Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa. (Q52594137)

16 June 2018

title

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa. (English)

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16 June 2018

author name string

Hui Huang

1

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16 June 2018

Yanhua Chen

2

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16 June 2018

Huishuang Chen

3

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16 June 2018

Yuanyuan Ma

4

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16 June 2018

Pei-Wen Chiang

5

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16 June 2018

Jing Zhong

6

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16 June 2018

Xuyang Liu

7

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16 June 2018

Asan

8

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16 June 2018

Jing Wu

9

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16 June 2018

Yan Su

10

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16 June 2018

Xin Li

11

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16 June 2018

Jianlian Deng

12

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16 June 2018

Yingping Huang

13

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16 June 2018

Xinxin Zhang

14

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16 June 2018

Yang Li

15

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16 June 2018

Ning Fan

16

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16 June 2018

Ying Wang

17

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16 June 2018

Lihui Tang

18

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16 June 2018

Jinting Shen

19

1 reference

16 June 2018

Meiyan Chen

20

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16 June 2018

Xiuqing Zhang

21

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16 June 2018

Deng Te

22

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16 June 2018

Santasree Banerjee

23

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16 June 2018

Hui Liu

24

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16 June 2018

Ming Qi

25

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16 June 2018

Xin Yi

26

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16 June 2018

language of work or name

English

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publication date

11 April 2018

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16 June 2018

published in

PLOS One

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16 June 2018

volume

13

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16 June 2018

page(s)

e0185237

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16 June 2018

issue

4

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16 June 2018

Creative Commons CC0 License

copyright license

start time

11 April 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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

16 June 2018

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16 June 2018

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16 June 2018

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Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.

16 June 2018

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16 June 2018

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16 June 2018

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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

16 June 2018

1 reference

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16 June 2018

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16 June 2018

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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

16 June 2018

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16 June 2018

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Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5894961

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5894961

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5894961

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5894961

Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5894961

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5894961

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5894961

Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29641573

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29641573

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29641573

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0185237

1 reference

16 June 2018

PMCID

5894961

1 reference

16 June 2018

PubMed ID

29641573

1 reference

16 June 2018