Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR) (Q97653071)

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scientific article published on 22 July 2020

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English	Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR)	scientific article published on 22 July 2020

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24 July 2020

Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR) (English)

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24 July 2020

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Steven Pastor

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24 July 2020

Oanh Tran

2

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24 July 2020

Andrea Jin

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24 July 2020

Danielle Carrado

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24 July 2020

Benjamin A Silva

5

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24 July 2020

Lahari Uppuluri

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24 July 2020

Heba Z Abid

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24 July 2020

Eleanor Young

8

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24 July 2020

T Blaine Crowley

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24 July 2020

Alice G Bailey

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24 July 2020

Daniel E McGinn

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24 July 2020

Donna M McDonald-McGinn

12

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24 July 2020

Elaine H Zackai

13

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24 July 2020

Michael Xie

14

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24 July 2020

Deanne Taylor

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24 July 2020

Bernice E Morrow

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24 July 2020

Ming Xiao

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24 July 2020

Beverly S Emanuel

18

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24 July 2020

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22 July 2020

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24 July 2020

Scientific Reports

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24 July 2020

10

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24 July 2020

1

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24 July 2020

12235

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24 July 2020

The annual incidence of DiGeorge/velocardiofacial syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

22q11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Recent segmental duplications in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Mechanisms underlying structural variant formation in genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome maps across 26 human populations reveal population-specific patterns of structural variation

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Recombination between similar but not identical DNA sequences during yeast transformation occurs within short stretches of identity

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The 22q11.2 deletion in African-American patients: an underdiagnosed population?

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

The human genome browser at UCSC

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1038%2FS41598-020-69134-4

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/S41598-020-69134-4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32699385%20AND%20SRC:MED&resulttype=core&format=json

24 July 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32699385%20AND%20SRC:MED&resulttype=core&format=json

24 July 2020

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