You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
X Demographics
Mendeley readers
Attention Score in Context
| Title |
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis
|
|---|---|
| Published in |
Genetics in Medicine, March 2018
|
| DOI | 10.1038/gim.2018.11 |
| Pubmed ID | |
| Authors |
Zöe Powis, Kelly D Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, Layla S Mowlavi, Emily M Mayerhofer, David Tilstra, Timothy Vedder, Jesse M Hunter, Marilyn Tsang, Lina Gonzalez, Gerald Vockley, Sha Tang |
| Abstract |
PurposeNeonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES.MethodsThe clinical histories and results of 66 neonatal patients undergoing DES were retrospectively reviewed.ResultsClinical DES identified potentially relevant findings in 25 patients (37.9%). The majority of patients had structural anomalies such as birth defects, dysmorphic features, cardiac, craniofacial, and skeletal defects. The average time for clinical rapid testing was 8 days.ConclusionOur observations demonstrate the utility of family-based exome sequencing in neonatal patients, including familial cosegregation analysis and comprehensive medical review.GENETICS in MEDICINE advance online publication, 22 March 2018; doi:10.1038/gim.2018.11. |
X Demographics
The data shown below were collected from the profiles of 7 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 | 5 | 71% |
| United Kingdom | 2 | 29% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 57% |
| Scientists | 2 | 29% |
| Science communicators (journalists, bloggers, editors) | 1 | 14% |
Mendeley readers
The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 34 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 8 | 24% |
| Researcher | 5 | 15% |
| Student > Postgraduate | 4 | 12% |
| Student > Master | 3 | 9% |
| Student > Bachelor | 2 | 6% |
| Other | 9 | 26% |
| Unknown | 3 | 9% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 13 | 38% |
| Medicine and Dentistry | 8 | 24% |
| Agricultural and Biological Sciences | 5 | 15% |
| Psychology | 1 | 3% |
| Neuroscience | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 5 | 15% |
Attention Score in Context
This research output has an Altmetric Attention Score of 8. 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 October 2019.
All research outputs
#4,810,527
of 25,382,440 outputs
Outputs from Genetics in Medicine
#1,414
of 2,945 outputs
Outputs of similar age
#88,858
of 347,572 outputs
Outputs of similar age from Genetics in Medicine
#38
of 57 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. Compared to these this one has done well and is in the 81st percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,945 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. This one has gotten more attention than average, scoring higher than 51% 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 347,572 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 74% of its contemporaries.
We're also able to compare this research output to 57 others from the same source and published within six weeks on either side of this one. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.