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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
|
|---|---|
| Published in |
European Journal of Human Genetics, September 2015
|
| DOI | 10.1038/ejhg.2015.192 |
| Pubmed ID | |
| Authors |
Julia Lauer Zillhardt, Karine Poirier, Loïc Broix, Nicolas Lebrun, Adrienne Elmorjani, Jelena Martinovic, Yoann Saillour, Giuseppe Muraca, Juliette Nectoux, Bettina Bessieres, Catherine Fallet-Bianco, Stanislas Lyonnet, Olivier Dulac, Sylvie Odent, Imen Rejeb, Lamia Ben Jemaa, Francois Rivier, Lucile Pinson, David Geneviève, Yuri Musizzano, Nicole Bigi, Nicolas Leboucq, Fabienne Giuliano, Nicole Philip, Catheline Vilain, Patrick Van Bogaert, Hélène Maurey, Cherif Beldjord, François Artiguenave, Anne Boland, Robert Olaso, Cécile Masson, Patrick Nitschké, Jean-François Deleuze, Nadia Bahi-Buisson, Jamel Chelly |
| Abstract |
To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were identified by whole-exome sequencing (WES), including a variant in a new candidate gene, syntaxin 7. In view of this high frequency, revision of diagnostic strategies and reoccurrence risk should be considered not only for the recurrent forms, but also for the sporadic cases of MCD.European Journal of Human Genetics advance online publication, 23 September 2015; doi:10.1038/ejhg.2015.192. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Science communicators (journalists, bloggers, editors) | 1 | 50% |
| Members of the public | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 33 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 5 | 15% |
| Researcher | 5 | 15% |
| Student > Doctoral Student | 4 | 12% |
| Student > Bachelor | 3 | 9% |
| Professor | 2 | 6% |
| Other | 6 | 18% |
| Unknown | 8 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 8 | 24% |
| Medicine and Dentistry | 8 | 24% |
| Agricultural and Biological Sciences | 5 | 15% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 6% |
| Neuroscience | 2 | 6% |
| Other | 1 | 3% |
| Unknown | 7 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 29 October 2015.
All research outputs
#18,427,608
of 22,829,083 outputs
Outputs from European Journal of Human Genetics
#3,107
of 3,438 outputs
Outputs of similar age
#197,744
of 274,809 outputs
Outputs of similar age from European Journal of Human Genetics
#55
of 62 outputs
Altmetric has tracked 22,829,083 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,438 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 3rd percentile – i.e., 3% 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 274,809 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 16th percentile – i.e., 16% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 62 others from the same source and published within six weeks on either side of this one. This one is in the 4th percentile – i.e., 4% of its contemporaries scored the same or lower than it.