De Novo Gene Disruptions in Children on the Autistic Spectrum

scientific article (publication date: April 2012)

De Novo Gene Disruptions in Children on the Autistic Spectrum is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.NEURON.2012.04.009
P3181OpenCitations bibliographic resource ID304954
P932PMC publication ID3619976
P698PubMed publication ID22542183
P5875ResearchGate publication ID224865971

P50authorElaine MardisQ5353251
Michael WiglerQ6835334
Richard K. WilsonQ16193441
Lucinda FultonQ28322646
W. Richard McCombieQ30361642
Michael RonemusQ56936967
Mitchell BekritskyQ57693491
Linda H RodgersQ61170634
Michael SchatzQ100455235
Ivan IossifovQ114431450
Anthony LeottaQ114431451
Jude KendallQ114431452
Jennifer TrogeQ114431453
Melissa KramerQ114439542
Ryan DemeterQ117256858
P2093author name stringDan Levy
Beicong Ma
Robert S Fulton
Jennifer C Darnell
Robert B Darnell
Boris Yamrom
Kenny Ye
Steven Marks
Peter Andrews
Jennifer Parla
Ewa Grabowska
Inessa Hakker
Julie Rosenbaum
Zihua Wang
Giuseppe Narzisi
Kith Pradhan
Yoon-Ha Lee
Asya Stepansky
Elena Ghiban
Vincent J Magrini
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RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zoneQ28215837
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RIM1alpha is required for presynaptic long-term potentiationQ28508676
Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complexQ28513908
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with AutismQ29013643
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutationsQ29030218
Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum DisordersQ29394511
De novo mutations revealed by whole-exome sequencing are strongly associated with autismQ29547269
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutationsQ29614573
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Exome sequencing supports a de novo mutational paradigm for schizophrenia.Q30405748
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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersQ34401694
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapsesQ34630019
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndromeQ34768405
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disordersQ35155976
Mutations causing syndromic autism define an axis of synaptic pathophysiologyQ35587150
Network properties of genes harboring inherited disease mutationsQ36670355
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H3K27 demethylases, at long lastQ36965110
GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesisQ39859217
Drosophila ankyrin 2 is required for synaptic stabilityQ46624693
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.Q51815976
A de novo paradigm for mental retardation.Q51828800
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectautism spectrum disorderQ1436063
autismQ38404
P304page(s)285-299
P577publication date2012-04-01
P1433published inNeuronQ3338676
P1476titleDe novo gene disruptions in children on the autistic spectrum
P478volume74

Reverse relations

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Q30367047Genetic assessment of additional endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study.
Q100737121Genetic association of FMRP targets with psychiatric disorders
Q91151360Genetic causes of primary aldosteronism
Q38216145Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.
Q26783154Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders
Q34659061Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders
Q26866363Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics
Q89747290Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect
Q92356813Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders
Q36294587Genetic research in autism spectrum disorders
Q33612782Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease
Q57040399Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review
Q55453560Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.
Q64240282Genetics and epigenetics of autism spectrum disorder-current evidence in the field
Q36363394Genetics and genomics of autism spectrum disorder: embracing complexity
Q47176954Genetics of intellectual disability in consanguineous families
Q33997473Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms.
Q31129974Genic intolerance to functional variation and the interpretation of personal genomes
Q36473412Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Q34422838Genome sequencing identifies major causes of severe intellectual disability
Q64883175Genome-Wide Changes in Protein Translation Efficiency Are Associated with Autism.
Q26859474Genome-scale neurogenetics: methodology and meaning
Q36450321Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum
Q30840988Genome-wide analysis of differential RNA editing in epilepsy.
Q40099778Genome-wide association analysis identifies common variants influencing infant brain volumes
Q37692368Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort
Q38940268Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci.
Q28277540Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder
Q36096125Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.
Q36851447Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline
Q43828985Genomic Patterns of De Novo Mutation in Simplex Autism.
Q35477754Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
Q33772616Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.
Q34101247Genomic studies in fragile X premutation carriers.
Q35543494Genomics in neurological disorders
Q89477347Genomics of Autism
Q55428386Genomics of autism spectrum disorder: approach to therapy.
