A high-resolution copy-number variation resource for clinical and population genetics (Q36577115)

15 August 2017

A high-resolution copy-number variation resource for clinical and population genetics (English)

1 reference

15 August 2017

1 reference

4

1 reference

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11 June 2020

Pingzhao Hu

5

1 reference

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11 June 2020

John Wei

7

1 reference

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11 June 2020

Jeffrey R MacDonald

8

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11 June 2020

Giovanna Pellecchia

9

1 reference

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11 June 2020

Chao Lu

10

1 reference

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11 June 2020

John R McLaughlin

13

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11 June 2020

Richard F Wintle

18

1 reference

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11 June 2020

Stephen W. Scherer

22

1 reference

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11 June 2020

15

Irene L Andrulis

1 reference

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11 June 2020

author name string

Mohammed Uddin

1

1 reference

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11 June 2020

Susan Walker

3

1 reference

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11 June 2020

Sylvia Lamoureux

6

1 reference

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11 June 2020

Anath C Lionel

11

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11 June 2020

Matthew J Gazzellone

12

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11 June 2020

Catherine Brown

14

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11 June 2020

Jo-Anne Herbrick

17

1 reference

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11 June 2020

Peter Ray

19

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11 June 2020

Dimitri J Stavropoulos

20

1 reference

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11 June 2020

Christian R Marshall

21

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11 June 2020

Bhooma Thiruvahindrapuram

2

1 reference

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11 June 2020

Julia A Knight

16

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11 June 2020

language of work or name

English

0 references

publication date

11 December 2014

1 reference

15 August 2017

1 reference

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11 June 2020

volume

17

1 reference

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11 June 2020

issue

9

1 reference

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11 June 2020

page(s)

747-752

1 reference

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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

30 September 2017

1 reference

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Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Genetic architecture in autism spectrum disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Integrating common and rare genetic variation in diverse human populations

30 September 2017

1 reference

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

30 September 2017

1 reference

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Clinical genetic testing for patients with autism spectrum disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

The clinical context of copy number variation in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Contemplating effects of genomic structural variation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Copy-number variations associated with neuropsychiatric conditions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the Breast Cancer Family Registry.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Ontario familial colon cancer registry: methods and first-year response rates.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752593

20 September 2018

Identifiers

DOI

10.1038/GIM.2014.178

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25503493%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

0 references

1 reference

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11 June 2020

PubMed publication ID

25503493

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25503493%20AND%20SRC:MED&resulttype=core&format=json