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Attention Score in Context
| Title |
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21–q21.1
|
|---|---|
| Published in |
Journal of Human Genetics, June 2012
|
| DOI | 10.1038/jhg.2012.79 |
| Pubmed ID | |
| Authors |
Thomas J Jaworek, Rashid Bhatti, Noreen Latief, Shaheen N Khan, Saima Riazuddin, Zubair M Ahmed |
| Abstract |
We ascertained two large Pakistani consanguineous families (PKDF231 and PKDF608) segregating profound hearing loss, vestibular dysfunction, and retinitis pigmentosa; the defining features of Usher syndrome type 1 (USH1). To date, seven USH1 loci have been reported. Here, we map a novel locus, USH1K, on chromosome 10p11.21-q21.1. In family PKDF231, we performed a genome-wide linkage screen and found a region of homozygosity shared among the affected individuals at chromosome 10p11.21-q21.1. Meiotic recombination events in family PKDF231 define a critical interval of 11.74 cM (20.20 Mb) bounded by markers D10S1780 (63.83 cM) and D10S546 (75.57 cM). Affected individuals of family PKDF608 were also homozygous for chromosome 10p11.21-q21.1-linked STR markers. Of the 85 genes within the linkage interval, PCDH15, GJD4, FZD4, RET and LRRC18 were sequenced in both families, but no potential pathogenic mutation was identified. The USH1K locus overlaps the non-syndromic deafness locus DFNB33 raising the possibility that the two disorders may be caused by allelic mutations. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
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 % |
|---|---|---|
| Researcher | 9 | 26% |
| Student > Ph. D. Student | 5 | 15% |
| Professor > Associate Professor | 5 | 15% |
| Student > Doctoral Student | 3 | 9% |
| Student > Master | 3 | 9% |
| Other | 5 | 15% |
| Unknown | 4 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 12 | 35% |
| Medicine and Dentistry | 7 | 21% |
| Biochemistry, Genetics and Molecular Biology | 4 | 12% |
| Nursing and Health Professions | 2 | 6% |
| Neuroscience | 2 | 6% |
| Other | 2 | 6% |
| Unknown | 5 | 15% |
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 01 October 2012.
All research outputs
#18,316,001
of 22,679,690 outputs
Outputs from Journal of Human Genetics
#1,360
of 1,649 outputs
Outputs of similar age
#126,118
of 164,046 outputs
Outputs of similar age from Journal of Human Genetics
#23
of 27 outputs
Altmetric has tracked 22,679,690 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 1,649 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.1. This one is in the 7th percentile – i.e., 7% of its peers scored the same or lower than it.
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We're also able to compare this research output to 27 others from the same source and published within six weeks on either side of this one. This one is in the 3rd percentile – i.e., 3% of its contemporaries scored the same or lower than it.