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A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)

Overview of attention for article published in BMC Nephrology, March 2014
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Title
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)
Published in
BMC Nephrology, March 2014
DOI 10.1186/1471-2369-15-41
Pubmed ID
Authors

Luisa Santangelo, Maddalena Gigante, Giuseppe Stefano Netti, Sterpeta Diella, Flora Puteo, Vincenza Carbone, Giuseppe Grandaliano, Mario Giordano, Loreto Gesualdo

Abstract

Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD is caused by mutations in the gene SMARCAL1.

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 40 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 5%
Mexico 1 3%
Unknown 37 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 18%
Student > Ph. D. Student 7 18%
Student > Doctoral Student 6 15%
Student > Postgraduate 4 10%
Other 2 5%
Other 5 13%
Unknown 9 23%
Readers by discipline Count As %
Medicine and Dentistry 11 28%
Biochemistry, Genetics and Molecular Biology 8 20%
Agricultural and Biological Sciences 4 10%
Psychology 3 8%
Nursing and Health Professions 1 3%
Other 4 10%
Unknown 9 23%
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 03 March 2014.
All research outputs
#18,366,246
of 22,747,498 outputs
Outputs from BMC Nephrology
#1,865
of 2,461 outputs
Outputs of similar age
#161,360
of 221,905 outputs
Outputs of similar age from BMC Nephrology
#35
of 45 outputs
Altmetric has tracked 22,747,498 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 2,461 research outputs from this source. They receive a mean Attention Score of 4.7. This one is in the 11th percentile – i.e., 11% 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 221,905 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 14th percentile – i.e., 14% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 45 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.