Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints (Q34460796)

2 August 2017

title

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints (English)

1 reference

2 August 2017

Scott Newman

1 reference

2 August 2017

Karen E Hermetz

series ordinal

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2 August 2017

Brooke Weckselblatt

series ordinal

1 reference

2 August 2017

M Katharine Rudd

series ordinal

1 reference

2 August 2017

language of work or name

English

0 references

publication date

29 January 2015

1 reference

American Journal of Human Genetics

2 August 2017

published in

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2 August 2017

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2 August 2017

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2 August 2017

page(s)

208-220

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Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

2 August 2017

cites work

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6 July 2018

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Tandem repeats and G-rich sequences are enriched at human CNV breakpoints

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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A segmental genomic duplication generates a functional intron

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Segmental duplications mediate novel, clinically relevant chromosome rearrangements

6 July 2018

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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Intronic Alus influence alternative splicing

6 July 2018

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Disruption of contactin 4 in three subjects with autism spectrum disorder

6 July 2018

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6 July 2018

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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

6 July 2018

1 reference

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

6 July 2018

1 reference

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6 July 2018

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6 July 2018

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A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.

6 July 2018

1 reference

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Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

27 October 2018

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Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.

27 October 2018

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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

27 October 2018

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Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

27 October 2018

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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

27 October 2018

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

27 October 2018

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Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

27 October 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/25640679

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.12.017

1 reference

2 August 2017

1 reference

2 August 2017

1 reference