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Mendeley readers
Attention Score in Context
| Title |
A familial 7q36.3 duplication associated with agenesis of the corpus callosum
|
|---|---|
| Published in |
American Journal of Medical Genetics. Part A, May 2015
|
| DOI | 10.1002/ajmg.a.37143 |
| Pubmed ID | |
| Authors |
Keith Wong, Randal Moldrich, Matthew Hunter, Matthew Edwards, David Finlay, Sheridan O'Donnell, Tom MacDougall, Nicole Bain, Benjamin Kamien |
| Abstract |
Small chromosomal duplications involving 7q36.3 have rarely been reported. This clinical report describes four individuals from a three-generation family with agenesis of the corpus callosum (ACC) and a 0.73 Mb duplication of 7q36.3 detected by array CGH. The 7q36.3 duplication involves two genes: RNA Binding Motif Protein 33 (RBM33) and Sonic Hedgehog (SHH). Most affected family members had mild intellectual disability or borderline intellectual functioning, macrocephaly, a broad forehead, and widely spaced eyes. Two individuals had a Chiari type I malformation. This is the first family reported with ACC associated with a small duplication of these genes. While we cannot establish causation for the relationship between any single gene and the ACC in this family, there is a role for SHH in the formation of the corpus callosum through correct patterning and assembly of the commissural plate, and these data concur with vertebrate studies showing that a gain of SHH expands the facial primordium. © 2015 Wiley Periodicals, Inc. |
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 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 3% |
| Unknown | 29 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 4 | 13% |
| Student > Bachelor | 4 | 13% |
| Student > Master | 4 | 13% |
| Student > Postgraduate | 3 | 10% |
| Student > Doctoral Student | 2 | 7% |
| Other | 6 | 20% |
| Unknown | 7 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 37% |
| Biochemistry, Genetics and Molecular Biology | 3 | 10% |
| Agricultural and Biological Sciences | 2 | 7% |
| Nursing and Health Professions | 2 | 7% |
| Psychology | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 10 | 33% |
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 07 May 2015.
All research outputs
#17,286,645
of 25,374,917 outputs
Outputs from American Journal of Medical Genetics. Part A
#2,374
of 4,208 outputs
Outputs of similar age
#168,989
of 279,211 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#56
of 132 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% 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 33rd percentile – i.e., 33% of its peers scored the same or lower than it.
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We're also able to compare this research output to 132 others from the same source and published within six weeks on either side of this one. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.