(Q37704614)

22 August 2017

1 reference

title

The clinical context of copy number variation in the human genome (English)

1 reference

22 August 2017

2

Stephen W Scherer

1 reference

22 August 2017

Charles Lee

1

1 reference

22 August 2017

publication date

9 March 2010

1 reference

Expert Reviews in Molecular Medicine

22 August 2017

published in

1 reference

22 August 2017

volume

12

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22 August 2017

page(s)

e8

1 reference

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

22 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Structural variation in the human genome and its role in disease

21 January 2018

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The population genetics of structural variation

21 January 2018

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Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.

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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https://api.crossref.org/works/10.1017%2FS1462399410001390

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399410001390

High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399410001390

Identification of copy number variants defining genomic differences among major human groups

21 January 2018

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https://api.crossref.org/works/10.1017%2FS1462399410001390

Genome architecture, rearrangements and genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Integrated detection and population-genetic analysis of SNPs and copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Contiguous gene syndromes: a component of recognizable syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

Individual-specific ‘fingerprints’ of human DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

A common inversion under selection in Europeans

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

A new method for fluorescence microscopical localization of specific DNA sequences by in situ hybridization of fluorochrome-labelled RNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

A highly polymorphic locus in human DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

The duplicated human alpha globin genes lie close together in cellular DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Mechanisms of change in gene copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Phenotypic variations on the theme of CNVs

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Spinal muscular atrophy diagnostics

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Copy number variants, diseases and gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Genomic rearrangements and sporadic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

Copy number variation at 1q21.1 associated with neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Differences in SMN1 allele frequencies among ethnic groups within North America

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

High-resolution mapping of copy-number alterations with massively parallel sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Novel de novo SHANK3 mutation in autistic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Accurate whole human genome sequencing using reversible terminator chemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

Strong association of de novo copy number mutations with sporadic schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Psychiatric genetics: progress amid controversy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Advances in autism genetics: on the threshold of a new neurobiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

The diploid genome sequence of an Asian individual

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Methods and strategies for analyzing copy number variation using DNA microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Copy-number variations associated with neuropsychiatric conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Finding the missing heritability of complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Personal genomes: The case of the missing heritability

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

The Sequence of the Human Genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Finishing the euchromatic sequence of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

The complete genome of an individual by massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

The diploid genome sequence of an individual human

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Genotype, haplotype and copy-number variation in worldwide human populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Large, rare chromosomal deletions associated with severe early-onset obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Human chromosome 7: DNA sequence and biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Microduplications of 16p11.2 are associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Segmental duplications: an 'expanding' role in genomic instability and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Contemplating effects of genomic structural variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Recurrent 16p11.2 microdeletions in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Genomic copy number variation, human health, and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Genome assembly comparison identifies structural variants in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

When good CF tests go bad.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

The new cytogenetics: blurring the boundaries with molecular biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Copy number variations and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

Combinatorial content of CCL3L and CCL4L gene copy numbers influence HIV-AIDS susceptibility in Ukrainian children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Accurate determination of copy number variations (CNVs): application to the alpha- and beta-defensin CNVs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Copy number variation in the human genome and its implication in autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Challenges and standards in integrating surveys of structural variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

The emerging role of structural variations in common disorders: initial findings and discovery challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Structural variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Copy-number variation in control population cohorts

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

A case of human intersexuality having a possible XXY sex-determining mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Whole genome scanning: resolving clinical diagnosis and management amidst complex data

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

The cycle of genome-directed medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

A 15q13.3 microdeletion segregating with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Explaining human uniqueness: genome interactions with environment, behaviour and culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Genomic disorders ten years on.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Anti-mongolism. Studies in an infant with a partial monosomy of the 21 chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

A genome-wide investigation of SNPs and CNVs in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Rubinstein-Taybi syndrome: clinical and molecular overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Copy number variation in the CCL4L gene is associated with susceptibility to acute rejection in lung transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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/10.1017%2FS1462399410001390

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

A highly annotated whole-genome sequence of a Korean individual

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Somatic mosaicism for copy number variation in differentiated human tissues

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

CCL3L1-CCR5 Genotype Improves the Assessment of AIDS Risk in HIV-1-Infected Individuals

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Increase inGSK3β gene copy number variation in bipolar disorder

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Copy number variations in East-Asian population and their evolutionary and functional implications

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Chemical differentiation with fluorescent alkylating agents in Vicia faba metaphase chromosomes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

In situ hybridization of DNA sequences in human metaphase chromosomes visualized by an indirect fluorescent immunocytochemical procedure

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

Disruption of the neurexin 1 gene is associated with schizophrenia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

1 reference

https://api.crossref.org/works/10.1017%2FS1462399410001390

7 January 2021

10.1017/S1462399410001390

Identifiers

DOI

1 reference

22 August 2017

1 reference