| Title |
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
|
|---|---|
| Published in |
Human Genetics, July 2013
|
| DOI | 10.1007/s00439-013-1331-2 |
| Pubmed ID | |
| Authors |
David N. Cooper, Michael Krawczak, Constantin Polychronakos, Chris Tyler-Smith, Hildegard Kehrer-Sawatzki |
X Demographics
The data shown below were collected from the profiles of 19 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 | 4 | 21% |
| Spain | 3 | 16% |
| Canada | 2 | 11% |
| Australia | 1 | 5% |
| Ireland | 1 | 5% |
| Switzerland | 1 | 5% |
| Unknown | 7 | 37% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 10 | 53% |
| Scientists | 6 | 32% |
| Practitioners (doctors, other healthcare professionals) | 3 | 16% |
Mendeley readers
The data shown below were compiled from readership statistics for 816 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 6 | <1% |
| Spain | 5 | <1% |
| United States | 5 | <1% |
| Netherlands | 3 | <1% |
| Italy | 2 | <1% |
| Korea, Republic of | 1 | <1% |
| France | 1 | <1% |
| Brazil | 1 | <1% |
| India | 1 | <1% |
| Other | 6 | <1% |
| Unknown | 785 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 165 | 20% |
| Researcher | 128 | 16% |
| Student > Bachelor | 105 | 13% |
| Student > Master | 96 | 12% |
| Other | 48 | 6% |
| Other | 136 | 17% |
| Unknown | 138 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 201 | 25% |
| Medicine and Dentistry | 165 | 20% |
| Agricultural and Biological Sciences | 160 | 20% |
| Neuroscience | 26 | 3% |
| Nursing and Health Professions | 14 | 2% |
| Other | 90 | 11% |
| Unknown | 160 | 20% |
Attention Score in Context
This research output has an Altmetric Attention Score of 31. 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 15 February 2024.
All research outputs
#1,290,404
of 25,837,817 outputs
Outputs from Human Genetics
#96
of 3,002 outputs
Outputs of similar age
#10,590
of 208,651 outputs
Outputs of similar age from Human Genetics
#4
of 19 outputs
Altmetric has tracked 25,837,817 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,002 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.1. This one has done particularly well, scoring higher than 96% 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 208,651 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 94% of its contemporaries.
We're also able to compare this research output to 19 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.