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X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2014
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Citations

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76 Mendeley
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1 CiteULike
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Title
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
Published in
Orphanet Journal of Rare Diseases, April 2014
DOI 10.1186/1750-1172-9-49
Pubmed ID
Authors

Anju K Philips, Auli Sirén, Kristiina Avela, Mirja Somer, Maarit Peippo, Minna Ahvenainen, Fatma Doagu, Maria Arvio, Helena Kääriäinen, Hilde Van Esch, Guy Froyen, Stefan A Haas, Hao Hu, Vera M Kalscheuer, Irma Järvelä

Abstract

X-linked intellectual disability (XLID) is a group of genetically heterogeneous disorders characterized by substantial impairment in cognitive abilities, social and behavioral adaptive skills. Next generation sequencing technologies have become a powerful approach for identifying molecular gene mutations relevant for diagnosis.

X Demographics

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.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 76 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Finland 1 1%
United Kingdom 1 1%
Unknown 74 97%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 13 17%
Researcher 11 14%
Student > Master 9 12%
Student > Ph. D. Student 7 9%
Student > Postgraduate 4 5%
Other 16 21%
Unknown 16 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 17 22%
Agricultural and Biological Sciences 16 21%
Medicine and Dentistry 14 18%
Nursing and Health Professions 4 5%
Unspecified 2 3%
Other 8 11%
Unknown 15 20%
Attention Score in Context

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 14 April 2014.
All research outputs
#14,779,591
of 22,753,345 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,692
of 2,610 outputs
Outputs of similar age
#128,222
of 226,967 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#18
of 27 outputs
Altmetric has tracked 22,753,345 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,610 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 31st percentile – i.e., 31% 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 226,967 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 27 others from the same source and published within six weeks on either side of this one. This one is in the 25th percentile – i.e., 25% of its contemporaries scored the same or lower than it.