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Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems

Overview of attention for article published in BMC Medical Genetics, October 2012
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (68th percentile)

Mentioned by

twitter
1 tweeter
wikipedia
1 Wikipedia page

Citations

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27 Dimensions

Readers on

mendeley
52 Mendeley
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Title
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems
Published in
BMC Medical Genetics, October 2012
DOI 10.1186/1471-2350-13-93
Pubmed ID
Authors

Valeria Capra, Marisol Mirabelli-Badenier, Michela Stagnaro, Andrea Rossi, Elisa Tassano, Stefania Gimelli, Giorgio Gimelli

Abstract

Deletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. In particular, different dysmorphic features associated with PAFAH1B1 or YWHAE duplication have suggested the need to classify the patient clinical features in two groups according to which gene is involved in the chromosomal duplication.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 52 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Hong Kong 1 2%
Italy 1 2%
Unknown 50 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 8 15%
Student > Master 8 15%
Student > Bachelor 8 15%
Researcher 5 10%
Professor 3 6%
Other 10 19%
Unknown 10 19%
Readers by discipline Count As %
Agricultural and Biological Sciences 13 25%
Biochemistry, Genetics and Molecular Biology 9 17%
Medicine and Dentistry 8 15%
Psychology 5 10%
Nursing and Health Professions 2 4%
Other 5 10%
Unknown 10 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 30 June 2022.
All research outputs
#6,725,695
of 22,130,231 outputs
Outputs from BMC Medical Genetics
#173
of 1,025 outputs
Outputs of similar age
#45,711
of 154,510 outputs
Outputs of similar age from BMC Medical Genetics
#1
of 1 outputs
Altmetric has tracked 22,130,231 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 1,025 research outputs from this source. They receive a mean Attention Score of 3.8. This one has done well, scoring higher than 82% 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 154,510 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 68% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them