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

4

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Jill A Rosenfeld

6

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Karyn Meltz Steinberg

object named as

Karyn Meltz Steinberg

5

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Evan E. Eichler

19

object named as

Evan E Eichler

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3 August 2017

10

Maika Malig

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3 August 2017

7

Mattia Miroballo

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3 August 2017

11

Laura Denman

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3 August 2017

Francesca Antonacci

1

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3 August 2017

Megan Y Dennis

2

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3 August 2017

John Huddleston

3

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3 August 2017

Tina A Graves

8

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3 August 2017

Laura Vives

9

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3 August 2017

Archana Raja

12

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3 August 2017

Andrew Stuart

13

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3 August 2017

Joyce Tang

14

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3 August 2017

Brenton Munson

15

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3 August 2017

Lisa G Shaffer

16

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3 August 2017

Chris T Amemiya

17

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3 August 2017

Richard K Wilson

18

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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

volume

46

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3 August 2017

issue

12

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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

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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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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

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Further clinical and molecular delineation of the 15q24 microdeletion syndrome

7 July 2018

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

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

7 July 2018

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

7 July 2018

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

7 July 2018

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

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

7 July 2018

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

7 July 2018

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Characterization of six human disease-associated inversion polymorphisms

7 July 2018

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

7 July 2018

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

7 July 2018

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Evolutionary toggling of the MAPT 17q21.31 inversion region

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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Large recurrent microdeletions associated with schizophrenia

7 July 2018

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Rare chromosomal deletions and duplications increase risk of schizophrenia

7 July 2018

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Mapping and sequencing of structural variation from eight human genomes

7 July 2018

1 reference

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

7 July 2018

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

7 July 2018

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Clustal W and Clustal X version 2.0

7 July 2018

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

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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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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Palindrome resolution and recombination in the mammalian germ line

7 July 2018

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Miropeats: graphical DNA sequence comparisons

7 July 2018

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Instability of long inverted repeats within mouse transgenes

7 July 2018

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

7 July 2018

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Inverted DNA repeats: a source of eukaryotic genomic instability

7 July 2018

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

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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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

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

21 January 2018

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Shotgun sequence assembly and recent segmental duplications within the human genome

21 January 2018

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PubMed

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12 December 2020

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

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inferred from PubMed ID database lookup

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based on heuristic

Identifiers

DOI

10.1038/NG.3120

1 reference

3 August 2017

1 reference

3 August 2017

1 reference