(Q28533822)

20 October 2023

Li Huang

1

Li

Huang

1 reference

20 October 2023

Qingyan Zhang

2

Qingyan

Zhang

1 reference

20 October 2023

Shiqiang Li

3

Shiqiang

Li

1 reference

20 October 2023

Liping Guan

4

Liping

Guan

1 reference

20 October 2023

Xueshan Xiao

5

Xueshan

Xiao

1 reference

20 October 2023

Jianguo Zhang

6

Jianguo

Zhang

1 reference

20 October 2023

Xiaoyun Jia

7

Xiaoyun

Jia

1 reference

20 October 2023

Wenmin Sun

8

Wenmin

Sun

1 reference

20 October 2023

Zhihong Zhu

9

Zhihong

Zhu

1 reference

20 October 2023

Yang Gao

10

Yang

Gao

1 reference

20 October 2023

Ye Yin

11

Ye

Yin

1 reference

20 October 2023

Panfeng Wang

12

Panfeng

Wang

1 reference

20 October 2023

Xiangming Guo

13

Xiangming

Guo

1 reference

20 October 2023

Qingjiong Zhang

15

Qingjiong

Zhang

1 reference

Creative Commons Attribution 4.0 International

20 October 2023

language of work or name

English

0 references

publication date

2013

0 references

published in

PLOS One

0 references

volume

8

0 references

issue

6

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page(s)

e65546

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copyright license

start time

11 June 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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SOAP2: an improved ultrafast tool for short read alignment

19 March 2017

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Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

SOAP: short oligonucleotide alignment program

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F 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=3679152

Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases

19 March 2017

1 reference

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Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

19 March 2017

1 reference

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QRX, a novel homeobox gene, modulates photoreceptor gene expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Primer3 on the WWW for general users and for biologist programmers

19 March 2017

1 reference

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Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

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

6 April 2017

1 reference

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 April 2017

1 reference

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A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis

29 September 2017

1 reference

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Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

29 September 2017

1 reference

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Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia.

29 September 2017

1 reference

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Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

SNP detection for massively parallel whole-genome resequencing

29 September 2017

1 reference

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Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Progressive cone dystrophy associated with mutation in CNGB3.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Improved splice site detection in Genie

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3679152

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

The ABCA4 gene in autosomal recessive cone-rod dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

Serine-27-Phenylalanine Mutation within the Peripherin/RDS Gene in a Family with Cone Dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065546

HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model

21 January 2018

1 reference

12 December 2020

CRX variants in cone-rod dystrophy and mutation overview

1 reference

12 December 2020

Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy

1 reference

12 December 2020

Genes and Mutations in Autosomal Dominant Cone and Cone-Rod Dystrophy

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0065546

Identifiers

DOI

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