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Mendeley readers
Attention Score in Context
| Title |
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
|
|---|---|
| Published in |
neurogenetics, September 2016
|
| DOI | 10.1007/s10048-016-0495-z |
| Pubmed ID | |
| Authors |
Kishore R Kumar, G.M. Wali, Mahesh Kamate, Gautam Wali, André E Minoche, Clare Puttick, Mark Pinese, Velimir Gayevskiy, Marcel E Dinger, Tony Roscioli, Carolyn M. Sue, Mark J Cowley |
| Abstract |
We performed whole genome sequencing (WGS) in nine families from India with early-onset hereditary spastic paraplegia (HSP). We obtained a genetic diagnosis in 4/9 (44 %) families within known HSP genes (DDHD2 and CYP2U1), as well as perixosomal biogenesis disorders (PEX16) and GM1 gangliosidosis (GLB1). In the remaining patients, no candidate structural variants, copy number variants or predicted splice variants affecting an extended candidate gene list were identified. Our findings demonstrate the efficacy of using WGS for diagnosing early-onset HSP, particularly in consanguineous families (4/6 diagnosed), highlighting that two of the diagnoses would not have been made using a targeted approach. |
Mendeley readers
The data shown below were compiled from readership statistics for 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 31 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 5 | 16% |
| Student > Ph. D. Student | 4 | 13% |
| Student > Doctoral Student | 3 | 10% |
| Student > Bachelor | 3 | 10% |
| Unspecified | 2 | 6% |
| Other | 4 | 13% |
| Unknown | 10 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 10 | 32% |
| Medicine and Dentistry | 4 | 13% |
| Neuroscience | 3 | 10% |
| Agricultural and Biological Sciences | 2 | 6% |
| Unspecified | 2 | 6% |
| Other | 2 | 6% |
| Unknown | 8 | 26% |
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 22 January 2017.
All research outputs
#18,480,433
of 22,899,952 outputs
Outputs from neurogenetics
#303
of 379 outputs
Outputs of similar age
#244,885
of 322,641 outputs
Outputs of similar age from neurogenetics
#3
of 7 outputs
Altmetric has tracked 22,899,952 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 379 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 9th percentile – i.e., 9% 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 322,641 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 7 others from the same source and published within six weeks on either side of this one. This one has scored higher than 4 of them.