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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability
|
|---|---|
| Published in |
Molecular Cytogenetics, December 2014
|
| DOI | 10.1186/s13039-014-0097-0 |
| Pubmed ID | |
| Authors |
Anna A Kashevarova, Lyudmila P Nazarenko, Soren Schultz-Pedersen, Nikolay A Skryabin, Olga A Salyukova, Nataliya N Chechetkina, Ekaterina N Tolmacheva, Aleksey A Rudko, Pamela Magini, Claudio Graziano, Giovanni Romeo, Shelagh Joss, Zeynep Tümer, Igor N Lebedev |
| Abstract |
Detection of submicroscopic chromosomal alterations in patients with a idiopathic intellectual disability (ID) allows significant improvement in delineation of the regions of the genome that are associated with brain development and function. However, these chromosomal regions usually contain several protein-coding genes and regulatory elements, complicating the understanding of genotype-phenotype correlations. We report two siblings with ID and an unrelated patient with atypical autism who had 3p26.3 microdeletions and one intellectually disabled patient with a 3p26.3 microduplication encompassing only the CNTN6 gene. |
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ireland | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
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 % |
|---|---|---|
| Netherlands | 1 | 1% |
| Russia | 1 | 1% |
| France | 1 | 1% |
| Unknown | 73 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 12 | 16% |
| Student > Bachelor | 11 | 14% |
| Unspecified | 8 | 11% |
| Researcher | 7 | 9% |
| Other | 6 | 8% |
| Other | 19 | 25% |
| Unknown | 13 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 16 | 21% |
| Medicine and Dentistry | 11 | 14% |
| Agricultural and Biological Sciences | 11 | 14% |
| Unspecified | 8 | 11% |
| Psychology | 4 | 5% |
| Other | 11 | 14% |
| Unknown | 15 | 20% |
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 27 January 2015.
All research outputs
#20,251,039
of 22,780,165 outputs
Outputs from Molecular Cytogenetics
#297
of 400 outputs
Outputs of similar age
#295,061
of 352,216 outputs
Outputs of similar age from Molecular Cytogenetics
#16
of 22 outputs
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So far Altmetric has tracked 400 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 22 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.