(Q24339538)

GOA release 2020-03-11

1 reference

Sebastian Maurer-Stroh

5

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Yi-Ju Li

object named as

Yi-Ju Li

11

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Seang-Mei Saw

14

object named as

Seang-Mei Saw

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author name string

Khanh-Nhat Tran-Viet

1

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Caldwell Powell

2

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Veluchamy A Barathi

3

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Thomas Klemm

4

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Vachiranee Limviphuvadh

6

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Vincent Soler

7

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Candice Ho

8

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Tammy Yanovitch

9

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Georg Schneider

10

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Erica Nading

12

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Ravikanth Metlapally

13

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Liang Goh

15

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Steve Rozen

16

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Terri L Young

American Journal of Human Genetics

17

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language of work or name

English

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publication date

2 May 2013

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published in

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volume

92

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issue

5

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page(s)

820-6

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cites work

Exome sequencing identifies ZNF644 mutations in high myopia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Fast and accurate short read alignment with Burrows-Wheeler transform

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Destabilizing protein polymorphisms in the genetic background direct phenotypic expression of mutant SOD1 toxicity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

19 March 2017

Copper metallochaperones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

MutationTaster evaluates disease-causing potential of sequence alterations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Detection of nonneutral substitution rates on mammalian phylogenies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

SIFT web server: predicting effects of amino acid substitutions on proteins

26 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Image defocus and altered retinal gene expression in chick: clues to the pathogenesis of ametropia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

A graphical interface for the FoldX forcefield

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Retinal thinning in tree shrews with induced high myopia: optical coherence tomography and histological assessment.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Mitochondrial respiration protects against oxygen-associated DNA damage

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Molecular genetics of human myopia: an update

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

The economic burden of major adult visual disorders in the United States

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Myopia and associated pathological complications

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Dissecting the genetics of human high myopia: a molecular biologic approach

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Epidemiologic study of the prevalence and severity of myopia among schoolchildren in Taiwan in 2000.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Oxygen distribution and consumption within the retina in vascularised and avascular retinas and in animal models of retinal 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=3644634

The role of oxidative stress in the pathogenesis of age-related macular degeneration.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

27 September 2017

The eye and nutrition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

27 September 2017

[The eye and nutrition].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Epidemiologic study of ocular refraction among schoolchildren in Taiwan in 1995.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Ocular effects of changes in oxygen and carbon dioxide tension

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Predicting functional effect of human missense mutations using PolyPhen-2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Blue-light-induced dysfunction of the blood-retinal barrier at the pigment epithelium in albino versus pigmented rabbits.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Determination of select trace elements in hair of college students in Jinzhou, China.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Economic impact of visual impairment and blindness in the United States.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Costs of refractive correction of distance vision impairment in the United States, 1999-2002.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Retinal stretching limits peripheral visual acuity in myopia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

GABA, experimental myopia, and ocular growth in chick

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Ocular development and visual deprivation myopia in the common marmoset (Callithrix jacchus).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Spectral sensitivity of the blood-retinal barrier at the pigment epithelium for blue light in the 400-500 nm range.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

Effects of zinc and copper metabolism in highly myopic patients.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644634

29 November 2018

1 reference

12 December 2020

Prevalence of myopia in local and international schools in Hong Kong

1 reference

12 December 2020

Anatomical correlates of experimentally induced myopia

1 reference

12 December 2020

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

1 reference

12 December 2020

Copper metabolism changes in pigmentary retinopathies and high myopia

1 reference

12 December 2020

Axial Length Measurements and Fundus Changes of the Myopic Eye

1 reference

12 December 2020

Copper metabolism in scleral tissue and possibilities of its correction in myopia

1 reference

12 December 2020

Assessment of macular retinal thickness and volume in normal eyes and highly myopic eyes with third-generation optical coherence tomography

1 reference

12 December 2020

Phenotypic consequences of a novelSCO2gene mutation

1 reference

12 December 2020

Changes in retinal and choroidal gene expression during development of refractive errors in chicks

1 reference

12 December 2020

Retinal dopamine and lens-induced refractive errors in chicks

1 reference

12 December 2020

Mitochondrial Disorders

1 reference

12 December 2020

10.1016/J.AJHG.2013.04.005

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

23643385

1 reference