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Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.

Overview of attention for article published in Nature Genetics, January 2014
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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 (99th percentile)
  • High Attention Score compared to outputs of the same age and source (88th percentile)

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mendeley
112 Mendeley
Title
Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.
Published in
Nature Genetics, January 2014
DOI 10.1038/ng.2868
Pubmed ID
Authors

Priscilla K Brastianos, Amaro Taylor-Weiner, Peter E Manley, Robert T Jones, Dora Dias-Santagata, Aaron R Thorner, Michael S Lawrence, Fausto J Rodriguez, Lindsay A Bernardo, Laura Schubert, Ashwini Sunkavalli, Nick Shillingford, Monica L Calicchio, Hart G W Lidov, Hala Taha, Maria Martinez-Lage, Mariarita Santi, Phillip B Storm, John Y K Lee, James N Palmer, Nithin D Adappa, R Michael Scott, Ian F Dunn, Edward R Laws Jr, Chip Stewart, Keith L Ligon, Mai P Hoang, Paul Van Hummelen, William C Hahn, David N Louis, Adam C Resnick, Mark W Kieran, Gad Getz, Sandro Santagata, Brastianos PK, Taylor-Weiner A, Manley PE, Jones RT, Dias-Santagata D, Thorner AR, Lawrence MS, Rodriguez FJ, Bernardo LA, Schubert L, Sunkavalli A, Shillingford N, Calicchio ML, Lidov HG, Taha H, Martinez-Lage M, Santi M, Storm PB, Lee JY, Palmer JN, Adappa ND, Scott RM, Dunn IF, Laws ER Jr, Stewart C, Ligon KL, Hoang MP, Van Hummelen P, Hahn WC, Louis DN, Resnick AC, Kieran MW, Getz G, Santagata S

Abstract

Craniopharyngiomas are epithelial tumors that typically arise in the suprasellar region of the brain. Patients experience substantial clinical sequelae from both extension of the tumors and therapeutic interventions that damage the optic chiasm, the pituitary stalk and the hypothalamic area. Using whole-exome sequencing, we identified mutations in CTNNB1 (β-catenin) in nearly all adamantinomatous craniopharyngiomas examined (11/12, 92%) and recurrent mutations in BRAF (resulting in p.Val600Glu) in all papillary craniopharyngiomas (3/3, 100%). Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors). The CTNNB1 and BRAF mutations were clonal in each tumor subtype, and we detected no other recurrent mutations or genomic aberrations in either subtype. Adamantinomatous and papillary craniopharyngiomas harbor mutations that are mutually exclusive and clonal. These findings have important implications for the diagnosis and treatment of these neoplasms.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 112 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 3%
Spain 1 <1%
Portugal 1 <1%
Switzerland 1 <1%
France 1 <1%
Mexico 1 <1%
United Kingdom 1 <1%
Korea, Republic of 1 <1%
Czech Republic 1 <1%
Other 0 0%
Unknown 101 90%

Demographic breakdown

Readers by professional status Count As %
Researcher 31 28%
Student > Ph. D. Student 23 21%
Other 12 11%
Student > Master 11 10%
Student > Doctoral Student 8 7%
Other 27 24%
Readers by discipline Count As %
Medicine and Dentistry 44 39%
Agricultural and Biological Sciences 40 36%
Unspecified 12 11%
Biochemistry, Genetics and Molecular Biology 10 9%
Computer Science 2 2%
Other 4 4%

Attention Score in Context

This research output has an Altmetric Attention Score of 135. 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 19 July 2017.
All research outputs
#55,492
of 8,099,079 outputs
Outputs from Nature Genetics
#177
of 4,500 outputs
Outputs of similar age
#1,427
of 187,159 outputs
Outputs of similar age from Nature Genetics
#7
of 59 outputs
Altmetric has tracked 8,099,079 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 4,500 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.6. 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 187,159 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 99% of its contemporaries.
We're also able to compare this research output to 59 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 88% of its contemporaries.