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Mendeley readers
Attention Score in Context
| Title |
5.9Mb microdeletion in chromosome band 17q22–q23.2 associated with tracheo-esophageal fistula and conductive hearing loss
|
|---|---|
| Published in |
European Journal of Medical Genetics, October 2008
|
| DOI | 10.1016/j.ejmg.2008.09.006 |
| Pubmed ID | |
| Authors |
Helen Puusepp, Olga Zilina, Rita Teek, Katrin Männik, Sven Parkel, Katrin Kruustük, Kati Kuuse, Ants Kurg, Katrin Õunap |
| Abstract |
Only eight cases involving deletions of chromosome 17 in the region q22-q24 have been reported previously. We describe an additional case, a 7-year-old boy with profound mental retardation, severe microcephaly, facial dysmorphism, symphalangism, contractures of large joints, hyperopia, strabismus, bilateral conductive hearing loss, genital abnormality, psoriasis vulgaris and tracheo-esophageal fistula. Analysis with whole-genome SNP genotyping assay detected a 5.9 Mb deletion in chromosome band 17q22-q23.2 with breakpoints between 48,200,000-48,300,000 bp and 54,200,000-54,300,000 bp (according to NCBI 36). The aberration was confirmed by real-time quantitative PCR analysis. Haploinsufficiency of NOG gene has been implicated in the development of conductive hearing loss, skeletal anomalies including symphalangism, contractures of joints, and hyperopia in our patient and may also contribute to the development of tracheo-esophageal fistula and/or esophageal atresia. |
Mendeley readers
The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | 4% |
| Brazil | 1 | 4% |
| Unknown | 21 | 91% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 26% |
| Other | 3 | 13% |
| Researcher | 3 | 13% |
| Student > Bachelor | 2 | 9% |
| Professor > Associate Professor | 2 | 9% |
| Other | 1 | 4% |
| Unknown | 6 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 26% |
| Medicine and Dentistry | 5 | 22% |
| Biochemistry, Genetics and Molecular Biology | 3 | 13% |
| Arts and Humanities | 1 | 4% |
| Physics and Astronomy | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 6 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 17 April 2017.
All research outputs
#8,535,472
of 25,374,917 outputs
Outputs from European Journal of Medical Genetics
#237
of 1,078 outputs
Outputs of similar age
#37,095
of 103,289 outputs
Outputs of similar age from European Journal of Medical Genetics
#2
of 4 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,078 research outputs from this source. They receive a mean Attention Score of 3.1. This one has gotten more attention than average, scoring higher than 64% 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 103,289 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one. This one has scored higher than 2 of them.