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Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations

Overview of attention for article published in New England Journal of Medicine, September 2010
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3 X users
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Citations

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142 Mendeley
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Title
Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations
Published in
New England Journal of Medicine, September 2010
DOI 10.1056/nejmoa0910752
Pubmed ID
Authors

Lata Vadlamudi, Leanne M Dibbens, Kate M Lawrence, Xenia Iona, Jacinta M McMahon, Wayne Murrell, Alan Mackay-Sim, Ingrid E Scheffer, Samuel F Berkovic

Abstract

De novo mutations are a cause of sporadic disease, but little is known about the developmental timing of such mutations. We studied concordant and discordant monozygous twins with de novo mutations in the sodium channel α1 subunit gene (SCN1A) causing Dravet's syndrome, a severe epileptic encephalopathy. On the basis of our findings and the literature on mosaic cases, we conclude that de novo mutations in SCN1A may occur at any time, from the premorula stage of the embryo (causing disease in the subject) to adulthood (with mutations in the germ-line cells of parents causing disease in offspring).

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 142 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 2 1%
Germany 1 <1%
South Africa 1 <1%
New Zealand 1 <1%
Belgium 1 <1%
Japan 1 <1%
United States 1 <1%
Unknown 134 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 31 22%
Student > Ph. D. Student 20 14%
Other 14 10%
Student > Bachelor 13 9%
Professor 11 8%
Other 41 29%
Unknown 12 8%
Readers by discipline Count As %
Medicine and Dentistry 51 36%
Agricultural and Biological Sciences 34 24%
Biochemistry, Genetics and Molecular Biology 18 13%
Neuroscience 8 6%
Unspecified 6 4%
Other 6 4%
Unknown 19 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 09 January 2021.
All research outputs
#7,409,093
of 22,653,392 outputs
Outputs from New England Journal of Medicine
#21,051
of 30,652 outputs
Outputs of similar age
#35,049
of 98,480 outputs
Outputs of similar age from New England Journal of Medicine
#141
of 188 outputs
Altmetric has tracked 22,653,392 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 30,652 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 116.5. This one is in the 15th percentile – i.e., 15% of its peers scored the same or lower than it.
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We're also able to compare this research output to 188 others from the same source and published within six weeks on either side of this one. This one is in the 18th percentile – i.e., 18% of its contemporaries scored the same or lower than it.