Exome sequencing reveals CCDC111 mutation associated with high myopia (Q34338729)

1 August 2017

Exome sequencing reveals CCDC111 mutation associated with high myopia (English)

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1 August 2017

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Fuxin Zhao

1

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1 August 2017

Jinyu Wu

2

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1 August 2017

Anquan Xue

3

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1 August 2017

Yanfeng Su

4

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1 August 2017

Xiaojing Wang

5

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1 August 2017

Xianmin Lu

6

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1 August 2017

Zhonglou Zhou

7

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1 August 2017

Jia Qu

8

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1 August 2017

Xiangtian Zhou

9

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1 August 2017

12 April 2013

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1 August 2017

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1 August 2017

132

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1 August 2017

8

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1 August 2017

913-921

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https://scigraph.springernature.com/pub.10.1007/s00439-013-1303-6

1 August 2017

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cites work

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Genetic variants on chromosome 1q41 influence ocular axial length and high myopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Prevalence of myopia in urban and rural children in mainland China

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Origin and evolution of the archaeo-eukaryotic primase superfamily and related palm-domain proteins: structural insights and new members

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

The prevalence of refractive errors among adults in the United States, Western Europe, and Australia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

A genome-wide scan maps a novel high myopia locus to 5p15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

A genome-wide association study reveals association between common variants in an intergenic region of 4q25 and high-grade myopia in the Chinese Han population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Identification of a novel locus on 2q for autosomal dominant high-grade myopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Refractive errors in an elderly Japanese population: the Tajimi study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Exome sequencing identifies ZNF644 mutations in high myopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Increased prevalence of myopia in the United States between 1971-1972 and 1999-2004.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

A second locus for familial high myopia maps to chromosome 12q

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Evidence that a locus for familial high myopia maps to chromosome 18p

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1303-6

Identification of a locus for autosomal dominant high myopia on chromosome 5p13.3-p15.1 in a Chinese family.

21 January 2018

1 reference

12 December 2020

Population studies--myopia experience in Japan

1 reference

12 December 2020

Prevalence and risk factors for refractive errors in an adult inner city population.

1 reference

12 December 2020

Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia

1 reference

12 December 2020

X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq.

1 reference

12 December 2020

A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612.

1 reference

12 December 2020

Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota

1 reference

12 December 2020

[Cell culture in ophthalmology: culture of specific cell types]

1 reference

12 December 2020

Linkage analysis of high myopia susceptibility locus in 26 families

1 reference

12 December 2020

10.1007/S00439-013-1303-6

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DOI

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Dimensions Publication ID

1 August 2017

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