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A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.
Rienhoff HY Jr, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M. Rienhoff HY Jr, et al. Among authors: khrebtukova i. Am J Med Genet A. 2013 Aug;161A(8):2040-6. doi: 10.1002/ajmg.a.36056. Epub 2013 Jul 3. Am J Med Genet A. 2013. PMID: 23824657 Free PMC article.
Alternative isoform regulation in human tissue transcriptomes.
Wang ET, Sandberg R, Luo S, Khrebtukova I, Zhang L, Mayr C, Kingsmore SF, Schroth GP, Burge CB. Wang ET, et al. Among authors: khrebtukova i. Nature. 2008 Nov 27;456(7221):470-6. doi: 10.1038/nature07509. Nature. 2008. PMID: 18978772 Free PMC article.
Ab initio construction of a eukaryotic transcriptome by massively parallel mRNA sequencing.
Yassour M, Kaplan T, Fraser HB, Levin JZ, Pfiffner J, Adiconis X, Schroth G, Luo S, Khrebtukova I, Gnirke A, Nusbaum C, Thompson DA, Friedman N, Regev A. Yassour M, et al. Among authors: khrebtukova i. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3264-9. doi: 10.1073/pnas.0812841106. Epub 2009 Feb 10. Proc Natl Acad Sci U S A. 2009. PMID: 19208812 Free PMC article.
Chimeric transcript discovery by paired-end transcriptome sequencing.
Maher CA, Palanisamy N, Brenner JC, Cao X, Kalyana-Sundaram S, Luo S, Khrebtukova I, Barrette TR, Grasso C, Yu J, Lonigro RJ, Schroth G, Kumar-Sinha C, Chinnaiyan AM. Maher CA, et al. Among authors: khrebtukova i. Proc Natl Acad Sci U S A. 2009 Jul 28;106(30):12353-8. doi: 10.1073/pnas.0904720106. Epub 2009 Jul 10. Proc Natl Acad Sci U S A. 2009. PMID: 19592507 Free PMC article.
41 results