De novo mutations revealed by whole-exome sequencing are strongly associated with autism - Wikidata - awgldk - TriplyDB

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

http://www.wikidata.org/entity/Q29547269

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Biomarkers in autism De novo mutations in moderate or severe intellectual disability Effects of increased paternal age on sperm quality, reproductive outcome and associated epigenetic risks to offspring Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice Environmental and state-level regulatory factors affect the incidence of autism and intellectual disability From mouse to human: evolutionary genomics analysis of human orthologs of essential genes Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic Epidemiology Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems Disruptive CHD8 mutations define a subtype of autism early in development CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19 Autism risk factors: genes, environment, and gene-environment interactions Exome sequencing reveals new causal mutations in children with epileptic encephalopathies In search of low-frequency and rare variants affecting complex traits De novo mutations in epileptic encephalopathies Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder Rate of de novo mutations and the importance of father's age to disease risk XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again Identification and Treatment of Pathophysiological Comorbidities of Autism Spectrum Disorder to Achieve Optimal Outcomes.Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder RELN Mutations in Autism Spectrum Disorder Prenatal Neurogenesis in Autism Spectrum Disorders The Increasing Importance of Gene-Based Analyses Synaptic Wnt/GSK3β Signaling Hub in Autism A Short Review on the Current Understanding of Autism Spectrum Disorders Astrocytes and Microglia and Their Potential Link with Autism Spectrum Disorders Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders The developmental transcriptome of the human brain: implications for neurodevelopmental disorders Developments in our understanding of the genetic basis of birth defects The presence, role and clinical use of spermatozoal RNAs Synaptic plasticity, neural circuits, and the emerging role of altered short-term information processing in schizophrenia.Genome-scale neurogenetics: methodology and meaning Obesity in children with autism spectrum disorder

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

http://www.wikidata.org/entity/Q29547269

description

2012 nî lūn-bûn

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2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2012 թվականի ապրիլին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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type

label

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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prefLabel

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

@ast

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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Bilguvar K

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Bjornson RD

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Carriero NJ

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Choi M

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Devlin B

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DiLullo NM

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El-Fishawy P

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Ercan-Sencicek AG

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Geschwind DH

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Gupta AR

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P2860

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

Strong association of de novo copy number mutations with autism

Fast and accurate short read alignment with Burrows-Wheeler transform

A method and server for predicting damaging missense mutations

The Sequence Alignment/Map format and SAMtools

Sodium channels SCN1A, SCN2A and SCN3A in familial autism

Molecular characterization and comparison of the components and multiprotein complexes in the postsynaptic proteome

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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237-41

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10.1038/NATURE10945

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