Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes.
Frontiers In Oncology
Al-Shinnag, Mohammad M; Marfan, Helen H; Susman, Rachel R; Wakeling, Jan J; Gustafson, Sonja S; Wood, Simon S; Mallett, Andrew John AJ
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
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
American Journal Of Human Genetics
Whitworth, James J; Smith, Philip S PS; Martin, Jose-Ezequiel JE; West, Hannah H; Luchetti, Andrea A; Rodger, Faye F; Clark, Graeme G; Carss, Keren K; Stephens, Jonathan J; Stirrups, Kathleen K; Penkett, Chris C; Mapeta, Rutendo R; Ashford, Sofie S; Megy, Karyn K; Shakeel, Hassan H; Ahmed, Munaza M; Adlard, Julian J; Barwell, Julian J; Brewer, Carole C; Casey, Ruth T RT; Armstrong, Ruth R; Cole, Trevor T; Evans, Dafydd Gareth DG; Fostira, Florentia F; Greenhalgh, Lynn L; Hanson, Helen H; Henderson, Alex A; Hoffman, Jonathan J; Izatt, Louise L; Kumar, Ajith A; Kwong, Ava A; Lalloo, Fiona F; Ong, Kai Ren KR; Paterson, Joan J; Park, Soo-Mi SM; Chen-Shtoyerman, Rakefet R; Searle, Claire C; Side, Lucy L; Skytte, Anne-Bine AB; Snape, Katie K; Woodward, Emma R ER; , ; Tischkowitz, Marc D MD; Maher, Eamonn R ER
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