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Germline mutations in BAP1 predispose to melanocytic tumors.
Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, Windpassinger C, Wackernagel W, Loy S, Wolf I, Viale A, Lash AE, Pirun M, Socci ND, Rütten A, Palmedo G, Abramson D, Offit K, Ott A, Becker JC, Cerroni L, Kutzner H, Bastian BC, Speicher MR. Wiesner T, et al. Among authors: abramson d. Nat Genet. 2011 Aug 28;43(10):1018-21. doi: 10.1038/ng.910. Nat Genet. 2011. PMID: 21874003 Free PMC article.
Prevalence and Preliminary Validation of Screening Criteria to Identify Carriers of Germline BAP1 Mutations.
Zauderer MG, Jayakumaran G, DuBoff M, Zhang L, Francis JH, Abramson DH, Cercek A, Nash GM, Shoushtari A, Chapman P, D'Angelo S, Arnold AG, Siegel B, Fleischut MH, Ni A, Rimner A, Rusch VW, Adusumilli PS, Travis W, Sauter JL, Zehir A, Mandelker D, Ladanyi M, Robson M. Zauderer MG, et al. Among authors: abramson dh, d angelo s. J Thorac Oncol. 2019 Nov;14(11):1989-1994. doi: 10.1016/j.jtho.2019.07.002. Epub 2019 Jul 16. J Thorac Oncol. 2019. PMID: 31323388 Free PMC article.
Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.
Fiala EM, Jayakumaran G, Mauguen A, Kennedy JA, Bouvier N, Kemel Y, Fleischut MH, Maio A, Salo-Mullen EE, Sheehan M, Arnold AG, Latham A, Carlo MI, Cadoo K, Murkherjee S, Slotkin EK, Trippett T, Glade Bender J, Meyers PA, Wexler L, Dela Cruz FS, Cheung NK, Basu E, Kentsis A, Ortiz M, Francis JH, Dunkel IJ, Khakoo Y, Gilheeney S, Farouk Sait S, Forlenza CJ, Sulis M, Karajannis M, Modak S, Gerstle JT, Heaton TE, Roberts S, Yang C, Jairam S, Vijai J, Topka S, Friedman DN, Stadler ZK, Robson M, Berger MF, Schultz N, Ladanyi M, O'Reilly RJ, Abramson DH, Ceyhan-Birsoy O, Zhang L, Mandelker D, Shukla NN, Kung AL, Offit K, Zehir A, Walsh MF. Fiala EM, et al. Among authors: abramson dh. Nat Cancer. 2021 Mar;2:357-365. doi: 10.1038/s43018-021-00172-1. Epub 2021 Feb 15. Nat Cancer. 2021. PMID: 34308366 Free PMC article.
BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi.
Francis JH, Grossniklaus HE, Habib LA, Marr B, Abramson DH, Busam KJ. Francis JH, et al. Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):117-121. doi: 10.1167/iovs.17-22517. Invest Ophthalmol Vis Sci. 2018. PMID: 29332123 Free PMC article.
GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.
Francis JH, Milman T, Grossniklaus H, Albert D, Folberg R, Levitin G, Coupland S, Catalanotti F, Rabady D, Kandoth C, Busam K, Abramson D. Francis JH, et al. Among authors: abramson d. Ophthalmology. 2019 May;126(5):759-763. doi: 10.1016/j.ophtha.2018.12.011. Epub 2018 Dec 8. Ophthalmology. 2019. PMID: 30537484 Free PMC article.
897 results