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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome
|
|---|---|
| Published in |
Neuron, June 2017
|
| DOI | 10.1016/j.neuron.2017.06.010 |
| Pubmed ID | |
| Authors |
Alden Y. Huang, Dongmei Yu, Lea K. Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A. Chen, Lauren M. McGrath, Cornelia Illmann, Paul Sandor, Cathy L. Barr, Marco Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Robert A. King, Yves Dion, Guy Rouleau, Cathy L. Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R. Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J. Lyon, William M. McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R. Batterson, Renata Rizzo, Danielle C. Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A. Malaty, Michael S. Okun, Douglas W. Woods, Elliott Rees, Carlos N. Pato, Michele T. Pato, James A. Knowles, Danielle Posthuma, David L. Pauls, Nancy J. Cox, Benjamin M. Neale, Nelson B. Freimer, Peristera Paschou, Carol A. Mathews, Jeremiah M. Scharf, Giovanni Coppola, The Tourette Syndrome Association International Consortium for Genetics, Ruth D. Bruun, Sylvain Chouinard, Sabrina Darrow, Erica Greenberg, Matthew E. Hirschtritt, The Gilles de la Tourette Syndrome GWAS Replication Initiative, Roger Kurlan, James F. Leckman, Mary M. Robertson, Jan Smit |
| Abstract |
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2.28, 95% CI [1.39-3.79], p = 1.2 × 10(-3)) and known, pathogenic CNVs (OR = 3.03 [1.85-5.07], p = 1.5 × 10(-5)). We also identified two individual, genome-wide significant loci, each conferring a substantial increase in TS risk (NRXN1 deletions, OR = 20.3, 95% CI [2.6-156.2]; CNTN6 duplications, OR = 10.1, 95% CI [2.3-45.4]). Approximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS. |
X Demographics
The data shown below were collected from the profiles of 37 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 | 20 | 54% |
| United Kingdom | 2 | 5% |
| Netherlands | 1 | 3% |
| Belgium | 1 | 3% |
| Taiwan | 1 | 3% |
| Hungary | 1 | 3% |
| Ireland | 1 | 3% |
| India | 1 | 3% |
| Uzbekistan | 1 | 3% |
| Other | 0 | 0% |
| Unknown | 8 | 22% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 23 | 62% |
| Scientists | 10 | 27% |
| Practitioners (doctors, other healthcare professionals) | 2 | 5% |
| Science communicators (journalists, bloggers, editors) | 1 | 3% |
| Unknown | 1 | 3% |
Mendeley readers
The data shown below were compiled from readership statistics for 162 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | <1% |
| Sweden | 1 | <1% |
| Unknown | 160 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 23 | 14% |
| Researcher | 19 | 12% |
| Student > Bachelor | 19 | 12% |
| Student > Doctoral Student | 14 | 9% |
| Student > Postgraduate | 10 | 6% |
| Other | 31 | 19% |
| Unknown | 46 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 26 | 16% |
| Medicine and Dentistry | 23 | 14% |
| Neuroscience | 22 | 14% |
| Agricultural and Biological Sciences | 20 | 12% |
| Psychology | 7 | 4% |
| Other | 14 | 9% |
| Unknown | 50 | 31% |
Attention Score in Context
This research output has an Altmetric Attention Score of 177. 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 01 August 2022.
All research outputs
#227,812
of 25,382,440 outputs
Outputs from Neuron
#308
of 9,546 outputs
Outputs of similar age
#4,808
of 330,503 outputs
Outputs of similar age from Neuron
#7
of 123 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 9,546 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 33.2. This one has done particularly well, scoring higher than 96% 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 330,503 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 98% of its contemporaries.
We're also able to compare this research output to 123 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 94% of its contemporaries.