(Q30424800)

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

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Europe PubMed Central

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11 August 2017

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

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11 August 2017

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Colby Chiang

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Carrie Hanscom

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Adrian Heilbut

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Ian Blumenthal

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Ryan E Mills

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Andrew Kirby

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Amelia M Lindgren

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Amelia M Lindgren

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Skye R Rudiger

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Clive J McLaughlan

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Clive J McLaughlan

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C Simon Bawden

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11 August 2017

Suzanne J. Reid

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Suzanne J Reid

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Richard L M Faull

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11 August 2017

Russell G. Snell

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Russell G Snell

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Mark L Borowsky

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Mark L Borowsky

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11 August 2017

Mark Joseph Daly

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Mark J Daly

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Cynthia C Morton

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Marcy E. MacDonald

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Marcy E MacDonald

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James F. Gusella

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James F Gusella

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11 August 2017

Michael E. Talkowski

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Michael E Talkowski

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Jessie C Jacobsen

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Carl Ernst

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Ira M Hall

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Yiping Shen

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Toshiro K Ohsumi

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Charles Lee

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4 March 2012

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11 August 2017

Nature Genetics

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11 August 2017

44

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390-7, S1

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11 August 2017

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

1 reference

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20 June 2018

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

1 reference

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Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients

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

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The genomic complexity of primary human prostate cancer

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Mapping copy number variation by population-scale genome sequencing

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

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Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

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A human genome structural variation sequencing resource reveals insights into mutational mechanisms

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Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

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BEDTools: a flexible suite of utilities for comparing genomic features

1 reference

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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

1 reference

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20 June 2018

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

1 reference

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20 June 2018

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

1 reference

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20 June 2018

Complex human chromosomal and genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340016

20 June 2018

Non-B DNA conformations as determinants of mutagenesis and human disease

1 reference

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20 June 2018

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

1 reference

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20 June 2018

Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340016

20 June 2018

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340016

20 June 2018

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

1 reference

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The mechanism of human nonhomologous DNA end joining

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20 June 2018

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

1 reference

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20 June 2018

Non-B DNA conformations, mutagenesis and disease

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3340016

20 June 2018

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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20 June 2018

Mechanisms of DNA double strand break repair and chromosome aberration formation

1 reference

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20 June 2018

Delineation of complex chromosomal rearrangements: evidence for increased complexity

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Illegitimate DNA integration in mammalian cells

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DNA double-strand breaks: signaling, repair and the cancer connection

1 reference

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Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

1 reference

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Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

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

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https://api.crossref.org/works/10.1038%2FNG.2202

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https://api.crossref.org/works/10.1038%2FNG.2202

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https://api.crossref.org/works/10.1038%2FNG.2202

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Fast and accurate short read alignment with Burrows-Wheeler transform

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https://api.crossref.org/works/10.1038%2FNG.2202

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The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1038%2FNG.2202

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Velvet: algorithms for de novo short read assembly using de Bruijn graphs

1 reference

https://api.crossref.org/works/10.1038%2FNG.2202

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De novobalanced chromosome rearrangements in prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388000

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388000

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1038/NG.2202

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Europe PubMed Central

PMC publication ID

11 August 2017

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

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Europe PubMed Central

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11 August 2017

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