scholarly article | Q13442814 |
P50 | author | Elaine Mardis | Q5353251 |
Michael Wigler | Q6835334 | ||
Richard K. Wilson | Q16193441 | ||
Lucinda Fulton | Q28322646 | ||
W. Richard McCombie | Q30361642 | ||
Michael Ronemus | Q56936967 | ||
Mitchell Bekritsky | Q57693491 | ||
Linda H Rodgers | Q61170634 | ||
Michael Schatz | Q100455235 | ||
Ivan Iossifov | Q114431450 | ||
Anthony Leotta | Q114431451 | ||
Jude Kendall | Q114431452 | ||
Jennifer Troge | Q114431453 | ||
Melissa Kramer | Q114439542 | ||
Ryan Demeter | Q117256858 | ||
P2093 | author name string | Dan 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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P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | autism spectrum disorder | Q1436063 |
autism | Q38404 | ||
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Q57793573 | Expression-based drug screening of neural progenitor cells from individuals with schizophrenia |
Q34707985 | FLAGS, frequently mutated genes in public exomes |
Q83225464 | FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory |
Q57285766 | Family-based germline sequencing in children with cancer |
Q34555109 | Fragile X Syndrome: Lessons Learned from the Most Translated Neurodevelopmental Disorder in Clinical Trials |
Q57828399 | Fragile X syndrome |
Q34548559 | Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia |
Q22065247 | From mouse to human: evolutionary genomics analysis of human orthologs of essential genes |
Q92377323 | Functional annotation of de novo variants from healthy individuals |
Q47140291 | Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity. |
Q30363617 | GABA receptor subunit distribution and FMRP-mGluR5 signaling abnormalities in the cerebellum of subjects with schizophrenia, mood disorders, and autism. |
Q35770888 | GABA system dysfunction in autism and related disorders: from synapse to symptoms |
Q48138078 | GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability |
Q36605091 | Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders |
Q36412509 | Gene hunting in autism spectrum disorder: on the path to precision medicine |
Q21131232 | Gene-environment interactions in human health: case studies and strategies for developing new paradigms and research methodologies |
Q47745129 | Gene-set analysis shows association between FMRP targets and autism spectrum disorder |
Q36815646 | Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database |
Q26782594 | Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders |
Q38728415 | Genetic Approaches to Understanding Psychiatric Disease. |
Q92083774 | Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders |
Q59798699 | Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder |
Q35974121 | Genetic Evaluation of Schizophrenia Using the Illumina HumanExome Chip |
Q47560546 | Genetic analysis of very obese children with autism spectrum disorder |
Q38613638 | Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism |
Q27687011 | Genetic aspects of autism spectrum disorders: insights from animal models |
Q30367047 | Genetic assessment of additional endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study. |
Q100737121 | Genetic association of FMRP targets with psychiatric disorders |
Q91151360 | Genetic causes of primary aldosteronism |
Q38216145 | Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era. |
Q26783154 | Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders |
Q34659061 | Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders |
Q26866363 | Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics |
Q89747290 | Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect |
Q92356813 | Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders |
Q36294587 | Genetic research in autism spectrum disorders |
Q33612782 | Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease |
Q57040399 | Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review |
Q55453560 | Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review. |
Q64240282 | Genetics and epigenetics of autism spectrum disorder-current evidence in the field |
Q36363394 | Genetics and genomics of autism spectrum disorder: embracing complexity |
Q47176954 | Genetics of intellectual disability in consanguineous families |
Q33997473 | Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms. |
Q31129974 | Genic intolerance to functional variation and the interpretation of personal genomes |
Q36473412 | Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. |
Q34422838 | Genome sequencing identifies major causes of severe intellectual disability |
Q64883175 | Genome-Wide Changes in Protein Translation Efficiency Are Associated with Autism. |
Q26859474 | Genome-scale neurogenetics: methodology and meaning |
Q36450321 | Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum |
Q30840988 | Genome-wide analysis of differential RNA editing in epilepsy. |
Q40099778 | Genome-wide association analysis identifies common variants influencing infant brain volumes |
Q37692368 | Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort |
Q38940268 | Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci. |
Q28277540 | Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder |
Q36096125 | Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. |
Q36851447 | Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline |
Q43828985 | Genomic Patterns of De Novo Mutation in Simplex Autism. |
