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Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

Overview of attention for article published in Genome Biology (Online Edition), January 2011
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (72nd percentile)

Mentioned by

wikipedia
2 Wikipedia pages

Citations

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37 Dimensions

Readers on

mendeley
77 Mendeley
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Title
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia
Published in
Genome Biology (Online Edition), January 2011
DOI 10.1186/gb-2011-12-9-r92
Pubmed ID
Authors

Atsushi Takata, Maiko Kato, Masayuki Nakamura, Takeo Yoshikawa, Shigenobu Kanba, Akira Sano, Tadafumi Kato

Abstract

Whole-exome sequencing using next-generation technologies has been previously demonstrated to be able to detect rare disease-causing variants. Progressive external ophthalmoplegia (PEO) is an inherited mitochondrial disease that follows either autosomal dominant or recessive forms of inheritance (adPEO or arPEO). AdPEO is a genetically heterogeneous disease and several genes, including POLG1 and C10orf2/Twinkle, have been identified as responsible genes. On the other hand, POLG1 was the only established gene causing arPEO with mitochondrial DNA deletions. We previously reported a case of PEO with unidentified genetic etiology. The patient was born of a first-cousin marriage. Therefore, the recessive form of inheritance was suspected.

Mendeley readers

The data shown below were compiled from readership statistics for 77 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Italy 1 1%
Hong Kong 1 1%
Brazil 1 1%
India 1 1%
Belgium 1 1%
Spain 1 1%
Japan 1 1%
United States 1 1%
Luxembourg 1 1%
Other 0 0%
Unknown 68 88%

Demographic breakdown

Readers by professional status Count As %
Researcher 27 35%
Student > Ph. D. Student 17 22%
Professor > Associate Professor 6 8%
Other 5 6%
Student > Master 5 6%
Other 10 13%
Unknown 7 9%
Readers by discipline Count As %
Agricultural and Biological Sciences 27 35%
Medicine and Dentistry 14 18%
Biochemistry, Genetics and Molecular Biology 14 18%
Neuroscience 5 6%
Computer Science 3 4%
Other 7 9%
Unknown 7 9%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 August 2017.
All research outputs
#817,811
of 3,627,006 outputs
Outputs from Genome Biology (Online Edition)
#954
of 1,553 outputs
Outputs of similar age
#24,565
of 94,839 outputs
Outputs of similar age from Genome Biology (Online Edition)
#60
of 73 outputs
Altmetric has tracked 3,627,006 research outputs across all sources so far. This one has received more attention than most of these and is in the 63rd percentile.
So far Altmetric has tracked 1,553 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.9. This one is in the 29th percentile – i.e., 29% 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 94,839 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 72% of its contemporaries.
We're also able to compare this research output to 73 others from the same source and published within six weeks on either side of this one. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.