Q34455135Genotype to phenotype relationships in autism spectrum disorders
Q36891139Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Q36950681Global increases in both common and rare copy number load associated with autism
Q38184927Glutamatergic candidate genes in autism spectrum disorder: an overview
Q28655218Guidelines for investigating causality of sequence variants in human disease
Q38381562HIPred: an integrative approach to predicting haploinsufficient genes
Q33906995Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome
Q57459335Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice
Q92229343Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
Q42922212Haploinsufficiency predictions without study bias.
Q36894288Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder
Q41314469Heparan sulfate deficiency in autistic postmortem brain tissue from the subventricular zone of the lateral ventricles
Q64039319Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Q41927928High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders
Q38145549High-throughput sequencing of autism spectrum disorders comes of age.
Q47252096Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Q42906744How much of the variation in the mutation rate along the human genome can be explained?
Q47108269Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism.
Q50307098Human genetics: Fruits of exome sequencing for autism.
Q36844560Hunting human disease genes: lessons from the past, challenges for the future.
Q36249309Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
Q36645955Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders
Q37383603Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Q45935059Identification of a candidate mutation in the COL1A2 gene of a Chow Chow with osteogenesis imperfecta.
Q92182471Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy
Q47804234Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing.
Q47445785Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.
Q48315981Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
Q28655709Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population
Q93120066Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders
Q47389273Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder
Q34558247Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population
Q30671413Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder
Q60923007Identifying Genomic Variations in Monozygotic Twins Discordant for Autism Spectrum Disorder Using Whole-Genome Sequencing
Q28394808Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress
Q37500060Identifying essential cell types and circuits in autism spectrum disorders.
Q46096712Illuminating the genetics of complex human diseases
Q28540753Impairment of translation in neurons as a putative causative factor for autism
Q37086599Inability to activate Rac1-dependent forgetting contributes to behavioral inflexibility in mutants of multiple autism-risk genes
Q36069265Incorporating Functional Information in Tests of Excess De Novo Mutational Load.
Q92358872Increased Ca2+ signaling in NRXN1α +/- neurons derived from ASD induced pluripotent stem cells
Q35882599Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia
Q37549999Increased burden of deleterious variants in essential genes in autism spectrum disorder
Q37407215Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
Q36371011Increased co-expression of genes harboring the damaging de novo mutations in Chinese schizophrenic patients during prenatal development
Q41591288Increased female autosomal burden of rare copy number variants in human populations and in autism families.
Q30849515Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data
Q50302965Increased paternal age and the influence on burden of genomic copy number variation in the general population.
Q34435526Increasing our understanding of human cognition through the study of Fragile X Syndrome
Q31142768Indel variant analysis of short-read sequencing data with Scalpel.
Q37057279Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
Q28943296Individual common variants exert weak effects on the risk for autism spectrum disorders
Q102220241Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Q38711009Injury-induced maladaptation and dysregulation of calcium channel α2 δ subunit proteins and its contribution to neuropathic pain development.
Q34495555Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Q61855138Insights into genetics, human biology and disease gleaned from family based genomic studies
Q64041297Insights into genetics, human biology and disease gleaned from family based genomic studies
Q35595321Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
Q35616707Integrated genomics identifies convergence of ankylosing spondylitis with global immune mediated disease pathways
Q34961828Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
Q30781978Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies
Q36258805Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder
Q31142266Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities
Q41976669Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
Q37010426Intellectual disability is associated with increased runs of homozygosity in simplex autism
Q39783575Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb
Q44731605Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease
Q39268078Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
Q37707011Investigation of maternal genotype effects in autism by genome-wide association
Q38175138L-type CaV1.2 calcium channels: from in vitro findings to in vivo function.
Q28081812L-type calcium channels as drug targets in CNS disorders
Q46614754Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder
Q52338839Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.
Q47073693Large-scale discovery of novel genetic causes of developmental disorders
Q33955116Large-scale genomics unveils the genetic architecture of psychiatric disorders
Q26866506Learning and behavioral deficits associated with the absence of the fragile X mental retardation protein: what a fly and mouse model can teach us.
Q38992291Lessons learned from studying syndromic autism spectrum disorders
Q97555573Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders
Q36443002Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders
Q34573953Location-dependent signaling of the group 1 metabotropic glutamate receptor mGlu5.
Q42542819Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network
Q100433234Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD
Q28655884Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology
Q52684768Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
Q35296003Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene
Q57793715Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder
Q41822367Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.
