(Q37287518)

19 August 2017

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title

Emerging themes and new challenges in defining the role of structural variation in human disease (English)

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19 August 2017

Andrew J Sharp

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19 August 2017

publication date

1 February 2009

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19 August 2017

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19 August 2017

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19 August 2017

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19 August 2017

page(s)

135-144

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Gene prioritization through genomic data fusion

19 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Sperm studies in heterozygote inversion carriers: a review.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1)(p32q42). Regular loop formation but defective synapsis including a possible interchromosomal effect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Genomic imbalances associated with mullerian aplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

A high-resolution survey of deletion polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Diagnostic genome profiling in mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

The Suppression of Crossing Over in Inversion Heterozygotes of Drosophila Pseudoobscura

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Psoriasis is associated with increased beta-defensin genomic copy number

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

A study of females with deletions of the short arm of the X chromosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

A selective difference between human Y-chromosomal DNA haplotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Mapping and sequencing of structural variation from eight human genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Computational and experimental identification of novel human imprinted genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Common deletion polymorphisms in the human genome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Chromosome engineering in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Side effects of genome structural changes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Strong association of de novo copy number mutations with autism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Segmental duplications and copy-number variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Optimal design of oligonucleotide microarrays for measurement of DNA copy-number

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Characterization of a recurrent 15q24 microdeletion syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Population genomics of human gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Molecular and phenotypic variation in patients with severe Hunter syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Fine-scale structural variation of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

A text-mining analysis of the human phenome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Frequency of new copy number variation in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

A comprehensive analysis of common copy-number variations in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Microduplication and triplication of 22q11.2: a highly variable syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

In vivo response to high-resolution variation of Tbx1 mRNA dosage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Germ-line DNA copy number variation frequencies in a large North American population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20843

7 January 2021

Identifiers

DOI

10.1002/HUMU.20843

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19 August 2017

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