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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Mutations in ZBTB20 cause Primrose syndrome
|
|---|---|
| Published in |
Nature Genetics, July 2014
|
| DOI | 10.1038/ng.3035 |
| Pubmed ID | |
| Authors |
Viviana Cordeddu, Bert Redeker, Emilia Stellacci, Aldo Jongejan, Alessandra Fragale, Ted E J Bradley, Massimiliano Anselmi, Andrea Ciolfi, Serena Cecchetti, Valentina Muto, Laura Bernardini, Meron Azage, Daniel R Carvalho, Alberto J Espay, Alison Male, Anna-Maja Molin, Renata Posmyk, Carla Battisti, Alberto Casertano, Daniela Melis, Antoine van Kampen, Frank Baas, Marcel M Mannens, Gianfranco Bocchinfuso, Lorenzo Stella, Marco Tartaglia, Raoul C Hennekam |
| Abstract |
Primrose syndrome and 3q13.31 microdeletion syndrome are clinically related disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavior and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifications specifically occurring in the former. We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. This finding establishes a genetic link between these disorders and delineates the impact of ZBTB20 dysregulation on development, growth and metabolism. |
X Demographics
The data shown below were collected from the profiles of 4 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 | 2 | 50% |
| Unknown | 2 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 50% |
| Scientists | 2 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 88 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 1% |
| Italy | 1 | 1% |
| Unknown | 86 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 17 | 19% |
| Student > Ph. D. Student | 14 | 16% |
| Student > Master | 9 | 10% |
| Student > Bachelor | 7 | 8% |
| Professor | 6 | 7% |
| Other | 21 | 24% |
| Unknown | 14 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 23 | 26% |
| Biochemistry, Genetics and Molecular Biology | 20 | 23% |
| Agricultural and Biological Sciences | 16 | 18% |
| Neuroscience | 4 | 5% |
| Chemistry | 3 | 3% |
| Other | 9 | 10% |
| Unknown | 13 | 15% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 29 March 2020.
All research outputs
#4,506,869
of 22,758,963 outputs
Outputs from Nature Genetics
#4,144
of 7,186 outputs
Outputs of similar age
#44,382
of 226,376 outputs
Outputs of similar age from Nature Genetics
#36
of 49 outputs
Altmetric has tracked 22,758,963 research outputs across all sources so far. Compared to these this one has done well and is in the 80th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,186 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.0. This one is in the 41st percentile – i.e., 41% of its peers scored the same or lower than it.
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 226,376 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 80% of its contemporaries.
We're also able to compare this research output to 49 others from the same source and published within six weeks on either side of this one. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.