Q28267714Low load for disruptive mutations in autism genes and their biased transmission
Q52692296MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
Q50420591MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Q37624868MLPA analysis in a cohort of patients with autism
Q89945041Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia
Q99572356Male preconception antioxidant supplementation may lower autism risk: a call for studies
Q37424863Mammalian FMRP S499 Is Phosphorylated by CK2 and Promotes Secondary Phosphorylation of FMRP.
Q36473390Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
Q34372289Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.
Q38027374MicroRNAs: a light into the "black box" of neuropediatric diseases?
Q26766239Microtubule plus-end tracking proteins in neuronal development
Q60958413Modeling Inflammation in Autism Spectrum Disorders Using Stem Cells
Q38098737Modeling autism by SHANK gene mutations in mice
Q35593898Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
Q38816786Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD.
Q46696575Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome
Q41595179Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region
Q34063817Most genetic risk for autism resides with common variation
Q28279421Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
Q36587912Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation
Q57300010Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis
Q26770773Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology
Q91775800Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis
Q36473339Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy
Q50305785Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.
Q39804773NETWORK ASSISTED ANALYSIS TO REVEAL THE GENETIC BASIS OF AUTISM.
Q58618789NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
Q38655437NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.
Q92027490Network-Based Integrative Analysis of Genomics, Epigenomics and Transcriptomics in Autism Spectrum Disorders
Q38667055Neuroanatomy of pain-deficiency and cross-modal activation in calcium channel subunit (CACN) α2δ3 knockout mice.
Q38922216Neurocognitive functioning in euthymic patients with bipolar disorder and unaffected relatives: A review of the literature
Q48149496Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system
Q47706921Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity
Q27001068Neurogenomics of speech and language disorders: the road ahead
Q38154047Neuron-specific chromatin remodeling: a missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders
Q21284779Neuropathology and animal models of autism: genetic and environmental factors
Q37344755Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation
Q36855017Neuroscience. The emerging biology of autism spectrum disorders
Q89477342New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder
Q42428358New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy
Q37331388Next-generation sequencing in understanding complex neurological disease
Q38029472Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
Q35549243No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins
Q28262977Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia
Q91374383Novel genetic link between the ATP-binding cassette subfamily A gene and hippo gene in Drosophila
Q94654016Novel insights into breast cancer copy number genetic heterogeneity revealed by single-cell genome sequencing
Q38826557Novel roles of amyloid-beta precursor protein metabolites in fragile X syndrome and autism.
Q38215322One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.
Q97531486Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders
Q93132994PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors
Q89091509POGZ Is Required for Silencing Mouse Embryonic β-like Hemoglobin and Human Fetal Hemoglobin Expression
Q36433133POGZ truncating alleles cause syndromic intellectual disability.
Q93025278PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features
Q41209430Parental Age and Autism Spectrum Disorders Among New York City Children 0-36 Months of Age.
Q33625929Paternal age and psychiatric disorders: A review
Q89638994Paternal age is affected by genetic abnormalities, perinatal complications and mental health of the offspring
Q90461518Pathogenetical and Neurophysiological Features of Patients with Autism Spectrum Disorder: Phenomena and Diagnoses
Q34996260Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome
Q34997249Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder
Q35043091Performance of case-control rare copy number variation annotation in classification of autism
Q55279763Persistent 6-OH-BDE-47 exposure impairs functional neuronal maturation and alters expression of neurodevelopmentally-relevant chromatin remodelers.
Q38475657Pharmacology of L-type Calcium Channels: Novel Drugs for Old Targets?
Q38598158Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.
Q47950653Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.
Q28771396Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures
Q37198405Phosphorylation of Synaptojanin Differentially Regulates Endocytosis of Functionally Distinct Synaptic Vesicle Pools
Q37592546Physiological arousal in autism and fragile X syndrome: group comparisons and links with pragmatic language
Q37446243Post-transcriptional regulatory elements and spatiotemporal specification of neocortical stem cells and projection neurons.
Q55341233Precise temporal regulation of alternative splicing during neural development.
