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X Demographics
Mendeley readers
Attention Score in Context
| Title |
X-Linked retinoschisis associated to a novel intragenic microdeletion: case report
|
|---|---|
| Published in |
BMC Medical Genomics, January 2016
|
| DOI | 10.1186/s12881-016-0270-x |
| Pubmed ID | |
| Authors |
Clara Vazquez-Alfageme, Roberto Reinoso, Alberto Acedo, Rosa M. Coco |
| Abstract |
X-linked retinoschisis is a recessively inherited retinal degeneration. Clinical diagnosis can be challenging due to the highly variable phenotypic presentation. Also, clinical diagnostic tests may be normal at early stages of this condition. Therefore, genetic diagnosis has become a priceless tool in the management of this disease. We present a case of a 17-year-old caucasian male with foveal and peripheral schisis, along with Mizuo-Nakamura phenomenon. RS1 sequencing led to the discovery of an in-frame deletion not previously described in the literature. Genetic deletions causative of X-linked retinoschisis are quite rare, since more than 80 % are caused by misssense mutations. In this particular case, its pathological effect comes from affecting a key element of the retinoschisin, the discoidin domain. |
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 % |
|---|---|---|
| Spain | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 9% |
| Unknown | 10 | 91% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 2 | 18% |
| Other | 1 | 9% |
| Lecturer > Senior Lecturer | 1 | 9% |
| Student > Master | 1 | 9% |
| Researcher | 1 | 9% |
| Other | 0 | 0% |
| Unknown | 5 | 45% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 2 | 18% |
| Nursing and Health Professions | 1 | 9% |
| Biochemistry, Genetics and Molecular Biology | 1 | 9% |
| Unknown | 7 | 64% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 24 January 2016.
All research outputs
#15,169,543
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#978
of 2,444 outputs
Outputs of similar age
#204,433
of 403,316 outputs
Outputs of similar age from BMC Medical Genomics
#23
of 39 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 38th percentile – i.e., 38% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has gotten more attention than average, scoring higher than 57% 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 403,316 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.
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 is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.