| Title |
The Genetics of Autism Spectrum Disorders – A Guide for Clinicians
|
|---|---|
| Published in |
Current Psychiatry Reports, December 2012
|
| DOI | 10.1007/s11920-012-0334-3 |
| Pubmed ID | |
| Authors |
Karsten M. Heil, Christian P. Schaaf |
| Abstract |
Recent advances in genetic testing technology have made chromosome microarray analysis (CMA) a first-tier clinical diagnostic test for Autism Spectrum Disorders (ASDs). Two main types of microarrays are available, single nucleotide polymorphism (SNP) arrays and array comparative genomic hybridization (aCGH), each with its own advantages and disadvantages in ASDs testing. Rare genetic variants, and copy number variants (CNVs) in particular, have been shown to play a major role in ASDs. More than 200 autism susceptibility genes have been identified to date, and complex patterns of inheritance, such as oligogenic heterozygosity, appear to contribute to the etiopathogenesis of ASDs. Incomplete penetrance and variable expressivity represent particular challenges in the interpretation of CMA testing of autistic individuals. This review aims to provide an overview of autism genetics for the practicing physician and gives hands-on advice on how to follow-up on abnormal CMA findings in individuals with neuropsychiatric disorders. |
X Demographics
The data shown below were collected from the profiles of 15 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 4 | 27% |
| Saudi Arabia | 2 | 13% |
| Ireland | 2 | 13% |
| Canada | 1 | 7% |
| Spain | 1 | 7% |
| United Kingdom | 1 | 7% |
| Unknown | 4 | 27% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 8 | 53% |
| Practitioners (doctors, other healthcare professionals) | 5 | 33% |
| Scientists | 2 | 13% |
Mendeley readers
The data shown below were compiled from readership statistics for 118 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | <1% |
| Australia | 1 | <1% |
| Brazil | 1 | <1% |
| Lithuania | 1 | <1% |
| Czechia | 1 | <1% |
| United Kingdom | 1 | <1% |
| Iceland | 1 | <1% |
| United States | 1 | <1% |
| Unknown | 110 | 93% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 22 | 19% |
| Student > Ph. D. Student | 20 | 17% |
| Student > Bachelor | 18 | 15% |
| Student > Doctoral Student | 8 | 7% |
| Student > Postgraduate | 7 | 6% |
| Other | 23 | 19% |
| Unknown | 20 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 27 | 23% |
| Agricultural and Biological Sciences | 23 | 19% |
| Psychology | 16 | 14% |
| Biochemistry, Genetics and Molecular Biology | 7 | 6% |
| Neuroscience | 6 | 5% |
| Other | 14 | 12% |
| Unknown | 25 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 9. 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 08 June 2014.
All research outputs
#3,767,530
of 23,051,185 outputs
Outputs from Current Psychiatry Reports
#385
of 1,199 outputs
Outputs of similar age
#38,715
of 280,494 outputs
Outputs of similar age from Current Psychiatry Reports
#4
of 9 outputs
Altmetric has tracked 23,051,185 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,199 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 18.1. This one has gotten more attention than average, scoring higher than 67% 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 280,494 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 86% of its contemporaries.
We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than 5 of them.