(Q50309527)

http://europepmc.org/abstract/MED/21854229

2 March 2018

title

Human copy number variation and complex genetic disease. (English)

1 reference

http://europepmc.org/abstract/MED/21854229

2 March 2018

3

Evan E Eichler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6662611&resulttype=core&format=json

15 May 2020

2

Catarina D Campbell

1 reference

15 May 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6662611&resulttype=core&format=json

1

Santhosh Girirajan

1 reference

15 May 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6662611&resulttype=core&format=json

publication date

19 August 2011

1 reference

http://europepmc.org/abstract/MED/21854229

2 March 2018

published in

Annual Review of Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6662611&resulttype=core&format=json

15 May 2020

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6662611&resulttype=core&format=json

15 May 2020

page(s)

203-226

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6662611&resulttype=core&format=json

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

15 May 2020

cites work

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12 December 2020

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

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12 December 2020

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

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12 December 2020

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

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12 December 2020

Positive selection of a gene family during the emergence of humans and African apes

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12 December 2020

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

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12 December 2020

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

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12 December 2020

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

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12 December 2020

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

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12 December 2020

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

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12 December 2020

Recent segmental duplications in the human genome

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12 December 2020

Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes

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12 December 2020

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

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12 December 2020

Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection.

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12 December 2020

Large-scale copy number polymorphism in the human genome

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12 December 2020

Detection of large-scale variation in the human genome

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12 December 2020

The DNA sequence and comparative analysis of human chromosome 5

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12 December 2020

An update of the HLA genomic region, locus information and disease associations: 2004.

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12 December 2020

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

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12 December 2020

Fine-scale structural variation of the human genome

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12 December 2020

Segmental duplications and copy-number variation in the human genome

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12 December 2020

Diagnostic genome profiling in mental retardation

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12 December 2020

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

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12 December 2020

Common deletions and SNPs are in linkage disequilibrium in the human genome

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12 December 2020

Common deletion polymorphisms in the human genome.

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12 December 2020

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

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12 December 2020

Hotspots for copy number variation in chimpanzees and humans

1 reference

12 December 2020

Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains

1 reference

12 December 2020

Lamin B1 duplications cause autosomal dominant leukodystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Global variation in copy number in the human genome

1 reference

12 December 2020

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

1 reference

12 December 2020

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of a recurrent 15q24 microdeletion syndrome.

1 reference

12 December 2020

Strong association of de novo copy number mutations with autism

1 reference

12 December 2020

Population stratification of a common APOBEC gene deletion polymorphism

1 reference

12 December 2020

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genomic rearrangements and sporadic disease

1 reference

12 December 2020

A unified genetic theory for sporadic and inherited autism

1 reference

12 December 2020

The diploid genome sequence of an individual human

1 reference

12 December 2020

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

1 reference

12 December 2020

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

1 reference

12 December 2020

Psoriasis is associated with increased beta-defensin genomic copy number

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies

1 reference

12 December 2020

Smith-Magenis syndrome

1 reference

12 December 2020

Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis

1 reference

12 December 2020

Structural variation of chromosomes in autism spectrum disorder

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

1 reference

12 December 2020

Mapping and sequencing of structural variation from eight human genomes

1 reference

12 December 2020

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

1 reference

12 December 2020

Strong association of de novo copy number mutations with sporadic schizophrenia

1 reference

12 December 2020

Identifying autism loci and genes by tracing recent shared ancestry

1 reference

12 December 2020

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

12 December 2020

Large recurrent microdeletions associated with schizophrenia

1 reference

12 December 2020

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

1 reference

12 December 2020

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

1 reference

12 December 2020

A robust statistical method for case-control association testing with copy number variation

1 reference

12 December 2020

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

1 reference

12 December 2020

A study of rare structural variants in schizophrenia patients and normal controls from Chinese Han population

1 reference

12 December 2020

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

1 reference

12 December 2020

The diploid genome sequence of an Asian individual

1 reference

12 December 2020

Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis

1 reference

12 December 2020

A 15q13.3 microdeletion segregating with autism

1 reference

12 December 2020

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

1 reference

12 December 2020

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

1 reference

12 December 2020

Evolutionary toggling of the MAPT 17q21.31 inversion region

1 reference

12 December 2020

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

1 reference

12 December 2020

Population analysis of large copy number variants and hotspots of human genetic disease

1 reference

12 December 2020

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

1 reference

12 December 2020

A genome-wide investigation of SNPs and CNVs in schizophrenia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of six human disease-associated inversion polymorphisms

1 reference

12 December 2020

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

1 reference

12 December 2020

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes

1 reference

12 December 2020

Copy number variation at 1q21.1 associated with neuroblastoma

1 reference

12 December 2020

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

1 reference

12 December 2020

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

1 reference

12 December 2020

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

1 reference

12 December 2020

Mechanisms of change in gene copy number

1 reference

12 December 2020

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.

1 reference

12 December 2020

Sensitive and accurate detection of copy number variants using read depth of coverage

1 reference

12 December 2020

Neurexin 1 (NRXN1) deletions in schizophrenia

1 reference

12 December 2020

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

1 reference

12 December 2020

Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications

1 reference

12 December 2020

Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

1 reference

12 December 2020

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

1 reference

12 December 2020

CCL3L1 and HIV/AIDS susceptibility

1 reference

12 December 2020

CCL3L1 and HIV/AIDS susceptibility

1 reference

12 December 2020

Experimental aspects of copy number variant assays at CCL3L1

1 reference

12 December 2020

Reply to: "Experimental aspects of copy number variant assays at CCL3L1".

1 reference

12 December 2020

Finding the missing heritability of complex diseases

1 reference

12 December 2020

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

1 reference

12 December 2020

Copy number variation in schizophrenia in the Japanese population

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

1 reference

12 December 2020

Inversion variants in the human genome: role in disease and genome architecture

1 reference

12 December 2020

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

1 reference

12 December 2020

Characterization of missing human genome sequences and copy-number polymorphic insertions

1 reference

12 December 2020

Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder.

1 reference

12 December 2020

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

1 reference

12 December 2020

Strong synaptic transmission impact by copy number variations in schizophrenia

1 reference

12 December 2020

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

1 reference

12 December 2020

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

1 reference

12 December 2020

Microdeletions of 3q29 confer high risk for schizophrenia

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic variability and genetic susceptibility to genomic disorders

1 reference

12 December 2020

De novo rates and selection of large copy number variation

1 reference

12 December 2020

Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.

1 reference

12 December 2020

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

1 reference

12 December 2020

Diversity of human copy number variation and multicopy genes

1 reference

12 December 2020

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

1 reference

12 December 2020

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

1 reference

12 December 2020

Mapping copy number variation by population-scale genome sequencing

1 reference

12 December 2020

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

1 reference

12 December 2020

Genome structural variation discovery and genotyping

1 reference

12 December 2020

Population-genetic properties of differentiated human copy-number polymorphisms

1 reference

12 December 2020

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

1 reference

12 December 2020

A copy number variation morbidity map of developmental delay

1 reference

12 December 2020

Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry

1 reference

12 December 2020

Molecular genetics of inherited variation in human color vision

1 reference

12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

12 December 2020

Apolipoprotein(a) kringle IV repeat number predicts risk for coronary heart disease.

1 reference

12 December 2020

Spinal muscular atrophy: untangling the knot?

1 reference

12 December 2020

10.1146/ANNUREV-GENET-102209-163544

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6662611&resulttype=core&format=json

15 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6662611&resulttype=core&format=json

15 May 2020

1 reference