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Heterozygous FA2H mutations in autism spectrum disorders

Overview of attention for article published in BMC Medical Genetics, December 2013
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Mentioned by

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2 tweeters

Citations

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6 Dimensions

Readers on

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49 Mendeley
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Title
Heterozygous FA2H mutations in autism spectrum disorders
Published in
BMC Medical Genetics, December 2013
DOI 10.1186/1471-2350-14-124
Pubmed ID
Authors

Isabelle Scheid, Anna Maruani, Guillaume Huguet, Claire S Leblond, Gudrun Nygren, Henrik Anckarsäter, Anita Beggiato, Maria Rastam, Fréderique Amsellem, I Carina Gillberg, Monique Elmaleh, Marion Leboyer, Christopher Gillberg, Catalina Betancur, Mary Coleman, Hiroko Hama, Edwin H Cook, Thomas Bourgeron, Richard Delorme

Abstract

Widespread abnormalities in white matter development are frequently reported in cases of autism spectrum disorders (ASD) and could be involved in the disconnectivity suggested in these disorders. Homozygous mutations in the gene coding for fatty-acid 2-hydroxylase (FA2H), an enzyme involved in myelin synthesis, are associated with complex leukodystrophies, but little is known about the functional impact of heterozygous FA2H mutations. We hypothesized that rare deleterious heterozygous mutations of FA2H might constitute risk factors for ASD.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 49 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 2%
Belgium 1 2%
Unknown 47 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 22%
Researcher 9 18%
Student > Master 7 14%
Student > Bachelor 5 10%
Student > Postgraduate 5 10%
Other 4 8%
Unknown 8 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 8 16%
Neuroscience 8 16%
Medicine and Dentistry 8 16%
Psychology 7 14%
Biochemistry, Genetics and Molecular Biology 3 6%
Other 3 6%
Unknown 12 24%

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 02 January 2014.
All research outputs
#11,863,131
of 15,549,387 outputs
Outputs from BMC Medical Genetics
#521
of 949 outputs
Outputs of similar age
#174,203
of 263,065 outputs
Outputs of similar age from BMC Medical Genetics
#35
of 61 outputs
Altmetric has tracked 15,549,387 research outputs across all sources so far. This one is in the 20th percentile – i.e., 20% of other outputs scored the same or lower than it.
So far Altmetric has tracked 949 research outputs from this source. They receive a mean Attention Score of 3.2. This one is in the 38th percentile – i.e., 38% 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 263,065 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 29th percentile – i.e., 29% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 61 others from the same source and published within six weeks on either side of this one. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.