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Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M, Rothfels K, Matthews L, Wright A, Jassal B, Shamovsky V, Trinh Q, Gillespie ME, Sevilla C, Tiwari K, Ragueneau E, Gong C, Stephan R, May B, Haw R, Weiser J, Beavers D, Conley P, Hermjakob H, Stein LD, D'Eustachio P, Wu G. Orlic-Milacic M, et al. Among authors: trinh q. Database (Oxford). 2024 May 7;2024:baae031. doi: 10.1093/database/baae031. Database (Oxford). 2024. PMID: 38713862 Free article.
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M, Rothfels K, Matthews L, Wright A, Jassal B, Shamovsky V, Trinh Q, Gillespie M, Sevilla C, Tiwari K, Ragueneau E, Gong C, Stephan R, May B, Haw R, Weiser J, Beavers D, Conley P, Hermjakob H, Stein LD, D'Eustachio P, Wu G. Orlic-Milacic M, et al. Among authors: trinh q. bioRxiv [Preprint]. 2023 Oct 21:2023.10.18.562964. doi: 10.1101/2023.10.18.562964. bioRxiv. 2023. PMID: 37904913 Free PMC article. Updated. Preprint.
Identification of genes expressed by immune cells of the colon that are regulated by colorectal cancer-associated variants.
Peltekova VD, Lemire M, Qazi AM, Zaidi SH, Trinh QM, Bielecki R, Rogers M, Hodgson L, Wang M, D'Souza DJ, Zandi S, Chong T, Kwan JY, Kozak K, De Borja R, Timms L, Rangrej J, Volar M, Chan-Seng-Yue M, Beck T, Ash C, Lee S, Wang J, Boutros PC, Stein LD, Dick JE, Gryfe R, McPherson JD, Zanke BW, Pollett A, Gallinger S, Hudson TJ. Peltekova VD, et al. Int J Cancer. 2014 May 15;134(10):2330-41. doi: 10.1002/ijc.28557. Epub 2013 Nov 13. Int J Cancer. 2014. PMID: 24154973 Free PMC article.
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Chen PC, et al. Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas.1324128111. Epub 2014 Jul 21. Proc Natl Acad Sci U S A. 2014. PMID: 25049390 Free PMC article.
877 results