Diversity of human copy number variation and multicopy genes (Q24600195)

ORCID Public Data File 2021

Andrew G. Clark

1 reference

ORCID Public Data File 2021

Jacob O Kitzman

Jacob O Kitzman

0 references

Maika Malig

Maika Malig

0 references

Nick Sampas

Nick Sampas

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Laurakay Bruhn

Laurakay Bruhn

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author name string

Anya Tsalenko

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

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language of work or name

English

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publication date

29 October 2010

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published in

Science

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volume

330

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issue

6004

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page(s)

641-6

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cites work

1 reference

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Finding the missing heritability of complex diseases

7 April 2017

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The F-BAR domain of srGAP2 induces membrane protrusions required for neuronal migration and morphogenesis

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020103

Large recurrent microdeletions associated with schizophrenia

7 April 2017

1 reference

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Mapping and sequencing of structural variation from eight human genomes

7 April 2017

1 reference

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Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020103

Global variation in copy number in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020103

Preservation of duplicate genes by complementary, degenerative mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020103

Detection of large-scale variation in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020103

Molecular characterization of schizophrenia viewed by microarray analysis of gene expression in prefrontal cortex

7 April 2017

1 reference

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

7 April 2017

1 reference

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A candidate target for G protein action in brain

7 April 2017

1 reference

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A common inversion under selection in Europeans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020103

Recent segmental duplications in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020103

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

7 April 2017

1 reference

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

27 September 2017

1 reference

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Characterization of six human disease-associated inversion polymorphisms

27 September 2017

1 reference

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020103

Evidence for natural selection on leukocyte immunoglobulin-like receptors for HLA class I in Northeast Asians

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020103

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020103

Gene conversion: mechanisms, evolution and human disease

27 September 2017

1 reference

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A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes

27 September 2017

1 reference

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

27 September 2017

1 reference

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Adaptive evolution of UGT2B17 copy-number variation

30 May 2018

1 reference

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30 May 2018

A Drosophila NSF mutant

1 reference

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CCL3L1 and HIV/AIDS susceptibility

30 May 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1197005

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1197005

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1197005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1197005

Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21030649

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCIENCE.1197005

1 reference

1 reference

1 reference

PubMed publication ID

21030649

1 reference