Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability (Q34572542)

3 August 2017

title

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability (English)

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3 August 2017

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3 August 2017

Jill A Rosenfeld

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Karyn Meltz Steinberg

object named as

Karyn Meltz Steinberg

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Evan E Eichler

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3 August 2017

Maika Malig

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3 August 2017

Mattia Miroballo

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3 August 2017

Laura Denman

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3 August 2017

Francesca Antonacci

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3 August 2017

Megan Y Dennis

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3 August 2017

John Huddleston

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3 August 2017

Tina A Graves

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3 August 2017

Laura Vives

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3 August 2017

Archana Raja

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3 August 2017

Andrew Stuart

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3 August 2017

Joyce Tang

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3 August 2017

Brenton Munson

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3 August 2017

Lisa G Shaffer

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3 August 2017

Chris T Amemiya

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3 August 2017

Richard K Wilson

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3 August 2017

language of work or name

English

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publication date

19 October 2014

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3 August 2017

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3 August 2017

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3 August 2017

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3 August 2017

page(s)

1293-1302

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Reconstructing complex regions of genomes using long-read sequencing technology

3 August 2017

cites work

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7 July 2018

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7 July 2018

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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

7 July 2018

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7 July 2018

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7 July 2018

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Characterization of six human disease-associated inversion polymorphisms

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

7 July 2018

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

7 July 2018

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Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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Characterization of a recurrent 15q24 microdeletion syndrome.

7 July 2018

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

7 July 2018

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Analysis of the DNA sequence and duplication history of human chromosome 15

7 July 2018

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Widespread and nonrandom distribution of DNA palindromes in cancer cells provides a structural platform for subsequent gene amplification.

7 July 2018

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Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster

7 July 2018

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Multiplexed genotyping with sequence-tagged molecular inversion probes

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4244265

Recent segmental duplications in the human genome

7 July 2018

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Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

7 July 2018

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Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

7 July 2018

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution.

7 July 2018

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Crossref

https://api.crossref.org/works/10.1038%2FNG.3120

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3120

Chromosomal translocations in yeast induced by low levels of DNA polymerase a model for chromosome fragile sites.

21 January 2018

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Crossref

https://api.crossref.org/works/10.1038%2FNG.3120

Shotgun sequence assembly and recent segmental duplications within the human genome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25326701

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25326701

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3120

1 reference

3 August 2017

1 reference

3 August 2017

1 reference