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X Demographics
Mendeley readers
Attention Score in Context
| Title |
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
|
|---|---|
| Published in |
BMC Medical Genomics, May 2014
|
| DOI | 10.1186/1471-2350-15-49 |
| Pubmed ID | |
| Authors |
Samuel P Strom, Reymundo Lozano, Hane Lee, Naghmeh Dorrani, John Mann, Patricia F O’Lague, Nicole Mans, Joshua L Deignan, Eric Vilain, Stanley F Nelson, Wayne W Grody, Fabiola Quintero-Rivera |
| Abstract |
Wiedemann-Steiner Syndrome (WSS) is characterized by short stature, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate developmental delay and intellectual disability. [MIM#: 605130]. Here we report two unrelated children for whom clinical exome sequencing of parent-proband trios was performed at UCLA, resulting in a molecular diagnosis of WSS and atypical clinical presentation. |
X Demographics
The data shown below were collected from the profiles of 2 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 States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 46 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 2% |
| Spain | 1 | 2% |
| Unknown | 44 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 13 | 28% |
| Researcher | 6 | 13% |
| Other | 5 | 11% |
| Student > Doctoral Student | 4 | 9% |
| Student > Bachelor | 3 | 7% |
| Other | 7 | 15% |
| Unknown | 8 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 26% |
| Biochemistry, Genetics and Molecular Biology | 11 | 24% |
| Agricultural and Biological Sciences | 6 | 13% |
| Neuroscience | 3 | 7% |
| Nursing and Health Professions | 2 | 4% |
| Other | 3 | 7% |
| Unknown | 9 | 20% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 July 2018.
All research outputs
#17,235,172
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#1,312
of 2,444 outputs
Outputs of similar age
#145,590
of 242,178 outputs
Outputs of similar age from BMC Medical Genomics
#23
of 35 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 31st percentile – i.e., 31% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 46th percentile – i.e., 46% 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 242,178 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 39th percentile – i.e., 39% of its contemporaries scored the same or lower than it.
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 is in the 34th percentile – i.e., 34% of its contemporaries scored the same or lower than it.