Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders. (Q53426251)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29575775%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29575775%20AND%20SRC:MED&resulttype=core&format=json

neurodevelopmental disorder

21 March 2020

main subject

1 reference

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29575775%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Lauren A Weiss

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29575775%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

Aditi Deshpande

series ordinal

1

1 reference

http://europepmc.org/abstract/MED/29575775

14 May 2018

Lauren A Weiss

series ordinal

2

1 reference

http://europepmc.org/abstract/MED/29575775

14 May 2018

publication date

25 March 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29575775%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

number of pages

12

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Developmental Neurobiology

inferred from page(s)

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29575775%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

78

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29575775%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

issue

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29575775%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

519-530

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29575775%20AND%20SRC:MED&resulttype=core&format=json

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

21 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Developmental trajectories for young children with 16p11.2 copy number variation.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Clinical phenotype of the recurrent 1q21.1 copy-number variant

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Effects of copy number variable regions on local gene expression in white blood cells of Mexican Americans

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

A human neurodevelopmental model for Williams syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

7q11.23 Microduplication: a recognizable phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

1q21.1 Microduplication expression in adults

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Genetic architecture of reciprocal CNVs

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Copy number variations in neurodevelopmental disorders

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Behavior, brain, and genome in genomic disorders: finding the correspondences

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

ELN gene triplication responsible for familial supravalvular aortic aneurysm

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Modeling synaptogenesis in schizophrenia and autism using human iPSC derived neurons

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Endocrine dysfunctions in children with Williams-Beuren syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

The Genotype-Tissue Expression (GTEx) project

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

CNVs: harbingers of a rare variant revolution in psychiatric genetics

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Microduplications of 16p11.2 are associated with schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

The Williams syndrome cognitive profile

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

7q11.23 Duplication syndrome: Physical characteristics and natural history.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Evidence that duplications of 22q11.2 protect against schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Analysis of copy number variations at 15 schizophrenia-associated loci.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Mutations in RAI1 associated with Smith-Magenis syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Structural variation in the human genome and its role in disease

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Autism spectrum disorder: neuropathology and animal models

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Positive emotionality is associated with baseline metabolism in orbitofrontal cortex and in regions of the default network

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Obesity in adults with 22q11.2 deletion syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

The genetics of microdeletion and microduplication syndromes: an update.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Role of TBX1 in human del22q11.2 syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Genetics and Genomics of Congenital Heart Disease

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Copy number variation in human health, disease, and evolution

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22587

7 January 2021

Identifiers

DOI

10.1002/DNEU.22587

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29575775%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference