| Title |
Identification of additional transcripts in the Williams-Beuren syndrome critical region
|
|---|---|
| Published in |
Human Genetics, March 2002
|
| DOI | 10.1007/s00439-002-0710-x |
| Pubmed ID | |
| Authors |
Giuseppe Merla, Catherine Ucla, Michel Guipponi, Alexandre Reymond |
| Abstract |
Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. Here, we report the characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetylgalactosaminyltransferase, a DNAJ-like chaperone, NOL1/NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features. |
Mendeley readers
The data shown below were compiled from readership statistics for 81 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 1% |
| Ireland | 1 | 1% |
| Austria | 1 | 1% |
| Unknown | 78 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 20 | 25% |
| Researcher | 11 | 14% |
| Student > Bachelor | 11 | 14% |
| Student > Master | 11 | 14% |
| Student > Doctoral Student | 6 | 7% |
| Other | 11 | 14% |
| Unknown | 11 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 27 | 33% |
| Agricultural and Biological Sciences | 19 | 23% |
| Medicine and Dentistry | 7 | 9% |
| Chemistry | 3 | 4% |
| Psychology | 2 | 2% |
| Other | 6 | 7% |
| Unknown | 17 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 35. 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 14 July 2018.
All research outputs
#963,506
of 22,788,370 outputs
Outputs from Human Genetics
#81
of 2,953 outputs
Outputs of similar age
#788
of 120,918 outputs
Outputs of similar age from Human Genetics
#2
of 24 outputs
Altmetric has tracked 22,788,370 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 2,953 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one has done particularly well, scoring higher than 97% 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 120,918 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 99% 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.