Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: RET: 262A>G; I88V; rs141679950
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bekheirnia, Mir Reza MR; Bekheirnia, Nasim N; Bainbridge, Matthew N MN; Gu, Shen S; Coban Akdemir, Zeynep Hande ZH; Gambin, Tomek T; Janzen, Nicolette K NK; Jhangiani, Shalini N SN; Muzny, Donna M DM; Michael, Mini M; Brewer, Eileen D ED; Elenberg, Ewa E; Kale, Arundhati S AS; Riley, Alyssa A AA; Swartz, Sarah J SJ; Scott, Daryl A DA; Yang, Yaping Y; Srivaths, Poyyapakkam R PR; Wenderfer, Scott E SE; Bodurtha, Joann J; Applegate, Carolyn D CD; Velinov, Milen M; Myers, Angela A; Borovik, Lior L; Craigen, William J WJ; Hanchard, Neil A NA; Rosenfeld, Jill A JA; Lewis, Richard Alan RA; Gonzales, Edmond T ET; Gibbs, Richard A RA; Belmont, John W JW; Roth, David R DR; Eng, Christine C; Braun, Michael C MC; Lupski, James R JR; Lamb, Dolores J DJ
Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.
Nature Genetics
Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