Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia. PMID:32942984
Genetic Advances in Autism. PMID:32940822
Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers. PMID:32870608
The Role of Alpha-Synuclein and Other Parkinson's Genes in Neurodevelopmental and Neurodegenerative Disorders. PMID:32785033
Genome-wide detection of tandem DNA repeats that are expanded in autism. PMID:32717741
Cerebral organoids as tools to identify the developmental roots of autism. PMID:32660622
Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1. PMID:32655619
Language characterization in 16p11.2 deletion and duplication syndromes. PMID:32652891
Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder. PMID:32624584
Multi-trait analysis for genome-wide association study of five psychiatric disorders. PMID:32606422
Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder. PMID:32578677
IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies. PMID:32578144
The sociability spectrum: evidence from reciprocal genetic copy number variations. PMID:32546261
Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease. PMID:32336296
De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. PMID:32321736
Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder. PMID:32244359
Activity-dependent isomerization of Kv4.2 by Pin1 regulates cognitive flexibility. PMID:32218435
CNV Radar: an improved method for somatic copy number alteration characterization in oncology. PMID:32143562
Increased Ca2+ signaling in NRXN1α +/- neurons derived from ASD induced pluripotent stem cells. PMID:31893021
High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability. PMID:31838600
Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. PMID:31801954
ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario. PMID:31800155
Structural variation in the sequencing era. PMID:31729472
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome. PMID:31703437
Combinatorial Targeting of Distributed Forebrain Networks Reverses Noise Hypersensitivity in a Model of Autism Spectrum Disorder. PMID:31648899
Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. PMID:31626773
A large data resource of genomic copy number variation across neurodevelopmental disorders. PMID:31602316
Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS. PMID:31540669
Altered kynurenine pathway metabolites in a mouse model of human attention-deficit hyperactivity/autism spectrum disorders: A potential new biological diagnostic marker. PMID:31515500
Genetic Causes and Modifiers of Autism Spectrum Disorder. PMID:31481879
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. PMID:31398340
Submicroscopic aberrations of chromosome 16 in prenatal diagnosis. PMID:31391865
Network-Based Integrative Analysis of Genomics, Epigenomics and Transcriptomics in Autism Spectrum Disorders. PMID:31323926
Neuroligin-4 Regulates Excitatory Synaptic Transmission in Human Neurons. PMID:31257103
Early life exposures, neurodevelopmental disorders, and transposable elements. PMID:31193573
Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder. PMID:31161481
Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders. PMID:31138894
Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations. PMID:31135887
Multiplane Calcium Imaging Reveals Disrupted Development of Network Topology in Zebrafish pcdh19 Mutants. PMID:31061071
Loss of EPAC2 alters dendritic spine morphology and inhibitory synapse density. PMID:31059774
Does Prenatal Stress Shape Postnatal Resilience? - An Epigenome-Wide Study on Violence and Mental Health in Humans. PMID:31040859
Research Review: Outcomes of 24- to 36-month-old children with autism spectrum disorder vary by ascertainment strategy: a systematic review and meta-analysis. PMID:31032937
Neocortical Projection Neurons Instruct Inhibitory Interneuron Circuit Development in a Lineage-Dependent Manner. PMID:31027966
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability. PMID:30874922
Genomic Copy Number Variations in the Autism Clinic-Work in Progress. PMID:30837845
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene. PMID:30820038
Dissecting the Heterogeneous Cortical Anatomy of Autism Spectrum Disorder Using Normative Models. PMID:30799285
CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks. PMID:30747104
Psychiatric disorders in children with 16p11.2 deletion and duplication. PMID:30664628
DNA methylation signatures of educational attainment. PMID:30631468
Genetics and epigenetics of autism spectrum disorder-current evidence in the field. PMID:30627967
Synaptopathology Involved in Autism Spectrum Disorder. PMID:30627085
iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes. PMID:30591030
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. PMID:30590535
The role of genetics and genomics in clinical psychiatry. PMID:30581286
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder. PMID:30555518
Altered sleep architecture, rapid eye movement sleep, and neural oscillation in a mouse model of human chromosome 16p11.2 microdeletion. PMID:30541142
Next-Generation Sequencing in Autism Spectrum Disorder. PMID:30420340
Toward the Language Oscillogenome. PMID:30405489
Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. PMID:30392976
Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder. PMID:30359605
Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. PMID:30345165
AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder. PMID:30339214
De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis. PMID:30298087
Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future. PMID:30210288
Syndromes Hidden within the 16p11.2 Deletion Region. PMID:30140194
NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice. PMID:30059965
Prenatal Alcohol Exposure Is Associated With Adverse Cognitive Effects and Distinct Whole-Genome DNA Methylation Patterns in Primary School Children. PMID:29997484
Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders. PMID:29948840
Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review. PMID:29947605
Autism throughout genetics: Perusal of the implication of ion channels. PMID:29934975
Pharmacological Inhibition of ERK Signaling Rescues Pathophysiology and Behavioral Phenotype Associated with 16p11.2 Chromosomal Deletion in Mice. PMID:29934348
Pharmacological modulation of AMPA receptor rescues social impairments in animal models of autism. PMID:29899405
High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders. PMID:29882083
A comparative study of the genetic components of three subcategories of autism spectrum disorder. PMID:29875476
Linking spatial gene expression patterns to sex-specific brain structural changes on a mouse model of 16p11.2 hemideletion. PMID:29844452
Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review. PMID:29808791
Increased vitamin D receptor gene expression and rs11568820 and rs4516035 promoter polymorphisms in autistic disorder. PMID:29777458
Persistent 6-OH-BDE-47 exposure impairs functional neuronal maturation and alters expression of neurodevelopmentally-relevant chromatin remodelers. PMID:29765770
Stage 1 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: protocol for a test of the double hit hypothesis. PMID:29744390
Copy Number Variation Disorders. PMID:29732242
An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder. PMID:29703944
DPP6 Loss Impacts Hippocampal Synaptic Development and Induces Behavioral Impairments in Recognition, Learning and Memory. PMID:29651237
Experience-dependent neuroplasticity of the developing hypothalamus: integrative epigenomic approaches. PMID:29613827
16p11.2 microdeletion syndrome: a case report. PMID:29609622
A Review of Oxytocin and Arginine-Vasopressin Receptors and Their Modulation of Autism Spectrum Disorder. PMID:29487501
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion. PMID:29445122
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap. PMID:29439242
The bidirectional association between sleep problems and autism spectrum disorder: a population-based cohort study. PMID:29423134
Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. PMID:29398931
Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism. PMID:29339533
LINE-1 retrotransposons in healthy and diseased human brain. PMID:29239145
Altered synaptic transmission and maturation of hippocampal CA1 neurons in a mouse model of human chr16p11.2 microdeletion. PMID:29212915
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly. PMID:29152164
Cellular Functions of the Autism Risk Factor PTCHD1 in Mice. PMID:29118110
Kctd13 deletion reduces synaptic transmission via increased RhoA. PMID:29088697
Genomic Programming of Human Neonatal Dendritic Cells in Congenital Systemic and In Vitro Cytomegalovirus Infection Reveal Plastic and Robust Immune Pathway Biology Responses. PMID:28993767
Clinical interpretation of copy number variants in the human genome. PMID:28963714
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder. PMID:28935972
Identification of novel candidate disease genes from de novo exonic copy number variants. PMID:28934986
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. PMID:28931914
Genomic Disorders in Psychiatry-What Does the Clinician Need to Know? PMID:28929285
The DLGAP family: neuronal expression, function and role in brain disorders. PMID:28870203
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder. PMID:28867142
A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. PMID:28761081
Shared atypical default mode and salience network functional connectivity between autism and schizophrenia. PMID:28730732
NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. PMID:28721829
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families. PMID:28720891
Strength of functional signature correlates with effect size in autism. PMID:28687074
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. PMID:28670437
Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes. PMID:28649445
Regulation of neural circuit formation by protocadherins. PMID:28631008
Genetic Approaches to Understanding Psychiatric Disease. PMID:28608171
Impact of Dendrimers on Solubility of Hydrophobic Drug Molecules. PMID:28559844
Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population. PMID:28513607
APLP1 Is a Synaptic Cell Adhesion Molecule, Supporting Maintenance of Dendritic Spines and Basal Synaptic Transmission. PMID:28450540
