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Mendeley readers
Attention Score in Context
| Title |
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, August 2013
|
| DOI | 10.1186/1750-1172-8-122 |
| Pubmed ID | |
| Authors |
Heather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda M Luxon, Mireille Claustres, Anne-Francoise Roux, Andrew R Webster, Maria Bitner-Glindzicz |
| Abstract |
Usher Syndrome is the leading cause of inherited deaf-blindness. It is divided into three subtypes, of which the most common is Usher type 2, and the USH2A gene accounts for 75-80% of cases. Despite recent sequencing strategies, in our cohort a significant proportion of individuals with Usher type 2 have just one heterozygous disease-causing mutation in USH2A, or no convincing disease-causing mutations across nine Usher genes. The purpose of this study was to improve the molecular diagnosis in these families by screening USH2A for duplications, heterozygous deletions and a common pathogenic deep intronic variant USH2A: c.7595-2144A>G. |
Mendeley readers
The data shown below were compiled from readership statistics for 64 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 64 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 9 | 14% |
| Researcher | 9 | 14% |
| Student > Ph. D. Student | 8 | 13% |
| Student > Postgraduate | 7 | 11% |
| Student > Bachelor | 5 | 8% |
| Other | 10 | 16% |
| Unknown | 16 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 23 | 36% |
| Biochemistry, Genetics and Molecular Biology | 10 | 16% |
| Medicine and Dentistry | 10 | 16% |
| Nursing and Health Professions | 2 | 3% |
| Social Sciences | 1 | 2% |
| Other | 1 | 2% |
| Unknown | 17 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 25 October 2023.
All research outputs
#4,651,979
of 24,674,353 outputs
Outputs from Orphanet Journal of Rare Diseases
#652
of 2,954 outputs
Outputs of similar age
#37,618
of 202,738 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#5
of 39 outputs
Altmetric has tracked 24,674,353 research outputs across all sources so far. Compared to these this one has done well and is in the 80th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,954 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.0. This one has done well, scoring higher than 77% 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 202,738 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 80% of its contemporaries.
We're also able to compare this research output to 39 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 89% of its contemporaries.