(Q33851454)

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Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.

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Europe PubMed Central

PubMed publication ID

29 July 2017

Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21. (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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Daria Salyakina

2

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Daria Salyakina

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Margaret A. Pericak-Vance

14

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Margaret A Pericak-Vance

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Holly N Cukier

1

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Jonathan L Haines

11

object named as

Jonathan L Haines

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29 July 2017

author name string

Sarah F Blankstein

3

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29 July 2017

Joycelyn L Robinson

4

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29 July 2017

Stephanie Sacharow

5

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29 July 2017

Deqiong Ma

6

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Europe PubMed Central

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29 July 2017

Harry H Wright

7

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29 July 2017

Ruth K Abramson

8

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29 July 2017

Ramkumar Menon

9

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29 July 2017

Scott M Williams

10

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29 July 2017

Michael L Cuccaro

12

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29 July 2017

John R Gilbert

13

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29 July 2017

publication date

7 April 2011

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29 July 2017

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

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29 July 2017

156B

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29 July 2017

4

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29 July 2017

493-501

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Europe PubMed Central

PubMed publication ID

29 July 2017

Rare structural variation of synapse and neurotransmission genes in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Structural variation in the human genome and its role in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

A genome-wide linkage and association scan reveals novel loci for autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Complex human chromosomal and genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Neurexin 1alpha structural variants associated with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Mapping and sequencing of structural variation from eight human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Structural variation of chromosomes in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Disruption of neurexin 1 associated with autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

PICK1-ICA69 heteromeric BAR domain complex regulates synaptic targeting and surface expression of AMPA receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Characterization of a recurrent 15q24 microdeletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Inviting instability: Transposable elements, double-strand breaks, and the maintenance of genome integrity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Constitutional downregulation of SEMA5A expression in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Semaphorin 7A promotes axon outgrowth through integrins and MAPKs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Cloning and identification of a novel ubiquitin-like protein, BMSC-UbP, from human bone marrow stromal cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Neurexophilins form a conserved family of neuropeptide-like glycoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5490366

5 July 2018

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31188

21 January 2018

A report of three patients with an interstitial deletion of chromosome 15q24.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31188

21 January 2018

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31188

21 January 2018

Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31188

21 January 2018

Identifiers

10.1002/AJMG.B.31188

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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