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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Overview of attention for article published in Nature Genetics, February 2017
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (97th percentile)
  • Good Attention Score compared to outputs of the same age and source (70th percentile)

Mentioned by

news
11 news outlets
blogs
2 blogs
twitter
45 X users

Citations

dimensions_citation
70 Dimensions

Readers on

mendeley
104 Mendeley
citeulike
1 CiteULike
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Title
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Published in
Nature Genetics, February 2017
DOI 10.1038/ng.3794
Pubmed ID
Authors

Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, Simone A Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura R Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A Robinson, Megan Spencer-Smith, Myriam Srour, Sarah E M Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attié-Bitach, Martin B Delatycki, Jean-Louis Mandel, David J Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H Sherr, Richard J Leventer, Linda J Richards, Paul J Lockhart, Christel Depienne

Abstract

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

X Demographics

X Demographics

The data shown below were collected from the profiles of 45 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 104 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 104 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 16 15%
Researcher 16 15%
Student > Master 11 11%
Student > Bachelor 9 9%
Professor 6 6%
Other 13 13%
Unknown 33 32%
Readers by discipline Count As %
Medicine and Dentistry 17 16%
Agricultural and Biological Sciences 14 13%
Neuroscience 14 13%
Biochemistry, Genetics and Molecular Biology 9 9%
Psychology 3 3%
Other 9 9%
Unknown 38 37%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 116. 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 14 August 2020.
All research outputs
#348,947
of 24,826,104 outputs
Outputs from Nature Genetics
#701
of 7,479 outputs
Outputs of similar age
#7,595
of 317,331 outputs
Outputs of similar age from Nature Genetics
#25
of 81 outputs
Altmetric has tracked 24,826,104 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,479 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 42.9. This one has done particularly well, scoring higher than 90% 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 317,331 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 97% of its contemporaries.
We're also able to compare this research output to 81 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.