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Mendeley readers
Attention Score in Context
| Title |
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, May 2014
|
| DOI | 10.1186/1750-1172-9-72 |
| Pubmed ID | |
| Authors |
Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, Neziha Gouider-Khouja, Enza Maria Valente |
| Abstract |
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome. |
Mendeley readers
The data shown below were compiled from readership statistics for 55 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 2% |
| Netherlands | 1 | 2% |
| Portugal | 1 | 2% |
| Taiwan | 1 | 2% |
| Unknown | 51 | 93% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 11 | 20% |
| Researcher | 9 | 16% |
| Other | 8 | 15% |
| Student > Master | 7 | 13% |
| Student > Bachelor | 5 | 9% |
| Other | 8 | 15% |
| Unknown | 7 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 15 | 27% |
| Medicine and Dentistry | 12 | 22% |
| Agricultural and Biological Sciences | 11 | 20% |
| Neuroscience | 2 | 4% |
| Psychology | 2 | 4% |
| Other | 3 | 5% |
| Unknown | 10 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 23 May 2014.
All research outputs
#20,230,558
of 22,756,196 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,455
of 2,610 outputs
Outputs of similar age
#193,257
of 227,399 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#30
of 31 outputs
Altmetric has tracked 22,756,196 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,610 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 1st percentile – i.e., 1% 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 227,399 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 31 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.