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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
  • High Attention Score compared to outputs of the same age (87th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (60th percentile)

Mentioned by

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2 X users
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2 patents
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1 Facebook page
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1 Wikipedia page
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1 research highlight platform

Citations

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127 Dimensions

Readers on

mendeley
188 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.

X Demographics

X Demographics

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

Mendeley readers

The data shown below were compiled from readership statistics for 188 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 186 99%

Demographic breakdown

Readers by professional status Count As %
Student > Master 47 25%
Researcher 31 16%
Student > Ph. D. Student 22 12%
Other 21 11%
Student > Bachelor 14 7%
Other 21 11%
Unknown 32 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 62 33%
Medicine and Dentistry 47 25%
Agricultural and Biological Sciences 20 11%
Psychology 4 2%
Nursing and Health Professions 4 2%
Other 12 6%
Unknown 39 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 12. 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 20 April 2022.
All research outputs
#3,080,618
of 25,373,627 outputs
Outputs from Genetics in Medicine
#1,052
of 2,943 outputs
Outputs of similar age
#25,789
of 209,497 outputs
Outputs of similar age from Genetics in Medicine
#14
of 35 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,943 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 64% 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 209,497 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 87% of its contemporaries.
We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 60% of its contemporaries.