You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
X Demographics
Mendeley readers
Attention Score in Context
| Title |
Recurrent microdeletion 2q21.1: Report on a new patient with neurological disorders
|
|---|---|
| Published in |
American Journal of Medical Genetics. Part A, December 2013
|
| DOI | 10.1002/ajmg.a.36357 |
| Pubmed ID | |
| Authors |
Stefania Gimelli, Elisavet Stathaki, Frédérique Béna, Massimiliano Leoni, Maja Di Rocco, Cristina Cuoco, Elisa Tassano |
| Abstract |
Whole genome profiling such as array comparative genomic hybridization has identified novel genomic imbalances. Copy number studies led to an explosion of the discoveries of new segmental duplication-mediated deletions and duplications. These rearrangements are mostly the result of non-allelic homologous recombination (NAHR) between low-copy repeats or segmental duplications. We have identified an individual with a small, rare deletion on chromosome 2q21.1 with psychomotor delay, hyperactivity, and aggressive behavior. The rearranged region is flanked by large complex low-copy repeats and includes only five genes: GPR148, FAM123C (AMER3), ARHGEF4, FAM168B, and PLEKHB2. The comparison between our patient and the cases previously reported in the literature contributes to a better definition of genotype-phenotype correlation of 2q21.1 microdeletions. |
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 % |
|---|---|---|
| Unknown | 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 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Denmark | 1 | 5% |
| Italy | 1 | 5% |
| Unknown | 20 | 91% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 32% |
| Student > Doctoral Student | 2 | 9% |
| Student > Bachelor | 2 | 9% |
| Professor | 2 | 9% |
| Student > Ph. D. Student | 2 | 9% |
| Other | 3 | 14% |
| Unknown | 4 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 32% |
| Agricultural and Biological Sciences | 4 | 18% |
| Medicine and Dentistry | 2 | 9% |
| Immunology and Microbiology | 1 | 5% |
| Economics, Econometrics and Finance | 1 | 5% |
| Other | 1 | 5% |
| Unknown | 6 | 27% |
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 20 December 2013.
All research outputs
#20,674,485
of 25,394,764 outputs
Outputs from American Journal of Medical Genetics. Part A
#2,942
of 4,210 outputs
Outputs of similar age
#244,948
of 320,598 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#55
of 84 outputs
Altmetric has tracked 25,394,764 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,210 research outputs from this source. They receive a mean Attention Score of 4.3. This one is in the 12th percentile – i.e., 12% 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 320,598 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 84 others from the same source and published within six weeks on either side of this one. This one is in the 8th percentile – i.e., 8% of its contemporaries scored the same or lower than it.