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EAA / EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013

Overview of attention for article published in Andrology, December 2013
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  • High Attention Score compared to outputs of the same age and source (93rd percentile)

Mentioned by

1 policy source
2 tweeters


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232 Mendeley
EAA / EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013
Published in
Andrology, December 2013
DOI 10.1111/j.2047-2927.2013.00173.x
Pubmed ID

C. Krausz, L. Hoefsloot, M. Simoni, F. Tüttelmann


The molecular diagnosis of Y-chromosomal microdeletions is a common routine genetic test which is part of the diagnostic workup of azoospermic and severe oligozoospermic men. Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have been actively involved in supporting the improvement of the quality of the diagnostic assays by publication of the laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions and by offering external quality assessment trials. The present revision of the 2004 laboratory guidelines summarizes all the clinical novelties related to the Y chromosome (classic, partial and gene-specific deletions, genotype-phenotype correlations, methodological issues) and provides an update on the results of the quality control programme. These aspects also reflect the consensus of a large group of specialists present at a round table session during the recent Florence-Utah-Symposium on 'Genetics of male infertility' (Florence, 19-21 September, 2013). During the last 10 years the gr/gr deletion has been demonstrated as a significant risk factor for impaired sperm production. However, the screening for this deletion type in the routine diagnostic setting is still a debated issue among experts. The original basic protocol based on two multiplex polymerase chain reactions remains fully valid and appropriate for accurate diagnosis of complete AZF deletions and it requires only a minor modification in populations with a specific Y chromosome background. However, in light of novel data on genotype-phenotype correlations, the extension analysis for the AZFa and AZFb deletions is now routinely recommended. Novel methods and kits with excessively high number of markers do not improve the sensitivity of the test, may even complicate the interpretation of the results and are not recommended. Annual participation in an external quality control programme is strongly encouraged. The 12-year experience with the EMQN/EAA scheme has shown a steep decline in diagnostic (genotyping) error rate and a simultaneous improvement on reporting practice.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 232 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Iran, Islamic Republic of 1 <1%
Croatia 1 <1%
Sudan 1 <1%
Unknown 229 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 36 16%
Student > Ph. D. Student 31 13%
Student > Master 29 13%
Student > Bachelor 27 12%
Other 23 10%
Other 46 20%
Unknown 40 17%
Readers by discipline Count As %
Medicine and Dentistry 65 28%
Biochemistry, Genetics and Molecular Biology 64 28%
Agricultural and Biological Sciences 33 14%
Chemistry 3 1%
Engineering 2 <1%
Other 13 6%
Unknown 52 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 10 April 2020.
All research outputs
of 17,411,817 outputs
Outputs from Andrology
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Outputs of similar age
of 222,533 outputs
Outputs of similar age from Andrology
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Altmetric has tracked 17,411,817 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 720 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.7. This one has done well, scoring higher than 76% 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 222,533 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 72% of its contemporaries.
We're also able to compare this research output to 16 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 93% of its contemporaries.