(Q41591288)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25582617%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Increased female autosomal burden of rare copy number variants in human populations and in autism families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25582617%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

0 references

8

1 reference

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27 February 2020

author name string

G Desachy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25582617%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

L A Croen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25582617%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

A R Torres

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25582617%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

M Kharrazi

4

1 reference

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27 February 2020

G N Delorenze

5

1 reference

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27 February 2020

G C Windham

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25582617%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

C K Yoshida

7

1 reference

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27 February 2020

language of work or name

English

0 references

publication date

13 January 2015

1 reference

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27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25582617%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25582617%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

issue

2

1 reference

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27 February 2020

page(s)

170-175

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25582617%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/mp.2014.179

27 February 2020

exact match

0 references

cites work

Structural variation in the human genome and its role in disease

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Rare inherited variation in autism: beginning to see the forest and a few trees

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Pathogenic or not? Assessing the clinical relevance of copy number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

An integrated map of genetic variation from 1,092 human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Maternal mid-pregnancy autoantibodies to fetal brain protein: the early markers for autism study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

A genome-wide survey of transgenerational genetic effects in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Transmission disequilibrium of small CNVs in simplex autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Autism spectrum disorders and autistic like traits: similar etiology in the extreme end and the normal variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

A multivariate twin study of autistic traits in 12-year-olds: testing the fractionable autism triad hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Characteristics and concordance of autism spectrum disorders among 277 twin pairs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Concordance for the syndrome of autism in 40 pairs of afflicted twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Evidence that autistic traits show the same etiology in the general population and at the quantitative extremes (5%, 2.5%, and 1%)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.179

21 January 2018

Identifiers

DOI

10.1038/MP.2014.179

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25582617%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference