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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Overview of attention for article published in New England Journal of Medicine, September 2012
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About this Attention Score

  • 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 (65th percentile)

Mentioned by

blogs
2 blogs
twitter
39 X users
patent
1 patent
facebook
4 Facebook pages
googleplus
1 Google+ user

Citations

dimensions_citation
503 Dimensions

Readers on

mendeley
459 Mendeley
citeulike
4 CiteULike
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Title
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Published in
New England Journal of Medicine, September 2012
DOI 10.1056/nejmoa1200395
Pubmed ID
Authors

Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino, Marjan M Nezarati, Alexander Asamoah, Kelly E Jackson, Gordon C Gowans, Judith A Martin, Erin P Carmany, David W Stockton, Rhonda E Schnur, Lynette S Penney, Donna M Martin, Salmo Raskin, Kathleen Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M Niyazov, Luis F Escobar, Dima El-Khechen, Kisha D Johnson, Robert R Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K Brasington, J Edward Spence, Laura S Martin, Carol Clericuzio, Blake C Ballif, Lisa G Shaffer, Evan E Eichler

Abstract

Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management.

X Demographics

X Demographics

The data shown below were collected from the profiles of 39 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 459 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 11 2%
Italy 5 1%
United Kingdom 3 <1%
Netherlands 2 <1%
France 2 <1%
Brazil 2 <1%
Spain 2 <1%
Portugal 1 <1%
India 1 <1%
Other 6 1%
Unknown 424 92%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 106 23%
Researcher 89 19%
Student > Master 49 11%
Student > Doctoral Student 30 7%
Professor > Associate Professor 28 6%
Other 107 23%
Unknown 50 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 114 25%
Medicine and Dentistry 107 23%
Biochemistry, Genetics and Molecular Biology 82 18%
Neuroscience 32 7%
Psychology 21 5%
Other 38 8%
Unknown 65 14%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 46. 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 May 2022.
All research outputs
#907,015
of 25,374,917 outputs
Outputs from New England Journal of Medicine
#9,108
of 32,472 outputs
Outputs of similar age
#4,922
of 187,313 outputs
Outputs of similar age from New England Journal of Medicine
#114
of 334 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 96th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 32,472 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 122.0. This one has gotten more attention than average, scoring higher than 71% 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 187,313 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 334 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 65% of its contemporaries.