(Q37711814)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

0 references

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Kathleen Claes

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Mieke van Haelst

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Edwin Cuppen

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Geert Mortier

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Björn Menten

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

16

Frank Speleman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

author name string

Ellen Van Binsbergen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Tom Sante

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Silke Nowak

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Olivier Vanakker

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Bruce Poppe

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Nathalie Van der Aa

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Markus J van Roosmalen

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Karen Duran

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Masoumeh Tavakoli-Yaraki

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Marielle Swinkels

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Marie-José van den Boogaard

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Filip Roelens

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Wigard P Kloosterman

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

publication date

9 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

27 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

page(s)

652-659

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.220

27 February 2020

exact match

0 references

cites work

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1 reference

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1 reference

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

23 August 2017

1 reference

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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

23 August 2017

1 reference

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Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

23 August 2017

1 reference

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A copy number variation morbidity map of developmental delay

23 August 2017

1 reference

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

23 August 2017

1 reference

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Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

23 August 2017

1 reference

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Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes

23 August 2017

1 reference

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Mapping copy number variation by population-scale genome sequencing

23 August 2017

1 reference

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Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

23 August 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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992577

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992577

Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines

23 August 2017

1 reference

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Structural variation in the human genome and its role in disease

23 August 2017

1 reference

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Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

23 August 2017

1 reference

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Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

23 August 2017

1 reference

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Computational methods for discovering structural variation with next-generation sequencing

23 August 2017

1 reference

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992577

Fast and accurate short read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

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CNV-seq, a new method to detect copy number variation using high-throughput sequencing

23 August 2017

1 reference

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Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

23 August 2017

1 reference

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23 August 2017

1 reference

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Paired-end mapping reveals extensive structural variation in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992577

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23 August 2017

1 reference

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23 August 2017

1 reference

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Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research

23 August 2017

1 reference

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6 September 2017

1 reference

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6 September 2017

1 reference

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1 September 2018

1 reference

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Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms

1 September 2018

1 reference

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1 September 2018

1 reference

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1 September 2018

1 reference

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1 September 2018

1 reference

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1 September 2018

1 reference

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Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24105367

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.220

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105367%20AND%20SRC:MED&resulttype=core&format=json