Excess of rare, inherited truncating mutations in autism. - Wikidata - wikimedia - TriplyDB

Excess of rare, inherited truncating mutations in autism.

Excess of rare, inherited truncating mutations in autism.

http://www.wikidata.org/entity/Q35665894

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Where Do Epigenetics and Developmental Origins Take the Field of Developmental Psychopathology?Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders Genetics and genomics of psychiatric disease Behavioral phenotypes of genetic mouse models of autism.Advancing the understanding of autism disease mechanisms through genetics Wnt signaling networks in autism spectrum disorder and intellectual disability The role of sex-differential biology in risk for autism spectrum disorder A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Low load for disruptive mutations in autism genes and their biased transmission Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development.An Expanded View of Complex Traits: From Polygenic to Omnigenic Can data repositories help find effective treatments for complex diseases?Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.Developmental activities of the complement pathway in migrating neurons.Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.Measuring shared variants in cohorts of discordant siblings with applications to autism Bio-collections in autism research.Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.Mutations in HECW2 are associated with intellectual disability and epilepsy Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders.Are Somatic Mutations in Cortical Development the One Bad Apple That Spoils the Bunch?The Contribution of Mosaic Variants to Autism Spectrum Disorder.CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment.Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder.Genetic research in autism spectrum disorders Genetics and genomics of autism spectrum disorder: embracing complexity.Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.A Statistical Approach for Testing Cross-Phenotype Effects of Rare Variants.Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population VARPRISM: incorporating variant prioritization in tests of de novo mutation association.Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.A systematic variant annotation approach for ranking genes associated with autism spectrum disorders.

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P2860

Excess of rare, inherited truncating mutations in autism.

http://www.wikidata.org/entity/Q35665894

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Excess of rare, inherited truncating mutations in autism.

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Excess of rare, inherited truncating mutations in autism.

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type

label

Excess of rare, inherited truncating mutations in autism.

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Excess of rare, inherited truncating mutations in autism.

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prefLabel

Excess of rare, inherited truncating mutations in autism.

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Excess of rare, inherited truncating mutations in autism.

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Nature Genetics

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Excess of rare, inherited truncating mutations in autism.

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Archana Raja

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Bradley P Coe

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Carl Baker

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Evan E Eichler

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Kali Witherspoon

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Kiana Mohajeri

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Laura Vives

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Niklas Krumm

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Raphael Bernier

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Suzanne M Leal

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P2860

Disruptive CHD8 mutations define a subtype of autism early in development

An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

A novel 4EHP-GIGYF2 translational repressor complex is essential for mammalian development

Functional impact of global rare copy number variation in autism spectrum disorders

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

A unified genetic theory for sporadic and inherited autism

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Synaptic, transcriptional and chromatin genes disrupted in autism

The contribution of de novo coding mutations to autism spectrum disorder

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10.1038/NG.3303

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Holly A Stessman

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2015-05-11T00:00:00Z

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