Human induced pluripotent stem cells for modelling neurodevelopmental disorders. PMID:28418023
De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome. PMID:28407363
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications. PMID:28357200
Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions. PMID:28357155
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy. PMID:28287497
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. PMID:28281572
GeneAnalytics Pathway Analysis and Genetic Overlap among Autism Spectrum Disorder, Bipolar Disorder and Schizophrenia. PMID:28264500
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. PMID:28263302
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. PMID:28260531
MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at Drosophila Larval Neuromuscular Junctions. PMID:28196412
Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder. PMID:28190241
MLPA analysis in a cohort of patients with autism. PMID:28174603
Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach. PMID:28120152
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder. PMID:28118382
Resources available for autism research in the big data era: a systematic review. PMID:28097074
Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. PMID:27975050
Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report. PMID:27924152
A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. PMID:27909399
Satb2 determines miRNA expression and long-term memory in the adult central nervous system. PMID:27897969
Comparative efficacy of alpha-linolenic acid and gamma-linolenic acid to attenuate valproic acid-induced autism-like features. PMID:27878518
A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes. PMID:27860035
Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities. PMID:27842596
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. PMID:27841880
Pharmacogenetics and Pharmacotherapy of Military Personnel Suffering from Post-traumatic Stress Disorder. PMID:27834145
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication. PMID:27832746
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. PMID:27796743
Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy. PMID:27787195
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation. PMID:27777633
Copy number variations in Saudi family with intellectual disability and epilepsy. PMID:27766957
Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation. PMID:27757059
The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia. PMID:27695666
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. PMID:27694994
Bibliometric profile of the global scientific research on autism spectrum disorders. PMID:27652054
The Contribution of Mosaic Variants to Autism Spectrum Disorder. PMID:27632392
The Purkinje neuron: A central orchestrator of cerebellar neurogenesis. PMID:27604220
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. PMID:27569545
VARPRISM: incorporating variant prioritization in tests of de novo mutation association. PMID:27562213
Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders. PMID:27535846
Genome-wide characteristics of de novo mutations in autism. PMID:27525107
A novel copy number variants kernel association test with application to autism spectrum disorders studies. PMID:27497442
The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1. PMID:27430727
Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies. PMID:27405608
Perturbed proteostasis in autism spectrum disorders. PMID:27365114
Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics. PMID:27305922
Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again. PMID:27274747
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. PMID:27271878
miRNAs in NMDA receptor-dependent synaptic plasticity and psychiatric disorders. PMID:27252401
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. PMID:27240531
MicroRNAs: Key Regulators in the Central Nervous System and Their Implication in Neurological Diseases. PMID:27240359
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. PMID:27207092
The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder. PMID:27200076
SMASH, a fragmentation and sequencing method for genomic copy number analysis. PMID:27197213
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. PMID:27195815
Coming of age: ten years of next-generation sequencing technologies. PMID:27184599
Morphometric Analysis of Recognized Genes for Autism Spectrum Disorders and Obesity in Relationship to the Distribution of Protein-Coding Genes on Human Chromosomes. PMID:27164088
Advancing the understanding of autism disease mechanisms through genetics. PMID:27050589
Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice. PMID:27007844
Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops. PMID:26985722
An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis. PMID:26925314
Drosophila Homolog of Human KIF22 at the Autism-Linked 16p11.2 Loci Influences Synaptic Connectivity at Larval Neuromuscular Junctions. PMID:26924931
Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder. PMID:26903887
Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes. PMID:26872257
COSMOS: accurate detection of somatic structural variations through asymmetric comparison between tumor and normal samples. PMID:26833260
Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1. PMID:26811410
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. PMID:26742492
POGZ truncating alleles cause syndromic intellectual disability. PMID:26739615
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements. PMID:26732513
Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications. PMID:26713075
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. PMID:26629640
Etiology of Obesity Over the Life Span: Ecological and Genetic Highlights from Asian Countries. PMID:26626465
16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks. PMID:26572653
Merging data from genetic and epigenetic approaches to better understand autistic spectrum disorder. PMID:26551091
3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances. PMID:26523151
Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families. PMID:26512313
A comparison of genetically matched cell lines reveals the equivalence of human iPSCs and ESCs. PMID:26501951
Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders. PMID:26500678
FoxP1 orchestration of ASD-relevant signaling pathways in the striatum. PMID:26494785
Characterizing autism spectrum disorders by key biochemical pathways. PMID:26483618
Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I. PMID:26464974
Copy number variation associates with mortality in long-lived individuals: a genome-wide assessment. PMID:26446717
Intelligence May Moderate the Cognitive Profile of Patients with ASD. PMID:26444877
Behavioral phenotypes of genetic mouse models of autism. PMID:26403076
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. PMID:26402605
Shared Pathways Among Autism Candidate Genes Determined by Co-expression Network Analysis of the Developing Human Brain Transcriptome. PMID:26399424
Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization. PMID:26390810
Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. PMID:26350728
Does the cognitive architecture of simplex and multiplex ASD families differ? PMID:26340958
Genome-Wide Study of Structural Variants in Bovine Holstein, Montbéliarde and Normande Dairy Breeds. PMID:26317361
Neuroligin 1 modulates striatal glutamatergic neurotransmission in a pathway and NMDAR subunit-specific manner. PMID:26283958
Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder. PMID:26273832
Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging. PMID:26216298
Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications. PMID:26213586
Kv4.2 and accessory dipeptidyl peptidase-like protein 10 (DPP10) subunit preferentially form a 4:2 (Kv4.2:DPP10) channel complex. PMID:26209633
Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes. PMID:26204995
Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism. PMID:26204268
Immune mediators in the brain and peripheral tissues in autism spectrum disorder. PMID:26189694
Genetics and genomics of autism spectrum disorder: embracing complexity. PMID:26188008
Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice. PMID:26137200
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. PMID:26105128
Recent advances in the genetics of autism spectrum disorder. PMID:25946996
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. PMID:25937446
Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia. PMID:25923336
The impact of human copy number variation on gene expression. PMID:25922366
ZNF804A Transcriptional Networks in Differentiating Neurons Derived from Induced Pluripotent Stem Cells of Human Origin. PMID:25905630
Genomic imbalances in pediatric patients with chronic kidney disease. PMID:25893603
Gene hunting in autism spectrum disorder: on the path to precision medicine. PMID:25891009
Epileptic syndromes: From clinic to genetic. PMID:25874049
Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder. PMID:25853262
Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders. PMID:25852443
SHANK Mutations May Disorder Brain Development. PMID:25852441
The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment. PMID:25851569
Synergistic interactions between Drosophila orthologues of genes spanned by de novo human CNVs support multiple-hit models of autism. PMID:25816101
GROM-RD: resolving genomic biases to improve read depth detection of copy number variants. PMID:25802807
Performance of case-control rare copy number variation annotation in classification of autism. PMID:25783485
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. PMID:25782667
Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers. PMID:25749760
Meta-Analysis of Gene Expression in Autism Spectrum Disorder. PMID:25720351
Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. PMID:25695269
Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1. PMID:25694803
A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. PMID:25685306
Autism-associated mutation inhibits protein kinase C-mediated neuroligin-4X enhancement of excitatory synapses. PMID:25675530
Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion. PMID:25667815
16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions. PMID:25663600
