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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems
|
|---|---|
| Published in |
BMC Medical Genomics, October 2012
|
| DOI | 10.1186/1471-2350-13-93 |
| Pubmed ID | |
| Authors |
Valeria Capra, Marisol Mirabelli-Badenier, Michela Stagnaro, Andrea Rossi, Elisa Tassano, Stefania Gimelli, Giorgio Gimelli |
| Abstract |
Deletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. In particular, different dysmorphic features associated with PAFAH1B1 or YWHAE duplication have suggested the need to classify the patient clinical features in two groups according to which gene is involved in the chromosomal duplication. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 59 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Hong Kong | 1 | 2% |
| Italy | 1 | 2% |
| Unknown | 57 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 9 | 15% |
| Student > Ph. D. Student | 8 | 14% |
| Student > Master | 8 | 14% |
| Researcher | 7 | 12% |
| Professor | 3 | 5% |
| Other | 11 | 19% |
| Unknown | 13 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 14 | 24% |
| Biochemistry, Genetics and Molecular Biology | 10 | 17% |
| Medicine and Dentistry | 8 | 14% |
| Psychology | 5 | 8% |
| Nursing and Health Professions | 2 | 3% |
| Other | 8 | 14% |
| Unknown | 12 | 20% |
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 30 June 2022.
All research outputs
#7,960,512
of 25,374,647 outputs
Outputs from BMC Medical Genomics
#564
of 2,444 outputs
Outputs of similar age
#59,113
of 191,555 outputs
Outputs of similar age from BMC Medical Genomics
#5
of 35 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done well, scoring higher than 75% 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 191,555 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 67% of its contemporaries.
We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 85% of its contemporaries.