↓ Skip to main content

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
Altmetric Badge

Mentioned by

wikipedia
2 Wikipedia pages

Citations

dimensions_citation
69 Dimensions

Readers on

mendeley
72 Mendeley
connotea
2 Connotea
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
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

Mendeley readers

The data shown below were compiled from readership statistics for 72 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 67 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 21 29%
Student > Ph. D. Student 16 22%
Professor 8 11%
Student > Doctoral Student 6 8%
Student > Bachelor 5 7%
Other 12 17%
Unknown 4 6%
Readers by discipline Count As %
Agricultural and Biological Sciences 18 25%
Medicine and Dentistry 13 18%
Biochemistry, Genetics and Molecular Biology 11 15%
Neuroscience 10 14%
Psychology 5 7%
Other 10 14%
Unknown 5 7%
Attention Score in Context

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 14 July 2018.
All research outputs
#7,454,066
of 22,788,370 outputs
Outputs from European Journal of Human Genetics
#1,768
of 3,432 outputs
Outputs of similar age
#20,312
of 62,420 outputs
Outputs of similar age from European Journal of Human Genetics
#9
of 27 outputs
Altmetric has tracked 22,788,370 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,432 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.8. This one is in the 29th percentile – i.e., 29% 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 62,420 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 27 others from the same source and published within six weeks on either side of this one. This one is in the 14th percentile – i.e., 14% of its contemporaries scored the same or lower than it.