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 - [Baylor College of Medicine]
Zeynep Coban-Akdemir,,
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, Janson J. White - [Baylor College of Medicine]
Janson J. White,,
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, X Song - [Baylor College of Medicine]
X Song,,
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, Shalini N. Jhangiani - Human Genome Sequencing Center [Baylor College of Medicine (BCM)] [Baylor College of Medicine]
Shalini N. Jhangiani,,
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, Jawid M. Fatih - [Baylor College of Medicine]
Jawid M. Fatih,,
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, Tomasz Gambin (FEIT / IN)
Tomasz Gambin,,
- The Institute of Computer Science
, Yavuz Bayram - [Baylor College of Medicine]
Yavuz Bayram,,
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, Ivan K. Chinn - [Baylor College of Medicine]
Ivan K. Chinn,,
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, Ender Karaca - [Baylor College of Medicine]
Ender Karaca,,
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, Jaya Punetha - [Baylor College of Medicine]
Jaya Punetha,,
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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
ASJC Classification2716 Genetics(clinical); 1311 Genetics
DOIDOI:10.1016/j.ajhg.2018.06.009
URL https://www.sciencedirect.com/science/article/pii/S0002929718302039
projectDevelopment of new algorithms in the areas of software and computer architecture, artificial intelligence and information systems and computer graphics . Project leader: Arabas Jarosław, , Phone: +48 22 234 7432, start date 01-06-2017, end date 31-10-2018, II/2017/DS/1, Completed
WEiTI Działalność statutowa
Languageen angielski
Score (nominal)45
ScoreMinisterial score = 45.0, 10-07-2019, ArticleFromJournal
Publication indicators WoS Citations = 9; Scopus Citations = 13; Scopus SNIP (Source Normalised Impact per Paper): 2016 = 2.482; WoS Impact Factor: 2017 = 8.855 (2) - 2017=10.085 (5)
Citation count*19 (2019-08-20)
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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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