An Organismal CNV Mutator Phenotype Restricted to Early Human Development. (Q52712904)

6 May 2018

title

An Organismal CNV Mutator Phenotype Restricted to Early Human Development. (English)

1 reference

6 May 2018

1 reference

6 May 2018

Ian M. Campbell

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6 May 2018

Claudia Gonzaga-Jauregui

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6 May 2018

Tomasz Gambin

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Feng Zhang

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Amy Breman

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6 May 2018

James R. Lupski

James R Lupski

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6 May 2018

Richard A Gibbs

Richard A Gibbs

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6 May 2018

Donna Muzny

Donna M Muzny

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6 May 2018

Pawel Stankiewicz

Paweł Stankiewicz

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6 May 2018

Zeynep Coban Akdemir

Zeynep Coban Akdemir

1 reference

6 May 2018

Carlos A Bacino

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6 May 2018

Sau Wai Cheung

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6 May 2018

Pengfei Liu

1 reference

6 May 2018

Bo Yuan

1 reference

6 May 2018

Claudia M B Carvalho

1 reference

6 May 2018

Klaudia Walter

1 reference

6 May 2018

Ling Zhang

1 reference

6 May 2018

Zechen Chong

1 reference

6 May 2018

Violet Gelowani

1 reference

6 May 2018

Karin Writzl

1 reference

6 May 2018

Sarah J Lindsay

1 reference

6 May 2018

Marjorie Withers

1 reference

6 May 2018

Joanna Wiszniewska

1 reference

6 May 2018

Jennifer Scull

1 reference

6 May 2018

Shalini N Jhangiani

1 reference

6 May 2018

Ken Chen

1 reference

6 May 2018

Bernd Rautenstrauss

1 reference

6 May 2018

Janice Smith

1 reference

6 May 2018

Chad A Shaw

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6 May 2018

Ankita Patel

1 reference

6 May 2018

Matthew E Hurles

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6 May 2018

language of work or name

English

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publication date

1 February 2017

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6 May 2018

published in

Cell

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6 May 2018

volume

168

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6 May 2018

issue

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6 May 2018

page(s)

830-842.e7

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6 May 2018

novoBreak: local assembly for breakpoint detection in cancer genomes

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Parent-of-origin-specific signatures of de novo mutations

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

The tandem duplicator phenotype as a distinct genomic configuration in cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Mechanisms underlying structural variant formation in genomic disorders

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Translesion Polymerases Drive Microhomology-Mediated Break-Induced Replication Leading to Complex Chromosomal Rearrangements

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Timing, rates and spectra of human germline mutation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Human Structural Variation: Mechanisms of Chromosome Rearrangements

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Structural variation mutagenesis of the human genome: Impact on disease and evolution

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Absence of heterozygosity due to template switching during replicative rearrangements

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

DNA replication stress as a hallmark of cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Chromosome rearrangements via template switching between diverged repeated sequences

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

The contribution of de novo coding mutations to autism spectrum disorder

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Replicative mechanisms for CNV formation are error prone

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

DeNovoGear: de novo indel and point mutation discovery and phasing.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Differential relationship of DNA replication timing to different forms of human mutation and variation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Rate of de novo mutations and the importance of father's age to disease risk

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Mutational processes molding the genomes of 21 breast cancers

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Mechanisms for recurrent and complex human genomic rearrangements

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

The role of tandem duplicator phenotype in tumour evolution in high-grade serous ovarian cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Hallmarks of Cancer: The Next Generation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Break-induced replication is highly inaccurate

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

De novo rates and selection of large copy number variation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Genomic instability--an evolving hallmark of cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Complex landscapes of somatic rearrangement in human breast cancer genomes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

A microhomology-mediated break-induced replication model for the origin of human copy number variation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

The complete genome of an individual by massively parallel DNA sequencing

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Genomic rearrangements and sporadic disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

A Factor (or Mutator Gene) Influencing Mutation Rates in Escherichia Coli

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

A mutator phenotype in cancer.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

The origins, patterns and implications of human spontaneous mutation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Lessons from hereditary colorectal cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Large Autosomal Copy-Number Differences within Unselected Monozygotic Twin Pairs are Rare

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Rearrangement structure-independent strategy of CNV breakpoint analysis

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Chromosome instability is common in human cleavage-stage embryos.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

Mutator Factor in Salmonella Typhimurium.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5407901

10.1016/J.CELL.2017.01.037

13 August 2018

Identifiers

DOI

1 reference

6 May 2018

PMC publication ID

5407901

1 reference

6 May 2018

PubMed publication ID

28235197

1 reference

6 May 2018