Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: FGFR3: 1657G>A; Val553Met
Genomic heterogeneity as a barrier to precision oncology in urothelial cancer.
Cell Reports
Clinton, Timothy N TN; Chen, Ziyu Z; Wise, Hannah H; Lenis, Andrew T AT; Chavan, Shweta S; Donoghue, Mark T A MTA; Almassi, Nima N; Chu, Carissa E CE; Dason, Shawn S; Rao, Pavitra P; Rodrigues, James A JA; Vasani, Naresh B NB; Ridouani, Fourat F; Rosenberg, Jonathan E JE; Bajorin, Dean F DF; Teo, Min Yuen MY; Bochner, Bernard H BH; Berger, Michael F MF; Ostrovnaya, Irina I; Pietzak, Eugene J EJ; Iyer, Gopa G; Gao, Sizhi Paul SP; Hu, Wenhuo W; Al-Ahmadie, Hikmat A HA; Solit, David B DB
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Genome Research
Maher, Geoffrey J GJ; Ralph, Hannah K HK; Ding, Zhihao Z; Koelling, Nils N; Mlcochova, Hana H; Giannoulatou, Eleni E; Dhami, Pawan P; Paul, Dirk S DS; Stricker, Stefan H SH; Beck, Stephan S; McVean, Gilean G; Wilkie, Andrew O M AOM; Goriely, Anne A