Q62495272Predicting the clinical impact of human mutation with deep neural networks
Q26750832Prenatal Neurogenesis in Autism Spectrum Disorders
Q60924052Prenatal Neuropathologies in Autism Spectrum Disorder and Intellectual Disability: The Gestation of a Comprehensive Zebrafish Model
Q64080799Presynaptic αδ-2 Calcium Channel Subunits Regulate Postsynaptic GABA Receptor Abundance and Axonal Wiring
Q38991782Prevalence and architecture of de novo mutations in developmental disorders
Q38934791Prevalence of four Mendelian disorders associated with autism in 2392 affected families
Q33830995Prioritization of neurodevelopmental disease genes by discovery of new mutations
Q92524935Probing disrupted neurodevelopment in autism using human stem cell-derived neurons and organoids: An outlook into future diagnostics and drug development
Q47147207Progress in Genetic Studies of Tourette's Syndrome
Q27013601Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology
Q28678675Properties and rates of germline mutations in humans
Q37718255Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
Q28397228Protocadherin α (PCDHA) as a novel susceptibility gene for autism
Q33922884Psychiatric disorders: diagnosis to therapy
Q27001674RNA protein interaction in neurons
Q42558500RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease
Q28275978Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Q37231388Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
Q30831794Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.
Q41854733Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome
Q36733238Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
Q30362862Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
Q50301784Rare heterozygous truncating variations and risk of autism spectrum disorder: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population.
Q43117326Rare inherited variation in autism: beginning to see the forest and a few trees
Q55283907Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis.
Q38133704Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Q40120248Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Q33891684Reading and language disorders: the importance of both quantity and quality.
Q26744368Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology
Q38462559Recent advances in the genetics of autism spectrum disorder
Q33718117Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders
Q92826892Recessive gene disruptions in autism spectrum disorder
Q35945656Reciprocal autoregulation by NFI occupancy and ETV1 promotes the developmental expression of dendrite-synapse genes in cerebellar granule neurons
Q35601122Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins
Q34449179Recurrent de novo mutations implicate novel genes underlying simplex autism risk
Q47125495Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
Q36116727Redefining the MED13L syndrome
Q89567246Reduced structural complexity of the right cerebellar cortex in male children with autism spectrum disorder
Q30872081Reducing INDEL calling errors in whole genome and exome sequencing data
Q33956672Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods
Q24624740Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
Q34254472Refining analyses of copy number variation identifies specific genes associated with developmental delay
Q38964419Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Q90316643Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca2+/CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites
Q38612196Regulation of neuronal migration, an emerging topic in autism spectrum disorders
Q36145999Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia
Q57167282Regulatory genes and pathways disrupted in autism spectrum disorders
Q37617231Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder
Q98223022Rescue of oxytocin response and social behaviour in a mouse model of autism
Q48216131Retrograde Synaptic Inhibition Is Mediated by α-Neurexin Binding to the α2δ Subunits of N-Type Calcium Channels.
Q61814878Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach
Q48018626Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations
Q35939487Robust classification of protein variation using structural modelling and large-scale data integration
Q47874458Role of DISC1 interacting proteins in schizophrenia risk from genome-wide analysis of missense SNPs.
Q36738328Role of p53, Mitochondrial DNA Deletions, and Paternal Age in Autism: A Case-Control Study
Q35150201SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.
Q36022873SMASH, a fragmentation and sequencing method for genomic copy number analysis
Q37590616STRIPAK complexes: structure, biological function, and involvement in human diseases
Q36017094Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets
Q34447169Schizophrenia genetics: emerging themes for a complex disorder.
Q38894128Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies.
Q28543984Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase
Q36909285Sequence kernel association tests for the combined effect of rare and common variants
Q38884466Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder
Q33981063Sequencing studies in human genetics: design and interpretation.
Q38326506Serotonin dysregulation in Fragile X Syndrome: implications for treatment
Q34182847Sex differences in autism spectrum disorders
Q35686555Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism
Q39439747Sex-specific hippocampal 5-hydroxymethylcytosine is disrupted in response to acute stress
Q34826822Sex/gender differences and autism: setting the scene for future research
Q36278135Shared Pathways Among Autism Candidate Genes Determined by Co-expression Network Analysis of the Developing Human Brain Transcriptome
Q50034912Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.
Q64241400Significant Strain Variation in the Mutation Spectra of Inbred Laboratory Mice
Q27333227Single-neuron and genetic correlates of autistic behavior in macaque.
