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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, August 2018
|
| DOI | 10.1186/s13023-018-0885-4 |
| Pubmed ID | |
| Authors |
Katherine Y. Liu, Jesse D. Sengillo, Gabriel Velez, Ruben Jauregui, Lynn Y. Sakai, Irene H. Maumenee, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang |
| Abstract |
SLIT2 is a protein ligand for the Roundabout (ROBO) receptor and was found to play a major role in repulsive midline axon guidance in central nervous system development. Based on studies utilizing knockout models, it has been postulated that SLIT2 is important for preventing inappropriate axonal routing during mammalian optic chiasm development. Case report. Here, we report a case of congenital myopia, anisometropia, and obesity in a patient with a SLIT2 point mutation. Examination of the patient's skin biopsy revealed abnormalities in elastin and collagen fibrils that suggest an underlying connective tissue disorder. Structural modeling placed the novel mutation (p.D1407G) in the EGF-like domain 8 and was predicted to affect interactions with SLIT2 binding partners. To the authors' knowledge, this is the first report of a SLIT2 variant in the context of these ocular findings. |
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 % |
|---|---|---|
| Spain | 1 | 50% |
| United States | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 18 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 3 | 17% |
| Student > Ph. D. Student | 3 | 17% |
| Professor > Associate Professor | 2 | 11% |
| Student > Master | 2 | 11% |
| Professor | 1 | 6% |
| Other | 2 | 11% |
| Unknown | 5 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Nursing and Health Professions | 3 | 17% |
| Medicine and Dentistry | 3 | 17% |
| Biochemistry, Genetics and Molecular Biology | 3 | 17% |
| Veterinary Science and Veterinary Medicine | 1 | 6% |
| Agricultural and Biological Sciences | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 6 | 33% |
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 20 August 2018.
All research outputs
#17,987,988
of 23,100,534 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,040
of 2,648 outputs
Outputs of similar age
#237,721
of 330,630 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#47
of 58 outputs
Altmetric has tracked 23,100,534 research outputs across all sources so far. This one is in the 19th percentile – i.e., 19% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,648 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one is in the 18th percentile – i.e., 18% of its peers scored the same or lower than it.
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 330,630 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 58 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.