Duplications in ADHD patients harbour neurobehavioural genes that are co-expressed with genes associated with hyperactivity in the mouse. PMID:25656289
Whole-genome sequencing of quartet families with autism spectrum disorder. PMID:25621899
The molecular genetic architecture of attention deficit hyperactivity disorder. PMID:25600112
Genome-wide analysis identifies a role for common copy number variants in specific language impairment. PMID:25585696
Increased female autosomal burden of rare copy number variants in human populations and in autism families. PMID:25582617
Genomic sister-disorders of neurodevelopment: an evolutionary approach. PMID:25567849
Brief Report: Phenotypic Differences and their Relationship to Paternal Age and Gender in Autism Spectrum Disorder. PMID:25526953
Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders. PMID:25483344
Autism spectrum disorders: from genes to neurobiology. PMID:25464374
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. PMID:25432440
Abnormal emotional learning in a rat model of autism exposed to valproic acid in utero. PMID:25429264
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. PMID:25424714
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. PMID:25413698
NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disorders. PMID:25408897
Dental caries experience and periodontal treatment needs of children with autistic spectrum disorder. PMID:25385711
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. PMID:25385366
The contribution of de novo coding mutations to autism spectrum disorder. PMID:25363768
Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders. PMID:25351249
Genome-wide association study of copy number variations (CNVs) with opioid dependence. PMID:25345593
A candidate gene association study further corroborates involvement of contactin genes in autism. PMID:25337070
SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. PMID:25313507
Synaptic proteins and receptors defects in autism spectrum disorders. PMID:25309321
An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder. PMID:25303678
Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma. PMID:25284765
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. PMID:25279985
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. PMID:25255310
DPP6 domains responsible for its localization and function. PMID:25190807
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. PMID:25188300
Copy number variation in Han Chinese individuals with autism spectrum disorder. PMID:25170348
Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms. PMID:25136320
DPP6 gene disruption in a family with Gilles de la Tourette syndrome. PMID:25129042
Transient overexposure of neuregulin 3 during early postnatal development impacts selective behaviors in adulthood. PMID:25093331
Mouse Models of 22q11.2-Associated Autism Spectrum Disorder. PMID:25089229
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. PMID:25073507
Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits. PMID:25071926
Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. PMID:25034949
A de novo genome assembly algorithm for repeats and nonrepeats. PMID:24967398
Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants. PMID:24954825
Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures. PMID:24916972
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. PMID:24906019
High-throughput capturing and characterization of mutations in essential genes of Caenorhabditis elegans. PMID:24884423
Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era. PMID:24878448
A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes. PMID:24875393
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. PMID:24859339
Evolutionary conservation in genes underlying human psychiatric disorders. PMID:24834046
Chromatin regulators, phenotypic robustness, and autism risk. PMID:24782891
The genetics of microdeletion and microduplication syndromes: an update. PMID:24773319
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. PMID:24768552
Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome. PMID:24752061
Heat shock alters the expression of schizophrenia and autism candidate genes in an induced pluripotent stem cell model of the human telencephalon. PMID:24736721
Potential Role of Selenoenzymes and Antioxidant Metabolism in relation to Autism Etiology and Pathology. PMID:24734177
Modulatory mechanisms and multiple functions of somatodendritic A-type K (+) channel auxiliary subunits. PMID:24723849
Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. PMID:24722188
Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus. PMID:24709989
A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample. PMID:24677629
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. PMID:24672537
Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation. PMID:24667286
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. PMID:24643514
Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation. PMID:24625750
Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders. PMID:24618187
Genetic aspects of autism spectrum disorders: insights from animal models. PMID:24605088
Optimization and in vivo toxicity evaluation of G4.5 PAMAM dendrimer-risperidone complexes. PMID:24587349
Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression. PMID:24587348
The developmental transcriptome of the human brain: implications for neurodevelopmental disorders. PMID:24565942
Neonatal genome-wide methylation patterns in relation to birth weight in the Norwegian Mother and Child Cohort. PMID:24561991
Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. PMID:24533643
A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk. PMID:24528994
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. PMID:24501278
Glutamatergic candidate genes in autism spectrum disorder: an overview. PMID:24493018
Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population. PMID:24467814
The role of de novo mutations in the genetics of autism spectrum disorders. PMID:24430941
Role of the DLGAP2 gene encoding the SAP90/PSD-95-associated protein 2 in schizophrenia. PMID:24416398
Long non-coding RNAs in neurodevelopmental disorders. PMID:24415997
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. PMID:24410847
A de novo convergence of autism genetics and molecular neuroscience. PMID:24387789
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. PMID:24381304
Ohnologs are overrepresented in pathogenic copy number mutations. PMID:24368850
De novo copy number variations in cloned dogs from the same nuclear donor. PMID:24313905
Using genetic findings in autism for the development of new pharmaceutical compounds. PMID:24292384
Transcriptional dysregulation of neocortical circuit assembly in ASD. PMID:24290386
MET receptor tyrosine kinase as an autism genetic risk factor. PMID:24290385
Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? PMID:24289166
Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants. PMID:24287856
Assessment of infantile mineral imbalances in autism spectrum disorders (ASDs). PMID:24284360
Genome-wide significant localization for working and spatial memory: Identifying genes for psychosis using models of cognition. PMID:24243780
Transcriptomic analysis of genetically defined autism candidate genes reveals common mechanisms of action. PMID:24238429
The prion protein modulates A-type K+ currents mediated by Kv4.2 complexes through dipeptidyl aminopeptidase-like protein 6. PMID:24225951
A genome-wide survey of transgenerational genetic effects in autism. PMID:24204716
The genomics of schizophrenia: update and implications. PMID:24177465
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. PMID:24126926
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PMID:24098143
A molecular genetic study of autism and related phenotypes in extended pedigrees. PMID:24093601
Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome. PMID:24063311
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. PMID:23999528
Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders. PMID:23917946
Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders. PMID:23915500
DPP6 regulation of dendritic morphogenesis impacts hippocampal synaptic development. PMID:23912628
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. PMID:23897863
Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders. PMID:23885228
Identification of candidate intergenic risk loci in autism spectrum disorder. PMID:23879678
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. PMID:23871722
Mapping mammalian synaptic connectivity. PMID:23864031
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. PMID:23849776
Altered social behaviours in neurexin 1α knockout mice resemble core symptoms in neurodevelopmental disorders. PMID:23840597
Chromatin-bound RNA and the neurobiology of psychiatric disease. PMID:23831425
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. PMID:23813976
Autism as early neurodevelopmental disorder: evidence for an sAPPα-mediated anabolic pathway. PMID:23801940
Disorders caused by chromosome abnormalities. PMID:23776360
Detection of selective sweeps in cattle using genome-wide SNP data. PMID:23758707
AKAPs integrate genetic findings for autism spectrum disorders. PMID:23756379
Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. PMID:23754953
Genomics and genetics in the biology of adaptation to exercise. PMID:23733655
The expanding genomic landscape of autism: discovering the 'forest' beyond the 'trees'. PMID:23637569
Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. PMID:23625158
Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits. PMID:23608919
A genomic view of mosaicism and human disease. PMID:23594909
A new TASK for Dipeptidyl Peptidase-like Protein 6. PMID:23593319
Modeling autism by SHANK gene mutations in mice. PMID:23583105
Distribution of disease-associated copy number variants across distinct disorders of cognitive development. PMID:23582872
An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk. PMID:23575222
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. PMID:23472757
Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. PMID:23468870
Alterations in the Brain Transcriptome in Plasmodium Berghei ANKA Infected Mice. PMID:23467761
The genomically mosaic brain: aneuploidy and more in neural diversity and disease. PMID:23466288
Insights on the functional impact of microRNAs present in autism-associated copy number variants. PMID:23451085