Q58122746Social Stimulus Causes Aberrant Activation of the Medial Prefrontal Cortex in a Mouse Model With Autism-Like Behaviors
Q35164435Social visual engagement in infants and toddlers with autism: early developmental transitions and a model of pathogenesis
Q57804835Somatic mosaicism and neurodevelopmental disease
Q37487752Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network
Q42164701Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases
Q64937673Species-Specific Changes in a Primate Transcription Factor Network Provide Insights into the Molecular Evolution of the Primate Prefrontal Cortex.
Q37281655Spermatogonial Stem Cells: Implications for Genetic Disorders and Prevention
Q38205106Statistical power and significance testing in large-scale genetic studies
Q38314579Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders
Q38689140Strength of functional signature correlates with effect size in autism
Q55113307Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex.
Q33614798Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders
Q34478069Structural architecture of SNP effects on complex traits
Q45022135Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014.
Q36572123Support for calcium channel gene defects in autism spectrum disorders
Q35082678SynGAP regulates protein synthesis and homeostatic synaptic plasticity in developing cortical networks
Q57267880Synaptic Disorders
Q91174762Synaptic Formation, Neural Circuits and Neurodevelopmental Disorders Controlled by Signaling, Translation, and Epigenetic Regulation
Q92065725Synaptic and brain-expressed gene sets relate to the shared genetic risk across five psychiatric disorders
Q26829347Synaptic plasticity, neural circuits, and the emerging role of altered short-term information processing in schizophrenia
Q28250800Synaptic, transcriptional and chromatin genes disrupted in autism
Q35079596Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly
Q52322862Systematic reconstruction of autism biology from massive genetic mutation profiles.
Q36424672Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
Q40183800Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease
Q39054408T-Brain-1--A Potential Master Regulator in Autism Spectrum Disorders
Q37148636TBR1 regulates autism risk genes in the developing neocortex
Q36802204Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
Q34315110Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis
Q35857541Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants
Q41918662Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders
Q28585096Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality
Q36184569Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
Q52691528Thalamic Reticular Dysfunction as a Circuit Endophenotype in Neurodevelopmental Disorders.
Q89207617The ASD Living Biology: from cell proliferation to clinical phenotype
Q34495864The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses
Q36134616The Contribution of Mosaic Variants to Autism Spectrum Disorder
Q50126700The DNA double-strand "breakome" of mouse spermatids.
Q56770872The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications
Q91971978The Drosophila Gene Sulfateless Modulates Autism-Like Behaviors
Q26747333The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder
Q27014002The FMRP regulon: from targets to disease convergence
Q56786104The Genetic Basis of Autism Spectrum Disorder
Q35762251The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity
Q26773081The Involvement of Neuron-Specific Factors in Dendritic Spinogenesis: Molecular Regulation and Association with Neurological Disorders
Q26781422The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential
Q47329879The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability
Q93085468The Right Tools for the Right Job: CRISPR-pass Could Offer Safe Gene Correction for Many Disorders
Q90621187The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
Q44546317The Top3β way to untangle RNA.
Q48284187The Unique Evolutionary Signature of Genes Associated with Autism Spectrum Disorder.
Q31166205The Weighting is the Hardest Part: On the Behavior of the Likelihood Ratio Test and the Score Test Under a Data-Driven Weighting Scheme in Sequenced Samples
Q30559475The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders
Q34466281The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
Q28069344The bowel and beyond: the enteric nervous system in neurological disorders
Q37598441The challenges of clinical trials in fragile X syndrome
Q50312020The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?
Q28250812The contribution of de novo coding mutations to autism spectrum disorder
Q26824947The developmental transcriptome of the human brain: implications for neurodevelopmental disorders
Q35049391The discovery of integrated gene networks for autism and related disorders
Q35108676The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level
Q36799924The expanding genomic landscape of autism: discovering the 'forest' beyond the 'trees'
Q35599644The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.
Q36647173The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture
Q37640927The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Q35451156The guanine nucleotide exchange factor (GEF) Asef2 promotes dendritic spine formation via Rac activation and spinophilin-dependent targeting
Q33764400The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism
Q50313452The implications of de novo coding mutations in simplex autism families.
