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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

Overview of attention for article published in Orphanet Journal of Rare Diseases, February 2013
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Title
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
Published in
Orphanet Journal of Rare Diseases, February 2013
DOI 10.1186/1750-1172-8-20
Pubmed ID
Authors

Marta Corton, Sorina D Tatu, Almudena Avila-Fernandez, Elena Vallespín, Ignacio Tapias, Diego Cantalapiedra, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Sara Bernal, Blanca García-Sandoval, Montserrat Baiget, Carmen Ayuso

Abstract

CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP) and cone-rod dystrophies. Comprehensive mutational scanning of the whole gene has been only performed in few cohorts, mainly in LCA patients. Here, we aimed investigating the real prevalence of CRB1 mutations in the Spanish population by extensive screening of CRB1 mutations in a large cohort of LCA and EORP cases.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 50 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 50 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 22%
Researcher 8 16%
Student > Master 6 12%
Student > Doctoral Student 5 10%
Other 4 8%
Other 5 10%
Unknown 11 22%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 16 32%
Agricultural and Biological Sciences 9 18%
Medicine and Dentistry 9 18%
Chemistry 2 4%
Unknown 14 28%
Attention Score in Context

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 February 2013.
All research outputs
#18,327,422
of 22,694,633 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,123
of 2,599 outputs
Outputs of similar age
#219,339
of 282,906 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#81
of 92 outputs
Altmetric has tracked 22,694,633 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,599 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one is in the 6th percentile – i.e., 6% 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 282,906 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 11th percentile – i.e., 11% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 92 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.