↓ Skip to main content

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, September 2011
Altmetric Badge

About this Attention Score

  • Average Attention Score compared to outputs of the same age

Mentioned by

wikipedia
2 Wikipedia pages

Citations

dimensions_citation
39 Dimensions

Readers on

mendeley
77 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia
Published in
Genome Biology, September 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

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%
Student > Master 5 6%
Other 4 5%
Other 9 12%
Unknown 9 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 27 35%
Biochemistry, Genetics and Molecular Biology 14 18%
Medicine and Dentistry 14 18%
Neuroscience 5 6%
Computer Science 3 4%
Other 5 6%
Unknown 9 12%
Attention Score in Context

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
#8,534,528
of 25,371,288 outputs
Outputs from Genome Biology
#3,489
of 4,467 outputs
Outputs of similar age
#49,623
of 143,029 outputs
Outputs of similar age from Genome Biology
#32
of 46 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,467 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 27.6. This one is in the 14th percentile – i.e., 14% 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 143,029 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one is in the 19th percentile – i.e., 19% of its contemporaries scored the same or lower than it.