Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Zeynep Coban-Akdemir , Janson J. White , X Song , Shalini N. Jhangiani , Jawid M. Fatih , Tomasz Gambin , Yavuz Bayram , Ivan K. Chinn , Ender Karaca , Jaya Punetha , Cecilia Poli , Eric Boerwinkle , Chad Shaw , Jordan S. Orange , Richard A. Gibbs , Tuuli Lappalainen , James R. Lupski , Claudia M.B. Carvalho

Abstract

n/a
Author Zeynep Coban-Akdemir
Zeynep Coban-Akdemir,,
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, Janson J. White
Janson J. White,,
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, X Song
X Song,,
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, Shalini N. Jhangiani - Human Genome Sequencing Center [Baylor College of Medicine (BCM)]
Shalini N. Jhangiani,,
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, Jawid M. Fatih
Jawid M. Fatih,,
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, Tomasz Gambin (FEIT / IN)
Tomasz Gambin,,
- The Institute of Computer Science
, Yavuz Bayram
Yavuz Bayram,,
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, Ivan K. Chinn
Ivan K. Chinn,,
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, Ender Karaca
Ender Karaca,,
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, Jaya Punetha
Jaya Punetha,,
-
et al.`
Journal seriesAmerican Journal of Human Genetics, ISSN 0002-9297, (A 45 pkt)
Issue year2018
Vol103
No2
Pages171-187
Publication size in sheets0.8
DOIDOI:10.1016/j.ajhg.2018.06.009
URL https://www.sciencedirect.com/science/article/pii/S0002929718302039
Languageen angielski
Score (nominal)45
ScoreMinisterial score = 45.0, 04-09-2018, ArticleFromJournal
Ministerial score (2013-2016) = 45.0, 04-09-2018, ArticleFromJournal
Publication indicators WoS Impact Factor: 2016 = 9.025 (2) - 2016=10.362 (5)
Citation count*4 (2018-11-13)
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* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.
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