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Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

Overview of attention for article published in BMC Medical Genomics, December 2011
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Title
Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations
Published in
BMC Medical Genomics, December 2011
DOI 10.1186/1471-2350-12-172
Pubmed ID
Authors

Nelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, Jiang Li, Tanya Bardakjian, Leath Tonkin, Adele Schneider, Elliott H Sherr, Anne M Slavotinek

Abstract

Anophthalmia/microphthalmia (A/M) is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that screens multiple genes simultaneously. We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 2 5%
Japan 1 3%
Unknown 34 92%

Demographic breakdown

Readers by professional status Count As %
Researcher 13 35%
Professor > Associate Professor 4 11%
Student > Master 4 11%
Student > Ph. D. Student 3 8%
Student > Bachelor 3 8%
Other 4 11%
Unknown 6 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 13 35%
Medicine and Dentistry 7 19%
Biochemistry, Genetics and Molecular Biology 6 16%
Business, Management and Accounting 1 3%
Immunology and Microbiology 1 3%
Other 3 8%
Unknown 6 16%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 11 January 2013.
All research outputs
#22,759,802
of 25,374,647 outputs
Outputs from BMC Medical Genomics
#2,010
of 2,444 outputs
Outputs of similar age
#228,034
of 249,538 outputs
Outputs of similar age from BMC Medical Genomics
#30
of 33 outputs
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So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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 249,538 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 33 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.