Q35477754 | Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability |
Q33772616 | Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. |
Q34101247 | Genomic studies in fragile X premutation carriers. |
Q35543494 | Genomics in neurological disorders |
Q89477347 | Genomics of Autism |
Q55428386 | Genomics of autism spectrum disorder: approach to therapy. |
Q34455135 | Genotype to phenotype relationships in autism spectrum disorders |
Q36891139 | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures |
Q36950681 | Global increases in both common and rare copy number load associated with autism |
Q38184927 | Glutamatergic candidate genes in autism spectrum disorder: an overview |
Q28655218 | Guidelines for investigating causality of sequence variants in human disease |
Q38381562 | HIPred: an integrative approach to predicting haploinsufficient genes |
Q33906995 | Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome |
Q57459335 | Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice |
Q92229343 | Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders |
Q42922212 | Haploinsufficiency predictions without study bias. |
Q36894288 | Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder |
Q41314469 | Heparan sulfate deficiency in autistic postmortem brain tissue from the subventricular zone of the lateral ventricles |
Q64039319 | Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy |
Q41927928 | High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders |
Q38145549 | High-throughput sequencing of autism spectrum disorders comes of age. |
Q47252096 | Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. |
Q42906744 | How much of the variation in the mutation rate along the human genome can be explained? |
Q47108269 | Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. |
Q50307098 | Human genetics: Fruits of exome sequencing for autism. |
Q36844560 | Hunting human disease genes: lessons from the past, challenges for the future. |
Q36249309 | Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders |
Q36645955 | Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders |
Q37383603 | Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. |
Q45935059 | Identification of a candidate mutation in the COL1A2 gene of a Chow Chow with osteogenesis imperfecta. |
Q92182471 | Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy |
Q47804234 | Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing. |
Q47445785 | Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing. |
Q48315981 | Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. |
Q28655709 | Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population |
Q93120066 | Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders |
Q47389273 | Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder |
Q34558247 | Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population |
Q30671413 | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder |
Q60923007 | Identifying Genomic Variations in Monozygotic Twins Discordant for Autism Spectrum Disorder Using Whole-Genome Sequencing |
Q28394808 | Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress |
Q37500060 | Identifying essential cell types and circuits in autism spectrum disorders. |
Q46096712 | Illuminating the genetics of complex human diseases |
Q28540753 | Impairment of translation in neurons as a putative causative factor for autism |
Q37086599 | Inability to activate Rac1-dependent forgetting contributes to behavioral inflexibility in mutants of multiple autism-risk genes |
Q36069265 | Incorporating Functional Information in Tests of Excess De Novo Mutational Load. |
Q92358872 | Increased Ca2+ signaling in NRXN1α +/- neurons derived from ASD induced pluripotent stem cells |
Q35882599 | Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia |
Q37549999 | Increased burden of deleterious variants in essential genes in autism spectrum disorder |
Q37407215 | Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia |
Q36371011 | Increased co-expression of genes harboring the damaging de novo mutations in Chinese schizophrenic patients during prenatal development |
Q41591288 | Increased female autosomal burden of rare copy number variants in human populations and in autism families. |
Q30849515 | Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data |
Q50302965 | Increased paternal age and the influence on burden of genomic copy number variation in the general population. |
Q34435526 | Increasing our understanding of human cognition through the study of Fragile X Syndrome |
Q31142768 | Indel variant analysis of short-read sequencing data with Scalpel. |
Q37057279 | Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay |
Q28943296 | Individual common variants exert weak effects on the risk for autism spectrum disorders |
Q102220241 | Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 |
Q38711009 | Injury-induced maladaptation and dysregulation of calcium channel α2 δ subunit proteins and its contribution to neuropathic pain development. |
Q34495555 | Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci |
Q61855138 | Insights into genetics, human biology and disease gleaned from family based genomic studies |
Q64041297 | Insights into genetics, human biology and disease gleaned from family based genomic studies |
Q35595321 | Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders |
Q35616707 | Integrated genomics identifies convergence of ankylosing spondylitis with global immune mediated disease pathways |
Q34961828 | Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes |
Q30781978 | Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies |
Q36258805 | Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder |
Q31142266 | Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities |
Q41976669 | Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism |
Q37010426 | Intellectual disability is associated with increased runs of homozygosity in simplex autism |
Q39783575 | Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb |
Q44731605 | Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease |
Q39268078 | Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network |
Q37707011 | Investigation of maternal genotype effects in autism by genome-wide association |
Q38175138 | L-type CaV1.2 calcium channels: from in vitro findings to in vivo function. |
Q28081812 | L-type calcium channels as drug targets in CNS disorders |
Q46614754 | Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder |
Q52338839 | Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator. |
Q47073693 | Large-scale discovery of novel genetic causes of developmental disorders |
Q33955116 | Large-scale genomics unveils the genetic architecture of psychiatric disorders |
Q26866506 | Learning and behavioral deficits associated with the absence of the fragile X mental retardation protein: what a fly and mouse model can teach us. |
Q38992291 | Lessons learned from studying syndromic autism spectrum disorders |
Q97555573 | Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders |
Q36443002 | Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders |
Q34573953 | Location-dependent signaling of the group 1 metabotropic glutamate receptor mGlu5. |
Q42542819 | Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network |
Q100433234 | Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD |
Q28655884 | Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology |
Q52684768 | Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series. |
Q35296003 | Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene |
Q57793715 | Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder |
Q41822367 | Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. |
Q28267714 | Low load for disruptive mutations in autism genes and their biased transmission |
Q52692296 | MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. |
Q50420591 | MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. |
Q37624868 | MLPA analysis in a cohort of patients with autism |
Q89945041 | Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia |
Q99572356 | Male preconception antioxidant supplementation may lower autism risk: a call for studies |
Q37424863 | Mammalian FMRP S499 Is Phosphorylated by CK2 and Promotes Secondary Phosphorylation of FMRP. |
Q36473390 | Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. |
Q34372289 | Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients. |
Q38027374 | MicroRNAs: a light into the "black box" of neuropediatric diseases? |
Q26766239 | Microtubule plus-end tracking proteins in neuronal development |
Q60958413 | Modeling Inflammation in Autism Spectrum Disorders Using Stem Cells |
Q38098737 | Modeling autism by SHANK gene mutations in mice |
Q35593898 | Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons |
Q38816786 | Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD. |
Q46696575 | Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome |
Q41595179 | Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region |
Q34063817 | Most genetic risk for autism resides with common variation |
Q28279421 | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders |
Q36587912 | Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation |
Q57300010 | Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis |
Q26770773 | Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology |
Q91775800 | Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis |
Q36473339 | Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy |
Q50305785 | Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. |
Q39804773 | NETWORK ASSISTED ANALYSIS TO REVEAL THE GENETIC BASIS OF AUTISM. |
Q58618789 | NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly |
Q38655437 | NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. |
Q92027490 | Network-Based Integrative Analysis of Genomics, Epigenomics and Transcriptomics in Autism Spectrum Disorders |
Q38667055 | Neuroanatomy of pain-deficiency and cross-modal activation in calcium channel subunit (CACN) α2δ3 knockout mice. |
Q38922216 | Neurocognitive functioning in euthymic patients with bipolar disorder and unaffected relatives: A review of the literature |
Q48149496 | Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system |
Q47706921 | Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity |
Q27001068 | Neurogenomics of speech and language disorders: the road ahead |
Q38154047 | Neuron-specific chromatin remodeling: a missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders |
Q21284779 | Neuropathology and animal models of autism: genetic and environmental factors |
Q37344755 | Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation |
Q36855017 | Neuroscience. The emerging biology of autism spectrum disorders |
Q89477342 | New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder |
Q42428358 | New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy |
Q37331388 | Next-generation sequencing in understanding complex neurological disease |
Q38029472 | Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders |
Q35549243 | No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins |
Q28262977 | Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia |
Q91374383 | Novel genetic link between the ATP-binding cassette subfamily A gene and hippo gene in Drosophila |
Q94654016 | Novel insights into breast cancer copy number genetic heterogeneity revealed by single-cell genome sequencing |
Q38826557 | Novel roles of amyloid-beta precursor protein metabolites in fragile X syndrome and autism. |
Q38215322 | One gene, many neuropsychiatric disorders: lessons from Mendelian diseases. |
Q97531486 | Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders |
Q93132994 | PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors |
Q89091509 | POGZ Is Required for Silencing Mouse Embryonic β-like Hemoglobin and Human Fetal Hemoglobin Expression |
Q36433133 | POGZ truncating alleles cause syndromic intellectual disability. |
Q93025278 | PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features |
Q41209430 | Parental Age and Autism Spectrum Disorders Among New York City Children 0-36 Months of Age. |
Q33625929 | Paternal age and psychiatric disorders: A review |
Q89638994 | Paternal age is affected by genetic abnormalities, perinatal complications and mental health of the offspring |
Q90461518 | Pathogenetical and Neurophysiological Features of Patients with Autism Spectrum Disorder: Phenomena and Diagnoses |
Q34996260 | Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome |
Q34997249 | Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder |
Q35043091 | Performance of case-control rare copy number variation annotation in classification of autism |
Q55279763 | Persistent 6-OH-BDE-47 exposure impairs functional neuronal maturation and alters expression of neurodevelopmentally-relevant chromatin remodelers. |
Q38475657 | Pharmacology of L-type Calcium Channels: Novel Drugs for Old Targets? |
Q38598158 | Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports. |
Q47950653 | Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome. |
Q28771396 | Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures |
Q37198405 | Phosphorylation of Synaptojanin Differentially Regulates Endocytosis of Functionally Distinct Synaptic Vesicle Pools |
Q37592546 | Physiological arousal in autism and fragile X syndrome: group comparisons and links with pragmatic language |
Q37446243 | Post-transcriptional regulatory elements and spatiotemporal specification of neocortical stem cells and projection neurons. |
Q55341233 | Precise temporal regulation of alternative splicing during neural development. |
Q62495272 | Predicting the clinical impact of human mutation with deep neural networks |
Q26750832 | Prenatal Neurogenesis in Autism Spectrum Disorders |
Q60924052 | Prenatal Neuropathologies in Autism Spectrum Disorder and Intellectual Disability: The Gestation of a Comprehensive Zebrafish Model |
Q64080799 | Presynaptic αδ-2 Calcium Channel Subunits Regulate Postsynaptic GABA Receptor Abundance and Axonal Wiring |
Q38991782 | Prevalence and architecture of de novo mutations in developmental disorders |
Q38934791 | Prevalence of four Mendelian disorders associated with autism in 2392 affected families |
Q33830995 | Prioritization of neurodevelopmental disease genes by discovery of new mutations |
Q92524935 | Probing disrupted neurodevelopment in autism using human stem cell-derived neurons and organoids: An outlook into future diagnostics and drug development |
Q47147207 | Progress in Genetic Studies of Tourette's Syndrome |
Q27013601 | Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology |
Q28678675 | Properties and rates of germline mutations in humans |
Q37718255 | Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. |
Q28397228 | Protocadherin α (PCDHA) as a novel susceptibility gene for autism |
Q33922884 | Psychiatric disorders: diagnosis to therapy |
Q27001674 | RNA protein interaction in neurons |
Q42558500 | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease |
Q28275978 | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study |
Q37231388 | Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families |
Q30831794 | Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery. |
Q41854733 | Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome |
Q36733238 | Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders |
Q30362862 | Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. |
Q50301784 | Rare heterozygous truncating variations and risk of autism spectrum disorder: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population. |
Q43117326 | Rare inherited variation in autism: beginning to see the forest and a few trees |
Q55283907 | Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis. |
Q38133704 | Rare-disease genetics in the era of next-generation sequencing: discovery to translation |
Q40120248 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
Q33891684 | Reading and language disorders: the importance of both quantity and quality. |
Q26744368 | Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology |
Q38462559 | Recent advances in the genetics of autism spectrum disorder |
