Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Inclusion of genotype with fundus phenotype improves accuracy of predicting choroidal neovascularization and geographic atrophy.
Ophthalmology
Perlee, Lorah T LT; Bansal, Aruna T AT; Gehrs, Karen K; Heier, Jeffrey S JS; Csaky, Karl K; Allikmets, Rando R; Oeth, Paul P; Paladino, Toni T; Farkas, Daniel H DH; Rawlings, P Lyle PL; Hageman, Gregory S GS
Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration.
Human Genomics
Hageman, Gregory S GS; Gehrs, Karen K; Lejnine, Serguei S; Bansal, Aruna T AT; Deangelis, Margaret M MM; Guymer, Robyn H RH; Baird, Paul N PN; Allikmets, Rando R; Deciu, Cosmin C; Oeth, Paul P; Perlee, Lorah T LT