Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Science Signaling
Crooks, Daniel R DR; Maio, Nunziata N; Lang, Martin M; Ricketts, Christopher J CJ; Vocke, Cathy D CD; Gurram, Sandeep S; Turan, Sevilay S; Kim, Yun-Young YY; Cawthon, G Mariah GM; Sohelian, Ferri F; De Val, Natalia N; Pfeiffer, Ruth M RM; Jailwala, Parthav P; Tandon, Mayank M; Tran, Bao B; Fan, Teresa W-M TW; Lane, Andrew N AN; Ried, Thomas T; Wangsa, Darawalee D; Malayeri, Ashkan A AA; Merino, Maria J MJ; Yang, Youfeng Y; Meier, Jordan L JL; Ball, Mark W MW; Rouault, Tracey A TA; Srinivasan, Ramaprasad R; Linehan, W Marston WM
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
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
Bmc Medical Genetics
Bayley, Jean-Pierre JP; Launonen, Virpi V; Tomlinson, Ian P M IP