Q33718117 | Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders |
Q92826892 | Recessive gene disruptions in autism spectrum disorder |
Q35945656 | Reciprocal autoregulation by NFI occupancy and ETV1 promotes the developmental expression of dendrite-synapse genes in cerebellar granule neurons |
Q35601122 | Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins |
Q34449179 | Recurrent de novo mutations implicate novel genes underlying simplex autism risk |
Q47125495 | Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. |
Q36116727 | Redefining the MED13L syndrome |
Q89567246 | Reduced structural complexity of the right cerebellar cortex in male children with autism spectrum disorder |
Q30872081 | Reducing INDEL calling errors in whole genome and exome sequencing data |
Q33956672 | Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods |
Q24624740 | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder |
Q34254472 | Refining analyses of copy number variation identifies specific genes associated with developmental delay |
Q38964419 | Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples |
Q90316643 | Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca2+/CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites |
Q38612196 | Regulation of neuronal migration, an emerging topic in autism spectrum disorders |
Q36145999 | Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia |
Q57167282 | Regulatory genes and pathways disrupted in autism spectrum disorders |
Q37617231 | Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder |
Q98223022 | Rescue of oxytocin response and social behaviour in a mouse model of autism |
Q48216131 | Retrograde Synaptic Inhibition Is Mediated by α-Neurexin Binding to the α2δ Subunits of N-Type Calcium Channels. |
Q61814878 | Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach |
Q48018626 | Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations |
Q35939487 | Robust classification of protein variation using structural modelling and large-scale data integration |
Q47874458 | Role of DISC1 interacting proteins in schizophrenia risk from genome-wide analysis of missense SNPs. |
Q36738328 | Role of p53, Mitochondrial DNA Deletions, and Paternal Age in Autism: A Case-Control Study |
Q35150201 | SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. |
Q36022873 | SMASH, a fragmentation and sequencing method for genomic copy number analysis |
Q37590616 | STRIPAK complexes: structure, biological function, and involvement in human diseases |
Q36017094 | Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets |
Q34447169 | Schizophrenia genetics: emerging themes for a complex disorder. |
Q38894128 | Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies. |
Q28543984 | Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase |
Q36909285 | Sequence kernel association tests for the combined effect of rare and common variants |
Q38884466 | Sequencing 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 |
Q33981063 | Sequencing studies in human genetics: design and interpretation. |
Q38326506 | Serotonin dysregulation in Fragile X Syndrome: implications for treatment |
Q34182847 | Sex differences in autism spectrum disorders |
Q35686555 | Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism |
Q39439747 | Sex-specific hippocampal 5-hydroxymethylcytosine is disrupted in response to acute stress |
Q34826822 | Sex/gender differences and autism: setting the scene for future research |
Q36278135 | Shared Pathways Among Autism Candidate Genes Determined by Co-expression Network Analysis of the Developing Human Brain Transcriptome |
Q50034912 | Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap. |
Q64241400 | Significant Strain Variation in the Mutation Spectra of Inbred Laboratory Mice |
Q27333227 | Single-neuron and genetic correlates of autistic behavior in macaque. |
Q58122746 | Social Stimulus Causes Aberrant Activation of the Medial Prefrontal Cortex in a Mouse Model With Autism-Like Behaviors |
Q35164435 | Social visual engagement in infants and toddlers with autism: early developmental transitions and a model of pathogenesis |
Q57804835 | Somatic mosaicism and neurodevelopmental disease |
Q37487752 | Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network |
Q42164701 | Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases |
Q64937673 | Species-Specific Changes in a Primate Transcription Factor Network Provide Insights into the Molecular Evolution of the Primate Prefrontal Cortex. |
Q37281655 | Spermatogonial Stem Cells: Implications for Genetic Disorders and Prevention |
Q38205106 | Statistical power and significance testing in large-scale genetic studies |
Q38314579 | Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders |
Q38689140 | Strength of functional signature correlates with effect size in autism |
Q55113307 | Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex. |
Q33614798 | Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders |
Q34478069 | Structural architecture of SNP effects on complex traits |
Q45022135 | Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014. |
Q36572123 | Support for calcium channel gene defects in autism spectrum disorders |
Q35082678 | SynGAP regulates protein synthesis and homeostatic synaptic plasticity in developing cortical networks |
Q57267880 | Synaptic Disorders |
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