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X Demographics
Mendeley readers
Attention Score in Context
| Title |
A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma
|
|---|---|
| Published in |
BMC Medical Genomics, April 2016
|
| DOI | 10.1186/s12881-016-0291-5 |
| Pubmed ID | |
| Authors |
Emmanuelle Souzeau, Kathryn P. Burdon, Bronwyn Ridge, Andrew Dubowsky, Jonathan B. Ruddle, Jamie E. Craig |
| Abstract |
Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8-36 % of cases, and display an autosomal dominant inheritance with high penetrance. Molecular diagnosis is important for early identification as therapies are effective in minimizing vision loss and MYOC variants can be associated to severe glaucoma. MYOC variants are usually inherited, however a fifth of carriers do not report a family history. The occurrence of de novo MYOC variants is currently unknown. In this study we investigated a 14 year old male Caucasian patient diagnosed with JOAG, and no family history of glaucoma. A novel probably deleterious MYOC:p.(Pro254Leu) variant was identified in the index case. This variant was not present in the parents or the siblings. This is the second report of a de novo MYOC variant in a sporadic case of JOAG and it is currently unknown if this mechanism occurs more frequently. This finding emphasizes the importance of screening individuals with JOAG for MYOC mutations irrespective of a negative family history. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Australia | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Scientists | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 24 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 4 | 17% |
| Student > Master | 3 | 13% |
| Student > Bachelor | 2 | 8% |
| Student > Postgraduate | 2 | 8% |
| Student > Ph. D. Student | 2 | 8% |
| Other | 4 | 17% |
| Unknown | 7 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 33% |
| Biochemistry, Genetics and Molecular Biology | 5 | 21% |
| Sports and Recreations | 1 | 4% |
| Agricultural and Biological Sciences | 1 | 4% |
| Unknown | 9 | 38% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 05 July 2016.
All research outputs
#17,285,036
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#1,315
of 2,444 outputs
Outputs of similar age
#193,527
of 315,328 outputs
Outputs of similar age from BMC Medical Genomics
#22
of 38 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% 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 is in the 36th percentile – i.e., 36% of its peers scored the same or lower than it.
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We're also able to compare this research output to 38 others from the same source and published within six weeks on either side of this one. This one is in the 39th percentile – i.e., 39% of its contemporaries scored the same or lower than it.