Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. (Q36096125)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726847%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders (English)

1 reference

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5 February 2020

main subject

autism spectrum disorder

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0 references

1 reference

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5 February 2020

1 reference

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5 February 2020

1 reference

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5 February 2020

Daniel H Geschwind

1 reference

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5 February 2020

Rui Luo

1 reference

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5 February 2020

Yuan Tian

1 reference

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5 February 2020

Ni Huang

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5 February 2020

Chaochao Cai

1 reference

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5 February 2020

Jing Ou

1 reference

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5 February 2020

Jennifer K Lowe

1 reference

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5 February 2020

Matthew E Hurles

1 reference

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5 February 2020

Bernie Devlin

1 reference

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5 February 2020

Matthew W State

1 reference

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5 February 2020

Lambertus Klei

1 reference

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5 February 2020

language of work or name

English

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publication date

21 June 2012

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American Journal of Human Genetics

5 February 2020

published in

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5 February 2020

volume

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5 February 2020

issue

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5 February 2020

page(s)

38-55

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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

5 February 2020

cites work

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De Novo Gene Disruptions in Children on the Autistic Spectrum

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

2 October 2017

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Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

2 October 2017

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

2 October 2017

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Transcriptomic analysis of autistic brain reveals convergent molecular pathology

2 October 2017

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Autism spectrum disorders and autistic traits: A decade of new twin studies

2 October 2017

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2 October 2017

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The effects of EBV transformation on gene expression levels and methylation profiles

2 October 2017

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Food for thought: the importance of glucose and other energy substrates for sustaining brain function under varying levels of activity

2 October 2017

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Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

2 October 2017

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2 October 2017

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Is human blood a good surrogate for brain tissue in transcriptional studies?

2 October 2017

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The Genetics of Child Psychiatric Disorders: Focus on Autism and Tourette Syndrome

2 October 2017

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2 October 2017

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2 October 2017

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An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description

2 October 2017

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Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathways

2 October 2017

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Cognitive and behavioral characterization of 16p11.2 deletion syndrome

2 October 2017

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Genomic analysis of mental illness: a changing landscape

2 October 2017

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

2 October 2017

1 reference

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Accurate distinction of pathogenic from benign CNVs in mental retardation

2 October 2017

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2 October 2017

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

2 October 2017

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2 October 2017

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DARPP-32 binds to tra2-beta1 and influences alternative splicing.

2 October 2017

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The association between autism and errors in early embryogenesis: what is the causal mechanism?

2 October 2017

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

2 October 2017

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Microduplications of 16p11.2 are associated with schizophrenia

2 October 2017

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Origins and functional impact of copy number variation in the human genome

2 October 2017

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An inducible change in Fox-1/A2BP1 splicing modulates the alternative splicing of downstream neuronal target exons

2 October 2017

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2 October 2017

1 reference

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Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397271

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

2 October 2017

1 reference

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Functional and evolutionary insights into human brain development through global transcriptome analysis

2 October 2017

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

2 October 2017

1 reference

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Association and mutation analyses of 16p11.2 autism candidate genes

2 October 2017

1 reference

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

2 October 2017

1 reference

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Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines

2 October 2017

1 reference

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Autism and brain development

2 October 2017

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Autism: many genes, common pathways?

2 October 2017

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Functional organization of the transcriptome in human brain

2 October 2017

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Identifying autism loci and genes by tracing recent shared ancestry

2 October 2017

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Gene expression study on peripheral blood identifies progranulin mutations

2 October 2017

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Advances in autism genetics: on the threshold of a new neurobiology

2 October 2017

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Structural variation of chromosomes in autism spectrum disorder

2 October 2017

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Association between microdeletion and microduplication at 16p11.2 and autism

2 October 2017

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Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

2 October 2017

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Strong association of de novo copy number mutations with autism

2 October 2017

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Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

2 October 2017

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Relative impact of nucleotide and copy number variation on gene expression phenotypes

2 October 2017

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Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

2 October 2017

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Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

2 October 2017

1 reference

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Gene expression omnibus: microarray data storage, submission, retrieval, and analysis

2 October 2017

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Linear models and empirical bayes methods for assessing differential expression in microarray experiments

2 October 2017

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Adjusting batch effects in microarray expression data using empirical Bayes methods

2 October 2017

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Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT

2 October 2017

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

2 October 2017

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Effect of the ubiquitous transcription factors, SP1 and MAZ, on NMDA receptor subunit type 1 (NR1) expression during neuronal differentiation

2 October 2017

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PSK, a novel STE20-like kinase derived from prostatic carcinoma that activates the c-Jun N-terminal kinase mitogen-activated protein kinase pathway and regulates actin cytoskeletal organization

2 October 2017

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Embryological origin for autism: developmental anomalies of the cranial nerve motor nuclei

2 October 2017

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Head circumference reference data: birth to 18 years.

2 October 2017

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Complex segregation analysis of autism

2 October 2017

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2 October 2017

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Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

2 July 2018

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Autism: more evidence of a genetic cause

23 September 2018

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Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

23 September 2018

1 reference

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Segmental copy number variation shapes tissue transcriptomes

23 September 2018

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Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

23 September 2018

1 reference

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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

23 September 2018

1 reference

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Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

23 September 2018

1 reference

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Autism, affective and other psychiatric disorders: patterns of familial aggregation

23 September 2018

1 reference

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10.1016/J.AJHG.2012.05.011

23 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726847%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726847%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

PubMed publication ID

22726847

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22726847%20AND%20SRC:MED&resulttype=core&format=json