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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2012
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (73rd percentile)
  • Above-average Attention Score compared to outputs of the same age and source (51st percentile)

Mentioned by

twitter
2 tweeters
patent
1 patent
facebook
1 Facebook page

Citations

dimensions_citation
138 Dimensions

Readers on

mendeley
120 Mendeley
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Title
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
Published in
Orphanet Journal of Rare Diseases, January 2012
DOI 10.1186/1750-1172-7-8
Pubmed ID
Authors

Isabelle Audo, Kinga M Bujakowska, Thierry Léveillard, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Shomi S Bhattacharya, Christina Zeitz

Abstract

Inherited retinal disorders are clinically and genetically heterogeneous with more than 150 gene defects accounting for the diversity of disease phenotypes. So far, mutation detection was mainly performed by APEX technology and direct Sanger sequencing of known genes. However, these methods are time consuming, expensive and unable to provide a result if the patient carries a new gene mutation. In addition, multiplicity of phenotypes associated with the same gene defect may be overlooked.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 120 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 <1%
Brazil 1 <1%
South Africa 1 <1%
United Kingdom 1 <1%
Denmark 1 <1%
Unknown 115 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 35 29%
Student > Ph. D. Student 20 17%
Other 11 9%
Student > Master 10 8%
Student > Bachelor 9 8%
Other 26 22%
Unknown 9 8%
Readers by discipline Count As %
Agricultural and Biological Sciences 40 33%
Medicine and Dentistry 27 23%
Biochemistry, Genetics and Molecular Biology 25 21%
Neuroscience 3 3%
Computer Science 2 2%
Other 6 5%
Unknown 17 14%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 April 2021.
All research outputs
#5,112,021
of 18,057,469 outputs
Outputs from Orphanet Journal of Rare Diseases
#648
of 1,927 outputs
Outputs of similar age
#56,504
of 226,003 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#20
of 47 outputs
Altmetric has tracked 18,057,469 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 1,927 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one has gotten more attention than average, scoring higher than 64% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 226,003 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.
We're also able to compare this research output to 47 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 51% of its contemporaries.