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Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Overview of attention for article published in Journal of Medical Genetics, September 2011
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (83rd percentile)

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Citations

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65 Mendeley
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Title
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
Published in
Journal of Medical Genetics, September 2011
DOI 10.1136/jmedgenet-2011-100262
Pubmed ID
Authors

J. M. Schultz, R. Bhatti, A. C. Madeo, A. Turriff, J. A. Muskett, C. K. Zalewski, K. A. King, Z. M. Ahmed, S. Riazuddin, N. Ahmad, Z. Hussain, M. Qasim, S. N. Kahn, M. R. Meltzer, X. Z. Liu, M. Munisamy, M. Ghosh, H. L. Rehm, E. T. Tsilou, A. J. Griffith, W. M. Zein, C. C. Brewer, S. Riazuddin, T. B. Friedman

Abstract

Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual function. In contrast, homozygous nonsense, frame shift, splice site, and some missense mutations of CDH23, all of which are presumably functional null alleles, cause USH1D. The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth.

Mendeley readers

The data shown below were compiled from readership statistics for 65 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 2%
Unknown 64 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 14 22%
Student > Ph. D. Student 13 20%
Student > Master 8 12%
Other 7 11%
Student > Postgraduate 4 6%
Other 10 15%
Unknown 9 14%
Readers by discipline Count As %
Agricultural and Biological Sciences 25 38%
Medicine and Dentistry 14 22%
Biochemistry, Genetics and Molecular Biology 6 9%
Chemistry 3 5%
Pharmacology, Toxicology and Pharmaceutical Science 2 3%
Other 5 8%
Unknown 10 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 7. 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 17 November 2011.
All research outputs
#2,146,502
of 12,365,007 outputs
Outputs from Journal of Medical Genetics
#548
of 2,057 outputs
Outputs of similar age
#36,073
of 217,044 outputs
Outputs of similar age from Journal of Medical Genetics
#15
of 25 outputs
Altmetric has tracked 12,365,007 research outputs across all sources so far. Compared to these this one has done well and is in the 82nd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,057 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.0. This one has gotten more attention than average, scoring higher than 72% 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 217,044 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 83% of its contemporaries.
We're also able to compare this research output to 25 others from the same source and published within six weeks on either side of this one. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.