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ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of…

Overview of attention for article published in Genetics in Medicine, June 2013
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (77th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

twitter
2 tweeters
patent
1 patent
facebook
1 Facebook page
f1000
1 research highlight platform

Citations

dimensions_citation
104 Dimensions

Readers on

mendeley
132 Mendeley
Title
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics
Published in
Genetics in Medicine, June 2013
DOI 10.1038/gim.2013.61
Pubmed ID
Authors

Kristin G. Monaghan, Elaine Lyon, Elaine B. Spector

Abstract

Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency. This document provides updated information regarding FMR1 gene mutations, including prevalence, genotype-phenotype correlation, and mutation nomenclature. Methodological considerations are provided for Southern blot analysis and polymerase chain reaction amplification of the FMR1 gene, including triplet repeat-primed and methylation-specific polymerase chain reaction. In addition to report elements, examples of laboratory reports for various genotypes are also included.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 132 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Croatia 1 <1%
Italy 1 <1%
Unknown 130 98%

Demographic breakdown

Readers by professional status Count As %
Student > Master 41 31%
Researcher 22 17%
Other 20 15%
Student > Ph. D. Student 12 9%
Student > Bachelor 8 6%
Other 14 11%
Unknown 15 11%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 44 33%
Medicine and Dentistry 37 28%
Agricultural and Biological Sciences 17 13%
Nursing and Health Professions 3 2%
Psychology 3 2%
Other 7 5%
Unknown 21 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 03 December 2019.
All research outputs
#3,973,269
of 16,312,362 outputs
Outputs from Genetics in Medicine
#1,198
of 2,233 outputs
Outputs of similar age
#35,952
of 159,169 outputs
Outputs of similar age from Genetics in Medicine
#18
of 31 outputs
Altmetric has tracked 16,312,362 research outputs across all sources so far. Compared to these this one has done well and is in the 75th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,233 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.3. This one is in the 45th percentile – i.e., 45% 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 159,169 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 77% of its contemporaries.
We're also able to compare this research output to 31 others from the same source and published within six weeks on either side of this one. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.