| Title |
Recent Advances in the Genetics of Autism Spectrum Disorder
|
|---|---|
| Published in |
Current Neurology and Neuroscience Reports, May 2015
|
| DOI | 10.1007/s11910-015-0553-1 |
| Pubmed ID | |
| Authors |
Silvia De Rubeis, Joseph D. Buxbaum |
| Abstract |
Autism spectrum disorder (ASD) is a devastating neurodevelopmental disorder with high prevalence in the population and a pronounced male preponderance. ASD has a strong genetic basis, but until recently, a large fraction of the genetic factors contributing to liability was still unknown. Over the past 3 years, high-throughput next-generation sequencing on large cohorts has exposed a heterogeneous and complex genetic landscape and has revealed novel risk genes. Here, we provide an overview of the recent advances on the ASD genetic architecture, with an emphasis on the estimates of heritability, the contribution of common variants, and the role of inherited and de novo rare variation. We also examine the genetic components of the reported gender bias. Finally, we discuss the emerging findings from sequencing studies and how they illuminate crucial aspects of ASD pathophysiology. |
X Demographics
The data shown below were collected from the profiles of 4 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 Kingdom | 2 | 50% |
| India | 1 | 25% |
| Unknown | 1 | 25% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 133 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | <1% |
| Portugal | 1 | <1% |
| Germany | 1 | <1% |
| Unknown | 130 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 27 | 20% |
| Student > Ph. D. Student | 20 | 15% |
| Researcher | 19 | 14% |
| Student > Bachelor | 11 | 8% |
| Professor > Associate Professor | 7 | 5% |
| Other | 19 | 14% |
| Unknown | 30 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 22 | 17% |
| Neuroscience | 18 | 14% |
| Medicine and Dentistry | 18 | 14% |
| Biochemistry, Genetics and Molecular Biology | 15 | 11% |
| Psychology | 14 | 11% |
| Other | 10 | 8% |
| Unknown | 36 | 27% |
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 31 December 2017.
All research outputs
#6,953,472
of 22,803,211 outputs
Outputs from Current Neurology and Neuroscience Reports
#361
of 914 outputs
Outputs of similar age
#82,606
of 264,548 outputs
Outputs of similar age from Current Neurology and Neuroscience Reports
#10
of 18 outputs
Altmetric has tracked 22,803,211 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 914 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has gotten more attention than average, scoring higher than 58% of its peers.
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We're also able to compare this research output to 18 others from the same source and published within six weeks on either side of this one. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.