Evaluating rare variants in complex disorders using next-generation sequencing. PMID:23435969
Estimation of autistic children by metallomics analysis. PMID:23383369
A high-resolution enhancer atlas of the developing telencephalon. PMID:23375746
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. PMID:23375656
Genomics and autism spectrum disorder. PMID:23368711
Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. PMID:23341896
Human brain evolution: transcripts, metabolites and their regulators. PMID:23324662
Genetic copy number variation and general cognitive ability. PMID:23300510
Chapter 6: Structural variation and medical genomics. PMID:23300412
A discovery resource of rare copy number variations in individuals with autism spectrum disorder. PMID:23275889
Neuronal connectivity as a convergent target of gene × environment interactions that confer risk for Autism Spectrum Disorders. PMID:23269408
The genetics of Autism Spectrum Disorders--a guide for clinicians. PMID:23250815
Structural, genetic, and functional signatures of disordered neuro-immunological development in autism spectrum disorder. PMID:23239965
Fast detection of de novo copy number variants from SNP arrays for case-parent trios. PMID:23234608
Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PMID:23227143
Autism risk factors: genes, environment, and gene-environment interactions. PMID:23226953
Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders. PMID:23226950
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. PMID:23225497
Human-specific histone methylation signatures at transcription start sites in prefrontal neurons. PMID:23185133
Common variant at 16p11.2 conferring risk of psychosis. PMID:23164818
Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. PMID:23144566
Imaging and genetics of language and cognition in pediatric epilepsy. PMID:23116771
A review of the evidence for the canonical Wnt pathway in autism spectrum disorders. PMID:23083465
Common genetic variants, acting additively, are a major source of risk for autism. PMID:23067556
Atypical activation during the Embedded Figures Task as a functional magnetic resonance imaging endophenotype of autism. PMID:23065480
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. PMID:23054248
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. PMID:23032108
Protocadherin α (PCDHA) as a novel susceptibility gene for autism. PMID:23031252
De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining. PMID:23028374
Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder. PMID:23020841
High-resolution whole-genome analysis of skull base chordomas implicates FHIT loss in chordoma pathogenesis. PMID:23019410
Human-specific CpG "beacons" identify loci associated with human-specific traits and disease. PMID:22968434
Autism-associated promoter variant in MET impacts functional and structural brain networks. PMID:22958829
Association testing of copy number variants in schizophrenia and autism spectrum disorders. PMID:22958593
The broader autism phenotype and its implications on the etiology and treatment of autism spectrum disorders. PMID:22937250
The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications. PMID:22937247
Social, communication, and cortical structural impairments in Epac2-deficient mice. PMID:22915127
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PMID:22912587
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. PMID:22909776
Animal models of psychiatric disorders that reflect human copy number variation. PMID:22900207
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. PMID:22892527
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. PMID:22872102
Autism genetics: searching for specificity and convergence. PMID:22849751
Individual common variants exert weak effects on the risk for autism spectrum disorders. PMID:22843504
Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genes. PMID:22832527
Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2. PMID:22820233
MicroRNAs: a light into the "black box" of neuropediatric diseases? PMID:22810393
De novo mutations in human genetic disease. PMID:22805709
Parents' perspectives on participating in genetic research in autism. PMID:22782649
Genetic architectures of psychiatric disorders: the emerging picture and its implications. PMID:22777127
Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder. PMID:22773736
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. PMID:22726847
Lack of evidence for neonatal misoprostol neurodevelopmental toxicity in C57BL6/J mice. PMID:22719983
The Long and the Short of it: Gene and Environment Interactions During Early Cortical Development and Consequences for Long-Term Neurological Disease. PMID:22701439
Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1. PMID:22670139
Lack of association between parental ABO blood type and autism spectrum disorders. PMID:22630142
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. PMID:22617343
Imaging-genetics in autism spectrum disorder: advances, translational impact, and future directions. PMID:22615702
Alterations of social interaction through genetic and environmental manipulation of the 22q11.2 gene Sept5 in the mouse brain. PMID:22589251
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. PMID:22566635
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. PMID:22566537
A genetic model for neurodevelopmental disease. PMID:22560351
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. PMID:22543975
De novo gene disruptions in children on the autistic spectrum. PMID:22542183
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. PMID:22521361
No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis. PMID:22509109
SHANK1 Deletions in Males with Autism Spectrum Disorder. PMID:22503632
The genetic variability and commonality of neurodevelopmental disease. PMID:22499536
Transcriptional co-regulation of neuronal migration and laminar identity in the neocortex. PMID:22492350
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. PMID:22480366
Six developmental trajectories characterize children with autism. PMID:22473372
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. PMID:22472195
Sex differences in children with autism spectrum disorder identified within a high-risk infant cohort. PMID:22453928
Altered balance of proteolytic isoforms of pro-brain-derived neurotrophic factor in autism. PMID:22437340
Male gender bias in autism and pediatric autoimmunity. PMID:22431266
CNVs: harbingers of a rare variant revolution in psychiatric genetics. PMID:22424231
Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. PMID:22420048
MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction. PMID:22406400
Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool. PMID:22382927
Genomics, intellectual disability, and autism. PMID:22356326
Infantile zinc deficiency: association with autism spectrum disorders. PMID:22355646
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PMID:22346768
Augmentation of Kv4.2-encoded currents by accessory dipeptidyl peptidase 6 and 10 subunits reflects selective cell surface Kv4.2 protein stabilization. PMID:22311982
Autism in association with Triple X syndrome. PMID:22311144
What is complex about complex disorders? PMID:22269335
Online resources for genomic structural variation. PMID:22228017
Chromosome 15q24 microdeletion syndrome. PMID:22216833
Rare deletions at the neurexin 3 locus in autism spectrum disorder. PMID:22209245
Reducing system noise in copy number data using principal components of self-self hybridizations. PMID:22207624
High frequencies of de novo CNVs in bipolar disorder and schizophrenia. PMID:22196331
Further clinical and molecular delineation of the 15q24 microdeletion syndrome. PMID:22180641
A brain region-specific predictive gene map for autism derived by profiling a reference gene set. PMID:22174805
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. PMID:22169095
AutismKB: an evidence-based knowledgebase of autism genetics. PMID:22139918
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. PMID:22138692
Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype. PMID:22132061
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PMID:22102821
Bidirectional regulation of dendritic voltage-gated potassium channels by the fragile X mental retardation protein. PMID:22099464
Following the genes: a framework for animal modeling of psychiatric disorders. PMID:22078115
Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain. PMID:22056773
The conundrums of understanding genetic risks for autism spectrum disorders. PMID:22037497
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PMID:22016809
Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes. PMID:21999758
An overview of mongenic and syndromic obesities in humans. PMID:21994130
Autistic traits below the clinical threshold: re-examining the broader autism phenotype in the 21st century. PMID:21989834
Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees. PMID:21982423
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. PMID:21969575
DPP6 establishes the A-type K(+) current gradient critical for the regulation of dendritic excitability in CA1 hippocampal neurons. PMID:21943606
Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways. PMID:21935439
Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity. PMID:21931978
Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model. PMID:21908517
Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families. PMID:21905246
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. PMID:21881559
Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders. PMID:21876820
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. PMID:21865298
Genetics of autism spectrum disorders. PMID:21855394
Human copy number variation and complex genetic disease. PMID:21854229
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. PMID:21844811
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. PMID:21837366
Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism risk. PMID:21832174
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. PMID:21827697
Autism: a "critical period" disorder? PMID:21826280
Links between genetics and pathophysiology in the autism spectrum disorders. PMID:21805639
Emerging themes in GABAergic synapse development. PMID:21798307
The neurobiology of mouse models syntenic to human chromosome 15q. PMID:21789598
