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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions
|
|---|---|
| Published in |
American Journal of Medical Genetics. Part A, March 2013
|
| DOI | 10.1002/ajmg.a.35779 |
| Pubmed ID | |
| Authors |
Seth J. Perlman, Shashikant Kulkarni, Linda Manwaring, Marwan Shinawi |
| Abstract |
A variety of candidate genes have been proposed to cause corpus callosum abnormalities (CCAs) in patients with terminal chromosome 1q deletions. Recent data excluded AKT3 and implicated ZNF238 and/or CEP170 as genes causative of corpus callosum anomalies in patients with 1q43-1q44 deletions. We report on a girl with dysmorphic features, seizures beginning in infancy, hypotonia, marked developmental delay, and dysgenesis of the corpus callosum. Chromosomal microarray analysis detected a de novo 1.47 Mb deletion at 1q44. The deleted interval encompasses the ZNF238 gene but not the CEP170 or AKT3 genes, thus providing additional evidence for the former and against the latter as being causative of corpus callosum anomalies in patients with such deletions. |
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 % |
|---|---|---|
| Mexico | 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 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | 5% |
| Unknown | 20 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 19% |
| Student > Ph. D. Student | 2 | 10% |
| Student > Postgraduate | 2 | 10% |
| Professor > Associate Professor | 2 | 10% |
| Student > Master | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 8 | 38% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 6 | 29% |
| Agricultural and Biological Sciences | 4 | 19% |
| Biochemistry, Genetics and Molecular Biology | 2 | 10% |
| Psychology | 1 | 5% |
| Unknown | 8 | 38% |
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 28 March 2013.
All research outputs
#20,657,128
of 25,374,917 outputs
Outputs from American Journal of Medical Genetics. Part A
#2,940
of 4,208 outputs
Outputs of similar age
#160,862
of 208,479 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#52
of 75 outputs
Altmetric has tracked 25,374,917 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 4,208 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.
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We're also able to compare this research output to 75 others from the same source and published within six weeks on either side of this one. This one is in the 2nd percentile – i.e., 2% of its contemporaries scored the same or lower than it.