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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
|
|---|---|
| Published in |
Genome Medicine, July 2013
|
| DOI | 10.1186/gm471 |
| Pubmed ID | |
| Authors |
Kai Wang, Cecilia Kim, Jonathan Bradfield, Yunfei Guo, Elina Toskala, Frederick G Otieno, Cuiping Hou, Kelly Thomas, Christopher Cardinale, Gholson J Lyon, Ryan Golhar, Hakon Hakonarson |
| Abstract |
Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian diseases from individual families. We identified a family quartet with two children, both affected with a previously unreported disease, characterized by progressive muscular weakness and cardiomyopathy, with normal intelligence. During the course of the study, we identified one additional unrelated patient with a comparable phenotype. |
X Demographics
The data shown below were collected from the profiles of 21 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 10 | 48% |
| United Kingdom | 2 | 10% |
| France | 2 | 10% |
| Australia | 1 | 5% |
| India | 1 | 5% |
| Unknown | 5 | 24% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 11 | 52% |
| Members of the public | 10 | 48% |
Mendeley readers
The data shown below were compiled from readership statistics for 87 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 1% |
| United States | 1 | 1% |
| Italy | 1 | 1% |
| Unknown | 84 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 20 | 23% |
| Student > Ph. D. Student | 16 | 18% |
| Student > Bachelor | 7 | 8% |
| Other | 6 | 7% |
| Student > Master | 6 | 7% |
| Other | 13 | 15% |
| Unknown | 19 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 24 | 28% |
| Biochemistry, Genetics and Molecular Biology | 18 | 21% |
| Medicine and Dentistry | 18 | 21% |
| Unspecified | 2 | 2% |
| Neuroscience | 2 | 2% |
| Other | 3 | 3% |
| Unknown | 20 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 14. 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 14 July 2018.
All research outputs
#2,600,420
of 25,373,627 outputs
Outputs from Genome Medicine
#593
of 1,585 outputs
Outputs of similar age
#21,742
of 209,855 outputs
Outputs of similar age from Genome Medicine
#9
of 22 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,585 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 26.8. This one has gotten more attention than average, scoring higher than 62% 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 209,855 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 89% of its contemporaries.
We're also able to compare this research output to 22 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 59% of its contemporaries.