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Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

Overview of attention for article published in European Journal of Human Genetics, November 2004
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About this Attention Score

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

Mentioned by

wikipedia
1 Wikipedia page

Citations

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59 Dimensions

Readers on

mendeley
67 Mendeley
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2 Connotea
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Title
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
Published in
European Journal of Human Genetics, November 2004
DOI 10.1038/sj.ejhg.5201315
Pubmed ID
Authors

Elena Bonora, Janine A Lamb, Gabrielle Barnby, Nuala Sykes, Thomas Moberly, Kim S Beyer, Sabine M Klauck, Firtz Poustka, Elena Bacchelli, Francesca Blasi, Elena Maestrini, Agatino Battaglia, Demetrios Haracopos, Lennart Pedersen, Torben Isager, Gunna Eriksen, Birgitte Viskum, Ester-Ulsted Sorensen, Karen Brondum-Nielsen, Rodney Cotterill, Herman von Engeland, Maretha de Jonge, Chantal Kemner, Karlijn Steggehuis, Margret Scherpenisse, Michael Rutter, Patrick F Bolton, Jeremy R Parr, Annemarie Poustka, Anthony J Bailey, Anthony P Monaco

Abstract

Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility.

Mendeley readers

The data shown below were compiled from readership statistics for 67 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 2 3%
United Kingdom 1 1%
United States 1 1%
Australia 1 1%
Unknown 62 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 22 33%
Student > Ph. D. Student 16 24%
Professor 8 12%
Student > Doctoral Student 5 7%
Student > Bachelor 5 7%
Other 11 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 18 27%
Medicine and Dentistry 12 18%
Biochemistry, Genetics and Molecular Biology 10 15%
Neuroscience 10 15%
Psychology 7 10%
Other 9 13%
Unknown 1 1%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 December 2007.
All research outputs
#1,130,517
of 4,681,163 outputs
Outputs from European Journal of Human Genetics
#653
of 1,469 outputs
Outputs of similar age
#49,181
of 164,685 outputs
Outputs of similar age from European Journal of Human Genetics
#75
of 76 outputs
Altmetric has tracked 4,681,163 research outputs across all sources so far. This one has received more attention than most of these and is in the 63rd percentile.
So far Altmetric has tracked 1,469 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one is in the 35th percentile – i.e., 35% 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 164,685 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 76 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.