(Q34572542)

3 August 2017

title

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

1 reference

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

1 reference

3 August 2017

Maika Malig

1 reference

3 August 2017

Mattia Miroballo

1 reference

3 August 2017

Laura Denman

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3 August 2017

Francesca Antonacci

1 reference

3 August 2017

Megan Y Dennis

1 reference

3 August 2017

John Huddleston

1 reference

3 August 2017

Tina A Graves

1 reference

3 August 2017

Laura Vives

1 reference

3 August 2017

Archana Raja

1 reference

3 August 2017

Andrew Stuart

1 reference

3 August 2017

Joyce Tang

1 reference

3 August 2017

Brenton Munson

1 reference

3 August 2017

Lisa G Shaffer

1 reference

3 August 2017

Chris T Amemiya

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3 August 2017

Richard K Wilson

1 reference

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

1 reference

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7 July 2018

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A mitochondrial genome sequence of a hominin from Sima de los Huesos

7 July 2018

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Hominoid fission of chromosome 14/15 and the role of segmental duplications.

7 July 2018

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Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

7 July 2018

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Evolution and diversity of copy number variation in the great ape lineage

7 July 2018

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Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

7 July 2018

1 reference

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Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

7 July 2018

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

7 July 2018

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7 July 2018

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Structural diversity and African origin of the 17q21.31 inversion polymorphism

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

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication

7 July 2018

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Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

7 July 2018

1 reference

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

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

7 July 2018

1 reference

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

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

7 July 2018

1 reference

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

A copy number variation morbidity map of developmental delay

7 July 2018

1 reference

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

Diversity of human copy number variation and multicopy genes

7 July 2018

1 reference

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

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia

7 July 2018

1 reference

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

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

7 July 2018

1 reference

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

Targeted enrichment of specific regions in the human genome by array hybridization

7 July 2018

1 reference

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

Development and analysis of a germline BAC resource for the sea lamprey, a vertebrate that undergoes substantial chromatin diminution

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

Personalized copy number and segmental duplication maps using next-generation sequencing.

7 July 2018

1 reference

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

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

7 July 2018

1 reference

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

Characterization of six human disease-associated inversion polymorphisms

7 July 2018

1 reference

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

A burst of segmental duplications in the genome of the African great ape ancestor

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

Evolutionary toggling of the MAPT 17q21.31 inversion region

7 July 2018

1 reference

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

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

Large recurrent microdeletions associated with schizophrenia

7 July 2018

1 reference

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

Rare chromosomal deletions and duplications increase risk of schizophrenia

7 July 2018

1 reference

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

Mapping and sequencing of structural variation from eight human genomes

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

Clustal W and Clustal X version 2.0

7 July 2018

1 reference

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

MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) Software Version 4.0

7 July 2018

1 reference

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

Characterization of a recurrent 15q24 microdeletion syndrome.

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

Multiplexed genotyping with sequence-tagged molecular inversion probes

7 July 2018

1 reference

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

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

Palindrome Resolution and Recombination in the Mammalian Germ Line

7 July 2018

1 reference

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

Miropeats: graphical DNA sequence comparisons

7 July 2018

1 reference

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

Instability of long inverted repeats within mouse transgenes

7 July 2018

1 reference

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

Mutations in POL1 increase the mitotic instability of tandem inverted repeats in Saccharomyces cerevisiae

7 July 2018

1 reference

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

Inverted DNA repeats: a source of eukaryotic genomic instability

7 July 2018

1 reference

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

Long DNA palindromes, cruciform structures, genetic instability and secondary structure repair

7 July 2018

1 reference

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

Basic local alignment search tool

7 July 2018

1 reference

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

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

7 July 2018

1 reference

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

1 reference

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