Q47223785The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders
Q37672566The next-generation sequencing revolution and its impact on genomics
Q61797560The novel lncRNA is pro-neurogenic and mutated in human neurodevelopmental disorders
Q27010529The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective
Q38178892The role of de novo mutations in the genetics of autism spectrum disorders
Q90728372The role of genetics and genomics in clinical psychiatry
Q28077103The role of sex-differential biology in risk for autism spectrum disorder
Q37298146The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies
Q37699973The sacred disease: the puzzling genetics of epileptic disorders
Q26851725The sodium leak channel, NALCN, in health and disease
Q30765921The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors
Q56993317The total burden of rare, non-synonymous exome genetic variants is not associated with childhood or late-life cognitive ability
Q27025923The unstable repeats--three evolving faces of neurological disease
Q38368547The use of stem cells to study autism spectrum disorder
Q27337360Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back
Q36071509Thoughts about sex and gender differences from the next generation of autism scientists
Q42183670Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy
Q37368860Top3β is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation
Q36032196Topoisomerase 1 Regulates Gene Expression in Neurons through Cleavage Complex-Dependent and -Independent Mechanisms.
Q34661252Topoisomerase 1 inhibition reversibly impairs synaptic function.
Q33557603Topoisomerase 3β is the major topoisomerase for mRNAs and linked to neurodevelopment and mental dysfunction
Q96609288Topoisomerase 3β knockout mice show transcriptional and behavioural impairments associated with neurogenesis and synaptic plasticity
Q39001014Topoisomerase I inhibition leads to length-dependent gene expression changes in human primary astrocytes.
Q37156727Topoisomerases facilitate transcription of long genes linked to autism
Q33840498Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach.
Q30451842Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders
Q21198691Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice
Q34000852Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families
Q33931065Transcriptional dysregulation of neocortical circuit assembly in ASD
Q90285687Transcriptional network analysis on brains reveals a potential regulatory role of PPP1R3F in autism spectrum disorders
Q37349886Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia
Q34731122Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism
Q89723330Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder
Q49337186Translating genetic and preclinical findings into autism therapies.
Q38180160Translating human genetics into mouse: the impact of ultra-rapid in vivo genome editing
Q36424785Translational Concepts of mGluR5 in Synaptic Diseases of the Brain
Q37217049Transmission disequilibrium of small CNVs in simplex autism
Q27000307Treatment of neurodevelopmental disorders in adulthood
Q38324675Treatment of the psychiatric problems associated with fragile X syndrome
Q48303674Treatments: In the waiting room.
Q36671212Truncating mutation in NFIA causes brain malformation and urinary tract defects
Q37284354Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
Q41259219Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
Q48112029Type IA topoisomerases can be "magicians" for both DNA and RNA in all domains of life.
Q36729643Understanding sex bias in autism spectrum disorder
Q38777978Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops
Q38199867Unlocking the treasure trove: from genes to schizophrenia biology
Q38055982Unraveling the genetics of common epilepsies: approaches, platforms, and caveats
Q38603105Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
Q38964644Using Induced Pluripotent Stem Cells to Investigate Complex Genetic Psychiatric Disorders
Q30418126Using whole-exome sequencing to identify inherited causes of autism
Q37203416VARPRISM: incorporating variant prioritization in tests of de novo mutation association
Q36708176VCP and ATL1 regulate endoplasmic reticulum and protein synthesis for dendritic spine formation
Q34030865Validation and assessment of variant calling pipelines for next-generation sequencing
Q48277609Vitamin D-related genes are subjected to significant de novo mutation burdens in autism spectrum disorder
Q37298134Voltage-gated calcium channels and their auxiliary subunits: physiology and pathophysiology and pharmacology
Q45945798When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
Q36301311Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Q33916084Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
Q35767690Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders
Q47549673Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.
Q36762370Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
Q36915542Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways
Q36686140Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Q30827085Whole-genome analyses of whole-brain data: working within an expanded search space
Q28706284Whole-genome sequencing in an autism multiplex family
Q37016817Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
Q58694801Widespread Genotype-Phenotype Correlations in Intellectual Disability
Q90597084Widespread RNA editing dysregulation in brains from autistic individuals
Q36277086Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder
Q28118573X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Q24632796XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
Q89876748ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum
Q33919340iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth
Q30450936mGluR5 ablation in cortical glutamatergic neurons increases novelty-induced locomotion
Q50356013α2δ3 is essential for normal structure and function of auditory nerve synapses and is a novel candidate for auditory processing disorders.

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