(Q24600195)

9

0 references

0 references

Francesca Antonacci

3

0 references

Peter H Sudmant

Peter H Sudmant

1

0 references

Can Alkan

Can Alkan

4

0 references

Klaudia Walter

1 reference

ORCID Public Data File 2021

Andreas Dahl

1 reference

ORCID Public Data File 2021

Andrew G. Clark

1 reference

ORCID Public Data File 2021

Jacob O Kitzman

2

Jacob O Kitzman

0 references

Maika Malig

5

Maika Malig

0 references

Nick Sampas

7

Nick Sampas

0 references

Laurakay Bruhn

8

Laurakay Bruhn

0 references

author name string

Anya Tsalenko

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

6

0 references

language of work or name

English

0 references

publication date

29 October 2010

0 references

published in

Science

0 references

volume

330

0 references

issue

6004

0 references

page(s)

641-6

0 references

cites work

1 reference

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

Finding the missing heritability of complex diseases

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

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

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

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

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

Mapping and sequencing of structural variation from eight human genomes

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

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

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

Origins and functional impact of copy number 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

A candidate target for G protein action in brain

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 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

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

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

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

Characterization of six human disease-associated inversion polymorphisms

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

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

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

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

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

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

Adaptive evolution of UGT2B17 copy-number variation

30 May 2018

1 reference

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

30 May 2018

A Drosophila NSF mutant.

1 reference

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

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

229670

229670

1 reference

1 reference

1 reference