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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, September 2012
|
| DOI | 10.1186/1750-1172-7-59 |
| Pubmed ID | |
| Authors |
Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno Jörn Bolz |
| Abstract |
Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. |
X Demographics
The data shown below were collected from the profiles of 3 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 | 3 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 68 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| South Africa | 1 | 1% |
| Unknown | 67 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 16 | 24% |
| Student > Ph. D. Student | 15 | 22% |
| Student > Master | 7 | 10% |
| Other | 5 | 7% |
| Professor > Associate Professor | 5 | 7% |
| Other | 11 | 16% |
| Unknown | 9 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 19 | 28% |
| Biochemistry, Genetics and Molecular Biology | 16 | 24% |
| Medicine and Dentistry | 6 | 9% |
| Neuroscience | 4 | 6% |
| Nursing and Health Professions | 3 | 4% |
| Other | 7 | 10% |
| Unknown | 13 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. 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 23 December 2023.
All research outputs
#6,111,221
of 22,675,759 outputs
Outputs from Orphanet Journal of Rare Diseases
#782
of 2,595 outputs
Outputs of similar age
#44,184
of 170,475 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#10
of 26 outputs
Altmetric has tracked 22,675,759 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 2,595 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has gotten more attention than average, scoring higher than 68% 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 170,475 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 26 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 57% of its contemporaries.