Contemplating effects of genomic structural variation (Q37315301)

19 August 2017

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title

Contemplating effects of genomic structural variation (English)

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19 August 2017

2

Stephen W Scherer

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19 August 2017

Janet A Buchanan

1

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19 August 2017

language of work or name

English

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publication date

1 September 2008

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19 August 2017

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19 August 2017

volume

10

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19 August 2017

issue

9

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19 August 2017

page(s)

639-647

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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

19 August 2017

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The complete genome of an individual by massively parallel DNA sequencing

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Detection of large-scale variation in the human genome

21 January 2018

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Large-scale copy number polymorphism in the human genome

21 January 2018

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Global variation in copy number in the human genome

21 January 2018

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Structural variation in the human genome

21 January 2018

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Structural variants: changing the landscape of chromosomes and design of disease studies

21 January 2018

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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

21 January 2018

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Mapping and sequencing of structural variation from eight human genomes

21 January 2018

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Genome assembly comparison identifies structural variants in the human genome.

21 January 2018

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Fine-scale structural variation of the human genome

21 January 2018

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Challenges and standards in integrating surveys of structural variation

21 January 2018

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Genome architecture, rearrangements and genomic disorders

21 January 2018

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Cell cycle and genetic requirements of two pathways of nonhomologous end-joining repair of double-strand breaks in Saccharomyces cerevisiae

21 January 2018

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

21 January 2018

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

21 January 2018

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The fine-scale and complex architecture of human copy-number variation

21 January 2018

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Strong association of de novo copy number mutations with autism

21 January 2018

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Genomic rearrangements and sporadic disease

21 January 2018

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Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster.

21 January 2018

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Copy number variation: new insights in genome diversity

21 January 2018

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Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

21 January 2018

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The human disease network

21 January 2018

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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

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/10.1097%2FGIM.0B013E318183F848

The population genetics of structural variation

21 January 2018

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The functional impact of structural variation in humans

21 January 2018

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Copy-number variation and association studies of human disease

21 January 2018

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Relative impact of nucleotide and copy number variation on gene expression phenotypes

21 January 2018

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Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

21 January 2018

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Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies

21 January 2018

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Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

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Principles for the buffering of genetic variation

21 January 2018

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The human genome project will not replace the physician

21 January 2018

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Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

21 January 2018

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Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes

21 January 2018

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Mutational and selective effects on copy-number variants in the human genome

21 January 2018

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Widespread monoallelic expression on human autosomes

21 January 2018

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Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research

21 January 2018

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Recurrent 16p11.2 microdeletions in autism

21 January 2018

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Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

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Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

21 January 2018

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Research ethics recommendations for whole-genome research: consensus statement

21 January 2018

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Managing incidental findings in human subjects research: analysis and recommendations

21 January 2018

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

21 January 2018

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PhenCode: connecting ENCODE data with mutations and phenotype

21 January 2018

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Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives

21 January 2018

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Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

21 January 2018

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Copy number variation in the genome; the human DMD gene as an example

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Genetics of Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Spinal muscular atrophy diagnostics

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

alpha-Synuclein locus triplication causes Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Genetic variations in the receptor-ligand pair CCR5 and CCL3L1 are important determinants of susceptibility to Kawasaki disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Severe expressive-language delay related to duplication of the Williams-Beuren locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Genome structural variation and sporadic disease traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Strong association of de novo copy number mutations with sporadic schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Diet and the evolution of human amylase gene copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Doping test results dependent on genotype of uridine diphospho-glucuronosyl transferase 2B17, the major enzyme for testosterone glucuronidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318183F848

10.1097/GIM.0B013E318183F848

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

19 August 2017

1003300543

0 references

1 reference