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. PMID:21782149
Genetics of childhood obesity. PMID:21773009
2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders. PMID:21750575
The ongoing dissection of the genetic architecture of autistic spectrum disorder. PMID:21740537
New perspectives on rodent models of advanced paternal age: relevance to autism. PMID:21734873
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. PMID:21731881
Risk factors for autism: translating genomic discoveries into diagnostics. PMID:21701786
Why are autism spectrum conditions more prevalent in males? PMID:21695109
Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disorders. PMID:21687627
Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study. PMID:21660214
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. PMID:21658583
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. PMID:21658581
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms. PMID:21654729
Protein interactome reveals converging molecular pathways among autism disorders. PMID:21653829
An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus. PMID:21642956
Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection. PMID:21627829
The application of gene co-expression network reconstruction based on CNVs and gene expression microarray data in breast cancer. PMID:21611746
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. PMID:21572417
Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism. PMID:21565394
Presenilin/γ-secretase regulates neurexin processing at synapses. PMID:21559374
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. PMID:21558424
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. PMID:21552272
Novel copy number variants in children with autism and additional developmental anomalies. PMID:21547721
Medical conditions in autism spectrum disorders. PMID:21547710
MAOA, DBH, and SLC6A4 variants in CHARGE: a case-control study of autism spectrum disorders. PMID:21538940
ANKRD11 gene deletion in a 17-year-old male. PMID:21527850
A new synaptic player leading to autism risk: Met receptor tyrosine kinase. PMID:21509596
Phenotype mining in CNV carriers from a population cohort. PMID:21505072
Circuit-specific intracortical hyperconnectivity in mice with deletion of the autism-associated Met receptor tyrosine kinase. PMID:21490227
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism. PMID:21484201
Targeted treatments for fragile X syndrome. PMID:21484200
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. PMID:21484199
[Autism and ADHD across the life span. Differential diagnoses or comorbidity?]. PMID:21484168
Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21. PMID:21480499
A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population. PMID:21477380
[Genetics and animal modeling of autism spectrum disorders. New developments]. PMID:21472451
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. PMID:21448237
Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene. PMID:21439084
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. PMID:21424692
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations. PMID:21394203
The autism risk genes MET and PLAUR differentially impact cortical development. PMID:21328570
Progress in understanding autism: 2007-2010. PMID:21318644
Copy number variations and primary open-angle glaucoma. PMID:21310917
Annual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders. PMID:21309772
Contactin 4 as an autism susceptibility locus. PMID:21308999
Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion. PMID:21291539
Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders. PMID:21283809
Animal model integration to AutDB, a genetic database for autism. PMID:21272355
DIA1R is an X-linked gene related to Deleted In Autism-1. PMID:21264219
Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome. PMID:21259039
Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: initial studies and future directions. PMID:21254450
A genotype resource for postmortem brain samples from the Autism Tissue Program. PMID:21254448
Copy number variants: a new molecular frontier in clinical psychiatry. PMID:21253883
Relationships between gene expression and brain wiring in the adult rodent brain. PMID:21253556
Revealing the genetic basis of multiple sclerosis: are we there yet? PMID:21247752
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. PMID:21247446
CNV-WebStore: online CNV analysis, storage and interpretation. PMID:21208430
Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample. PMID:21206513
Non-clustered protocadherin. PMID:21173574
Conserved subcortical and divergent cortical expression of proteins encoded by orthologs of the autism risk gene MET. PMID:21127014
The genetic basis of non-syndromic intellectual disability: a review. PMID:21124998
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PMID:21124890
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. PMID:21109226
Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study. PMID:21089066
Do common variants play a role in risk for autism? Evidence and theoretical musings. PMID:21078308
Population- and family-based studies associate the MTHFR gene with idiopathic autism in simplex families. PMID:21069446
Genomic copy number variation in disorders of cognitive development. PMID:20970697
New copy number variations in schizophrenia. PMID:20967226
The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. PMID:20955933
Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome. PMID:20952458
Distinct disorders affecting the brain share common genetic origins. PMID:20948821
Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding. PMID:20885821
Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes. PMID:20859452
A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation. PMID:20858261
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. PMID:20848658
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. PMID:20844286
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PMID:20838587
Autism and X-linked hypophosphatemia: A possible association? PMID:20838491
Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs. PMID:20824079
Etiologies and molecular mechanisms of communication disorders. PMID:20814255
Neuronal voltage-gated K+ (Kv) channels function in macromolecular complexes. PMID:20813163
Phenotypic variability and genetic susceptibility to genomic disorders. PMID:20807775
Case-control genome-wide association study of attention-deficit/hyperactivity disorder. PMID:20732627
On the genome-wide analysis of copy number variants in family-based designs: methods for combining family-based and population-based information for testing dichotomous or quantitative traits, or completely ascertained samples. PMID:20718041
The psychosis susceptibility gene ZNF804A: associations, functions, and phenotypes. PMID:20688871
Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. PMID:20684015
Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees. PMID:20678250
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. PMID:20678247
A genome-wide scan for common alleles affecting risk for autism. PMID:20663923
Autism, language and communication in children with sex chromosome trisomies. PMID:20656736
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. PMID:20655035
Multiple sclerosis genetics--is the glass half full, or half empty? PMID:20625377
A multilevel model to address batch effects in copy number estimation using SNP arrays. PMID:20625178
Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approach. PMID:20610137
Social demographic change and autism. PMID:20608100
Genomic insights into early-onset obesity. PMID:20587078
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. PMID:20587050
Dipeptidyl peptidase-like protein 6 is required for normal electrophysiological properties of cerebellar granule cells. PMID:20573902
Neurexin in embryonic Drosophila neuromuscular junctions. PMID:20559439
Accuracy of phenotyping of autistic children based on Internet implemented parent report. PMID:20552678
Functional impact of global rare copy number variation in autism spectrum disorders. PMID:20531469
Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes. PMID:20526357
Duplication 16p11.2 in a child with infantile seizure disorder. PMID:20503337
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PMID:20502679
Genetic determinants of autism in individuals with deletions of 18q. PMID:20499253
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. PMID:20473310
Neurexins physically and functionally interact with GABA(A) receptors. PMID:20471353
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. PMID:20468056
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. PMID:20466091
Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation. PMID:20459802
Linkage and candidate gene studies of autism spectrum disorders in European populations. PMID:20442744
Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. PMID:20439386
Genome-wide approaches to schizophrenia. PMID:20433910
Tourette syndrome is associated with recurrent exonic copy number variants. PMID:20427753
The MECP2 duplication syndrome. PMID:20425814
Accurate distinction of pathogenic from benign CNVs in mental retardation. PMID:20421931
Suggestive linkage of the child behavior checklist juvenile bipolar disorder phenotype to 1p21, 6p21, and 8q21. PMID:20410730
[Genetic and brain structure anomalies in autism spectrum disorders. Towards an understanding of the aetiopathogenesis?]. PMID:20407737
Uncovering molecular biomarkers that correlate cognitive decline with the changes of hippocampus' gene expression profiles in Alzheimer's disease. PMID:20405009
RIM1alpha and interacting proteins involved in presynaptic plasticity mediate prepulse inhibition and additional behaviors linked to schizophrenia. PMID:20392954
MicroRNAs in psychiatric and neurodevelopmental disorders. PMID:20388499
Parental and grandparental ages in the autistic spectrum disorders: a birth cohort study. PMID:20376340
Whole genome association studies in complex diseases: where do we stand? PMID:20373665
Rare NRXN1 promoter variants in patients with schizophrenia. PMID:20347009
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. PMID:20346443
Association of autism with polyomavirus infection in postmortem brains. PMID:20345322
A double hit implicates DIAPH3 as an autism risk gene. PMID:20308993
