Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.
Cold Spring Harbor Molecular Case Studies
Thibodeau, My Linh ML; Reisle, Caralyn C; Zhao, Eric E; Martin, Lee Ann LA; Alwelaie, Yazeed Y; Mungall, Karen L KL; Ch'ng, Carolyn C; Thomas, Ruth R; Ng, Tony T; Yip, Stephen S; J Lim, Howard H; Sun, Sophie S; Young, Sean S SS; Karsan, Aly A; Zhao, Yongjun Y; Mungall, Andrew J AJ; Moore, Richard A RA; J Renouf, Daniel D; Gelmon, Karen K; Ma, Yussanne P YP; Hayes, Malcolm M; Laskin, Janessa J; Marra, Marco A MA; Schrader, Kasmintan A KA; Jones, Steven J M SJM