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Mendeley readers
Attention Score in Context
| Title |
High rate of mosaicism in individuals with Cornelia de Lange syndrome
|
|---|---|
| Published in |
Journal of Medical Genetics, March 2013
|
| DOI | 10.1136/jmedgenet-2012-101477 |
| Pubmed ID | |
| Authors |
Sylvia A Huisman, Egbert J W Redeker, Saskia M Maas, Marcel M Mannens, Raoul C M Hennekam |
| Abstract |
Cornelia de Lange syndrome (CdLS) is a well known malformation syndrome for which five causative genes are known, accounting for ∼55-65% of cases. In this study, we hypothesised that mosaicism might explain some of the ∼35-45% of cases without detectable mutation in DNA derived from lymphocytes; we investigated the frequency of NIPBL mutations in buccal cells in individuals negative for mutations in any of the five genes in lymphocytes; and we evaluated the efficiency of obtaining DNA from buccal swabs and the best strategy for optimal mutation detection in CdLS. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 33% |
| Australia | 1 | 33% |
| United Kingdom | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 2 | 67% |
| Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 77 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 77 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 21 | 27% |
| Student > Bachelor | 9 | 12% |
| Student > Master | 9 | 12% |
| Researcher | 7 | 9% |
| Other | 6 | 8% |
| Other | 16 | 21% |
| Unknown | 9 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 25 | 32% |
| Biochemistry, Genetics and Molecular Biology | 23 | 30% |
| Agricultural and Biological Sciences | 12 | 16% |
| Psychology | 2 | 3% |
| Engineering | 2 | 3% |
| Other | 4 | 5% |
| Unknown | 9 | 12% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 26 April 2017.
All research outputs
#6,926,123
of 22,710,079 outputs
Outputs from Journal of Medical Genetics
#1,404
of 2,913 outputs
Outputs of similar age
#58,805
of 196,095 outputs
Outputs of similar age from Journal of Medical Genetics
#18
of 25 outputs
Altmetric has tracked 22,710,079 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 2,913 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.2. This one has gotten more attention than average, scoring higher than 50% 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 196,095 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 68% of its contemporaries.
We're also able to compare this research output to 25 others from the same source and published within six weeks on either side of this one. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.