Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families - Test2 - elhamkhani - TriplyDB

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

http://www.wikidata.org/entity/Q34000852

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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology Non-coding genetic variants in human disease.Integrative transcriptome network analysis of iPSC-derived neurons from schizophrenia and schizoaffective disorder patients with 22q11.2 deletion The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.Neurobiology of rodent self-grooming and its value for translational neuroscience DNA double strand break repair, aging and the chromatin connection.Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.Potential molecular consequences of transgene integration: The R6/2 mouse example.Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.Genetic Approaches to Understanding Psychiatric Disease.Bacurd1/Kctd13 and Bacurd2/Tnfaip1 are interacting partners to Rnd proteins which influence the long-term positioning and dendritic maturation of cerebral cortical neurons.Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism.Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.Copy number variation and brain structure: lessons learned from chromosome 16p11.2.Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder.Longitudinal report of child with de novo 16p11.2 triplication.OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.Loss of the Chr16p11.2 ASD candidate gene leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model

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Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

http://www.wikidata.org/entity/Q34000852

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2014 nî lūn-bûn

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2014 թուականի Յունիսին հրատարակուած գիտական յօդուած

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J.AJHG.2014.05.004

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American Journal of Human Genetics

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Aarathi Sugathan

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Ashok Ragavendran

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Ian Blumenthal

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Vanessa C Wheeler

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P2860

Differential expression analysis for sequence count data

WGCNA: an R package for weighted correlation network analysis

Copy-number variations associated with neuropsychiatric conditions

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

KEGG: kyoto encyclopedia of genes and genomes

Cytoscape: a software environment for integrated models of biomolecular interaction networks

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles.

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

Structural variation of chromosomes in autism spectrum disorder

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

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