Patterns and rates of exonic de novo mutations in autism spectrum disorders
about
Lamarckian evolution explains human brain evolution and psychiatric disordersDe novo mutations in moderate or severe intellectual disabilityTranscriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant miceCHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problemsHuman-specific histone methylation signatures at transcription start sites in prefrontal neuronsFrom mouse to human: evolutionary genomics analysis of human orthologs of essential genesMeta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsAssociation claims in the sequencing eraDisruptive CHD8 mutations define a subtype of autism early in developmentCHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitorsDe novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesA SWI/SNF-related autism syndrome caused by de novo mutations in ADNPDe novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeTargeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Autism risk factors: genes, environment, and gene-environment interactionsExome sequencing reveals new causal mutations in children with epileptic encephalopathiesIn search of low-frequency and rare variants affecting complex traitsDe novo mutations in epileptic encephalopathiesRefinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorderRate of de novo mutations and the importance of father's age to disease riskNovel bioinformatic developments for exome sequencingWhole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back AgainWhere Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability DisordersIdentification and Treatment of Pathophysiological Comorbidities of Autism Spectrum Disorder to Achieve Optimal Outcomes.Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing TechnologySomatic mutations in disorders with disrupted brain connectivityThe Evolving Diagnostic and Genetic Landscapes of Autism Spectrum DisorderRELN Mutations in Autism Spectrum DisorderPrenatal Neurogenesis in Autism Spectrum DisordersMutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism EtiologyMoving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disordersBehavioral phenotypes of genetic mouse models of autism.Advancing epilepsy genetics in the genomic eraChromodomain helicase DNA-binding proteins in stem cells and human developmental diseasesThe developmental transcriptome of the human brain: implications for neurodevelopmental disordersSynaptic plasticity, neural circuits, and the emerging role of altered short-term information processing in schizophrenia.Role of nucleosome remodeling in neurodevelopmental and intellectual disability disordersGenome-scale neurogenetics: methodology and meaningMapping mammalian synaptic connectivityBrain-specific transcriptional regulator T-brain-1 controls brain wiring and neuronal activity in autism spectrum disorders
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P2860
Patterns and rates of exonic de novo mutations in autism spectrum disorders
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
Patterns and rates of exonic de novo mutations in autism spectrum disorders
@ast
Patterns and rates of exonic de novo mutations in autism spectrum disorders
@en
Patterns and rates of exonic de novo mutations in autism spectrum disorders
@nl
type
label
Patterns and rates of exonic de novo mutations in autism spectrum disorders
@ast
Patterns and rates of exonic de novo mutations in autism spectrum disorders
@en
Patterns and rates of exonic de novo mutations in autism spectrum disorders
@nl
prefLabel
Patterns and rates of exonic de novo mutations in autism spectrum disorders
@ast
Patterns and rates of exonic de novo mutations in autism spectrum disorders
@en
Patterns and rates of exonic de novo mutations in autism spectrum disorders
@nl
P2093
P2860
P50
P3181
P356
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Patterns and rates of exonic de novo mutations in autism spectrum disorders
@en
P2093
Andrew Kirby
Aniko Sabo
Avi Ma'ayan
Benjamin M Neale
Bernie Devlin
Braden E Boone
Chad Schafer
Chiao-Feng Lin
Christine Stevens
Elaine Lim
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P2888
P3181
P356
10.1038/NATURE11011
P407
P50
P577
2012-04-04T00:00:00Z
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P6179
1021093950