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Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

Overview of attention for article published in European Journal of Human Genetics, June 2016
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (70th percentile)

Mentioned by

twitter
3 X users
facebook
1 Facebook page
wikipedia
1 Wikipedia page

Citations

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21 Dimensions

Readers on

mendeley
24 Mendeley
Title
Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing
Published in
European Journal of Human Genetics, June 2016
DOI 10.1038/ejhg.2016.72
Pubmed ID
Authors

Eyal Reinstein, Shay Tzur, Rony Cohen, Concetta Bormans, Doron M Behar

Abstract

Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibitory synaptic activity. Thus far, the phenotypic spectrum of affected patients remains limited. We applied whole exome sequencing to members of a family in which the proband was presented with a complex phenotype consisting of developmental delay, dysmorphism, and non-compaction cardiomyopathy. Exome analysis identified a novel de novo splice-site variant c.1171+1G>T in exon 11 of NONO gene that is suspected to abolish the donor splicing site. Thus, we propose that the phenotypic spectrum of NONO-related disorder is much broader than described and that pathogenic variants in NONO cause a recognizable phenotype.European Journal of Human Genetics advance online publication, 22 June 2016; doi:10.1038/ejhg.2016.72.

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 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 24 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 25%
Student > Ph. D. Student 3 13%
Student > Bachelor 2 8%
Student > Doctoral Student 1 4%
Professor 1 4%
Other 4 17%
Unknown 7 29%
Readers by discipline Count As %
Medicine and Dentistry 5 21%
Biochemistry, Genetics and Molecular Biology 4 17%
Neuroscience 3 13%
Nursing and Health Professions 1 4%
Psychology 1 4%
Other 3 13%
Unknown 7 29%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 24 November 2020.
All research outputs
#6,168,429
of 22,879,161 outputs
Outputs from European Journal of Human Genetics
#1,500
of 3,443 outputs
Outputs of similar age
#101,701
of 352,770 outputs
Outputs of similar age from European Journal of Human Genetics
#40
of 56 outputs
Altmetric has tracked 22,879,161 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 3,443 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.8. This one has gotten more attention than average, scoring higher than 55% of its peers.
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 352,770 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.
We're also able to compare this research output to 56 others from the same source and published within six weeks on either side of this one. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.