| Title |
Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders
|
|---|---|
| Published in |
Journal of Autism and Developmental Disorders, November 2011
|
| DOI | 10.1007/s10803-011-1389-4 |
| Pubmed ID | |
| Authors |
Patrick Malenfant, Xudong Liu, Melissa L. Hudson, Ying Qiao, Monica Hrynchak, Noémie Riendeau, M. Jeannette Hildebrand, Ira L. Cohen, Albert E. Chudley, Cynthia Forster-Gibson, Elizabeth C. R. Mickelson, Evica Rajcan-Separovic, M. E. Suzanne Lewis, Jeanette J. A. Holden |
| Abstract |
Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 117 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | <1% |
| Italy | 1 | <1% |
| Canada | 1 | <1% |
| Unknown | 114 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 18 | 15% |
| Student > Bachelor | 17 | 15% |
| Researcher | 14 | 12% |
| Student > Ph. D. Student | 14 | 12% |
| Student > Doctoral Student | 9 | 8% |
| Other | 20 | 17% |
| Unknown | 25 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Psychology | 20 | 17% |
| Biochemistry, Genetics and Molecular Biology | 19 | 16% |
| Agricultural and Biological Sciences | 14 | 12% |
| Neuroscience | 9 | 8% |
| Medicine and Dentistry | 9 | 8% |
| Other | 18 | 15% |
| Unknown | 28 | 24% |
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 24 March 2022.
All research outputs
#6,824,531
of 23,867,274 outputs
Outputs from Journal of Autism and Developmental Disorders
#2,533
of 5,240 outputs
Outputs of similar age
#40,676
of 144,473 outputs
Outputs of similar age from Journal of Autism and Developmental Disorders
#29
of 47 outputs
Altmetric has tracked 23,867,274 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 5,240 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.2. This one has gotten more attention than average, scoring higher than 50% 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 144,473 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 69% of its contemporaries.
We're also able to compare this research output to 47 others from the same source and published within six weeks on either side of this one. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.