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A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis.
Kim W, Giannikou K, Dreier JR, Lee S, Tyburczy ME, Silverman EK, Radzikowska E, Wu S, Wu CL, Henske EP, Hunninghake G, Carel H, Roman A, Pujana MA, Moss J, Won S, Kwiatkowski DJ. Kim W, et al. Among authors: tyburczy me. Eur Respir J. 2019 Jun 27;53(6):1900329. doi: 10.1183/13993003.00329-2019. Print 2019 Jun. Eur Respir J. 2019. PMID: 31000673 Free 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: tyburczy me. 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.
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.
Treichel AM, Hamieh L, Nathan NR, Tyburczy ME, Wang JA, Oyerinde O, Raiciulescu S, Julien-Williams P, Jones AM, Gopalakrishnan V, Moss J, Kwiatkowski DJ, Darling TN. Treichel AM, et al. Among authors: tyburczy me. Genet Med. 2019 Nov;21(11):2594-2604. doi: 10.1038/s41436-019-0520-3. Epub 2019 May 22. Genet Med. 2019. PMID: 31114024 Free PMC article.
Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.
Nathan N, Tyburczy ME, Hamieh L, Wang JA, Brown GT, Richard Lee CC, Kwiatkowski DJ, Moss J, Darling TN. Nathan N, et al. Among authors: tyburczy me. J Invest Dermatol. 2016 Feb;136(2):535-538. doi: 10.1016/j.jid.2015.11.015. Epub 2015 Dec 10. J Invest Dermatol. 2016. PMID: 26824744 Free PMC article. No abstract available.
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
Giannikou K, Zhu Z, Kim J, Winden KD, Tyburczy ME, Marron D, Parker JS, Hebert Z, Bongaarts A, Taing L, Long HW, Pisano WV, Alexandrescu S, Godlewski B, Nellist M, Kotulska K, Jozwiak S, Roszkowski M, Mandera M, Thiele EA, Lidov H, Getz G, Devinsky O, Lawrence MS, Ligon KL, Ellison DW, Sahin M, Aronica E, Meredith DM, Kwiatkowski DJ. Giannikou K, et al. Among authors: tyburczy me. Mod Pathol. 2021 Feb;34(2):264-279. doi: 10.1038/s41379-020-00659-9. Epub 2020 Oct 13. Mod Pathol. 2021. PMID: 33051600 Free PMC article.
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. Giannikou K, et al. Among authors: tyburczy me. Genet Med. 2021 Oct;23(10):2022. doi: 10.1038/s41436-020-01066-w. Genet Med. 2021. PMID: 33353975 Free article. No abstract available.
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