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

1 reference

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2 February 2020

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2 February 2020

1 reference

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2 February 2020

1 reference

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2 February 2020

Elizabeth Goldmuntz

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2 February 2020

Marcin Imielinski

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2 February 2020

Hakon Hakonarson

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Tamim H Shaikh

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Xiaowu Gai

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2 February 2020

Juan C Perin

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2 February 2020

Tracy Casalunovo

1 reference

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2 February 2020

Laura K Conlin

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Edward C Frackelton

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Kiran Annaiah

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Jonathan P Bradfield

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Andrew Eckert

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Chioma C Onyiah

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George Otieno Ong'amo

object named as

F George Otieno

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2 February 2020

Julie L Shaner

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Robert Skraban

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Nancy B Spinner

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Elaine H Zackai

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Rosetta M Chiavacci

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Robert Grundmeier

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Eric F Rappaport

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Kevin Murphy

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Ryan O'Hara

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2 February 2020

Elizabeth A Geiger

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Chad Haldeman-Englert

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Cecilia E Kim

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Livija Medne

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Elvira Dabaghyan

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Svetlana Ostapenko

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Erin Santa

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Ryan M Smith

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Josephine Elia

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Peter S White

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publication date

10 July 2009

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2 February 2020

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volume

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issue

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2 February 2020

page(s)

1682-1690

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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

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Large recurrent microdeletions associated with schizophrenia

21 June 2018

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Rare chromosomal deletions and duplications increase risk of schizophrenia

21 June 2018

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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

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 June 2018

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

21 June 2018

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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

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21 June 2018

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21 June 2018

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

21 June 2018

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Global variation in copy number in the human genome

21 June 2018

1 reference

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Copy number variation: new insights in genome diversity

21 June 2018

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

21 June 2018

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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

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21 June 2018

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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

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Common deletion polymorphisms in the human genome.

31 October 2018

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31 October 2018

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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

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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

PubMed publication ID

19592680

1 reference

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