Clinical genetic testing for patients with autism spectrum disorders. PMID:20231187
The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. PMID:20198484
The correlation between rates of cancer and autism: an exploratory ecological investigation. PMID:20186340
The Genetic Basis of Thought Disorder and Language and Communication Disturbances in Schizophrenia. PMID:20161689
The genetics of autism: key issues, recent findings, and clinical implications. PMID:20159341
The role of genetics in the etiology of schizophrenia. PMID:20159339
Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder. PMID:20148275
Molecular genetics of attention-deficit/hyperactivity disorder: an overview. PMID:20145962
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. PMID:20130649
Copy number variation in the genomes of twelve natural isolates of Caenorhabditis elegans. PMID:20100350
Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. PMID:20093387
Expanding the range of ZNF804A variants conferring risk of psychosis. PMID:20048749
Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model. PMID:20041141
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. PMID:20034085
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. PMID:20029941
Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics. PMID:20029829
Advances in translational bioinformatics: computational approaches for the hunting of disease genes. PMID:20007728
Large, rare chromosomal deletions associated with severe early-onset obesity. PMID:19966786
Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia. PMID:19955444
Pathogenesis of autism: a patchwork of genetic causes. PMID:19953194
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. PMID:19949810
Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes. PMID:19949547
Recent advances in the pathogenesis of syndromic autisms. PMID:19946417
Genetics of autistic disorders: review and clinical implications. PMID:19941018
Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism. PMID:19935830
Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism. PMID:19935738
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. PMID:19920853
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. PMID:19914906
A novel N-terminal motif of dipeptidyl peptidase-like proteins produces rapid inactivation of KV4.2 channels by a pore-blocking mechanism. PMID:19901547
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. PMID:19896112
Genetic overlap between autism, schizophrenia and bipolar disorder. PMID:19886976
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. PMID:19883952
Microduplications of 16p11.2 are associated with schizophrenia. PMID:19855392
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. PMID:19845972
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. PMID:19843651
Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. PMID:19822762
Autism. PMID:19819542
A genome-wide linkage and association scan reveals novel loci for autism. PMID:19812673
A genome wide association analysis in the GENDER study. PMID:19789690
Quadruplex MAPH: improvement of throughput in high-resolution copy number screening. PMID:19785739
Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. PMID:19778453
Statistical issues in the analysis of DNA Copy Number Variations. PMID:19774103
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. PMID:19736351
Pharmacology and genetics of autism: implications for diagnosis and treatment. PMID:19727434
A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. PMID:19726642
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. PMID:19716111
Copy number variation in human health, disease, and evolution. PMID:19715442
Syndromic autism: causes and pathogenetic pathways. PMID:19693459
Neurexin 1 (NRXN1) deletions in schizophrenia. PMID:19675094
Association of microsatellite polymorphisms of the GPDS1 locus with normal tension glaucoma in the Japanese population. PMID:19668583
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PMID:19668335
Sensitive and accurate detection of copy number variants using read depth of coverage. PMID:19657104
Advances in autism. PMID:19630577
Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. PMID:19617637
Autism-associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2. PMID:19615670
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. PMID:19582487
Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder. PMID:19565319
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PMID:19557195
Forging links between human mental retardation-associated CNVs and mouse gene knockout models. PMID:19557186
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. PMID:19546859
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. PMID:19546099
Molecular cytogenetics and cytogenomics of brain diseases. PMID:19506734
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. PMID:19506092
Gene-network analysis identifies susceptibility genes related to glycobiology in autism. PMID:19492091
A geometric approach for classification and comparison of structural variants. PMID:19477992
Genetic advances in autism: heterogeneity and convergence on shared pathways. PMID:19477629
Duplication hotspots, rare genomic disorders, and common disease. PMID:19477115
Genome-wide linkage in Utah autism pedigrees. PMID:19455147
Convergent modulation of Kv4.2 channel alpha subunits by structurally distinct DPPX and KChIP auxiliary subunits. PMID:19441798
Multiple rare variants in the etiology of autism spectrum disorders. PMID:19432386
Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes. PMID:19424424
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. PMID:19404257
Common genetic variants on 5p14.1 associate with autism spectrum disorders. PMID:19404256
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. PMID:19401682
Genome-wide association studies in ADHD. PMID:19384554
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. PMID:19384346
Imaging phenotypes of major depressive disorder: genetic correlates. PMID:19358877
Genetics of autism spectrum disorders. PMID:19348707
The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. PMID:19339766
Genomewide association studies: history, rationale, and prospects for psychiatric disorders. PMID:19339359
Genes, cognition, and communication: insights from neurodevelopmental disorders. PMID:19338500
The genetics of childhood-onset schizophrenia: when madness strikes the prepubescent. PMID:19302770
Molecular genetics of autism. PMID:19302767
Human genetic variation and its contribution to complex traits. PMID:19293820
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. PMID:19289393
Human copy number polymorphic genes. PMID:19287160
Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus. PMID:19287148
Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus. PMID:19287147
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. PMID:19287140
The role of rare structural variants in the genetics of autism spectrum disorders. PMID:19287137
Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease. PMID:19287135
The dipeptidyl-peptidase-like protein DPP6 determines the unitary conductance of neuronal Kv4.2 channels. PMID:19279261
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. PMID:19267418
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. PMID:19246517
Association and mutation analyses of 16p11.2 autism candidate genes. PMID:19242545
Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population. PMID:19229253
Autism spectrum disorders and childhood-onset schizophrenia: clinical and biological contributions to a relation revisited. PMID:19218893
Copy-number-variation and copy-number-alteration region detection by cumulative plots. PMID:19208171
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. PMID:19181681
A flexible rank-based framework for detecting copy number aberrations from array data. PMID:19176555
Population analysis of large copy number variants and hotspots of human genetic disease. PMID:19166990
Noncoding RNAs in mental retardation. PMID:19159391
[Progress in locating the genetic causes of schizophrenia]. PMID:19132332
MECP2 promoter methylation and X chromosome inactivation in autism. PMID:19132145
A 15q13.3 microdeletion segregating with autism. PMID:19050728
Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites. PMID:19029537
AutDB: a gene reference resource for autism research. PMID:19015121
When linkage signal for autism MET candidate gene. PMID:19002212
Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis. PMID:18992858
Copy number variation and schizophrenia. PMID:18990708
Autism and brain development. PMID:18984148
Autism: many genes, common pathways? PMID:18984147
DPP6 Localization in Brain Supports Function as a Kv4 Channel Associated Protein. PMID:18978958
Disruption of the neurexin 1 gene is associated with schizophrenia. PMID:18945720
Recurrent CNVs disrupt three candidate genes in schizophrenia patients. PMID:18940311
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. PMID:18925931
Neuroligins and neurexins link synaptic function to cognitive disease. PMID:18923512
Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. PMID:18835857
Modeling genetic inheritance of copy number variations. PMID:18832372
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. PMID:18806272
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. PMID:18805830
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. PMID:18728070
Current developments in the genetics of autism: from phenome to genome. PMID:18716561
Autism: Family connections. PMID:18704077
A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation. PMID:18696223
Rare chromosomal deletions and duplications increase risk of schizophrenia. PMID:18668038
Brief Report: Relationship between non-verbal IQ and gender in autism. PMID:18594959
African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. PMID:18593304
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. PMID:18565486
Heterogeneous dysregulation of microRNAs across the autism spectrum. PMID:18563458
The creatine transporter gene paralogous at 16p11.2 is expressed in human brain. PMID:18509488
Regression, developmental trajectory and associated problems in disorders in the autism spectrum: the SNAP study. PMID:18449635
Advances in autism genetics: on the threshold of a new neurobiology. PMID:18414403
The functional impact of structural variation in humans. PMID:18378036

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More detailed information about this field from each metasource.

autistic disorder
metasource: Fairsharing.org
version: FAIRsharing.org: The Autism Chromosome Rearrangement Database; The Autism Chromosome Rearrangement Database; DOI: https://doi.org/10.25504/FAIRsharing.ac329k; Last edited: April 26, 2021, 8:34 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

chromosomal aberration
metasource: Fairsharing.org
version: FAIRsharing.org: The Autism Chromosome Rearrangement Database; The Autism Chromosome Rearrangement Database; DOI: https://doi.org/10.25504/FAIRsharing.ac329k; Last edited: April 26, 2021, 8:34 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

dna microarray
metasource: Fairsharing.org
version: FAIRsharing.org: The Autism Chromosome Rearrangement Database; The Autism Chromosome Rearrangement Database; DOI: https://doi.org/10.25504/FAIRsharing.ac329k; Last edited: April 26, 2021, 8:34 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

disease phenotype
metasource: Fairsharing.org
version: FAIRsharing.org: The Autism Chromosome Rearrangement Database; The Autism Chromosome Rearrangement Database; DOI: https://doi.org/10.25504/FAIRsharing.ac329k; Last edited: April 26, 2021, 8:34 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

gene expression data
metasource: Fairsharing.org
version: FAIRsharing.org: The Autism Chromosome Rearrangement Database; The Autism Chromosome Rearrangement Database; DOI: https://doi.org/10.25504/FAIRsharing.ac329k; Last edited: April 26, 2021, 8:34 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

genetic polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: The Autism Chromosome Rearrangement Database; The Autism Chromosome Rearrangement Database; DOI: https://doi.org/10.25504/FAIRsharing.ac329k; Last edited: April 26, 2021, 8:34 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

genome
metasource: Fairsharing.org
version: FAIRsharing.org: The Autism Chromosome Rearrangement Database; The Autism Chromosome Rearrangement Database; DOI: https://doi.org/10.25504/FAIRsharing.ac329k; Last edited: April 26, 2021, 8:34 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

karyotype
metasource: Fairsharing.org
version: FAIRsharing.org: The Autism Chromosome Rearrangement Database; The Autism Chromosome Rearrangement Database; DOI: https://doi.org/10.25504/FAIRsharing.ac329k; Last edited: April 26, 2021, 8:34 a.m.; Last accessed: Jan 03 2022 7:06 p.m.

human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

gene-, system- or disease-specific databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

asds autism spectrum disorders
metasource: re3data.org
version: re3data.org: Autism Chromosome Rearrangement Database; editing status 2022-03-10; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3CW6F last accessed: 2022-11-04

dna
metasource: re3data.org
version: re3data.org: Autism Chromosome Rearrangement Database; editing status 2022-03-10; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3CW6F last accessed: 2022-11-04

children
metasource: re3data.org
version: re3data.org: Autism Chromosome Rearrangement Database; editing status 2022-03-10; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3CW6F last accessed: 2022-11-04

disease
metasource: re3data.org
version: re3data.org: Autism Chromosome Rearrangement Database; editing status 2022-03-10; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3CW6F last accessed: 2022-11-04

genetics
metasource: re3data.org
version: re3data.org: Autism Chromosome Rearrangement Database; editing status 2022-03-10; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3CW6F last accessed: 2022-11-04

genomics
metasource: re3data.org
version: re3data.org: Autism Chromosome Rearrangement Database; editing status 2022-03-10; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3CW6F last accessed: 2022-11-04

human health
metasource: re3data.org
version: re3data.org: Autism Chromosome Rearrangement Database; editing status 2022-03-10; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3CW6F last accessed: 2022-11-04

neurodevelopmental disorder
metasource: re3data.org
version: re3data.org: Autism Chromosome Rearrangement Database; editing status 2022-03-10; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3CW6F last accessed: 2022-11-04

autistic disorder chromosomal aberration dna microarray disease phenotype gene expression polymorphism genome karyotype human genes and diseases gene-, system- or disease-specific asds autism spectrum disorders dna children disease genetics genomics human health neurodevelopmental disorder

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