Phenotypic impact of genomic structural variation: insights from and for human disease (Q34323221)

1 August 2017

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title

Phenotypic impact of genomic structural variation: insights from and for human disease (English)

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1 August 2017

author

Joachim Weischenfeldt

object named as

Joachim Weischenfeldt

series ordinal

1

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Jan Korbel

object named as

Jan O Korbel

series ordinal

4

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François Spitz

series ordinal

3

object named as

François Spitz

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1 August 2017

2

Orsolya Symmons

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1 August 2017

language of work or name

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1 February 2013

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1 August 2017

published in

Nature Reviews Genetics

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1 August 2017

volume

14

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1 August 2017

issue

2

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1 August 2017

page(s)

125-138

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Structural variation in the human genome

1 August 2017

cites work

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Mechanisms of change in gene copy number

21 January 2018

1 reference

Mapping copy number variation by population-scale genome sequencing

21 January 2018

1 reference

Origins and functional impact of copy number variation in the human genome

21 January 2018

1 reference

Towards a comprehensive structural variation map of an individual human genome

21 January 2018

1 reference

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

21 January 2018

1 reference

The clinical context of copy number variation in the human genome

21 January 2018

1 reference

Genome structural variation discovery and genotyping

21 January 2018

1 reference

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

Diversity of human copy number variation and multicopy genes

21 January 2018

1 reference

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

21 January 2018

1 reference

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

21 January 2018

1 reference

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

21 January 2018

1 reference

Psoriasis is associated with increased beta-defensin genomic copy number

21 January 2018

1 reference

Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease

21 January 2018

1 reference

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

21 January 2018

1 reference

Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

1 reference

Megabase deletions of gene deserts result in viable mice

21 January 2018

1 reference

Molecular mechanisms for constitutional chromosomal rearrangements in humans

21 January 2018

1 reference

Genomic rearrangements and sporadic disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

21 January 2018

1 reference

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

21 January 2018

1 reference

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

21 January 2018

1 reference

22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models

21 January 2018

1 reference

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 January 2018

1 reference

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.

21 January 2018

1 reference

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

21 January 2018

1 reference

Mammalian genomic imprinting.

21 January 2018

1 reference

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

21 January 2018

1 reference

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

21 January 2018

1 reference

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

21 January 2018

1 reference

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

21 January 2018

1 reference

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

21 January 2018

1 reference

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

1 reference

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

21 January 2018

1 reference

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

21 January 2018

1 reference

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

21 January 2018

1 reference

Molecular mechanisms for genomic disorders

21 January 2018

1 reference

Inherited peripheral neuropathy

21 January 2018

1 reference

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

21 January 2018

1 reference

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

21 January 2018

1 reference

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

21 January 2018

1 reference

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

21 January 2018

1 reference

The mystery of missing heritability: Genetic interactions create phantom heritability

21 January 2018

1 reference

Missing heritability and strategies for finding the underlying causes of complex disease

21 January 2018

1 reference

Genetic architecture in autism spectrum disorder

21 January 2018

1 reference

Buffering of segmental and chromosomal aneuploidies in Drosophila melanogaster

21 January 2018

1 reference

Copy number variation modifies expression time courses

21 January 2018

1 reference

Segmental copy number variation shapes tissue transcriptomes.

21 January 2018

1 reference

Copy number variation influences gene expression and metabolic traits in mice

21 January 2018

1 reference

Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions

21 January 2018

1 reference

Amplified genes may be overexpressed, unchanged, or downregulated in cervical cancer cell lines.

21 January 2018

1 reference

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

21 January 2018

1 reference

Dosage compensation: the beginning and end of generalization.

21 January 2018

1 reference

Mouse genomic variation and its effect on phenotypes and gene regulation

21 January 2018

1 reference

Sequence-based characterization of structural variation in the mouse genome

21 January 2018

1 reference

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

21 January 2018

1 reference

The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells

21 January 2018

1 reference

Long-range control of gene expression: emerging mechanisms and disruption in disease

21 January 2018

1 reference

β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

21 January 2018

1 reference

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

21 January 2018

1 reference

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

21 January 2018

1 reference

Patterning mechanisms controlling vertebrate limb development

21 January 2018

1 reference

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

21 January 2018

1 reference

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

21 January 2018

1 reference

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

21 January 2018

1 reference

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

21 January 2018

1 reference

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

21 January 2018

1 reference

Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly

21 January 2018

1 reference

Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.

