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X Demographics
Mendeley readers
Attention Score in Context
| Title |
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
|
|---|---|
| Published in |
Genome Medicine, February 2013
|
| DOI | 10.1186/gm415 |
| Pubmed ID | |
| Authors |
Matthew N Bainbridge, Hao Hu, Donna M Muzny, Luciana Musante, James R Lupski, Brett H Graham, Wei Chen, Karen W Gripp, Kim Jenny, Thomas F Wienker, Yaping Yang, V Reid Sutton, Richard A Gibbs, H Hilger Ropers |
| Abstract |
Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases to a single locus through allelic affinity. Here we describe an apparently novel syndrome, likely caused by de novo truncating mutations in ASXL3, which shares characteristics with Bohring-Opitz syndrome, a disease associated with de novo truncating mutations in ASXL1. |
X Demographics
The data shown below were collected from the profiles of 9 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 Kingdom | 3 | 33% |
| United States | 2 | 22% |
| Unknown | 4 | 44% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 5 | 56% |
| Scientists | 3 | 33% |
| Science communicators (journalists, bloggers, editors) | 1 | 11% |
Mendeley readers
The data shown below were compiled from readership statistics for 100 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 2% |
| Japan | 1 | 1% |
| Hong Kong | 1 | 1% |
| Italy | 1 | 1% |
| Unknown | 95 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 18 | 18% |
| Researcher | 13 | 13% |
| Other | 11 | 11% |
| Student > Master | 11 | 11% |
| Student > Bachelor | 10 | 10% |
| Other | 19 | 19% |
| Unknown | 18 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 25 | 25% |
| Agricultural and Biological Sciences | 23 | 23% |
| Medicine and Dentistry | 18 | 18% |
| Neuroscience | 4 | 4% |
| Nursing and Health Professions | 2 | 2% |
| Other | 8 | 8% |
| Unknown | 20 | 20% |
Attention Score in Context
This research output has an Altmetric Attention Score of 40. 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 March 2021.
All research outputs
#1,019,909
of 25,373,627 outputs
Outputs from Genome Medicine
#196
of 1,585 outputs
Outputs of similar age
#8,569
of 291,253 outputs
Outputs of similar age from Genome Medicine
#2
of 24 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,585 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 26.8. This one has done well, scoring higher than 87% 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 291,253 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 97% of its contemporaries.
We're also able to compare this research output to 24 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 91% of its contemporaries.