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A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation.
Yanchus C, Drucker KL, Kollmeyer TM, Tsai R, Winick-Ng W, Liang M, Malik A, Pawling J, De Lorenzo SB, Ali A, Decker PA, Kosel ML, Panda A, Al-Zahrani KN, Jiang L, Browning JWL, Lowden C, Geuenich M, Hernandez JJ, Gosio JT, Ahmed M, Loganathan SK, Berman J, Trcka D, Michealraj KA, Fortin J, Carson B, Hollingsworth EW, Jacinto S, Mazrooei P, Zhou L, Elia A, Lupien M, He HH, Murphy DJ, Wang L, Abyzov A, Dennis JW, Maass PG, Campbell K, Wilson MD, Lachance DH, Wrensch M, Wiencke J, Mak T, Pennacchio LA, Dickel DE, Visel A, Wrana J, Taylor MD, Zadeh G, Dirks P, Eckel-Passow JE, Attisano L, Pombo A, Ida CM, Kvon EZ, Jenkins RB, Schramek D. Yanchus C, et al. Among authors: kvon ez. Science. 2022 Oct 7;378(6615):68-78. doi: 10.1126/science.abj2890. Epub 2022 Oct 6. Science. 2022. PMID: 36201590 Free PMC article.
Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.
Kvon EZ, Zhu Y, Kelman G, Novak CS, Plajzer-Frick I, Kato M, Garvin TH, Pham Q, Harrington AN, Hunter RD, Godoy J, Meky EM, Akiyama JA, Afzal V, Tran S, Escande F, Gilbert-Dussardier B, Jean-Marçais N, Hudaiberdiev S, Ovcharenko I, Dobbs MB, Gurnett CA, Manouvrier-Hanu S, Petit F, Visel A, Dickel DE, Pennacchio LA. Kvon EZ, et al. Cell. 2020 Mar 19;180(6):1262-1271.e15. doi: 10.1016/j.cell.2020.02.031. Epub 2020 Mar 12. Cell. 2020. PMID: 32169219 Free PMC article.
Ultraconserved enhancer function does not require perfect sequence conservation.
Snetkova V, Ypsilanti AR, Akiyama JA, Mannion BJ, Plajzer-Frick I, Novak CS, Harrington AN, Pham QT, Kato M, Zhu Y, Godoy J, Meky E, Hunter RD, Shi M, Kvon EZ, Afzal V, Tran S, Rubenstein JLR, Visel A, Pennacchio LA, Dickel DE. Snetkova V, et al. Among authors: kvon ez. Nat Genet. 2021 Apr;53(4):521-528. doi: 10.1038/s41588-021-00812-3. Epub 2021 Mar 29. Nat Genet. 2021. PMID: 33782603 Free PMC article.
Progressive Loss of Function in a Limb Enhancer during Snake Evolution.
Kvon EZ, Kamneva OK, Melo US, Barozzi I, Osterwalder M, Mannion BJ, Tissières V, Pickle CS, Plajzer-Frick I, Lee EA, Kato M, Garvin TH, Akiyama JA, Afzal V, Lopez-Rios J, Rubin EM, Dickel DE, Pennacchio LA, Visel A. Kvon EZ, et al. Cell. 2016 Oct 20;167(3):633-642.e11. doi: 10.1016/j.cell.2016.09.028. Cell. 2016. PMID: 27768887 Free PMC article.
Enhancer redundancy in development and disease.
Kvon EZ, Waymack R, Gad M, Wunderlich Z. Kvon EZ, et al. Nat Rev Genet. 2021 May;22(5):324-336. doi: 10.1038/s41576-020-00311-x. Epub 2021 Jan 12. Nat Rev Genet. 2021. PMID: 33442000 Free PMC article. Review.
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