21 January 2018

1 reference

Enhancer-adoption as a mechanism of human developmental disease.

21 January 2018

1 reference

A global control region defines a chromosomal regulatory landscape containing the HoxD cluster

21 January 2018

1 reference

Comparative functional analysis of the Caenorhabditis elegans and Drosophila melanogaster proteomes

21 January 2018

1 reference

Sequence signatures and mRNA concentration can explain two-thirds of protein abundance variation in a human cell line

21 January 2018

1 reference

Global quantification of mammalian gene expression control

21 January 2018

1 reference

Comparative analysis of proteome and transcriptome variation in mouse

21 January 2018

1 reference

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

21 January 2018

1 reference

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

21 January 2018

1 reference

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms

21 January 2018

1 reference

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

21 January 2018

1 reference

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

21 January 2018

1 reference

Diet and the evolution of human amylase gene copy number variation

21 January 2018

1 reference

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

21 January 2018

1 reference

Down syndrome: searching for the genetic culprits

21 January 2018

1 reference

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

21 January 2018

1 reference

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

21 January 2018

1 reference

Novel origins of copy number variation in the dog genome

21 January 2018

1 reference

Genomic regions showing copy number variations associate with resistance or susceptibility to gastrointestinal nematodes in Angus cattle.

21 January 2018

1 reference

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

21 January 2018

1 reference

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.

21 January 2018

1 reference

A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant

21 January 2018

1 reference

Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3.

21 January 2018

1 reference

Advances in behavioral genetics: mouse models of autism

21 January 2018

1 reference

Animal models of schizophrenia.

21 January 2018

1 reference

Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization

21 January 2018

1 reference

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

21 January 2018

1 reference

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes.

21 January 2018

1 reference

Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors.

21 January 2018

1 reference

A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis

21 January 2018

1 reference

Identification of downstream genetic pathways of Tbx1 in the second heart field

21 January 2018

1 reference

Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome

21 January 2018

1 reference

Mesodermal Tbx1 is required for patterning the proximal mandible in mice

21 January 2018

1 reference

Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse

21 January 2018

1 reference

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

21 January 2018

1 reference

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome

21 January 2018

1 reference

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike

21 January 2018

1 reference

Manipulating the mouse genome to engineer precise functional syntenic replacements with human sequence.

21 January 2018

1 reference

Genomically humanized mice: technologies and promises

21 January 2018

1 reference

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes

21 January 2018

1 reference

Characterising and predicting haploinsufficiency in the human genome.

21 January 2018

1 reference

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

21 January 2018

1 reference

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

21 January 2018

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Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

21 January 2018

1 reference

Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability

21 January 2018

1 reference

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

21 January 2018

1 reference

Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond

21 January 2018

1 reference

Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor

21 January 2018

1 reference

Comprehensive mapping of long-range interactions reveals folding principles of the human genome

21 January 2018

1 reference

An integrated encyclopedia of DNA elements in the human genome

21 January 2018

1 reference

Modelling schizophrenia using human induced pluripotent stem cells

21 January 2018

1 reference

Disease-specific induced pluripotent stem cells

21 January 2018

1 reference

Toward simpler and faster genome-wide mutagenesis in mice

21 January 2018

1 reference

Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases

21 January 2018

1 reference

Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast

21 January 2018

1 reference

Identification and characterization of high-flux-control genes of yeast through competition analyses in continuous cultures.

21 January 2018

1 reference

A systematic survey of loss-of-function variants in human protein-coding genes

21 January 2018

1 reference

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

21 January 2018

1 reference

X inactivation and disease

21 January 2018

1 reference

Gene regulatory logic for reading the Sonic Hedgehog signaling gradient in the vertebrate neural tube

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Loss of correlations among proteins in brains of the Ts65Dn mouse model of down syndrome.

21 January 2018

1 reference

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

21 January 2018

1 reference

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

21 January 2018

1 reference

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

21 January 2018

1 reference

Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1

21 January 2018

1 reference

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

1 reference

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

21 January 2018

1 reference

Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus

31 March 2020

1 reference

Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice

31 March 2020

1 reference

Karyotype, ploidy, and gene dosage

31 March 2020

1 reference

A deletion in chromosome 22 can cause DiGeorge syndrome

31 March 2020

1 reference

Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse.

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23329113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Segmental aneuploidy and the genetic gross structure of the Drosophila genome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23329113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRG3373

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Dimensions Publication ID

1 August 2017

1014282807

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