Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation (Q39174818)

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scientific article published on 16 November 2016

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English	Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation	scientific article published on 16 November 2016

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scholarly article

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1 July 2018

http://europepmc.org/abstract/PMC/5225243

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation (English)

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http://europepmc.org/abstract/PMC/5225243

whole genome sequencing

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based on heuristic

inferred from title

9

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5 June 2020

Anna Lindstrand

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Maria Pettersson

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Wolfgang Hofmeister

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Magnus Nordenskjöld

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James R. Lupski

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James R Lupski

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Francesco Vezzi

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Francesco Vezzi

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Max Käller

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Josephine Wincent

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Josephine Wincent

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Peter Gustavsson

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Vasilios Zachariadis

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Britt-Marie Anderlid

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Outi Mäkitie

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Valtteri Wirta

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Elisabeth Syk Lundberg

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Claudia M B Carvalho

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publication date

5 December 2016

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180-192

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5 June 2020

Mechanisms for Complex Chromosomal Insertions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Essential Roles for Polymerase θ-Mediated End Joining in the Repair of Chromosome Breaks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Mechanisms underlying structural variant formation in genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

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

1 reference

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3 July 2018

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

1 reference

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3 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Absence of heterozygosity due to template switching during replicative rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Tox: a multifunctional transcription factor and novel regulator of mammalian corticogenesis

1 reference

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3 July 2018

CTNND2-a candidate gene for reading problems and mild intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Chromosomal translocations in human cells are generated by canonical nonhomologous end-joining.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Genome sequencing identifies major causes of severe intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Trimmomatic: a flexible trimmer for Illumina sequence data

1 reference

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3 July 2018

GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.

1 reference

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3 July 2018

Non-homologous end joining often uses microhomology: implications for alternative end joining

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing

1 reference

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3 July 2018

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Replicative mechanisms for CNV formation are error prone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Lypd6 enhances Wnt/β-catenin signaling by promoting Lrp6 phosphorylation in raft plasma membrane domains

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3 July 2018

Heparan sulfate proteoglycans containing a glypican 5 core and 2-O-sulfo-iduronic acid function as Sonic Hedgehog co-receptors to promote proliferation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Clinical diagnosis by whole-genome sequencing of a prenatal sample

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Chromosomal translocations and palindromic AT-rich repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

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

1 reference

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3 July 2018

Large Scale Library Generation for High Throughput Sequencing

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3 July 2018

Break-induced replication is highly inaccurate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

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

1 reference

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3 July 2018

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5225243

3 July 2018

Structural variation in the human genome and its role in disease

1 reference

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Mechanisms of change in gene copy number

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Circos: an information aesthetic for comparative genomics

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Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

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

1 reference

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3 July 2018

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

1 reference

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3 July 2018

Mapping translocation breakpoints by next-generation sequencing

1 reference

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

1 reference

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

1 reference

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Identification of six putative human transporters with structural similarity to the drug transporter SLC22 family

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Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

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3 July 2018

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

1 reference

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BLAT—The BLAST-Like Alignment Tool

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3 July 2018

Genome architecture, rearrangements and genomic disorders

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Template switching during break-induced replication

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome

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12 December 2020

based on heuristic

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t(9;22)(q34;q11.2) is a recurrent constitutional non-Robertsonian translocation and a rare cytogenetic mimic of chronic myeloid leukemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/27862604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/27862604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.23146

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27862604 AND SRC:MED&resulttype=core&format=json

5 June 2020

PMC publication ID

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Europe PubMed Central

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5 June 2020

PubMed publication ID

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Europe PubMed Central

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5 June 2020

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