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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ. Tyburczy ME, et al. Among authors: chekaluk y. PLoS Genet. 2015 Nov 5;11(11):e1005637. doi: 10.1371/journal.pgen.1005637. eCollection 2015 Nov. PLoS Genet. 2015. PMID: 26540169 Free PMC article.
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
Giannikou K, Malinowska IA, Pugh TJ, Yan R, Tseng YY, Oh C, Kim J, Tyburczy ME, Chekaluk Y, Liu Y, Alesi N, Finlay GA, Wu CL, Signoretti S, Meyerson M, Getz G, Boehm JS, Henske EP, Kwiatkowski DJ. Giannikou K, et al. Among authors: chekaluk y. PLoS Genet. 2016 Aug 5;12(8):e1006242. doi: 10.1371/journal.pgen.1006242. eCollection 2016 Aug. PLoS Genet. 2016. PMID: 27494029 Free PMC article.
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex.
Goto J, Talos DM, Klein P, Qin W, Chekaluk YI, Anderl S, Malinowska IA, Di Nardo A, Bronson RT, Chan JA, Vinters HV, Kernie SG, Jensen FE, Sahin M, Kwiatkowski DJ. Goto J, et al. Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):E1070-9. doi: 10.1073/pnas.1106454108. Epub 2011 Oct 24. Proc Natl Acad Sci U S A. 2011. PMID: 22025691 Free PMC article.
Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload.
Kayyali US, Larsen CG, Bashiruddin S, Lewandowski SL, Trivedi CM, Warburton RR, Parkhitko AA, Morrison TA, Henske EP, Chekaluk Y, Kwiatkowski DJ, Finlay GA. Kayyali US, et al. Among authors: chekaluk y. Cardiovasc Pathol. 2015 Mar-Apr;24(2):80-93. doi: 10.1016/j.carpath.2014.10.005. Epub 2014 Nov 7. Cardiovasc Pathol. 2015. PMID: 25434723 Free PMC article.
Integrative analysis of 1q23.3 copy-number gain in metastatic urothelial carcinoma.
Riester M, Werner L, Bellmunt J, Selvarajah S, Guancial EA, Weir BA, Stack EC, Park RS, O'Brien R, Schutz FA, Choueiri TK, Signoretti S, Lloreta J, Marchionni L, Gallardo E, Rojo F, Garcia DI, Chekaluk Y, Kwiatkowski DJ, Bochner BH, Hahn WC, Ligon AH, Barletta JA, Loda M, Berman DM, Kantoff PW, Michor F, Rosenberg JE. Riester M, et al. Among authors: chekaluk y. Clin Cancer Res. 2014 Apr 1;20(7):1873-83. doi: 10.1158/1078-0432.CCR-13-0759. Epub 2014 Jan 31. Clin Cancer Res. 2014. PMID: 24486590 Free PMC article.
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