Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. - Wikidata - wikimedia - TriplyDB

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

http://www.wikidata.org/entity/Q40120248

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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Progress in Genetic Studies of Tourette's Syndrome.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.Aging and neurodegeneration are associated with increased mutations in single human neurons.Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.Robust identification of mosaic variants in congenital heart disease.Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs.Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders.Paternal use of antidepressants and offspring outcomes in Sweden: nationwide prospective cohort study.Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.Enabling multiplexed testing of pooled donor cells through whole-genome sequencing.Autism spectrum disorder: prospects for treatment using gene therapy.Associations of perceived norms with intentions to learn genomic sequencing results: Roles for attitudes and ambivalence.Genomics of autism spectrum disorder: approach to therapy.Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder Genomics in neurodevelopmental disorders: an avenue to personalized medicine

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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

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Rates, distribution and implic ...... s in autism spectrum disorder.

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Alexander Kolevzon

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Alissa M D'Gama

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Andreas G Chiocchetti

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Anne S Kamumbu

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Arthur P Goldberg

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Autism Sequencing Consortium

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Branko Aleksic

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Celso Arango

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Christine M Freitag

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Christopher A Walsh

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P2860

A calcium-dependent switch in a CREST-BRG1 complex regulates activity-dependent gene expression

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

A map of human genome variation from population-scale sequencing

A comprehensive catalogue of somatic mutations from a human cancer genome

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

Strong association of de novo copy number mutations with autism

Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.

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/NN.4598

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Angel Carracedo

Joseph D. Buxbaum

George M. Church

Nancy J Minshew

Christina M. Hultman

Stephen W. Scherer

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2017-07-17T00:00:00Z

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Autism spectrum

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