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SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

Overview of attention for article published in Molecular Autism, June 2013
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (89th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

blogs
1 blog
twitter
6 X users
patent
1 patent

Citations

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155 Dimensions

Readers on

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157 Mendeley
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Title
SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
Published in
Molecular Autism, June 2013
DOI 10.1186/2040-2392-4-17
Pubmed ID
Authors

Catalina Betancur, Joseph D Buxbaum

Abstract

Autism spectrum disorders (ASD) are etiologically heterogeneous, with hundreds of rare, highly penetrant mutations and genomic imbalances involved, each contributing to a very small fraction of cases. In this issue of Molecular Autism, Soorya and colleagues evaluated 32 patients with Phelan-McDermid syndrome, caused by either deletion of 22q13.33 or SHANK3 mutations, using gold-standard diagnostic assessments and showed that 84% met criteria for ASD, including 75% meeting criteria for autism. This study and prior studies demonstrate that this syndrome appears to be one of the more penetrant causes of ASD. In this companion review, we show that in samples ascertained for ASD, SHANK3 haploinsufficiency is one of the more prevalent monogenic causes of ASD, explaining at least 0.5% of cases. We note that SHANK3 haploinsufficiency remains underdiagnosed in ASD and developmental delay, although with the increasingly widespread use of chromosomal microarray analysis and targeted sequencing of SHANK3, the number of cases is bound to rise.

X Demographics

X Demographics

The data shown below were collected from the profiles of 6 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 157 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 1%
Netherlands 1 <1%
Canada 1 <1%
Unknown 153 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 28 18%
Student > Ph. D. Student 25 16%
Student > Bachelor 22 14%
Student > Master 21 13%
Student > Doctoral Student 13 8%
Other 26 17%
Unknown 22 14%
Readers by discipline Count As %
Agricultural and Biological Sciences 36 23%
Neuroscience 33 21%
Biochemistry, Genetics and Molecular Biology 24 15%
Medicine and Dentistry 19 12%
Psychology 7 4%
Other 11 7%
Unknown 27 17%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 14. 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 16 August 2022.
All research outputs
#2,600,630
of 25,374,647 outputs
Outputs from Molecular Autism
#244
of 719 outputs
Outputs of similar age
#21,920
of 210,218 outputs
Outputs of similar age from Molecular Autism
#9
of 16 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 719 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 28.2. This one has gotten more attention than average, scoring higher than 66% 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 210,218 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 89% of its contemporaries.
We're also able to compare this research output to 16 others from the same source and published within six weeks on either side of this one. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.