High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. (Q33480832)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19592680%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications (English)

1 reference

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2 February 2020

4

1 reference

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2 February 2020

Hongbo M. Xie

5

1 reference

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2 February 2020

Monica D'Arcy

10

1 reference

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2 February 2020

Struan F.A. Grant

35

1 reference

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2 February 2020

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Elizabeth Goldmuntz

1 reference

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2 February 2020

14

Marcin Imielinski

1 reference

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2 February 2020

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Hakon Hakonarson

1 reference

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2 February 2020

1

Tamim H Shaikh

1 reference

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2 February 2020

2

Xiaowu Gai

1 reference

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2 February 2020

3

Juan C Perin

1 reference

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2 February 2020

8

Tracy Casalunovo

1 reference

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2 February 2020

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Laura K Conlin

1 reference

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2 February 2020

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Edward C Frackelton

1 reference

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2 February 2020

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Kiran Annaiah

1 reference

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2 February 2020

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Jonathan P Bradfield

1 reference

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2 February 2020

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Andrew Eckert

1 reference

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2 February 2020

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Chioma C Onyiah

1 reference

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2 February 2020

George Otieno Ong'amo

23

object named as

F George Otieno

1 reference

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2 February 2020

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Julie L Shaner

1 reference

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2 February 2020

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Robert Skraban

1 reference

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2 February 2020

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Nancy B Spinner

1 reference

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2 February 2020

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Elaine H Zackai

1 reference

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2 February 2020

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Rosetta M Chiavacci

1 reference

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2 February 2020

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Robert Grundmeier

1 reference

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2 February 2020

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Eric F Rappaport

1 reference

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2 February 2020

author name string

Kevin Murphy

6

1 reference

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2 February 2020

Ryan O'Hara

7

1 reference

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2 February 2020

Elizabeth A Geiger

12

1 reference

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2 February 2020

Chad Haldeman-Englert

13

1 reference

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2 February 2020

Cecilia E Kim

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2 February 2020

Livija Medne

16

1 reference

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2 February 2020

Elvira Dabaghyan

19

1 reference

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2 February 2020

Svetlana Ostapenko

22

1 reference

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2 February 2020

Erin Santa

24

1 reference

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2 February 2020

Ryan M Smith

27

1 reference

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2 February 2020

Josephine Elia

28

1 reference

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2 February 2020

Peter S White

36

1 reference

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2 February 2020

publication date

10 July 2009

1 reference

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2 February 2020

1 reference

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2 February 2020

volume

19

1 reference

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2 February 2020

page(s)

1682-1690

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2 February 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19592680%20AND%20SRC:MED&resulttype=core&format=json

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

2 February 2020

cites work

1 reference

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Large recurrent microdeletions associated with schizophrenia

21 June 2018

1 reference

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Rare chromosomal deletions and duplications increase risk of schizophrenia

21 June 2018

1 reference

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Strong association of de novo copy number mutations with sporadic schizophrenia

21 June 2018

1 reference

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Mapping and sequencing of structural variation from eight human genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752118

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 June 2018

1 reference

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The fine-scale and complex architecture of human copy-number variation

21 June 2018

1 reference

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 June 2018

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A second generation human haplotype map of over 3.1 million SNPs

21 June 2018

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A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

21 June 2018

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Genomic rearrangements and sporadic disease

21 June 2018

1 reference

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Strong association of de novo copy number mutations with autism

21 June 2018

1 reference

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A comprehensive analysis of common copy-number variations in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752118

Global variation in copy number in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752118

Copy number variation: new insights in genome diversity

21 June 2018

1 reference

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

21 June 2018

1 reference

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Structural variation in the human genome

21 June 2018

1 reference

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Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine

21 June 2018

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Segmental duplications and copy-number variation in the human genome

21 June 2018

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Detection of large-scale variation in the human genome

21 June 2018

1 reference

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Large-scale copy number polymorphism in the human genome

21 June 2018

1 reference

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The International HapMap Project

21 June 2018

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Genomic microarrays in human genetic disease and cancer

21 June 2018

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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.

21 June 2018

1 reference

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Common deletion polymorphisms in the human genome.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752118

Whole-genome genotyping with the single-base extension assay

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752118

A genome-wide scalable SNP genotyping assay using microarray technology

31 October 2018

1 reference

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Common deletions and SNPs are in linkage disequilibrium in the human genome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752118

A high-resolution survey of deletion polymorphism in the human genome

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19592680

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.083501.108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19592680%20AND%20SRC:MED&resulttype=core&format=json

release_wyydwy7ejbaolleydrjvcgduaq

2 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wyydwy7ejbaolleydrjvcgduaq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19592680%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference