Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture (Q34990719)

5 August 2017

title

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

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Adrianus Henricus Maria Geurts van Kessel

5 August 2017

author

16

Ad Geurts van Kessel

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Samarth Bhatt

Samarth S Bhatt

2

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Christian Gilissen

Christian Gilissen

9

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Joris A Veltman

Joris A Veltman

17

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Alexander Hoischen

10

Alexander Hoischen

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5 August 2017

14

Han G Brunner

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5 August 2017

18

Pawel Stankiewicz

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5 August 2017

6

Rolph Pfundt

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5 August 2017

1

Lisenka E L M Vissers

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5 August 2017

15

Sau Wai Cheung

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5 August 2017

11

Monika Nesteruk

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5 August 2017

13

Marta Smyk

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5 August 2017

5

Seema R Lalani

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5 August 2017

8

Bert B A de Vries

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5 August 2017

3

Irene M Janssen

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5 August 2017

16

Ad Geurts van Kessel

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5 August 2017

Zhilian Xia

4

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5 August 2017

Katarzyna Derwinska

7

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5 August 2017

Barbara Wisniowiecka-Kowalnik

12

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5 August 2017

publication date

3 July 2009

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5 August 2017

published in

Human Molecular Genetics

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5 August 2017

volume

18

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5 August 2017

issue

19

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5 August 2017

page(s)

3579-3593

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Diagnostic genome profiling in mental retardation

5 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Structural variation of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Characterization of a recurrent 15q24 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Genome architecture, rearrangements and genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Non-B DNA conformations, mutagenesis and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

The involvement of non-B DNA structures in gross chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Common fragile sites as targets for chromosome rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Mapping and sequencing of structural variation from eight human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Complex human chromosomal and genomic rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Mechanisms of change in gene copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

A common sequence motif associated with recombination hot spots and genome instability in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Double-strand breaks associated with repetitive DNA can reshape the genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Non-B DNA conformations, genomic rearrangements, and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Small deletion variants have stable breakpoints commonly associated with alu elements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Scaffold/Matrix Attachment Regions and intrinsic DNA curvature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

The translin ring specifically recognizes DNA ends at recombination hot spots in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

A novel gene, Translin, encodes a recombination hotspot binding protein associated with chromosomal translocations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Functional characterisation of the Schizosaccharomyces pombe homologue of the leukaemia-associated translocation breakpoint binding protein translin and its binding partner, TRAX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Palindrome-mediated chromosomal translocations in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

DNA triplexes and Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

PTCH1 duplication in a family with microcephaly and mild developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP306

21 January 2018

Identifiers

DOI

10.1093/HMG/DDP306

1 reference

5 August 2017

1 reference