Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. (Q50307016)

http://europepmc.org/abstract/PMC/6003409

30 June 2018

title

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. (English)

1 reference

http://europepmc.org/abstract/PMC/6003409

30 June 2018

main subject

autism spectrum disorder

0 references

0 references

12

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2 June 2020

Eric M. Morrow

19

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2 June 2020

Stephan J. Sanders

2

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Arthur Jeremy Willsey

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Timothy W Yu

11

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Dorothy E Grice

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James S. Sutcliffe

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Daniel Geschwind

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2 June 2020

20

Christopher A Walsh

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16

Catherine Lord

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2 June 2020

15

David H Ledbetter

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2 June 2020

author name string

Pauline Chaste

1

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2 June 2020

Kommu N Mohan

3

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2 June 2020

Youeun Song

5

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2 June 2020

Michael T Murtha

6

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2 June 2020

Vanessa Hus

7

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2 June 2020

Jennifer K Lowe

8

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2 June 2020

Daniel Moreno-De-Luca

10

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2 June 2020

Shrikant M Mane

17

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Donna M Martin

18

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2 June 2020

Matthew W State

22

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2 June 2020

Bernie Devlin

24

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2 June 2020

Arthur L Beaudet

25

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2 June 2020

Soo-Jeong Kim

27

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Lambertus Klei

4

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Christa Lese Martin

23

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2 June 2020

Edwin H Cook

26

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2 June 2020

publication date

12 May 2014

1 reference

http://europepmc.org/abstract/PMC/6003409

30 June 2018

published in

Autism Research

1 reference

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2 June 2020

volume

7

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2 June 2020

issue

3

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2 June 2020

page(s)

355-362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24821083%20AND%20SRC:MED&resulttype=core&format=json

Transmission disequilibrium of small CNVs in simplex autism

2 June 2020

cites work

1 reference

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3 July 2018

1 reference

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Global increases in both common and rare copy number load associated with autism

3 July 2018

1 reference

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3 July 2018

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Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

3 July 2018

1 reference

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Estimates of penetrance for recurrent pathogenic copy-number variations

3 July 2018

1 reference

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Standardizing ADOS domain scores: separating severity of social affect and restricted and repetitive behaviors

3 July 2018

1 reference

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Common genetic variants, acting additively, are a major source of risk for autism

3 July 2018

1 reference

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

3 July 2018

1 reference

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3 July 2018

1 reference

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15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features

3 July 2018

1 reference

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

3 July 2018

1 reference

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Genetic architecture in autism spectrum disorder

3 July 2018

1 reference

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3 July 2018

1 reference

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A copy number variation morbidity map of developmental delay

3 July 2018

1 reference

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

3 July 2018

1 reference

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The Simons Simplex Collection: a resource for identification of autism genetic risk factors

3 July 2018

1 reference

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Phenotypic variability and genetic susceptibility to genomic disorders

3 July 2018

1 reference

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

3 July 2018

1 reference

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Clinical genetic testing for patients with autism spectrum disorders

3 July 2018

1 reference

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A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

3 July 2018

1 reference

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

3 July 2018

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003409

Standardizing ADOS scores for a measure of severity in autism spectrum disorders

3 July 2018

1 reference

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Large recurrent microdeletions associated with schizophrenia

3 July 2018

1 reference

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Identifying autism loci and genes by tracing recent shared ancestry

3 July 2018

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

3 July 2018

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3 July 2018

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3 July 2018

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3 July 2018

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3 July 2018

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3 July 2018

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3 July 2018

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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

14 August 2018

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15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems.

14 August 2018

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Penetrance for copy number variants associated with schizophrenia.

14 August 2018

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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

14 August 2018

1 reference

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Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

14 August 2018

1 reference

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Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.

14 August 2018

1 reference

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14 August 2018

1 reference

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Mental health in the United States: parental report of diagnosed autism in children aged 4-17 years--United States, 2003-2004.

14 August 2018

1 reference

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Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003409

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24821083

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AUR.1378

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24821083%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24821083%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

PubMed publication ID

24821083

1 reference